Incidental Mutation 'R7120:Gm4787'
ID 551953
Institutional Source Beutler Lab
Gene Symbol Gm4787
Ensembl Gene ENSMUSG00000072974
Gene Name predicted gene 4787
Synonyms
MMRRC Submission 045209-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7120 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 81423765-81426238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81425260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 299 (M299I)
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: M299I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: M299I

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik A T 3: 36,536,016 (GRCm39) Q94L unknown Het
4933411K16Rik C T 19: 42,041,112 (GRCm39) A81V probably benign Het
Actr3 A C 1: 125,331,169 (GRCm39) Y273* probably null Het
Aoc1 T A 6: 48,883,531 (GRCm39) I469N probably damaging Het
Arhgef28 A T 13: 98,081,047 (GRCm39) L1270Q probably damaging Het
Atp2c1 G A 9: 105,297,385 (GRCm39) Q780* probably null Het
Bbs10 T C 10: 111,135,310 (GRCm39) V141A possibly damaging Het
Bivm A T 1: 44,165,606 (GRCm39) T19S probably benign Het
Cacna1h T G 17: 25,610,481 (GRCm39) H675P probably benign Het
Cadps T A 14: 12,439,919 (GRCm38) L1204F probably damaging Het
Cald1 T C 6: 34,663,011 (GRCm39) probably null Het
Calr A G 8: 85,569,457 (GRCm39) M357T probably damaging Het
Ccni A T 5: 93,331,190 (GRCm39) Y260* probably null Het
Csrnp3 C A 2: 65,853,354 (GRCm39) T594K probably damaging Het
Dek A T 13: 47,253,659 (GRCm39) M152K unknown Het
Depdc1b T C 13: 108,498,781 (GRCm39) W155R probably benign Het
Ehd1 A G 19: 6,347,591 (GRCm39) K315R probably benign Het
Epn3 C A 11: 94,383,254 (GRCm39) R323S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbxo10 T A 4: 45,040,533 (GRCm39) K891* probably null Het
Fras1 G T 5: 96,900,819 (GRCm39) G3013* probably null Het
Gbp2b A G 3: 142,312,507 (GRCm39) T297A probably benign Het
Gbp7 T C 3: 142,249,734 (GRCm39) S402P probably damaging Het
Gclc T C 9: 77,694,032 (GRCm39) Y329H probably damaging Het
Gfpt1 A G 6: 87,064,375 (GRCm39) H655R probably benign Het
Grb7 C A 11: 98,345,817 (GRCm39) R532S probably benign Het
Hmcn1 A T 1: 150,576,292 (GRCm39) I2066N probably damaging Het
Hnrnpll T C 17: 80,341,486 (GRCm39) T518A probably benign Het
Hps3 G A 3: 20,065,705 (GRCm39) R712W probably damaging Het
Hspd1 A G 1: 55,118,388 (GRCm39) V406A probably benign Het
Igkv2-112 T C 6: 68,197,510 (GRCm39) F61L probably benign Het
Iqcf5 G A 9: 106,392,995 (GRCm39) R84H probably damaging Het
Itgad T A 7: 127,773,146 (GRCm39) M1K probably null Het
Kmt2d A G 15: 98,758,946 (GRCm39) S1292P unknown Het
Macc1 C A 12: 119,409,480 (GRCm39) Q83K possibly damaging Het
Map3k4 G T 17: 12,490,354 (GRCm39) A359E probably damaging Het
Mfap3 T A 11: 57,419,043 (GRCm39) C68S probably damaging Het
Mipep C T 14: 61,112,696 (GRCm39) R660C possibly damaging Het
Morc2b A T 17: 33,354,787 (GRCm39) L995Q probably damaging Het
Mrc1 A G 2: 14,313,508 (GRCm39) N913S probably damaging Het
N4bp1 C A 8: 87,587,495 (GRCm39) C481F probably benign Het
Nae1 A G 8: 105,252,910 (GRCm39) probably null Het
Nup214 T A 2: 31,941,054 (GRCm39) V29E probably benign Het
Or1e30 A T 11: 73,677,940 (GRCm39) M59L probably damaging Het
Or8c11 T C 9: 38,289,945 (GRCm39) L250P probably damaging Het
Orai1 A G 5: 123,167,535 (GRCm39) E236G possibly damaging Het
P2rx7 A G 5: 122,819,357 (GRCm39) Y593C probably benign Het
Pcbp2 A G 15: 102,383,113 (GRCm39) D77G possibly damaging Het
Pcdha8 G A 18: 37,126,840 (GRCm39) V441M possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Plaa A G 4: 94,470,919 (GRCm39) S406P possibly damaging Het
Plekhh1 C A 12: 79,117,713 (GRCm39) P903Q probably benign Het
Plekhh3 T C 11: 101,059,064 (GRCm39) E92G probably damaging Het
Ptpn9 T C 9: 56,967,166 (GRCm39) F463S probably damaging Het
Ptprn2 A C 12: 116,835,676 (GRCm39) E337A probably benign Het
Rubcn C T 16: 32,656,839 (GRCm39) R527Q probably damaging Het
Samd3 C T 10: 26,106,864 (GRCm39) T73M possibly damaging Het
Sfxn4 T A 19: 60,840,477 (GRCm39) K173* probably null Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Son T G 16: 91,467,414 (GRCm39) N2258K unknown Het
Sspo A T 6: 48,442,505 (GRCm39) H2000L probably benign Het
Syne1 C T 10: 5,243,971 (GRCm39) S2731N probably benign Het
Syt6 T C 3: 103,494,673 (GRCm39) Y213H probably damaging Het
Tkt A G 14: 30,281,779 (GRCm39) N99S probably benign Het
Tlcd3b T C 7: 126,428,505 (GRCm39) L221P probably damaging Het
Tmem258 G A 19: 10,181,602 (GRCm39) probably benign Het
Tnks1bp1 T C 2: 84,902,441 (GRCm39) S1702P probably damaging Het
Tpte A G 8: 22,817,689 (GRCm39) D225G probably damaging Het
Trak1 T A 9: 121,289,564 (GRCm39) F625L probably benign Het
Ttc33 G T 15: 5,241,488 (GRCm39) C77F probably benign Het
Ugt1a2 A G 1: 88,128,522 (GRCm39) H55R probably damaging Het
Vmn1r169 G T 7: 23,277,444 (GRCm39) V279L probably benign Het
Vmn2r25 T C 6: 123,805,394 (GRCm39) K488E possibly damaging Het
Vmn2r8 A T 5: 108,956,504 (GRCm39) D39E possibly damaging Het
Other mutations in Gm4787
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01719:Gm4787 APN 12 81,423,948 (GRCm39) missense possibly damaging 0.50
IGL01916:Gm4787 APN 12 81,424,218 (GRCm39) missense probably benign 0.36
IGL02193:Gm4787 APN 12 81,425,302 (GRCm39) missense probably benign 0.02
IGL02623:Gm4787 APN 12 81,425,502 (GRCm39) missense probably damaging 1.00
IGL02681:Gm4787 APN 12 81,425,543 (GRCm39) missense possibly damaging 0.88
IGL03257:Gm4787 APN 12 81,424,826 (GRCm39) missense probably damaging 1.00
IGL03410:Gm4787 APN 12 81,425,948 (GRCm39) missense probably damaging 1.00
F5770:Gm4787 UTSW 12 81,424,341 (GRCm39) nonsense probably null
PIT4362001:Gm4787 UTSW 12 81,423,949 (GRCm39) missense probably benign
R0070:Gm4787 UTSW 12 81,425,840 (GRCm39) missense probably damaging 1.00
R0128:Gm4787 UTSW 12 81,424,521 (GRCm39) nonsense probably null
R0220:Gm4787 UTSW 12 81,425,422 (GRCm39) missense probably damaging 0.98
R0304:Gm4787 UTSW 12 81,425,708 (GRCm39) missense probably damaging 1.00
R0513:Gm4787 UTSW 12 81,425,086 (GRCm39) missense probably benign 0.03
R1761:Gm4787 UTSW 12 81,423,950 (GRCm39) missense probably benign 0.02
R1809:Gm4787 UTSW 12 81,425,303 (GRCm39) missense possibly damaging 0.91
R1853:Gm4787 UTSW 12 81,425,108 (GRCm39) missense probably damaging 1.00
R1854:Gm4787 UTSW 12 81,425,108 (GRCm39) missense probably damaging 1.00
R2030:Gm4787 UTSW 12 81,425,544 (GRCm39) missense probably damaging 1.00
R2063:Gm4787 UTSW 12 81,425,694 (GRCm39) missense probably benign 0.39
R2112:Gm4787 UTSW 12 81,424,607 (GRCm39) missense probably damaging 1.00
R2140:Gm4787 UTSW 12 81,425,336 (GRCm39) missense probably benign 0.03
R2151:Gm4787 UTSW 12 81,423,993 (GRCm39) missense probably benign 0.00
R2152:Gm4787 UTSW 12 81,423,993 (GRCm39) missense probably benign 0.00
R2342:Gm4787 UTSW 12 81,425,532 (GRCm39) missense possibly damaging 0.91
R2504:Gm4787 UTSW 12 81,425,911 (GRCm39) missense possibly damaging 0.93
R4038:Gm4787 UTSW 12 81,425,132 (GRCm39) missense probably damaging 1.00
R4604:Gm4787 UTSW 12 81,425,987 (GRCm39) missense probably benign 0.17
R4748:Gm4787 UTSW 12 81,424,830 (GRCm39) missense probably damaging 1.00
R4750:Gm4787 UTSW 12 81,425,141 (GRCm39) missense possibly damaging 0.95
R4928:Gm4787 UTSW 12 81,425,612 (GRCm39) missense probably benign 0.03
R4960:Gm4787 UTSW 12 81,426,090 (GRCm39) missense probably damaging 0.99
R4974:Gm4787 UTSW 12 81,424,403 (GRCm39) missense probably damaging 0.99
R5028:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5029:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5031:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5098:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5099:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5100:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5101:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5135:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5152:Gm4787 UTSW 12 81,425,451 (GRCm39) missense probably benign 0.02
R5180:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5220:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5257:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5258:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5297:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5324:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5325:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5355:Gm4787 UTSW 12 81,424,239 (GRCm39) nonsense probably null
R5364:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5396:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5397:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5398:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5514:Gm4787 UTSW 12 81,425,102 (GRCm39) missense possibly damaging 0.90
R5634:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5666:Gm4787 UTSW 12 81,424,805 (GRCm39) missense probably benign 0.23
R5670:Gm4787 UTSW 12 81,424,805 (GRCm39) missense probably benign 0.23
R5787:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R5788:Gm4787 UTSW 12 81,424,604 (GRCm39) missense probably benign 0.01
R6354:Gm4787 UTSW 12 81,424,755 (GRCm39) missense probably damaging 1.00
R6932:Gm4787 UTSW 12 81,425,974 (GRCm39) missense probably benign 0.04
R7237:Gm4787 UTSW 12 81,424,442 (GRCm39) missense probably damaging 0.99
R7937:Gm4787 UTSW 12 81,424,679 (GRCm39) missense probably benign 0.01
R8022:Gm4787 UTSW 12 81,424,494 (GRCm39) missense possibly damaging 0.94
R8140:Gm4787 UTSW 12 81,424,925 (GRCm39) missense probably benign 0.00
R8314:Gm4787 UTSW 12 81,425,909 (GRCm39) missense probably damaging 1.00
R8480:Gm4787 UTSW 12 81,424,280 (GRCm39) missense probably damaging 1.00
R8498:Gm4787 UTSW 12 81,425,840 (GRCm39) missense probably damaging 1.00
R8515:Gm4787 UTSW 12 81,424,043 (GRCm39) missense probably benign 0.00
R9103:Gm4787 UTSW 12 81,425,489 (GRCm39) missense probably benign 0.06
R9457:Gm4787 UTSW 12 81,426,020 (GRCm39) missense probably damaging 1.00
R9557:Gm4787 UTSW 12 81,426,074 (GRCm39) nonsense probably null
R9608:Gm4787 UTSW 12 81,425,086 (GRCm39) missense probably benign 0.03
V7580:Gm4787 UTSW 12 81,424,341 (GRCm39) nonsense probably null
V7581:Gm4787 UTSW 12 81,424,341 (GRCm39) nonsense probably null
V7582:Gm4787 UTSW 12 81,424,341 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTATCATGCCTCACATTCAGAAG -3'
(R):5'- TGGGAGCAATTCAACTGCCTC -3'

Sequencing Primer
(F):5'- TTCAGAAGGTGACCCACTGCATG -3'
(R):5'- GGAGCAATTCAACTGCCTCAATTG -3'
Posted On 2019-05-15