Incidental Mutation 'V7580:Gm4787'
ID 69426
Institutional Source Beutler Lab
Gene Symbol Gm4787
Ensembl Gene ENSMUSG00000072974
Gene Name predicted gene 4787
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # V7580 () of strain stinger
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 81376991-81379464 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 81377567 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 606 (Q606*)
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: Q606*
SMART Domains Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: Q606*

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: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,886,179 (GRCm38) M950L probably benign Het
Atp6v1h A G 1: 5,124,443 (GRCm38) T282A possibly damaging Het
Casp8ap2 C T 4: 32,639,944 (GRCm38) H333Y probably benign Het
Cd36 ACTGTCTGT ACTGT 5: 17,820,528 (GRCm38) probably null Het
Cfi T A 3: 129,854,992 (GRCm38) I175K possibly damaging Het
D630003M21Rik T C 2: 158,201,011 (GRCm38) T870A probably benign Het
Dnah12 T A 14: 26,773,093 (GRCm38) N1369K possibly damaging Het
Dnajc22 T A 15: 99,101,482 (GRCm38) Y183N probably damaging Het
Erv3 T C 2: 131,855,926 (GRCm38) H171R possibly damaging Het
Fam221b T C 4: 43,665,865 (GRCm38) T249A probably benign Het
Gm10770 T A 2: 150,179,484 (GRCm38) K38* probably null Het
Izumo4 A T 10: 80,703,891 (GRCm38) T155S probably benign Het
Kcnb2 A G 1: 15,710,091 (GRCm38) I396V probably benign Het
Klc1 A T 12: 111,774,572 (GRCm38) I161F probably benign Het
Lpar5 C A 6: 125,081,727 (GRCm38) A137E possibly damaging Het
Lrp4 C T 2: 91,488,518 (GRCm38) S900L possibly damaging Het
Lrrc37a T G 11: 103,455,512 (GRCm38) N3176T possibly damaging Het
Med20 G A 17: 47,618,832 (GRCm38) V65M probably damaging Het
Mylk G T 16: 34,995,204 (GRCm38) probably null Het
Numbl T C 7: 27,279,602 (GRCm38) S379P probably benign Het
Or10j7 G T 1: 173,183,964 (GRCm38) L157I probably benign Het
Or5an6 G A 19: 12,394,550 (GRCm38) V96I probably benign Het
Otop3 T A 11: 115,344,838 (GRCm38) L432Q probably damaging Het
Papln C T 12: 83,778,834 (GRCm38) R608C possibly damaging Het
Pelp1 T A 11: 70,398,150 (GRCm38) T257S probably damaging Het
Pigx T C 16: 32,087,422 (GRCm38) D129G probably damaging Het
Pik3cd A C 4: 149,657,319 (GRCm38) L390R probably damaging Het
Plekhb1 T C 7: 100,654,618 (GRCm38) T112A probably benign Het
Ppwd1 A G 13: 104,220,237 (GRCm38) Y257H probably damaging Het
Recql4 T C 15: 76,706,169 (GRCm38) D705G possibly damaging Het
Ror1 A G 4: 100,440,933 (GRCm38) Q501R probably damaging Het
Slc30a4 T A 2: 122,689,538 (GRCm38) M136L probably benign Het
Spaca1 T C 4: 34,039,311 (GRCm38) E192G probably damaging Het
Spata31 C A 13: 64,921,648 (GRCm38) P537T probably benign Het
Sptbn2 C T 19: 4,750,632 (GRCm38) R2292C probably damaging Het
Tnrc6c G A 11: 117,723,326 (GRCm38) R770H probably damaging Het
Trps1 T C 15: 50,831,577 (GRCm38) K150E probably damaging Het
Tspyl3 A G 2: 153,225,060 (GRCm38) V86A probably benign Het
Zfp292 C T 4: 34,806,783 (GRCm38) C2087Y possibly damaging Het
Zmynd8 G A 2: 165,812,394 (GRCm38) R724* probably null 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
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
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'- CTGGTTGTTACACACCCCTCTGAAG -3'
(R):5'- ACCGTCATTTGCAGTGTCAAGCTC -3'

Sequencing Primer
(F):5'- CCCCTCTGAAGTTACATGAACTAATG -3'
(R):5'- AGTGTCAAGCTCTTTTTGGATACC -3'
Posted On 2013-09-04