Incidental Mutation 'N/A - 293:Mycbp2'
ID 26
Institutional Source Beutler Lab
Gene Symbol Mycbp2
Ensembl Gene ENSMUSG00000033004
Gene Name MYC binding protein 2, E3 ubiquitin protein ligase
Synonyms Phr1, Pam, C130061D10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # N/A - 293 of strain aoba
Quality Score
Status Validated
Chromosome 14
Chromosomal Location 103350847-103584250 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 103461898 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159855] [ENSMUST00000160758]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000159855
SMART Domains Protein: ENSMUSP00000124710
Gene: ENSMUSG00000033004

DomainStartEndE-ValueType
low complexity region 5 27 N/A INTRINSIC
low complexity region 47 55 N/A INTRINSIC
low complexity region 100 127 N/A INTRINSIC
low complexity region 178 191 N/A INTRINSIC
Pfam:RCC1_2 683 712 1.4e-10 PFAM
low complexity region 737 750 N/A INTRINSIC
low complexity region 793 815 N/A INTRINSIC
Pfam:RCC1_2 942 971 5.5e-10 PFAM
Pfam:RCC1 958 1006 4.8e-15 PFAM
Pfam:PHR 1235 1385 8.2e-44 PFAM
Pfam:PHR 1723 1880 1.4e-43 PFAM
low complexity region 1935 1948 N/A INTRINSIC
low complexity region 2182 2195 N/A INTRINSIC
Pfam:Filamin 2261 2431 7.5e-9 PFAM
Pfam:SH3_3 2472 2539 4.1e-9 PFAM
internal_repeat_3 2612 2679 1.69e-7 PROSPERO
low complexity region 2701 2710 N/A INTRINSIC
low complexity region 2884 2917 N/A INTRINSIC
low complexity region 2970 2984 N/A INTRINSIC
coiled coil region 3263 3290 N/A INTRINSIC
low complexity region 3352 3365 N/A INTRINSIC
low complexity region 3418 3433 N/A INTRINSIC
low complexity region 3678 3695 N/A INTRINSIC
APC10 3810 3968 1.11e-18 SMART
low complexity region 4103 4115 N/A INTRINSIC
low complexity region 4190 4212 N/A INTRINSIC
Blast:BBOX 4327 4370 7e-7 BLAST
RING 4496 4546 5.35e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160758
SMART Domains Protein: ENSMUSP00000124601
Gene: ENSMUSG00000033004

DomainStartEndE-ValueType
low complexity region 14 22 N/A INTRINSIC
low complexity region 67 94 N/A INTRINSIC
low complexity region 145 158 N/A INTRINSIC
Pfam:RCC1_2 650 679 1e-10 PFAM
low complexity region 704 717 N/A INTRINSIC
low complexity region 760 782 N/A INTRINSIC
Pfam:RCC1_2 909 938 1.5e-9 PFAM
Pfam:RCC1 925 973 1.3e-15 PFAM
Pfam:PHR 1202 1353 1.6e-50 PFAM
Pfam:PHR 1690 1848 3.1e-58 PFAM
low complexity region 1902 1915 N/A INTRINSIC
low complexity region 2149 2162 N/A INTRINSIC
Pfam:Filamin 2228 2398 7.6e-9 PFAM
Pfam:SH3_3 2439 2507 2.3e-10 PFAM
internal_repeat_3 2554 2621 2e-7 PROSPERO
low complexity region 2643 2652 N/A INTRINSIC
low complexity region 2774 2807 N/A INTRINSIC
low complexity region 2860 2874 N/A INTRINSIC
coiled coil region 3153 3180 N/A INTRINSIC
low complexity region 3242 3255 N/A INTRINSIC
low complexity region 3308 3323 N/A INTRINSIC
low complexity region 3568 3585 N/A INTRINSIC
APC10 3700 3858 1.11e-18 SMART
low complexity region 3993 4005 N/A INTRINSIC
low complexity region 4080 4102 N/A INTRINSIC
Blast:BBOX 4217 4260 7e-7 BLAST
RING 4386 4436 5.35e-5 SMART
Coding Region Coverage
  • 1x: 88.4%
  • 3x: 74.0%
Validation Efficiency 85% (165/193)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(5) Chemically induced(3)

Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Exoc1l T C 5: 76,664,339 (GRCm39) S143P probably benign Homo
Gm7634 T A 1: 16,124,084 (GRCm39) noncoding transcript Homo
Kras T A 6: 145,177,940 (GRCm39) M111L probably benign Homo
Lrig1 T C 6: 94,586,068 (GRCm39) T707A probably benign Homo
Or2a7 C T 6: 43,151,493 (GRCm39) T191I probably benign Homo
Smarcad1 T A 6: 65,051,898 (GRCm39) F344I probably benign Homo
Sprr4 G A 3: 92,407,650 (GRCm39) Q51* probably null Homo
Zeb1 A T 18: 5,767,076 (GRCm39) H529L possibly damaging Homo
Other mutations in Mycbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Mycbp2 APN 14 103,460,486 (GRCm39) missense probably damaging 1.00
IGL00518:Mycbp2 APN 14 103,393,244 (GRCm39) missense probably damaging 1.00
IGL00650:Mycbp2 APN 14 103,380,664 (GRCm39) missense probably damaging 0.97
IGL00653:Mycbp2 APN 14 103,380,664 (GRCm39) missense probably damaging 0.97
IGL00742:Mycbp2 APN 14 103,438,788 (GRCm39) missense probably damaging 1.00
IGL00755:Mycbp2 APN 14 103,432,057 (GRCm39) missense possibly damaging 0.72
IGL00793:Mycbp2 APN 14 103,364,189 (GRCm39) missense possibly damaging 0.77
IGL00916:Mycbp2 APN 14 103,528,719 (GRCm39) splice site probably benign
IGL00960:Mycbp2 APN 14 103,466,820 (GRCm39) missense possibly damaging 0.95
IGL00977:Mycbp2 APN 14 103,410,078 (GRCm39) missense probably damaging 0.98
IGL01349:Mycbp2 APN 14 103,359,983 (GRCm39) missense probably damaging 0.98
IGL01369:Mycbp2 APN 14 103,392,946 (GRCm39) missense possibly damaging 0.61
IGL01410:Mycbp2 APN 14 103,466,928 (GRCm39) splice site probably null
IGL01586:Mycbp2 APN 14 103,378,305 (GRCm39) critical splice donor site probably null
IGL01593:Mycbp2 APN 14 103,528,723 (GRCm39) critical splice donor site probably null
IGL01693:Mycbp2 APN 14 103,365,415 (GRCm39) missense probably damaging 0.99
IGL01730:Mycbp2 APN 14 103,372,640 (GRCm39) nonsense probably null
IGL01820:Mycbp2 APN 14 103,425,937 (GRCm39) missense probably damaging 1.00
IGL01974:Mycbp2 APN 14 103,380,647 (GRCm39) missense possibly damaging 0.88
IGL02071:Mycbp2 APN 14 103,392,343 (GRCm39) nonsense probably null
IGL02178:Mycbp2 APN 14 103,461,802 (GRCm39) missense probably benign 0.01
IGL02324:Mycbp2 APN 14 103,479,643 (GRCm39) missense probably damaging 1.00
IGL02442:Mycbp2 APN 14 103,551,811 (GRCm39) missense probably benign
IGL02607:Mycbp2 APN 14 103,522,709 (GRCm39) missense probably damaging 1.00
IGL02679:Mycbp2 APN 14 103,442,621 (GRCm39) missense probably benign
IGL02702:Mycbp2 APN 14 103,457,560 (GRCm39) missense probably benign 0.01
IGL02709:Mycbp2 APN 14 103,392,697 (GRCm39) missense probably damaging 0.97
IGL02736:Mycbp2 APN 14 103,351,678 (GRCm39) splice site probably benign
IGL02866:Mycbp2 APN 14 103,367,428 (GRCm39) missense probably damaging 0.98
IGL02939:Mycbp2 APN 14 103,414,715 (GRCm39) missense probably benign
IGL03082:Mycbp2 APN 14 103,441,805 (GRCm39) missense probably benign 0.23
IGL03142:Mycbp2 APN 14 103,536,212 (GRCm39) missense probably damaging 0.99
IGL03155:Mycbp2 APN 14 103,392,889 (GRCm39) missense probably benign 0.06
IGL03236:Mycbp2 APN 14 103,536,134 (GRCm39) missense probably damaging 0.99
IGL03256:Mycbp2 APN 14 103,426,025 (GRCm39) missense possibly damaging 0.92
IGL03303:Mycbp2 APN 14 103,485,194 (GRCm39) missense probably damaging 1.00
compost UTSW 14 103,393,889 (GRCm39) missense probably damaging 1.00
decompose UTSW 14 103,457,415 (GRCm39) missense probably benign 0.12
moulder UTSW 14 103,426,028 (GRCm39) missense probably damaging 1.00
R0040:Mycbp2 UTSW 14 103,461,708 (GRCm39) missense probably benign 0.11
R0040:Mycbp2 UTSW 14 103,461,708 (GRCm39) missense probably benign 0.11
R0057:Mycbp2 UTSW 14 103,389,578 (GRCm39) missense probably damaging 0.97
R0063:Mycbp2 UTSW 14 103,394,070 (GRCm39) unclassified probably benign
R0097:Mycbp2 UTSW 14 103,393,198 (GRCm39) missense probably damaging 1.00
R0097:Mycbp2 UTSW 14 103,393,198 (GRCm39) missense probably damaging 1.00
R0268:Mycbp2 UTSW 14 103,551,761 (GRCm39) nonsense probably null
R0388:Mycbp2 UTSW 14 103,394,103 (GRCm39) missense probably benign 0.01
R0410:Mycbp2 UTSW 14 103,372,569 (GRCm39) missense probably damaging 1.00
R0530:Mycbp2 UTSW 14 103,419,895 (GRCm39) missense probably damaging 1.00
R0591:Mycbp2 UTSW 14 103,433,827 (GRCm39) unclassified probably benign
R0671:Mycbp2 UTSW 14 103,432,024 (GRCm39) missense possibly damaging 0.95
R0755:Mycbp2 UTSW 14 103,412,230 (GRCm39) missense probably damaging 1.00
R0817:Mycbp2 UTSW 14 103,466,854 (GRCm39) missense probably damaging 0.99
R0818:Mycbp2 UTSW 14 103,466,854 (GRCm39) missense probably damaging 0.99
R0819:Mycbp2 UTSW 14 103,466,854 (GRCm39) missense probably damaging 0.99
R0881:Mycbp2 UTSW 14 103,457,449 (GRCm39) missense probably benign
R0903:Mycbp2 UTSW 14 103,513,293 (GRCm39) missense probably damaging 0.99
R0940:Mycbp2 UTSW 14 103,500,129 (GRCm39) unclassified probably benign
R0961:Mycbp2 UTSW 14 103,422,271 (GRCm39) missense probably damaging 1.00
R1004:Mycbp2 UTSW 14 103,378,353 (GRCm39) missense probably benign 0.00
R1138:Mycbp2 UTSW 14 103,412,262 (GRCm39) missense possibly damaging 0.84
R1170:Mycbp2 UTSW 14 103,437,588 (GRCm39) nonsense probably null
R1211:Mycbp2 UTSW 14 103,357,999 (GRCm39) missense probably benign 0.31
R1268:Mycbp2 UTSW 14 103,446,218 (GRCm39) missense probably damaging 1.00
R1298:Mycbp2 UTSW 14 103,393,334 (GRCm39) missense probably damaging 1.00
R1341:Mycbp2 UTSW 14 103,536,303 (GRCm39) splice site probably benign
R1469:Mycbp2 UTSW 14 103,425,956 (GRCm39) missense probably damaging 0.99
R1469:Mycbp2 UTSW 14 103,425,956 (GRCm39) missense probably damaging 0.99
R1513:Mycbp2 UTSW 14 103,441,825 (GRCm39) missense probably damaging 1.00
R1528:Mycbp2 UTSW 14 103,470,033 (GRCm39) missense possibly damaging 0.91
R1564:Mycbp2 UTSW 14 103,407,287 (GRCm39) splice site probably null
R1565:Mycbp2 UTSW 14 103,489,945 (GRCm39) missense possibly damaging 0.82
R1656:Mycbp2 UTSW 14 103,485,194 (GRCm39) missense probably damaging 1.00
R1694:Mycbp2 UTSW 14 103,464,947 (GRCm39) missense probably damaging 1.00
R1709:Mycbp2 UTSW 14 103,461,852 (GRCm39) missense probably damaging 1.00
R1728:Mycbp2 UTSW 14 103,392,614 (GRCm39) missense probably damaging 0.98
R1751:Mycbp2 UTSW 14 103,485,841 (GRCm39) missense probably damaging 0.98
R1767:Mycbp2 UTSW 14 103,485,841 (GRCm39) missense probably damaging 0.98
R1772:Mycbp2 UTSW 14 103,419,855 (GRCm39) missense probably damaging 1.00
R1784:Mycbp2 UTSW 14 103,392,614 (GRCm39) missense probably damaging 0.98
R1823:Mycbp2 UTSW 14 103,489,945 (GRCm39) missense possibly damaging 0.82
R1824:Mycbp2 UTSW 14 103,489,945 (GRCm39) missense possibly damaging 0.82
R1844:Mycbp2 UTSW 14 103,393,150 (GRCm39) missense possibly damaging 0.94
R1916:Mycbp2 UTSW 14 103,422,319 (GRCm39) missense probably damaging 1.00
R1944:Mycbp2 UTSW 14 103,466,840 (GRCm39) missense probably damaging 1.00
R1983:Mycbp2 UTSW 14 103,383,407 (GRCm39) missense probably damaging 0.97
R2002:Mycbp2 UTSW 14 103,485,839 (GRCm39) missense probably damaging 0.98
R2031:Mycbp2 UTSW 14 103,426,028 (GRCm39) missense probably damaging 1.00
R2035:Mycbp2 UTSW 14 103,497,675 (GRCm39) missense probably damaging 1.00
R2048:Mycbp2 UTSW 14 103,469,960 (GRCm39) critical splice donor site probably null
R2061:Mycbp2 UTSW 14 103,524,696 (GRCm39) missense probably damaging 0.99
R2113:Mycbp2 UTSW 14 103,457,512 (GRCm39) missense probably damaging 0.99
R2128:Mycbp2 UTSW 14 103,438,666 (GRCm39) missense probably benign 0.01
R2134:Mycbp2 UTSW 14 103,446,329 (GRCm39) missense probably damaging 1.00
R2135:Mycbp2 UTSW 14 103,446,329 (GRCm39) missense probably damaging 1.00
R2135:Mycbp2 UTSW 14 103,383,378 (GRCm39) missense probably benign
R2146:Mycbp2 UTSW 14 103,393,358 (GRCm39) missense probably damaging 0.97
R2147:Mycbp2 UTSW 14 103,393,358 (GRCm39) missense probably damaging 0.97
R2148:Mycbp2 UTSW 14 103,393,358 (GRCm39) missense probably damaging 0.97
R2150:Mycbp2 UTSW 14 103,393,358 (GRCm39) missense probably damaging 0.97
R2163:Mycbp2 UTSW 14 103,407,291 (GRCm39) critical splice donor site probably null
R2248:Mycbp2 UTSW 14 103,407,295 (GRCm39) missense possibly damaging 0.50
R2265:Mycbp2 UTSW 14 103,500,185 (GRCm39) missense probably benign 0.39
R2272:Mycbp2 UTSW 14 103,381,774 (GRCm39) missense probably null 0.66
R2379:Mycbp2 UTSW 14 103,412,386 (GRCm39) missense probably benign
R2495:Mycbp2 UTSW 14 103,437,554 (GRCm39) missense probably damaging 0.99
R2508:Mycbp2 UTSW 14 103,368,681 (GRCm39) missense probably damaging 0.99
R2510:Mycbp2 UTSW 14 103,392,691 (GRCm39) missense probably damaging 0.96
R2851:Mycbp2 UTSW 14 103,381,769 (GRCm39) missense probably damaging 0.99
R2852:Mycbp2 UTSW 14 103,381,769 (GRCm39) missense probably damaging 0.99
R2965:Mycbp2 UTSW 14 103,534,794 (GRCm39) missense probably benign 0.00
R3156:Mycbp2 UTSW 14 103,446,179 (GRCm39) splice site probably benign
R3404:Mycbp2 UTSW 14 103,437,550 (GRCm39) missense probably damaging 0.99
R3410:Mycbp2 UTSW 14 103,372,553 (GRCm39) missense probably damaging 1.00
R3429:Mycbp2 UTSW 14 103,466,866 (GRCm39) missense probably damaging 1.00
R3706:Mycbp2 UTSW 14 103,393,850 (GRCm39) missense probably benign 0.31
R3772:Mycbp2 UTSW 14 103,371,224 (GRCm39) missense possibly damaging 0.82
R3778:Mycbp2 UTSW 14 103,434,721 (GRCm39) missense probably damaging 0.99
R3883:Mycbp2 UTSW 14 103,532,686 (GRCm39) missense probably damaging 0.97
R3884:Mycbp2 UTSW 14 103,532,686 (GRCm39) missense probably damaging 0.97
R3887:Mycbp2 UTSW 14 103,412,233 (GRCm39) missense probably damaging 0.98
R3923:Mycbp2 UTSW 14 103,364,149 (GRCm39) missense probably damaging 1.00
R3926:Mycbp2 UTSW 14 103,441,936 (GRCm39) missense probably damaging 1.00
R3959:Mycbp2 UTSW 14 103,532,688 (GRCm39) missense probably benign 0.00
R3966:Mycbp2 UTSW 14 103,376,161 (GRCm39) splice site probably benign
R4021:Mycbp2 UTSW 14 103,389,593 (GRCm39) missense probably damaging 0.97
R4363:Mycbp2 UTSW 14 103,485,893 (GRCm39) missense probably damaging 1.00
R4405:Mycbp2 UTSW 14 103,360,881 (GRCm39) missense probably damaging 1.00
R4407:Mycbp2 UTSW 14 103,524,664 (GRCm39) missense probably damaging 1.00
R4410:Mycbp2 UTSW 14 103,372,702 (GRCm39) missense probably damaging 1.00
R4434:Mycbp2 UTSW 14 103,371,225 (GRCm39) missense probably damaging 0.99
R4448:Mycbp2 UTSW 14 103,425,938 (GRCm39) missense possibly damaging 0.89
R4452:Mycbp2 UTSW 14 103,393,094 (GRCm39) missense probably damaging 0.99
R4573:Mycbp2 UTSW 14 103,583,733 (GRCm39) missense probably benign 0.05
R4589:Mycbp2 UTSW 14 103,414,749 (GRCm39) missense probably benign 0.04
R4621:Mycbp2 UTSW 14 103,457,415 (GRCm39) missense probably benign 0.12
R4622:Mycbp2 UTSW 14 103,457,415 (GRCm39) missense probably benign 0.12
R4729:Mycbp2 UTSW 14 103,426,027 (GRCm39) missense probably damaging 1.00
R4770:Mycbp2 UTSW 14 103,457,380 (GRCm39) missense probably benign 0.41
R4790:Mycbp2 UTSW 14 103,466,873 (GRCm39) missense probably damaging 1.00
R4884:Mycbp2 UTSW 14 103,448,731 (GRCm39) missense probably damaging 1.00
R4885:Mycbp2 UTSW 14 103,383,382 (GRCm39) missense possibly damaging 0.86
R4956:Mycbp2 UTSW 14 103,524,675 (GRCm39) missense probably damaging 0.99
R4980:Mycbp2 UTSW 14 103,497,821 (GRCm39) splice site probably null
R4994:Mycbp2 UTSW 14 103,407,430 (GRCm39) missense probably benign
R5029:Mycbp2 UTSW 14 103,393,946 (GRCm39) missense probably benign 0.21
R5038:Mycbp2 UTSW 14 103,534,375 (GRCm39) missense probably damaging 1.00
R5044:Mycbp2 UTSW 14 103,376,671 (GRCm39) critical splice donor site probably null
R5231:Mycbp2 UTSW 14 103,583,650 (GRCm39) critical splice donor site probably null
R5305:Mycbp2 UTSW 14 103,583,757 (GRCm39) missense probably benign 0.00
R5322:Mycbp2 UTSW 14 103,423,119 (GRCm39) critical splice acceptor site probably null
R5376:Mycbp2 UTSW 14 103,479,868 (GRCm39) nonsense probably null
R5414:Mycbp2 UTSW 14 103,543,697 (GRCm39) missense probably damaging 1.00
R5453:Mycbp2 UTSW 14 103,438,837 (GRCm39) missense probably damaging 0.99
R5462:Mycbp2 UTSW 14 103,437,562 (GRCm39) missense probably damaging 1.00
R5499:Mycbp2 UTSW 14 103,479,615 (GRCm39) missense probably damaging 1.00
R5502:Mycbp2 UTSW 14 103,411,250 (GRCm39) missense probably damaging 1.00
R5524:Mycbp2 UTSW 14 103,532,673 (GRCm39) missense probably damaging 1.00
R5533:Mycbp2 UTSW 14 103,520,081 (GRCm39) nonsense probably null
R5569:Mycbp2 UTSW 14 103,372,679 (GRCm39) missense probably damaging 1.00
R5574:Mycbp2 UTSW 14 103,380,203 (GRCm39) missense possibly damaging 0.94
R5579:Mycbp2 UTSW 14 103,528,769 (GRCm39) missense probably damaging 0.98
R5590:Mycbp2 UTSW 14 103,360,791 (GRCm39) missense probably damaging 1.00
R5592:Mycbp2 UTSW 14 103,432,113 (GRCm39) missense probably benign 0.02
R5643:Mycbp2 UTSW 14 103,524,770 (GRCm39) missense probably damaging 1.00
R5644:Mycbp2 UTSW 14 103,524,770 (GRCm39) missense probably damaging 1.00
R5645:Mycbp2 UTSW 14 103,426,051 (GRCm39) critical splice acceptor site probably null
R5645:Mycbp2 UTSW 14 103,426,044 (GRCm39) missense probably damaging 1.00
R5646:Mycbp2 UTSW 14 103,407,346 (GRCm39) missense probably benign 0.09
R5648:Mycbp2 UTSW 14 103,528,778 (GRCm39) missense probably damaging 1.00
R5651:Mycbp2 UTSW 14 103,520,101 (GRCm39) missense probably null 0.99
R5668:Mycbp2 UTSW 14 103,357,955 (GRCm39) missense possibly damaging 0.62
R5745:Mycbp2 UTSW 14 103,393,889 (GRCm39) missense possibly damaging 0.94
R5751:Mycbp2 UTSW 14 103,385,986 (GRCm39) missense probably damaging 0.99
R5756:Mycbp2 UTSW 14 103,371,410 (GRCm39) missense probably damaging 0.99
R5837:Mycbp2 UTSW 14 103,361,839 (GRCm39) missense probably damaging 1.00
R5984:Mycbp2 UTSW 14 103,364,120 (GRCm39) missense probably damaging 0.98
R6005:Mycbp2 UTSW 14 103,394,159 (GRCm39) missense probably benign
R6063:Mycbp2 UTSW 14 103,372,582 (GRCm39) missense probably damaging 1.00
R6091:Mycbp2 UTSW 14 103,460,482 (GRCm39) missense probably damaging 1.00
R6120:Mycbp2 UTSW 14 103,513,323 (GRCm39) missense probably benign 0.01
R6129:Mycbp2 UTSW 14 103,522,836 (GRCm39) missense probably benign 0.21
R6147:Mycbp2 UTSW 14 103,392,945 (GRCm39) nonsense probably null
R6161:Mycbp2 UTSW 14 103,536,183 (GRCm39) missense probably damaging 1.00
R6187:Mycbp2 UTSW 14 103,384,453 (GRCm39) missense probably damaging 1.00
R6208:Mycbp2 UTSW 14 103,532,664 (GRCm39) missense probably benign 0.11
R6228:Mycbp2 UTSW 14 103,497,665 (GRCm39) missense probably benign 0.24
R6301:Mycbp2 UTSW 14 103,392,862 (GRCm39) missense probably damaging 1.00
R6311:Mycbp2 UTSW 14 103,500,176 (GRCm39) missense possibly damaging 0.93
R6329:Mycbp2 UTSW 14 103,393,288 (GRCm39) missense probably benign 0.00
R6439:Mycbp2 UTSW 14 103,392,911 (GRCm39) missense probably benign 0.00
R6462:Mycbp2 UTSW 14 103,373,993 (GRCm39) critical splice donor site probably null
R6528:Mycbp2 UTSW 14 103,380,317 (GRCm39) missense probably damaging 0.99
R6736:Mycbp2 UTSW 14 103,429,003 (GRCm39) missense probably null 1.00
R6821:Mycbp2 UTSW 14 103,376,845 (GRCm39) missense probably damaging 1.00
R6851:Mycbp2 UTSW 14 103,497,630 (GRCm39) critical splice donor site probably null
R6948:Mycbp2 UTSW 14 103,522,703 (GRCm39) missense possibly damaging 0.94
R6977:Mycbp2 UTSW 14 103,392,342 (GRCm39) missense probably damaging 0.99
R6985:Mycbp2 UTSW 14 103,444,117 (GRCm39) missense possibly damaging 0.79
R7035:Mycbp2 UTSW 14 103,412,417 (GRCm39) missense probably benign
R7054:Mycbp2 UTSW 14 103,393,534 (GRCm39) missense possibly damaging 0.90
R7108:Mycbp2 UTSW 14 103,360,039 (GRCm39) missense probably damaging 1.00
R7117:Mycbp2 UTSW 14 103,391,513 (GRCm39) missense probably benign 0.21
R7137:Mycbp2 UTSW 14 103,520,115 (GRCm39) missense possibly damaging 0.94
R7169:Mycbp2 UTSW 14 103,497,636 (GRCm39) missense possibly damaging 0.78
R7218:Mycbp2 UTSW 14 103,371,282 (GRCm39) missense probably benign
R7234:Mycbp2 UTSW 14 103,452,773 (GRCm39) missense probably damaging 0.98
R7238:Mycbp2 UTSW 14 103,393,733 (GRCm39) missense probably damaging 1.00
R7244:Mycbp2 UTSW 14 103,446,345 (GRCm39) missense probably damaging 0.98
R7265:Mycbp2 UTSW 14 103,434,679 (GRCm39) critical splice donor site probably null
R7286:Mycbp2 UTSW 14 103,358,027 (GRCm39) missense probably damaging 1.00
R7332:Mycbp2 UTSW 14 103,434,793 (GRCm39) missense probably damaging 0.97
R7332:Mycbp2 UTSW 14 103,393,889 (GRCm39) missense probably damaging 1.00
R7384:Mycbp2 UTSW 14 103,513,829 (GRCm39) missense probably damaging 0.99
R7392:Mycbp2 UTSW 14 103,480,564 (GRCm39) missense probably damaging 0.99
R7392:Mycbp2 UTSW 14 103,389,627 (GRCm39) missense probably damaging 1.00
R7409:Mycbp2 UTSW 14 103,526,180 (GRCm39) missense probably damaging 1.00
R7486:Mycbp2 UTSW 14 103,434,690 (GRCm39) missense probably damaging 0.97
R7643:Mycbp2 UTSW 14 103,583,701 (GRCm39) missense probably benign
R7661:Mycbp2 UTSW 14 103,450,059 (GRCm39) missense probably damaging 1.00
R7663:Mycbp2 UTSW 14 103,429,045 (GRCm39) missense probably damaging 0.99
R7730:Mycbp2 UTSW 14 103,360,791 (GRCm39) missense probably damaging 0.99
R7757:Mycbp2 UTSW 14 103,429,055 (GRCm39) missense probably damaging 1.00
R7773:Mycbp2 UTSW 14 103,485,840 (GRCm39) missense probably damaging 0.97
R7787:Mycbp2 UTSW 14 103,364,533 (GRCm39) missense probably damaging 1.00
R7822:Mycbp2 UTSW 14 103,376,851 (GRCm39) missense probably benign 0.00
R7838:Mycbp2 UTSW 14 103,414,729 (GRCm39) missense probably benign 0.10
R7841:Mycbp2 UTSW 14 103,384,267 (GRCm39) critical splice donor site probably null
R7858:Mycbp2 UTSW 14 103,393,741 (GRCm39) missense probably damaging 1.00
R7873:Mycbp2 UTSW 14 103,393,582 (GRCm39) missense probably damaging 1.00
R7911:Mycbp2 UTSW 14 103,437,621 (GRCm39) missense probably damaging 0.99
R7942:Mycbp2 UTSW 14 103,392,674 (GRCm39) missense probably damaging 0.99
R7951:Mycbp2 UTSW 14 103,452,898 (GRCm39) missense probably damaging 0.99
R7958:Mycbp2 UTSW 14 103,367,400 (GRCm39) missense probably benign 0.00
R8235:Mycbp2 UTSW 14 103,436,110 (GRCm39) missense probably damaging 0.99
R8246:Mycbp2 UTSW 14 103,392,640 (GRCm39) missense probably damaging 0.99
R8338:Mycbp2 UTSW 14 103,372,701 (GRCm39) missense probably damaging 1.00
R8343:Mycbp2 UTSW 14 103,398,111 (GRCm39) splice site probably null
R8361:Mycbp2 UTSW 14 103,376,250 (GRCm39) missense probably damaging 1.00
R8490:Mycbp2 UTSW 14 103,446,267 (GRCm39) missense probably benign 0.00
R8524:Mycbp2 UTSW 14 103,392,895 (GRCm39) missense probably benign 0.23
R8525:Mycbp2 UTSW 14 103,450,155 (GRCm39) missense probably damaging 1.00
R8711:Mycbp2 UTSW 14 103,407,430 (GRCm39) missense probably benign 0.08
R8735:Mycbp2 UTSW 14 103,460,586 (GRCm39) missense probably damaging 0.99
R8825:Mycbp2 UTSW 14 103,466,871 (GRCm39) missense probably damaging 1.00
R8928:Mycbp2 UTSW 14 103,393,781 (GRCm39) missense probably benign
R8974:Mycbp2 UTSW 14 103,361,857 (GRCm39) missense probably damaging 1.00
R8987:Mycbp2 UTSW 14 103,446,232 (GRCm39) missense probably damaging 1.00
R9021:Mycbp2 UTSW 14 103,551,752 (GRCm39) missense probably benign 0.08
R9062:Mycbp2 UTSW 14 103,479,796 (GRCm39) missense probably benign 0.00
R9077:Mycbp2 UTSW 14 103,469,974 (GRCm39) missense probably damaging 1.00
R9208:Mycbp2 UTSW 14 103,532,664 (GRCm39) missense probably benign 0.01
R9285:Mycbp2 UTSW 14 103,434,753 (GRCm39) missense probably damaging 0.97
R9290:Mycbp2 UTSW 14 103,425,960 (GRCm39) missense probably damaging 0.99
R9362:Mycbp2 UTSW 14 103,497,642 (GRCm39) missense probably damaging 0.97
R9520:Mycbp2 UTSW 14 103,497,705 (GRCm39) missense probably benign 0.02
R9557:Mycbp2 UTSW 14 103,372,697 (GRCm39) missense probably benign 0.03
R9639:Mycbp2 UTSW 14 103,433,817 (GRCm39) missense probably damaging 1.00
R9666:Mycbp2 UTSW 14 103,371,474 (GRCm39) missense probably damaging 0.98
R9732:Mycbp2 UTSW 14 103,448,749 (GRCm39) missense probably damaging 1.00
R9736:Mycbp2 UTSW 14 103,434,852 (GRCm39) missense probably damaging 0.96
R9739:Mycbp2 UTSW 14 103,520,229 (GRCm39) missense probably benign 0.11
R9755:Mycbp2 UTSW 14 103,551,806 (GRCm39) missense probably benign
X0024:Mycbp2 UTSW 14 103,384,378 (GRCm39) missense probably damaging 1.00
Z1176:Mycbp2 UTSW 14 103,583,685 (GRCm39) missense probably benign
Z1176:Mycbp2 UTSW 14 103,394,073 (GRCm39) missense probably benign 0.06
Z1177:Mycbp2 UTSW 14 103,407,309 (GRCm39) missense possibly damaging 0.83
Z1177:Mycbp2 UTSW 14 103,372,559 (GRCm39) missense probably damaging 1.00
Z1177:Mycbp2 UTSW 14 103,364,499 (GRCm39) critical splice donor site probably null
Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to C transition at position 122339 in the Genbank genomic region NC_000080 for the Mycbp2 gene on chromosome 14 (TCCCGAGTAG ->TCCCGAGCAG). The mutation is located within intron 30, three nucleotides upstream from the start of exon 31, and may impair the acceptor splice site of intron 30. Mycbp2 contains 85 exons. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction
Mycbp2 encodes the 4711 amino acid MYC-binding protein 2 (MYCBP2). MYCBP2 is a probable E3 ubiquitin-protein ligase, mediating ubiquitination and subsequent proteasomal degradation of target proteins. MYCBP2 may have a role during synaptogenesis. The protein contains a B box-type zinc finger, a DOC domain, a filamin repeat, five RCC1 repeats, and a RING-type zinc finger (Uniprot Q7TPH6). The zinc finger and DOC domains are found in proteins with ubiquitin ligase activity. Filamin repeats are important for homodimerization, and RCC1 repeats are found in proteins that associate with GTP-binding proteins.  Mice homozygous for a targeted allele of Mycbp2 exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.
Posted On 2009-11-11