Incidental Mutation 'IGL02506:Dip2b'
ID 296327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dip2b
Ensembl Gene ENSMUSG00000023026
Gene Name disco interacting protein 2 homolog B
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.636) question?
Stock # IGL02506
Quality Score
Status
Chromosome 15
Chromosomal Location 99936545-100117354 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100055162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 341 (L341Q)
Ref Sequence ENSEMBL: ENSMUSP00000097777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023768] [ENSMUST00000100203] [ENSMUST00000108971]
AlphaFold Q3UH60
Predicted Effect probably damaging
Transcript: ENSMUST00000023768
AA Change: L107Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: L107Q

DomainStartEndE-ValueType
Pfam:AMP-binding 109 584 9.5e-26 PFAM
Pfam:AMP-binding 760 1235 1.2e-52 PFAM
low complexity region 1299 1311 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100203
AA Change: L341Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: L341Q

DomainStartEndE-ValueType
DMAP_binding 12 130 1e-42 SMART
low complexity region 152 168 N/A INTRINSIC
low complexity region 181 192 N/A INTRINSIC
Pfam:AMP-binding 341 817 2e-26 PFAM
Pfam:AMP-binding 993 1468 1.8e-64 PFAM
low complexity region 1532 1544 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108971
AA Change: L107Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: L107Q

DomainStartEndE-ValueType
Pfam:AMP-binding 108 583 9.5e-26 PFAM
Pfam:AMP-binding 759 1234 1.2e-52 PFAM
low complexity region 1298 1310 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,916 (GRCm39) E189G possibly damaging Het
Acad11 T C 9: 103,968,931 (GRCm39) probably null Het
Adcy7 G T 8: 89,044,571 (GRCm39) R488L probably damaging Het
Akt1 C T 12: 112,625,714 (GRCm39) probably benign Het
Ano9 C T 7: 140,682,167 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,953,820 (GRCm39) D182G possibly damaging Het
Asxl3 T A 18: 22,585,456 (GRCm39) V127D probably benign Het
Cacna1g A G 11: 94,319,955 (GRCm39) M1407T probably damaging Het
Card9 A C 2: 26,244,427 (GRCm39) probably benign Het
Cdh5 A G 8: 104,864,454 (GRCm39) N472D probably damaging Het
Ceacam2 T A 7: 25,227,379 (GRCm39) T343S probably benign Het
Cic T A 7: 24,990,282 (GRCm39) C1928S probably benign Het
Clk3 C T 9: 57,661,927 (GRCm39) W31* probably null Het
Cntn4 A G 6: 106,595,349 (GRCm39) T489A probably benign Het
Crispld1 G A 1: 17,826,529 (GRCm39) R431H probably damaging Het
Crmp1 T A 5: 37,436,199 (GRCm39) probably benign Het
Cyld A G 8: 89,456,218 (GRCm39) T423A possibly damaging Het
Cyp3a44 A T 5: 145,736,198 (GRCm39) I84N probably damaging Het
D2hgdh A G 1: 93,757,507 (GRCm39) N141D probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fam227b T A 2: 125,845,831 (GRCm39) Y386F probably benign Het
Fmn1 A T 2: 113,355,640 (GRCm39) T694S unknown Het
Gcnt2 T A 13: 41,040,856 (GRCm39) V5E probably benign Het
Herpud1 G T 8: 95,121,270 (GRCm39) E355* probably null Het
Igf1r T C 7: 67,843,144 (GRCm39) S752P probably benign Het
Iqsec1 T C 6: 90,649,057 (GRCm39) I687V possibly damaging Het
Kdm5a T C 6: 120,409,110 (GRCm39) S1598P probably damaging Het
Klk1b9 A G 7: 43,445,063 (GRCm39) E185G probably benign Het
Myo16 G T 8: 10,440,217 (GRCm39) R423L probably damaging Het
Myo7b T C 18: 32,100,207 (GRCm39) E1609G probably damaging Het
Nom1 T A 5: 29,644,814 (GRCm39) probably benign Het
Nomo1 A G 7: 45,727,480 (GRCm39) I1040V possibly damaging Het
Or8b39 G A 9: 37,996,741 (GRCm39) G203D probably damaging Het
Paqr9 T C 9: 95,442,748 (GRCm39) V246A probably benign Het
Pfkfb4 A T 9: 108,859,404 (GRCm39) D437V probably benign Het
Phldb1 G T 9: 44,622,223 (GRCm39) D797E probably benign Het
Pkd1l3 A G 8: 110,374,132 (GRCm39) E1399G probably damaging Het
Plekhs1 G A 19: 56,460,198 (GRCm39) C97Y probably damaging Het
Plscr4 A T 9: 92,372,044 (GRCm39) I272L possibly damaging Het
Prlhr A C 19: 60,456,366 (GRCm39) Y67D probably damaging Het
Rab3gap2 A G 1: 184,984,221 (GRCm39) probably benign Het
Rad23b T C 4: 55,382,511 (GRCm39) V238A probably benign Het
Sel1l2 T C 2: 140,117,380 (GRCm39) T164A possibly damaging Het
Serpinh1 T A 7: 98,996,199 (GRCm39) K295M probably damaging Het
Slc45a4 T C 15: 73,453,687 (GRCm39) E770G probably benign Het
Spag4 T C 2: 155,911,142 (GRCm39) L390P probably damaging Het
Stip1 A G 19: 7,012,857 (GRCm39) probably benign Het
Tacr1 A G 6: 82,380,739 (GRCm39) N50S probably damaging Het
Tg T C 15: 66,613,443 (GRCm39) V433A possibly damaging Het
Ubap1l T A 9: 65,276,493 (GRCm39) probably benign Het
Usp40 A T 1: 87,909,738 (GRCm39) I572K probably damaging Het
Vps13b G T 15: 35,917,308 (GRCm39) E3717D probably damaging Het
Wdr81 T C 11: 75,335,232 (GRCm39) N1778S probably benign Het
Ylpm1 T A 12: 85,095,965 (GRCm39) F1162Y probably damaging Het
Zbtb10 T A 3: 9,330,297 (GRCm39) F552I probably damaging Het
Zfp507 T C 7: 35,475,891 (GRCm39) I811V probably damaging Het
Zfp663 A T 2: 165,195,871 (GRCm39) V116D probably benign Het
Other mutations in Dip2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Dip2b APN 15 100,072,382 (GRCm39) missense probably damaging 1.00
IGL01716:Dip2b APN 15 100,107,517 (GRCm39) missense probably benign 0.00
IGL01893:Dip2b APN 15 100,069,101 (GRCm39) splice site probably benign
IGL01915:Dip2b APN 15 100,076,392 (GRCm39) missense probably damaging 1.00
IGL02125:Dip2b APN 15 100,084,131 (GRCm39) missense possibly damaging 0.60
IGL02200:Dip2b APN 15 100,049,083 (GRCm39) missense possibly damaging 0.93
IGL02571:Dip2b APN 15 100,055,766 (GRCm39) missense possibly damaging 0.93
IGL02706:Dip2b APN 15 100,113,192 (GRCm39) missense probably damaging 0.98
IGL02983:Dip2b APN 15 100,029,903 (GRCm39) missense possibly damaging 0.81
IGL03120:Dip2b APN 15 100,101,008 (GRCm39) splice site probably benign
IGL03181:Dip2b APN 15 100,113,088 (GRCm39) missense probably damaging 0.98
IGL03229:Dip2b APN 15 100,105,719 (GRCm39) splice site probably benign
IGL03399:Dip2b APN 15 100,073,208 (GRCm39) missense possibly damaging 0.63
PIT4131001:Dip2b UTSW 15 100,100,233 (GRCm39) missense probably damaging 1.00
R0009:Dip2b UTSW 15 100,067,193 (GRCm39) missense probably damaging 1.00
R0058:Dip2b UTSW 15 100,113,121 (GRCm39) missense probably benign 0.03
R0058:Dip2b UTSW 15 100,113,121 (GRCm39) missense probably benign 0.03
R0092:Dip2b UTSW 15 100,100,146 (GRCm39) missense probably damaging 1.00
R0201:Dip2b UTSW 15 100,084,028 (GRCm39) missense probably damaging 0.98
R0359:Dip2b UTSW 15 100,109,874 (GRCm39) missense probably damaging 0.98
R0390:Dip2b UTSW 15 100,091,794 (GRCm39) missense probably damaging 0.99
R0564:Dip2b UTSW 15 100,060,600 (GRCm39) nonsense probably null
R0730:Dip2b UTSW 15 100,069,532 (GRCm39) missense probably damaging 1.00
R1144:Dip2b UTSW 15 100,052,131 (GRCm39) missense probably benign 0.11
R1200:Dip2b UTSW 15 100,107,626 (GRCm39) missense probably benign 0.00
R1506:Dip2b UTSW 15 100,080,994 (GRCm39) missense probably damaging 1.00
R1750:Dip2b UTSW 15 100,076,347 (GRCm39) missense probably benign
R1760:Dip2b UTSW 15 100,109,910 (GRCm39) missense probably damaging 1.00
R1773:Dip2b UTSW 15 100,091,842 (GRCm39) missense probably benign 0.00
R1812:Dip2b UTSW 15 100,096,819 (GRCm39) splice site probably null
R2264:Dip2b UTSW 15 100,101,097 (GRCm39) missense probably benign 0.05
R3105:Dip2b UTSW 15 100,040,018 (GRCm39) nonsense probably null
R4029:Dip2b UTSW 15 100,084,053 (GRCm39) missense probably damaging 1.00
R4030:Dip2b UTSW 15 100,084,053 (GRCm39) missense probably damaging 1.00
R4296:Dip2b UTSW 15 100,079,217 (GRCm39) missense probably benign
R4392:Dip2b UTSW 15 100,059,917 (GRCm39) missense probably damaging 1.00
R4480:Dip2b UTSW 15 100,084,182 (GRCm39) missense probably damaging 0.99
R4564:Dip2b UTSW 15 100,055,139 (GRCm39) nonsense probably null
R4605:Dip2b UTSW 15 100,107,517 (GRCm39) missense probably benign 0.00
R4606:Dip2b UTSW 15 100,113,210 (GRCm39) missense possibly damaging 0.91
R4634:Dip2b UTSW 15 100,058,372 (GRCm39) missense probably damaging 1.00
R4667:Dip2b UTSW 15 100,049,241 (GRCm39) missense probably benign 0.01
R4739:Dip2b UTSW 15 100,105,658 (GRCm39) missense probably damaging 0.98
R4826:Dip2b UTSW 15 100,067,162 (GRCm39) missense probably damaging 0.99
R4870:Dip2b UTSW 15 100,093,665 (GRCm39) splice site probably null
R4877:Dip2b UTSW 15 100,058,410 (GRCm39) missense possibly damaging 0.49
R4932:Dip2b UTSW 15 100,069,603 (GRCm39) missense probably damaging 1.00
R5009:Dip2b UTSW 15 100,093,665 (GRCm39) splice site probably null
R5169:Dip2b UTSW 15 100,102,994 (GRCm39) missense probably damaging 1.00
R5216:Dip2b UTSW 15 100,109,867 (GRCm39) missense probably damaging 1.00
R5218:Dip2b UTSW 15 100,052,177 (GRCm39) missense probably benign 0.00
R5274:Dip2b UTSW 15 100,109,985 (GRCm39) missense possibly damaging 0.54
R5370:Dip2b UTSW 15 100,109,867 (GRCm39) missense probably damaging 1.00
R5420:Dip2b UTSW 15 100,103,054 (GRCm39) intron probably benign
R5447:Dip2b UTSW 15 100,109,867 (GRCm39) missense probably damaging 1.00
R5670:Dip2b UTSW 15 100,087,985 (GRCm39) missense possibly damaging 0.80
R5768:Dip2b UTSW 15 100,055,826 (GRCm39) missense probably benign 0.32
R5908:Dip2b UTSW 15 100,049,065 (GRCm39) missense possibly damaging 0.93
R5957:Dip2b UTSW 15 100,107,575 (GRCm39) missense probably benign 0.03
R5987:Dip2b UTSW 15 100,087,960 (GRCm39) missense probably damaging 1.00
R6260:Dip2b UTSW 15 100,060,583 (GRCm39) missense probably benign 0.05
R6325:Dip2b UTSW 15 100,052,163 (GRCm39) missense probably benign 0.00
R6367:Dip2b UTSW 15 100,013,795 (GRCm39) missense possibly damaging 0.50
R6391:Dip2b UTSW 15 100,049,157 (GRCm39) missense probably damaging 1.00
R6422:Dip2b UTSW 15 100,096,892 (GRCm39) missense probably damaging 0.98
R6818:Dip2b UTSW 15 100,091,835 (GRCm39) missense probably benign 0.09
R6922:Dip2b UTSW 15 100,091,724 (GRCm39) missense probably benign 0.25
R7002:Dip2b UTSW 15 100,058,346 (GRCm39) missense probably benign 0.43
R7076:Dip2b UTSW 15 100,055,853 (GRCm39) splice site probably null
R7176:Dip2b UTSW 15 100,067,199 (GRCm39) missense probably damaging 1.00
R7255:Dip2b UTSW 15 100,107,508 (GRCm39) missense probably benign 0.00
R7463:Dip2b UTSW 15 100,052,038 (GRCm39) missense probably benign
R7513:Dip2b UTSW 15 100,105,629 (GRCm39) splice site probably null
R7876:Dip2b UTSW 15 100,088,922 (GRCm39) missense probably benign 0.02
R8368:Dip2b UTSW 15 100,052,124 (GRCm39) missense probably benign 0.00
R9289:Dip2b UTSW 15 100,071,152 (GRCm39) missense probably damaging 0.97
R9405:Dip2b UTSW 15 100,093,757 (GRCm39) missense probably benign 0.05
R9477:Dip2b UTSW 15 99,936,784 (GRCm39) missense probably damaging 1.00
R9485:Dip2b UTSW 15 100,052,924 (GRCm39) missense probably benign 0.05
R9533:Dip2b UTSW 15 100,073,178 (GRCm39) missense probably benign 0.06
R9581:Dip2b UTSW 15 100,079,255 (GRCm39) missense probably damaging 0.99
R9666:Dip2b UTSW 15 100,107,461 (GRCm39) missense probably damaging 1.00
X0064:Dip2b UTSW 15 100,013,731 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16