Incidental Mutation 'R8515:Gm4787'
ID 656101
Institutional Source Beutler Lab
Gene Symbol Gm4787
Ensembl Gene ENSMUSG00000072974
Gene Name predicted gene 4787
Synonyms
MMRRC Submission 067847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R8515 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 81376991-81379464 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81377269 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 705 (H705L)
Ref Sequence ENSEMBL: ENSMUSP00000077390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062182] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]
AlphaFold B2RUD9
Predicted Effect probably benign
Transcript: ENSMUST00000062182
AA Change: H705L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: H705L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T A 10: 82,288,602 (GRCm38) D2858V probably benign Het
Aak1 A G 6: 86,925,130 (GRCm38) M94V possibly damaging Het
Acss3 A G 10: 106,948,663 (GRCm38) I566T possibly damaging Het
Adcy3 T C 12: 4,212,187 (GRCm38) V1080A probably damaging Het
Aldh1b1 C T 4: 45,803,818 (GRCm38) T452I probably damaging Het
Bptf A T 11: 107,055,238 (GRCm38) S2392T possibly damaging Het
Ccnb2 A G 9: 70,413,100 (GRCm38) probably null Het
Clec4a4 T A 6: 123,004,023 (GRCm38) Y72N probably benign Het
Clk4 G A 11: 51,275,261 (GRCm38) R198Q probably damaging Het
Coro2a ACCAGAAGAGCCATCCAG ACCAG 4: 46,544,117 (GRCm38) probably null Het
Ctbs T A 3: 146,458,813 (GRCm38) Y240* probably null Het
Cyp2d22 T C 15: 82,373,912 (GRCm38) D169G probably benign Het
Dnah11 C T 12: 117,975,798 (GRCm38) V3196I probably damaging Het
Fam110b T C 4: 5,799,380 (GRCm38) V266A probably benign Het
Fbxo40 A G 16: 36,970,653 (GRCm38) S32P probably damaging Het
Grik1 A T 16: 87,923,282 (GRCm38) Y702* probably null Het
Hao2 A T 3: 98,883,647 (GRCm38) N70K probably benign Het
Heatr4 A G 12: 83,954,704 (GRCm38) I888T probably damaging Het
Herc4 T A 10: 63,315,786 (GRCm38) N935K probably benign Het
Kdm3b G T 18: 34,793,076 (GRCm38) A90S probably benign Het
Kif3b C T 2: 153,316,507 (GRCm38) T76M probably damaging Het
Kmo A T 1: 175,647,152 (GRCm38) H134L probably damaging Het
Lama3 C A 18: 12,411,631 (GRCm38) Q344K probably null Het
Man2a2 A T 7: 80,368,290 (GRCm38) F211I possibly damaging Het
Mmp19 T C 10: 128,795,602 (GRCm38) I189T probably benign Het
Muc4 G A 16: 32,755,255 (GRCm38) G1710S unknown Het
Myo15b G A 11: 115,858,784 (GRCm38) G127S Het
Naca T C 10: 128,044,243 (GRCm38) S1715P possibly damaging Het
Ndufs4 T C 13: 114,288,803 (GRCm38) N163S probably damaging Het
Nim1k G A 13: 119,712,450 (GRCm38) R303* probably null Het
Nkx6-3 A T 8: 23,153,691 (GRCm38) Y36F possibly damaging Het
Osbpl10 C A 9: 115,176,068 (GRCm38) Q188K probably benign Het
Pak6 G T 2: 118,689,997 (GRCm38) R156S probably benign Het
Pcf11 T A 7: 92,658,790 (GRCm38) K723N possibly damaging Het
Pcnx A G 12: 81,962,716 (GRCm38) Y546C possibly damaging Het
Pik3r6 A G 11: 68,539,957 (GRCm38) Y528C probably damaging Het
Ppp3cb T A 14: 20,531,776 (GRCm38) N57I probably benign Het
Preb A G 5: 30,959,378 (GRCm38) L57P probably damaging Het
Prkdc A G 16: 15,664,368 (GRCm38) D425G probably damaging Het
Rab35 G A 5: 115,643,408 (GRCm38) V90I probably damaging Het
Rab3gap2 G C 1: 185,262,820 (GRCm38) S852T probably benign Het
Rcn1 C T 2: 105,389,119 (GRCm38) R243Q probably null Het
Rom1 A G 19: 8,929,101 (GRCm38) S25P probably damaging Het
Shank3 C A 15: 89,503,572 (GRCm38) Y286* probably null Het
Sis T A 3: 72,929,409 (GRCm38) I837L probably benign Het
Ski T C 4: 155,160,626 (GRCm38) S388G possibly damaging Het
Skint1 T C 4: 112,010,724 (GRCm38) F16S probably benign Het
Slc22a21 T G 11: 53,956,078 (GRCm38) D323A possibly damaging Het
Slc40a1 G A 1: 45,912,307 (GRCm38) T230I probably damaging Het
Snrpa1 G A 7: 66,070,633 (GRCm38) G195R probably benign Het
Spata31d1c G T 13: 65,033,177 (GRCm38) S30I probably damaging Het
Spdl1 G A 11: 34,813,425 (GRCm38) T527I possibly damaging Het
Sptb A T 12: 76,612,041 (GRCm38) L1240Q probably benign Het
Tef T A 15: 81,802,836 (GRCm38) V18D possibly damaging Het
Uckl1 T C 2: 181,574,487 (GRCm38) D155G probably damaging Het
Vmn1r215 A G 13: 23,075,867 (GRCm38) I26V probably benign Het
Wac A G 18: 7,871,606 (GRCm38) M46V probably benign Het
Wbp1 C T 6: 83,119,885 (GRCm38) G146D probably damaging Het
Zfand2a A C 5: 139,473,791 (GRCm38) S147A probably benign Het
Zfhx4 A T 3: 5,399,474 (GRCm38) Y1589F probably benign Het
Zfp345 G C 2: 150,472,428 (GRCm38) D396E 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
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
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'- CCATTGTGTGGCTCCAATTAG -3'
(R):5'- ACTTGTGGCCCTGGAAAATACTG -3'

Sequencing Primer
(F):5'- GGCTCCAATTAGTTTAGGATGAAGTC -3'
(R):5'- GGCCCTGGAAAATACTGTAAAAATC -3'
Posted On 2020-10-20