Incidental Mutation 'R5355:Gm4787'
ID 424056
Institutional Source Beutler Lab
Gene Symbol Gm4787
Ensembl Gene ENSMUSG00000072974
Gene Name predicted gene 4787
Synonyms
MMRRC Submission 042934-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5355 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 81376991-81379464 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 81377465 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 640 (R640*)
Ref Sequence ENSEMBL: ENSMUSP00000077390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062182] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]
AlphaFold B2RUD9
Predicted Effect probably null
Transcript: ENSMUST00000062182
AA Change: R640*
SMART Domains Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: R640*

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 noncoding transcript
Transcript: ENSMUST00000087222
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 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 94% (50/53)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,726,873 (GRCm38) L857P probably damaging Het
Adam12 T C 7: 133,887,942 (GRCm38) *582W probably null Het
Adra1d A G 2: 131,561,087 (GRCm38) V361A probably damaging Het
Ank2 A G 3: 126,944,049 (GRCm38) probably benign Het
Atxn10 T A 15: 85,462,314 (GRCm38) N424K probably damaging Het
C8b A G 4: 104,780,663 (GRCm38) T111A probably benign Het
Cdc45 C T 16: 18,795,897 (GRCm38) R205H probably damaging Het
Cdr2l T C 11: 115,393,570 (GRCm38) V244A possibly damaging Het
Col11a2 A G 17: 34,051,801 (GRCm38) M468V probably benign Het
Col4a2 G A 8: 11,445,984 (GRCm38) R1535H probably damaging Het
Cryab A T 9: 50,753,451 (GRCm38) S59C probably damaging Het
Cuzd1 G A 7: 131,316,124 (GRCm38) T249I probably damaging Het
Disp2 G A 2: 118,786,911 (GRCm38) V129M probably benign Het
Dlg2 G T 7: 91,449,803 (GRCm38) R31L probably benign Het
Dthd1 A C 5: 62,839,387 (GRCm38) L488F probably damaging Het
Dupd1 G A 14: 21,677,023 (GRCm38) R186W probably benign Het
Fat2 T G 11: 55,282,166 (GRCm38) I2574L probably damaging Het
Fchsd1 C T 18: 37,959,873 (GRCm38) probably benign Het
Fryl T C 5: 73,073,904 (GRCm38) D1610G probably damaging Het
Gm10330 T A 12: 23,780,130 (GRCm38) N17Y probably damaging Het
Gm8251 A C 1: 44,057,979 (GRCm38) C1320G possibly damaging Het
Hist1h2bl A T 13: 21,715,860 (GRCm38) I95N probably damaging Het
Ift88 T A 14: 57,438,242 (GRCm38) S71T probably benign Het
Isoc2b A G 7: 4,849,358 (GRCm38) probably benign Het
Itgb2 G T 10: 77,558,052 (GRCm38) R442L probably benign Het
Lama5 A T 2: 180,181,651 (GRCm38) N2658K possibly damaging Het
Lemd3 A T 10: 120,933,633 (GRCm38) I598K probably damaging Het
Lrp2 A T 2: 69,454,838 (GRCm38) C3825* probably null Het
Mep1a T C 17: 43,477,146 (GRCm38) D673G probably damaging Het
Met A G 6: 17,491,362 (GRCm38) Y41C probably damaging Het
Mfn2 A G 4: 147,894,578 (GRCm38) V99A probably damaging Het
Mmadhc A G 2: 50,291,424 (GRCm38) I78T probably benign Het
Mmp9 C A 2: 164,950,992 (GRCm38) P389T possibly damaging Het
Mvk T G 5: 114,452,438 (GRCm38) S7A probably damaging Het
Nlrp1a T A 11: 71,124,251 (GRCm38) T58S probably benign Het
Nlrp1c-ps C A 11: 71,258,013 (GRCm38) noncoding transcript Het
Nr1h3 A G 2: 91,191,908 (GRCm38) I125T possibly damaging Het
Olfr1089 A T 2: 86,733,336 (GRCm38) I92K probably damaging Het
Olfr443-ps1 C T 6: 43,094,664 (GRCm38) noncoding transcript Het
Parn A G 16: 13,668,022 (GRCm38) I3T possibly damaging Het
Parp8 A G 13: 116,862,204 (GRCm38) probably null Het
Parva T C 7: 112,544,268 (GRCm38) probably null Het
Pwp2 A C 10: 78,175,544 (GRCm38) I672M possibly damaging Het
Sfswap C T 5: 129,539,746 (GRCm38) T418I probably benign Het
Slc6a3 A G 13: 73,560,959 (GRCm38) Y334C probably damaging Het
Slc7a13 C A 4: 19,839,267 (GRCm38) T290K probably benign Het
Spry2 A G 14: 105,893,278 (GRCm38) L158P probably damaging Het
Usp25 A G 16: 77,050,454 (GRCm38) E150G probably damaging Het
Zfp747 A G 7: 127,374,597 (GRCm38) F134L possibly damaging Het
Zp3r A G 1: 130,596,781 (GRCm38) F175S probably benign Het
Zscan22 C A 7: 12,906,508 (GRCm38) N67K 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
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'- CAGAGGGTTAGTTATAGGGCCAC -3'
(R):5'- TGTCCCATGTCAAAAGGAGG -3'

Sequencing Primer
(F):5'- ATAGGGCCACTGTTTACACTAC -3'
(R):5'- CTCCACTGTGATGGTGTCAAGC -3'
Posted On 2016-08-04