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: 0.057) question?
Stock # R5355 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 81423765-81426238 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 81424239 bp (GRCm39)
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: 8,776,873 (GRCm39) L857P probably damaging Het
Adam12 T C 7: 133,489,671 (GRCm39) *582W probably null Het
Adra1d A G 2: 131,403,007 (GRCm39) V361A probably damaging Het
Ank2 A G 3: 126,737,698 (GRCm39) probably benign Het
Atxn10 T A 15: 85,346,515 (GRCm39) N424K probably damaging Het
C8b A G 4: 104,637,860 (GRCm39) T111A probably benign Het
Ccdc168 A C 1: 44,097,139 (GRCm39) C1320G possibly damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdr2l T C 11: 115,284,396 (GRCm39) V244A possibly damaging Het
Col11a2 A G 17: 34,270,775 (GRCm39) M468V probably benign Het
Col4a2 G A 8: 11,495,984 (GRCm39) R1535H probably damaging Het
Cryab A T 9: 50,664,751 (GRCm39) S59C probably damaging Het
Cuzd1 G A 7: 130,917,853 (GRCm39) T249I probably damaging Het
Disp2 G A 2: 118,617,392 (GRCm39) V129M probably benign Het
Dlg2 G T 7: 91,099,011 (GRCm39) R31L probably benign Het
Dthd1 A C 5: 62,996,730 (GRCm39) L488F probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Fat2 T G 11: 55,172,992 (GRCm39) I2574L probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fryl T C 5: 73,231,247 (GRCm39) D1610G probably damaging Het
Gm10330 T A 12: 23,830,131 (GRCm39) N17Y probably damaging Het
H2bc13 A T 13: 21,900,030 (GRCm39) I95N probably damaging Het
Ift88 T A 14: 57,675,699 (GRCm39) S71T probably benign Het
Isoc2b A G 7: 4,852,357 (GRCm39) probably benign Het
Itgb2 G T 10: 77,393,886 (GRCm39) R442L probably benign Het
Lama5 A T 2: 179,823,444 (GRCm39) N2658K possibly damaging Het
Lemd3 A T 10: 120,769,538 (GRCm39) I598K probably damaging Het
Lrp2 A T 2: 69,285,182 (GRCm39) C3825* probably null Het
Mep1a T C 17: 43,788,037 (GRCm39) D673G probably damaging Het
Met A G 6: 17,491,361 (GRCm39) Y41C probably damaging Het
Mfn2 A G 4: 147,979,035 (GRCm39) V99A probably damaging Het
Mmadhc A G 2: 50,181,436 (GRCm39) I78T probably benign Het
Mmp9 C A 2: 164,792,912 (GRCm39) P389T possibly damaging Het
Mvk T G 5: 114,590,499 (GRCm39) S7A probably damaging Het
Nlrp1a T A 11: 71,015,077 (GRCm39) T58S probably benign Het
Nlrp1c-ps C A 11: 71,148,839 (GRCm39) noncoding transcript Het
Nr1h3 A G 2: 91,022,253 (GRCm39) I125T possibly damaging Het
Or2a55-ps1 C T 6: 43,071,598 (GRCm39) noncoding transcript Het
Or8k39 A T 2: 86,563,680 (GRCm39) I92K probably damaging Het
Parn A G 16: 13,485,886 (GRCm39) I3T possibly damaging Het
Parp8 A G 13: 116,998,740 (GRCm39) probably null Het
Parva T C 7: 112,143,475 (GRCm39) probably null Het
Pwp2 A C 10: 78,011,378 (GRCm39) I672M possibly damaging Het
Sfswap C T 5: 129,616,810 (GRCm39) T418I probably benign Het
Slc6a3 A G 13: 73,709,078 (GRCm39) Y334C probably damaging Het
Slc7a13 C A 4: 19,839,267 (GRCm39) T290K probably benign Het
Spry2 A G 14: 106,130,712 (GRCm39) L158P probably damaging Het
Usp25 A G 16: 76,847,342 (GRCm39) E150G probably damaging Het
Zfp747 A G 7: 126,973,769 (GRCm39) F134L possibly damaging Het
Zp3r A G 1: 130,524,518 (GRCm39) F175S probably benign Het
Zscan22 C A 7: 12,640,435 (GRCm39) N67K probably benign 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
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'- CAGAGGGTTAGTTATAGGGCCAC -3'
(R):5'- TGTCCCATGTCAAAAGGAGG -3'

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