Incidental Mutation 'R1496:Mycbpap'
ID 168889
Institutional Source Beutler Lab
Gene Symbol Mycbpap
Ensembl Gene ENSMUSG00000039110
Gene Name MYCBP associated protein
Synonyms 4932408B01Rik, AMAP-1
MMRRC Submission 039547-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R1496 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94392173-94412568 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94396387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 151 (K151R)
Ref Sequence ENSEMBL: ENSMUSP00000047579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040692] [ENSMUST00000093945]
AlphaFold Q5SUV2
Predicted Effect probably benign
Transcript: ENSMUST00000040692
AA Change: K151R

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000047579
Gene: ENSMUSG00000039110
AA Change: K151R

DomainStartEndE-ValueType
Pfam:MYCBPAP 6 85 2.3e-19 PFAM
low complexity region 330 342 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093945
AA Change: K669R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000091477
Gene: ENSMUSG00000039110
AA Change: K669R

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
low complexity region 164 176 N/A INTRINSIC
Pfam:MYCBPAP 184 602 3.7e-144 PFAM
low complexity region 848 860 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151993
Meta Mutation Damage Score 0.0942 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 98% (94/96)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A G 9: 46,221,552 (GRCm39) probably benign Het
4933411K16Rik T C 19: 42,041,489 (GRCm39) Y207H probably damaging Het
Abcc1 T A 16: 14,266,298 (GRCm39) L832Q probably damaging Het
Acan T A 7: 78,750,552 (GRCm39) H1774Q probably benign Het
Adss2 T C 1: 177,599,760 (GRCm39) T275A probably benign Het
Ano5 G A 7: 51,233,523 (GRCm39) R595H probably damaging Het
Araf G T X: 20,725,943 (GRCm39) R522L probably damaging Het
Arhgef28 C T 13: 98,102,054 (GRCm39) V807I possibly damaging Het
Bin1 T C 18: 32,545,757 (GRCm39) I103T probably damaging Het
C4b C T 17: 34,958,995 (GRCm39) R478Q probably benign Het
Cacna1b G A 2: 24,568,047 (GRCm39) P1015S probably benign Het
Capn1 A G 19: 6,057,528 (GRCm39) probably null Het
Cep290 A G 10: 100,374,828 (GRCm39) Q1358R probably damaging Het
Cfap126 T C 1: 170,953,386 (GRCm39) probably benign Het
Chn1 T C 2: 73,509,951 (GRCm39) probably benign Het
Cldn8 T C 16: 88,359,289 (GRCm39) E212G probably benign Het
Cpb1 T C 3: 20,317,696 (GRCm39) N249S probably damaging Het
Cxcr6 A T 9: 123,639,412 (GRCm39) I138F probably benign Het
Dab2ip G A 2: 35,608,803 (GRCm39) R579H probably damaging Het
Dcaf8 T C 1: 172,021,422 (GRCm39) M538T probably benign Het
Dhrs4 T G 14: 55,725,107 (GRCm39) L201V probably damaging Het
Dnah12 C T 14: 26,431,403 (GRCm39) A407V probably benign Het
Elavl3 T A 9: 21,937,461 (GRCm39) probably benign Het
Elp4 T C 2: 105,662,506 (GRCm39) H88R probably benign Het
Ercc3 T C 18: 32,394,350 (GRCm39) probably benign Het
Eri1 A G 8: 35,936,335 (GRCm39) S329P possibly damaging Het
Erich2 A T 2: 70,343,117 (GRCm39) probably benign Het
Esyt1 A G 10: 128,348,297 (GRCm39) S864P possibly damaging Het
Fam170b A G 14: 32,557,588 (GRCm39) E141G probably damaging Het
Fat1 A G 8: 45,486,427 (GRCm39) Y3304C probably damaging Het
Fbn1 T C 2: 125,151,415 (GRCm39) T2531A probably benign Het
Fgfr3 T C 5: 33,887,094 (GRCm39) V166A probably damaging Het
Glt8d2 T C 10: 82,495,372 (GRCm39) D194G probably damaging Het
Gpr89 A G 3: 96,812,526 (GRCm39) I5T probably benign Het
Gpx6 A T 13: 21,503,090 (GRCm39) H168L probably benign Het
Gusb T C 5: 130,027,385 (GRCm39) T307A probably benign Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Ifngr1 A G 10: 19,477,193 (GRCm39) D118G probably benign Het
Ipcef1 A T 10: 6,885,173 (GRCm39) probably null Het
Kbtbd3 A T 9: 4,330,276 (GRCm39) T217S probably benign Het
Kmt5a GAA GA 5: 124,597,948 (GRCm39) probably null Het
Lrp1 T C 10: 127,374,880 (GRCm39) D4526G probably damaging Het
Lrp1b A T 2: 42,213,674 (GRCm39) V46D probably damaging Het
Lsm8 T A 6: 18,849,658 (GRCm39) M22K probably benign Het
Map1lc3b C T 8: 122,323,339 (GRCm39) R70C possibly damaging Het
Meiob T A 17: 25,032,026 (GRCm39) S14T possibly damaging Het
Mkx G T 18: 6,992,330 (GRCm39) Y183* probably null Het
Mrs2 T C 13: 25,189,017 (GRCm39) Y99C probably benign Het
Neb T G 2: 52,218,746 (GRCm39) Q88P probably damaging Het
Noc4l T A 5: 110,797,944 (GRCm39) H319L probably damaging Het
Nt5c2 G A 19: 46,893,417 (GRCm39) T122I probably damaging Het
Nuggc A T 14: 65,861,582 (GRCm39) N476I probably damaging Het
Obscn T A 11: 58,921,862 (GRCm39) H5978L probably benign Het
Oc90 G T 15: 65,748,370 (GRCm39) A412D probably damaging Het
Or2l13b T A 16: 19,349,133 (GRCm39) D179V possibly damaging Het
Or3a4 A G 11: 73,944,650 (GRCm39) *312Q probably null Het
Or4a76 A G 2: 89,460,358 (GRCm39) S295P possibly damaging Het
Or5w18 T G 2: 87,633,212 (GRCm39) S160A probably benign Het
Or7a42 T A 10: 78,791,682 (GRCm39) S214R probably benign Het
Or8k33 A T 2: 86,384,096 (GRCm39) V124E probably damaging Het
Pdzrn3 A T 6: 101,127,930 (GRCm39) V912E probably benign Het
Phactr1 T A 13: 43,248,466 (GRCm39) Y387N probably damaging Het
Picalm T A 7: 89,779,859 (GRCm39) C27S probably benign Het
Pkd1l1 T A 11: 8,891,077 (GRCm39) I314F possibly damaging Het
Pold2 T C 11: 5,824,175 (GRCm39) E210G possibly damaging Het
Ptprz1 C T 6: 23,049,523 (GRCm39) probably benign Het
Rac1 G T 5: 143,493,093 (GRCm39) A165E probably damaging Het
Rpap3 G T 15: 97,584,364 (GRCm39) T360K possibly damaging Het
Scn9a G A 2: 66,357,232 (GRCm39) T1012I probably benign Het
Sdad1 A G 5: 92,457,682 (GRCm39) I20T possibly damaging Het
Setbp1 T G 18: 78,903,127 (GRCm39) K180T probably damaging Het
Sgpl1 T C 10: 60,938,368 (GRCm39) N475S probably damaging Het
Shroom3 T C 5: 93,090,693 (GRCm39) S1148P possibly damaging Het
Sin3a T A 9: 57,026,442 (GRCm39) H1119Q possibly damaging Het
Slc26a7 T A 4: 14,506,489 (GRCm39) Y620F probably benign Het
Slc4a1 T C 11: 102,251,997 (GRCm39) I36V probably benign Het
Smarca2 C G 19: 26,608,501 (GRCm39) P263A possibly damaging Het
Sp100 T C 1: 85,591,242 (GRCm39) probably benign Het
Spag6l A G 16: 16,598,478 (GRCm39) probably benign Het
Sptbn1 T C 11: 30,071,498 (GRCm39) N1491S probably damaging Het
Tbl1xr1 T G 3: 22,245,115 (GRCm39) V155G possibly damaging Het
Tmc1 A G 19: 20,845,719 (GRCm39) I168T probably damaging Het
Tmem87b G A 2: 128,668,313 (GRCm39) probably null Het
Tnfrsf9 T A 4: 151,017,561 (GRCm39) probably null Het
Tnni3k T C 3: 154,645,295 (GRCm39) D530G probably damaging Het
Vmn1r209 G A 13: 22,989,934 (GRCm39) S252F probably damaging Het
Zbtb3 A T 19: 8,780,714 (GRCm39) N109I probably damaging Het
Zdhhc17 T G 10: 110,782,071 (GRCm39) H541P probably damaging Het
Zfp84 A G 7: 29,476,039 (GRCm39) I244V possibly damaging Het
Zyx A G 6: 42,333,246 (GRCm39) Y393C probably damaging Het
Other mutations in Mycbpap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Mycbpap APN 11 94,400,145 (GRCm39) splice site probably null
IGL01372:Mycbpap APN 11 94,397,282 (GRCm39) missense possibly damaging 0.56
IGL01627:Mycbpap APN 11 94,405,430 (GRCm39) missense probably damaging 0.98
IGL01645:Mycbpap APN 11 94,394,293 (GRCm39) splice site probably null
IGL01712:Mycbpap APN 11 94,403,481 (GRCm39) missense possibly damaging 0.50
IGL02209:Mycbpap APN 11 94,400,708 (GRCm39) splice site probably benign
IGL02377:Mycbpap APN 11 94,394,076 (GRCm39) missense probably damaging 1.00
IGL03088:Mycbpap APN 11 94,404,769 (GRCm39) critical splice acceptor site probably null
IGL03412:Mycbpap APN 11 94,398,927 (GRCm39) splice site probably null
IGL03046:Mycbpap UTSW 11 94,396,543 (GRCm39) missense possibly damaging 0.84
P0008:Mycbpap UTSW 11 94,394,893 (GRCm39) missense probably damaging 1.00
R0053:Mycbpap UTSW 11 94,402,562 (GRCm39) missense probably damaging 1.00
R0053:Mycbpap UTSW 11 94,402,562 (GRCm39) missense probably damaging 1.00
R0437:Mycbpap UTSW 11 94,404,338 (GRCm39) splice site probably benign
R0706:Mycbpap UTSW 11 94,404,612 (GRCm39) nonsense probably null
R0791:Mycbpap UTSW 11 94,402,449 (GRCm39) critical splice donor site probably null
R1522:Mycbpap UTSW 11 94,402,449 (GRCm39) critical splice donor site probably null
R1698:Mycbpap UTSW 11 94,398,969 (GRCm39) nonsense probably null
R1796:Mycbpap UTSW 11 94,398,377 (GRCm39) missense probably damaging 1.00
R1906:Mycbpap UTSW 11 94,396,447 (GRCm39) missense probably benign 0.24
R4115:Mycbpap UTSW 11 94,403,051 (GRCm39) splice site probably null
R4930:Mycbpap UTSW 11 94,393,983 (GRCm39) missense probably benign 0.20
R4965:Mycbpap UTSW 11 94,395,764 (GRCm39) missense probably damaging 1.00
R5323:Mycbpap UTSW 11 94,394,330 (GRCm39) missense probably benign 0.00
R5326:Mycbpap UTSW 11 94,398,572 (GRCm39) splice site probably null
R5542:Mycbpap UTSW 11 94,398,572 (GRCm39) splice site probably null
R5625:Mycbpap UTSW 11 94,396,519 (GRCm39) missense probably damaging 0.99
R5841:Mycbpap UTSW 11 94,396,436 (GRCm39) missense probably damaging 1.00
R5996:Mycbpap UTSW 11 94,404,420 (GRCm39) missense probably benign
R6065:Mycbpap UTSW 11 94,399,013 (GRCm39) splice site probably null
R6192:Mycbpap UTSW 11 94,398,557 (GRCm39) missense probably damaging 1.00
R7027:Mycbpap UTSW 11 94,405,440 (GRCm39) missense probably damaging 1.00
R7329:Mycbpap UTSW 11 94,400,073 (GRCm39) missense probably damaging 1.00
R7513:Mycbpap UTSW 11 94,394,382 (GRCm39) missense probably damaging 1.00
R8485:Mycbpap UTSW 11 94,405,359 (GRCm39) missense probably benign 0.01
R8485:Mycbpap UTSW 11 94,402,534 (GRCm39) missense probably damaging 0.96
R8985:Mycbpap UTSW 11 94,404,722 (GRCm39) missense probably benign 0.42
R9116:Mycbpap UTSW 11 94,398,032 (GRCm39) intron probably benign
R9173:Mycbpap UTSW 11 94,397,209 (GRCm39) missense probably damaging 1.00
R9413:Mycbpap UTSW 11 94,392,321 (GRCm39) missense probably damaging 1.00
R9428:Mycbpap UTSW 11 94,393,995 (GRCm39) missense probably damaging 1.00
Z1177:Mycbpap UTSW 11 94,400,680 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCCTTAAGAGTCACAGGGTCAC -3'
(R):5'- TCCTCAAGGCAAAGGGAGAACTCG -3'

Sequencing Primer
(F):5'- AGGGTCACCTGTCTGAAGTC -3'
(R):5'- GTTGCATTACCAGCATCAAGTGG -3'
Posted On 2014-04-13