Incidental Mutation 'R4750:Gm4787'
ID 357522
Institutional Source Beutler Lab
Gene Symbol Gm4787
Ensembl Gene ENSMUSG00000072974
Gene Name predicted gene 4787
Synonyms
MMRRC Submission 042031-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4750 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 81423765-81426238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81425141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 339 (N339S)
Ref Sequence ENSEMBL: ENSMUSP00000077390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062182] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]
AlphaFold B2RUD9
Predicted Effect possibly damaging
Transcript: ENSMUST00000062182
AA Change: N339S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: N339S

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 97% (89/92)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,025,945 (GRCm39) L155Q probably damaging Het
Aadac T C 3: 59,943,238 (GRCm39) F48L probably benign Het
Aadat T A 8: 60,979,634 (GRCm39) N165K probably benign Het
Acan C A 7: 78,742,466 (GRCm39) D557E probably damaging Het
Adamts4 T A 1: 171,078,635 (GRCm39) V85D probably benign Het
Agt A G 8: 125,283,676 (GRCm39) V481A probably benign Het
Angpt1 T C 15: 42,539,797 (GRCm39) N21D probably benign Het
Ankrd52 A C 10: 128,213,958 (GRCm39) D38A probably damaging Het
Ap1g2 G T 14: 55,341,822 (GRCm39) Q247K probably damaging Het
Apaf1 T C 10: 90,896,050 (GRCm39) R341G probably damaging Het
Arf2 T C 11: 103,870,585 (GRCm39) probably null Het
Arhgef1 A G 7: 24,618,001 (GRCm39) probably benign Het
Bbln C T 2: 32,269,425 (GRCm39) probably null Het
Bbox1 T A 2: 110,095,866 (GRCm39) Y366F possibly damaging Het
Bmp3 A G 5: 99,020,417 (GRCm39) E280G possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh12 T A 15: 21,583,894 (GRCm39) V578D possibly damaging Het
Cdk19 T C 10: 40,352,195 (GRCm39) S282P probably damaging Het
Cfap46 A G 7: 139,259,239 (GRCm39) probably null Het
Cfhr3 T A 1: 139,512,566 (GRCm39) noncoding transcript Het
Ctrc T A 4: 141,568,834 (GRCm39) Y123F probably benign Het
Dync2i2 T C 2: 29,923,932 (GRCm39) T198A probably benign Het
Enpp4 A G 17: 44,413,246 (GRCm39) M96T probably damaging Het
Exosc10 T A 4: 148,646,851 (GRCm39) S154T possibly damaging Het
Fbxo21 G A 5: 118,138,533 (GRCm39) R486H probably benign Het
Foxj3 C A 4: 119,473,787 (GRCm39) A204E probably damaging Het
Gas6 T G 8: 13,526,227 (GRCm39) D237A probably benign Het
Gimap8 A G 6: 48,627,361 (GRCm39) S112G probably benign Het
Gm6185 T C 1: 161,009,933 (GRCm39) noncoding transcript Het
Gramd2b A G 18: 56,565,372 (GRCm39) E9G probably benign Het
Hmgxb3 A T 18: 61,300,568 (GRCm39) D169E probably benign Het
Isl2 T A 9: 55,451,596 (GRCm39) V162D probably benign Het
Kcns3 T A 12: 11,141,655 (GRCm39) D348V probably damaging Het
Kcp G A 6: 29,484,625 (GRCm39) P1318S probably benign Het
Kif12 T A 4: 63,086,020 (GRCm39) Q415L probably damaging Het
Lama3 T A 18: 12,637,416 (GRCm39) H45Q probably benign Het
Lonp2 A T 8: 87,358,130 (GRCm39) K117M probably benign Het
Loxl4 T A 19: 42,593,443 (GRCm39) N243Y probably damaging Het
Lrif1 C A 3: 106,642,880 (GRCm39) Q662K probably benign Het
Lrrc37a T A 11: 103,346,306 (GRCm39) I3187L probably benign Het
Lsg1 A G 16: 30,384,267 (GRCm39) I521T probably damaging Het
Mecom T G 3: 30,011,679 (GRCm39) K865Q probably damaging Het
Myh10 T C 11: 68,676,140 (GRCm39) I790T probably damaging Het
Nek7 C T 1: 138,426,411 (GRCm39) S234N probably damaging Het
Nepro T C 16: 44,550,545 (GRCm39) L179P probably damaging Het
Nexn A G 3: 151,943,359 (GRCm39) C649R probably damaging Het
Nsmf T C 2: 24,945,038 (GRCm39) S34P probably damaging Het
Or10x1 A G 1: 174,196,488 (GRCm39) I2V probably benign Het
Or13n4 A G 7: 106,423,514 (GRCm39) F73S probably damaging Het
Or13p5 T A 4: 118,591,930 (GRCm39) V68D possibly damaging Het
Or1n2 T A 2: 36,797,728 (GRCm39) S257T probably benign Het
Or1p1c T A 11: 74,160,246 (GRCm39) F10L probably benign Het
Or2w2 A G 13: 21,757,913 (GRCm39) S238P possibly damaging Het
Or52l1 A T 7: 104,830,133 (GRCm39) I144N probably damaging Het
Or5bw2 A G 7: 6,573,850 (GRCm39) I287V probably benign Het
Or5w16 C T 2: 87,576,852 (GRCm39) T104I probably benign Het
P2rx5 G T 11: 73,055,703 (GRCm39) K53N probably damaging Het
Pcdhb20 C A 18: 37,639,184 (GRCm39) A570E possibly damaging Het
Pip4k2c T C 10: 127,047,286 (GRCm39) H32R unknown Het
Pkhd1 T A 1: 20,594,336 (GRCm39) D1259V possibly damaging Het
Plekha7 A T 7: 115,736,546 (GRCm39) V889E probably damaging Het
Polr2b A C 5: 77,479,886 (GRCm39) E546D possibly damaging Het
Ppm1l A G 3: 69,456,661 (GRCm39) T193A probably damaging Het
Ppp1r37 G T 7: 19,265,445 (GRCm39) D710E probably benign Het
Prdm4 A G 10: 85,735,085 (GRCm39) F679L probably damaging Het
Prkcd A G 14: 30,332,258 (GRCm39) M1T probably null Het
Prss59 A G 6: 40,897,955 (GRCm39) W243R probably damaging Het
Rcor3 A G 1: 191,814,749 (GRCm39) Y77H unknown Het
Rdh5 T C 10: 128,754,235 (GRCm39) E66G possibly damaging Het
Slc12a5 A G 2: 164,824,851 (GRCm39) M396V probably benign Het
Slco5a1 T G 1: 12,949,504 (GRCm39) T629P probably damaging Het
Smarca5 A C 8: 81,460,336 (GRCm39) N133K probably benign Het
Spag5 T C 11: 78,210,878 (GRCm39) M927T probably benign Het
Spint4 A T 2: 164,542,066 (GRCm39) D39V probably damaging Het
Syt6 T A 3: 103,538,233 (GRCm39) *512R probably null Het
Tmem247 T C 17: 87,229,770 (GRCm39) C204R probably damaging Het
Tmem72 A G 6: 116,672,395 (GRCm39) Y149H probably damaging Het
Trpm6 T C 19: 18,853,428 (GRCm39) V1816A probably damaging Het
Usp35 A G 7: 96,959,546 (GRCm39) V1008A possibly damaging Het
Washc4 T C 10: 83,426,916 (GRCm39) S1075P probably damaging Het
Xylb G T 9: 119,188,379 (GRCm39) G62* probably null Het
Zfp142 T C 1: 74,611,617 (GRCm39) E623G probably damaging Het
Zfp239 A G 6: 117,848,700 (GRCm39) Y146C probably 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
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
R7120:Gm4787 UTSW 12 81,425,260 (GRCm39) missense probably benign 0.00
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'- ATGCAAGGATCCCAACCATG -3'
(R):5'- TTGGAATGACAAGGACCACTACTC -3'

Sequencing Primer
(F):5'- GGATCCTCATATGTAGCACATCATGG -3'
(R):5'- TGACAAGGACCACTACTCAATTTC -3'
Posted On 2015-11-11