Incidental Mutation 'R2030:Gm4787'
ID 221165
Institutional Source Beutler Lab
Gene Symbol Gm4787
Ensembl Gene ENSMUSG00000072974
Gene Name predicted gene 4787
Synonyms
MMRRC Submission 040037-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R2030 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 81376991-81379464 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81378770 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 205 (V205I)
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: V205I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: V205I

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik C T 4: 42,974,131 (GRCm38) Q1155* probably null Het
Adtrp C T 13: 41,828,259 (GRCm38) V13I probably damaging Het
Ak2 A G 4: 129,008,220 (GRCm38) K229E probably benign Het
Atp13a4 A T 16: 29,422,684 (GRCm38) V741D probably damaging Het
Bdp1 A T 13: 100,061,189 (GRCm38) M896K probably benign Het
Ccser1 C T 6: 61,311,563 (GRCm38) R237C probably benign Het
Cdk7 A G 13: 100,722,674 (GRCm38) probably benign Het
CK137956 A G 4: 127,951,387 (GRCm38) S188P probably benign Het
Dab1 C T 4: 104,731,751 (GRCm38) A524V probably benign Het
Dbndd2 A G 2: 164,488,643 (GRCm38) D72G probably damaging Het
Disp3 A T 4: 148,259,966 (GRCm38) I493N probably damaging Het
Epx T C 11: 87,864,824 (GRCm38) D678G probably damaging Het
Fbxw5 G T 2: 25,504,798 (GRCm38) V235L probably damaging Het
Fmo4 T A 1: 162,794,172 (GRCm38) D490V probably damaging Het
Fuca2 A G 10: 13,506,774 (GRCm38) Y268C probably damaging Het
Gpat3 G A 5: 100,897,821 (GRCm38) R437K probably benign Het
Herc2 A G 7: 56,184,373 (GRCm38) S3109G probably damaging Het
Hr G A 14: 70,571,448 (GRCm38) R1117H probably damaging Het
Htra4 T A 8: 25,033,577 (GRCm38) D324V probably damaging Het
Kcnd3 A G 3: 105,459,537 (GRCm38) Y241C probably damaging Het
Kcp G A 6: 29,489,072 (GRCm38) L1072F probably damaging Het
Lrrc52 T C 1: 167,466,459 (GRCm38) N86D probably benign Het
Mindy4 A G 6: 55,211,262 (GRCm38) T26A probably damaging Het
Mre11a A T 9: 14,795,805 (GRCm38) N117Y probably damaging Het
Mrgprb1 A T 7: 48,447,328 (GRCm38) S279T possibly damaging Het
Myh13 T G 11: 67,350,238 (GRCm38) S814A probably benign Het
Ncapd2 A G 6: 125,176,715 (GRCm38) V679A possibly damaging Het
Nipbl A T 15: 8,350,287 (GRCm38) V1007D probably damaging Het
Nlrp12 T A 7: 3,228,417 (GRCm38) H960L probably damaging Het
Olfr1245 C T 2: 89,575,214 (GRCm38) V171I probably benign Het
Olfr402 T A 11: 74,155,943 (GRCm38) M263K possibly damaging Het
Olfr860 A G 9: 19,846,413 (GRCm38) S69P probably benign Het
Pklr A G 3: 89,143,238 (GRCm38) Y402C probably damaging Het
Prdm2 T C 4: 143,132,764 (GRCm38) T1319A possibly damaging Het
Rif1 T A 2: 52,092,346 (GRCm38) V541E probably damaging Het
Ryk T A 9: 102,881,656 (GRCm38) I248N possibly damaging Het
Shisa2 A T 14: 59,629,685 (GRCm38) I129F probably damaging Het
Snap25 T G 2: 136,770,053 (GRCm38) probably benign Het
Snx31 G A 15: 36,525,702 (GRCm38) P284S probably benign Het
Tas2r137 A G 6: 40,492,220 (GRCm38) K328R possibly damaging Het
Tas2r140 T C 6: 133,055,250 (GRCm38) T182A probably benign Het
Thumpd2 G A 17: 81,064,958 (GRCm38) R35C probably damaging Het
Tnxb A T 17: 34,718,469 (GRCm38) N3811Y probably damaging Het
Tpte A C 8: 22,345,885 (GRCm38) N428T probably damaging Het
Trpm6 A G 19: 18,854,265 (GRCm38) D1498G probably benign Het
Tsc2 C T 17: 24,623,470 (GRCm38) probably benign Het
Ttn C T 2: 76,872,933 (GRCm38) probably benign Het
Wdr24 A G 17: 25,826,043 (GRCm38) I251V probably benign Het
Wdr92 A T 11: 17,229,832 (GRCm38) T278S probably benign Het
Zc3h6 T C 2: 129,006,086 (GRCm38) Y278H probably damaging Het
Zfat A G 15: 68,118,934 (GRCm38) probably null Het
Zfp442 A T 2: 150,408,122 (GRCm38) V620E possibly damaging Het
Zfp788 A G 7: 41,649,560 (GRCm38) H540R probably damaging 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
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
R8480:Gm4787 UTSW 12 81,377,506 (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'- TTGTCATTCCAAATACACGCAG -3'
(R):5'- CTGGAGGTCTGAAAGGCATG -3'

Sequencing Primer
(F):5'- GCACGCGCGAACACAAAC -3'
(R):5'- GCATGATACAGGTAGATGACTTCAC -3'
Posted On 2014-08-25