Incidental Mutation 'R8480:Gm4787'
ID 657490
Institutional Source Beutler Lab
Gene Symbol Gm4787
Ensembl Gene ENSMUSG00000072974
Gene Name predicted gene 4787
Synonyms
MMRRC Submission 067924-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R8480 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 81376991-81379464 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81377506 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 626 (D626V)
Ref Sequence ENSEMBL: ENSMUSP00000077390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062182] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]
AlphaFold B2RUD9
Predicted Effect probably damaging
Transcript: ENSMUST00000062182
AA Change: D626V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: D626V

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Pep_M12B_propep 46 163 1.5e-19 PFAM
Pfam:Reprolysin 213 406 4.6e-18 PFAM
DISIN 425 500 2e-33 SMART
ACR 501 644 2.83e-53 SMART
transmembrane domain 714 736 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110340
SMART Domains Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

DomainStartEndE-ValueType
Pfam:COX16 16 74 6.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164386
SMART Domains Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

DomainStartEndE-ValueType
PDZ 21 100 6.16e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166723
SMART Domains Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

DomainStartEndE-ValueType
Pfam:COX16 16 73 6.9e-16 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,187,458 (GRCm38) P720Q possibly damaging Het
Acvr1b G A 15: 101,210,839 (GRCm38) V499M possibly damaging Het
Adam5 G A 8: 24,804,459 (GRCm38) Q375* probably null Het
Adgrf1 G A 17: 43,295,164 (GRCm38) E60K probably benign Het
Alb T C 5: 90,462,771 (GRCm38) V70A probably damaging Het
Aph1b T A 9: 66,788,427 (GRCm38) probably benign Het
Aste1 A T 9: 105,397,796 (GRCm38) T351S probably damaging Het
Aste1 G A 9: 105,396,990 (GRCm38) R143Q possibly damaging Het
Bace2 T A 16: 97,413,470 (GRCm38) L286Q probably damaging Het
Bach1 G A 16: 87,719,275 (GRCm38) G235R probably damaging Het
Brwd1 A T 16: 96,047,430 (GRCm38) H516Q probably damaging Het
Cc2d2a C A 5: 43,685,144 (GRCm38) probably null Het
Cdh22 T A 2: 165,146,726 (GRCm38) E236D probably benign Het
Celsr1 G T 15: 86,033,085 (GRCm38) S229* probably null Het
Celsr2 T A 3: 108,398,902 (GRCm38) T2029S probably benign Het
Col11a1 A G 3: 114,181,394 (GRCm38) D1234G probably benign Het
Cpt2 A G 4: 107,907,760 (GRCm38) I269T probably damaging Het
Dcaf7 T A 11: 106,054,793 (GRCm38) S323T probably benign Het
Ddias G T 7: 92,859,400 (GRCm38) Q436K probably benign Het
Dlec1 G A 9: 119,143,267 (GRCm38) probably null Het
Dock5 T A 14: 67,836,410 (GRCm38) I294F probably benign Het
Fat2 A T 11: 55,282,968 (GRCm38) D2306E possibly damaging Het
Gm6563 A G 19: 23,675,926 (GRCm38) T27A probably benign Het
Hadhb T C 5: 30,168,570 (GRCm38) probably null Het
Hsph1 A T 5: 149,627,564 (GRCm38) W406R probably null Het
Ighv1-66 C T 12: 115,593,382 (GRCm38) G27R possibly damaging Het
Impad1 C T 4: 4,769,376 (GRCm38) M246I probably benign Het
Krt26 T C 11: 99,337,600 (GRCm38) E102G probably damaging Het
Krt34 T A 11: 100,040,145 (GRCm38) probably null Het
Krt36 T C 11: 100,102,809 (GRCm38) D401G possibly damaging Het
Loxhd1 G A 18: 77,431,131 (GRCm38) G326S probably damaging Het
Lrrc8b A G 5: 105,485,936 (GRCm38) N758S probably damaging Het
Mkl2 A T 16: 13,384,192 (GRCm38) probably null Het
Muc4 C T 16: 32,752,993 (GRCm38) T957I probably benign Het
Naip5 T C 13: 100,222,235 (GRCm38) Y831C probably damaging Het
Nfatc1 A T 18: 80,635,644 (GRCm38) V829E probably benign Het
Nmnat1 G A 4: 149,473,370 (GRCm38) L72F possibly damaging Het
Olfr1316 A T 2: 112,129,985 (GRCm38) D275E possibly damaging Het
Pcdh7 T A 5: 58,129,065 (GRCm38) V1161E probably damaging Het
Raver1 A G 9: 21,090,280 (GRCm38) Y86H probably benign Het
Recql4 G T 15: 76,704,505 (GRCm38) H1035Q probably benign Het
Sgsm1 A T 5: 113,263,418 (GRCm38) M814K probably benign Het
Sh3d19 T G 3: 86,084,877 (GRCm38) W71G probably benign Het
Sidt1 T C 16: 44,245,166 (GRCm38) Y759C probably damaging Het
Spg11 G T 2: 122,113,079 (GRCm38) D197E probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,866,069 (GRCm38) probably null Het
Ssc5d A T 7: 4,936,329 (GRCm38) D588V probably damaging Het
Supt20 C A 3: 54,707,116 (GRCm38) T181K probably damaging Het
Szt2 A T 4: 118,386,818 (GRCm38) S1363R probably benign Het
Tbcel G A 9: 42,463,873 (GRCm38) probably null Het
Ube2e3 T C 2: 78,918,814 (GRCm38) L169P probably damaging Het
Wrn A G 8: 33,288,768 (GRCm38) F595S probably benign Het
Zfp473 G T 7: 44,732,899 (GRCm38) P670Q probably damaging Het
Zw10 C T 9: 49,074,999 (GRCm38) A660V probably benign Het
Other mutations in Gm4787
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01719:Gm4787 APN 12 81,377,174 (GRCm38) missense possibly damaging 0.50
IGL01916:Gm4787 APN 12 81,377,444 (GRCm38) missense probably benign 0.36
IGL02193:Gm4787 APN 12 81,378,528 (GRCm38) missense probably benign 0.02
IGL02623:Gm4787 APN 12 81,378,728 (GRCm38) missense probably damaging 1.00
IGL02681:Gm4787 APN 12 81,378,769 (GRCm38) missense possibly damaging 0.88
IGL03257:Gm4787 APN 12 81,378,052 (GRCm38) missense probably damaging 1.00
IGL03410:Gm4787 APN 12 81,379,174 (GRCm38) missense probably damaging 1.00
F5770:Gm4787 UTSW 12 81,377,567 (GRCm38) nonsense probably null
PIT4362001:Gm4787 UTSW 12 81,377,175 (GRCm38) missense probably benign
R0070:Gm4787 UTSW 12 81,379,066 (GRCm38) missense probably damaging 1.00
R0128:Gm4787 UTSW 12 81,377,747 (GRCm38) nonsense probably null
R0220:Gm4787 UTSW 12 81,378,648 (GRCm38) missense probably damaging 0.98
R0304:Gm4787 UTSW 12 81,378,934 (GRCm38) missense probably damaging 1.00
R0513:Gm4787 UTSW 12 81,378,312 (GRCm38) missense probably benign 0.03
R1761:Gm4787 UTSW 12 81,377,176 (GRCm38) missense probably benign 0.02
R1809:Gm4787 UTSW 12 81,378,529 (GRCm38) missense possibly damaging 0.91
R1853:Gm4787 UTSW 12 81,378,334 (GRCm38) missense probably damaging 1.00
R1854:Gm4787 UTSW 12 81,378,334 (GRCm38) missense probably damaging 1.00
R2030:Gm4787 UTSW 12 81,378,770 (GRCm38) missense probably damaging 1.00
R2063:Gm4787 UTSW 12 81,378,920 (GRCm38) missense probably benign 0.39
R2112:Gm4787 UTSW 12 81,377,833 (GRCm38) missense probably damaging 1.00
R2140:Gm4787 UTSW 12 81,378,562 (GRCm38) missense probably benign 0.03
R2151:Gm4787 UTSW 12 81,377,219 (GRCm38) missense probably benign 0.00
R2152:Gm4787 UTSW 12 81,377,219 (GRCm38) missense probably benign 0.00
R2342:Gm4787 UTSW 12 81,378,758 (GRCm38) missense possibly damaging 0.91
R2504:Gm4787 UTSW 12 81,379,137 (GRCm38) missense possibly damaging 0.93
R4038:Gm4787 UTSW 12 81,378,358 (GRCm38) missense probably damaging 1.00
R4604:Gm4787 UTSW 12 81,379,213 (GRCm38) missense probably benign 0.17
R4748:Gm4787 UTSW 12 81,378,056 (GRCm38) missense probably damaging 1.00
R4750:Gm4787 UTSW 12 81,378,367 (GRCm38) missense possibly damaging 0.95
R4928:Gm4787 UTSW 12 81,378,838 (GRCm38) missense probably benign 0.03
R4960:Gm4787 UTSW 12 81,379,316 (GRCm38) missense probably damaging 0.99
R4974:Gm4787 UTSW 12 81,377,629 (GRCm38) missense probably damaging 0.99
R5028:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5029:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5031:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5098:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5099:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5100:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5101:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5135:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5152:Gm4787 UTSW 12 81,378,677 (GRCm38) missense probably benign 0.02
R5180:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5220:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5257:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5258:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5297:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5324:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5325:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5355:Gm4787 UTSW 12 81,377,465 (GRCm38) nonsense probably null
R5364:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5396:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5397:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5398:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5514:Gm4787 UTSW 12 81,378,328 (GRCm38) missense possibly damaging 0.90
R5634:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5666:Gm4787 UTSW 12 81,378,031 (GRCm38) missense probably benign 0.23
R5670:Gm4787 UTSW 12 81,378,031 (GRCm38) missense probably benign 0.23
R5787:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5788:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R6354:Gm4787 UTSW 12 81,377,981 (GRCm38) missense probably damaging 1.00
R6932:Gm4787 UTSW 12 81,379,200 (GRCm38) missense probably benign 0.04
R7120:Gm4787 UTSW 12 81,378,486 (GRCm38) missense probably benign 0.00
R7237:Gm4787 UTSW 12 81,377,668 (GRCm38) missense probably damaging 0.99
R7937:Gm4787 UTSW 12 81,377,905 (GRCm38) missense probably benign 0.01
R8022:Gm4787 UTSW 12 81,377,720 (GRCm38) missense possibly damaging 0.94
R8140:Gm4787 UTSW 12 81,378,151 (GRCm38) missense probably benign 0.00
R8314:Gm4787 UTSW 12 81,379,135 (GRCm38) missense probably damaging 1.00
R8498:Gm4787 UTSW 12 81,379,066 (GRCm38) missense probably damaging 1.00
R8515:Gm4787 UTSW 12 81,377,269 (GRCm38) missense probably benign 0.00
R9103:Gm4787 UTSW 12 81,378,715 (GRCm38) missense probably benign 0.06
R9457:Gm4787 UTSW 12 81,379,246 (GRCm38) missense probably damaging 1.00
R9557:Gm4787 UTSW 12 81,379,300 (GRCm38) nonsense probably null
R9608:Gm4787 UTSW 12 81,378,312 (GRCm38) missense probably benign 0.03
V7580:Gm4787 UTSW 12 81,377,567 (GRCm38) nonsense probably null
V7581:Gm4787 UTSW 12 81,377,567 (GRCm38) nonsense probably null
V7582:Gm4787 UTSW 12 81,377,567 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGGCCACTGTTTACACTAC -3'
(R):5'- AGGAGGAAGCCAAACTGTCC -3'

Sequencing Primer
(F):5'- ACTACCACCTTTTCCTCTTTGTAAAC -3'
(R):5'- CTGTCCCATGTCAAAAGGAGG -3'
Posted On 2021-01-18