Incidental Mutation 'R3625:Gm498'
ID269376
Institutional Source Beutler Lab
Gene Symbol Gm498
Ensembl Gene ENSMUSG00000031085
Gene Namepredicted gene 498
SynonymsLOC244239
MMRRC Submission 040679-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #R3625 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location143866838-143900046 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 143871854 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 80 (V80A)
Ref Sequence ENSEMBL: ENSMUSP00000146764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134455] [ENSMUST00000152910] [ENSMUST00000179036] [ENSMUST00000207235] [ENSMUST00000207482] [ENSMUST00000207630] [ENSMUST00000207642] [ENSMUST00000208038] [ENSMUST00000208153] [ENSMUST00000208457] [ENSMUST00000208625] [ENSMUST00000208761]
Predicted Effect possibly damaging
Transcript: ENSMUST00000134455
AA Change: V80A

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000152910
AA Change: V80A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115809
Gene: ENSMUSG00000031085
AA Change: V80A

DomainStartEndE-ValueType
ACTIN 3 372 1.94e-125 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000179036
AA Change: V82A

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137404
Gene: ENSMUSG00000031085
AA Change: V82A

DomainStartEndE-ValueType
ACTIN 5 330 1.4e-81 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000207235
AA Change: V80A

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207388
Predicted Effect probably benign
Transcript: ENSMUST00000207482
AA Change: V80A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207630
AA Change: V80A

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000207642
Predicted Effect possibly damaging
Transcript: ENSMUST00000208038
AA Change: V80A

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208153
AA Change: V80A

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208457
AA Change: V80A

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000208625
Predicted Effect probably benign
Transcript: ENSMUST00000208761
AA Change: V80A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsi G A 18: 60,916,651 G202E probably benign Het
Atg3 T A 16: 45,175,261 I119N probably benign Het
Cdh12 G C 15: 21,358,756 V89L probably damaging Het
Cdh3 C A 8: 106,543,678 H396N probably damaging Het
Crygs C T 16: 22,805,551 G102D possibly damaging Het
Dab2ip C A 2: 35,643,891 S43* probably null Het
Dmxl2 A G 9: 54,393,643 S2394P probably benign Het
F13a1 T G 13: 36,898,093 N546H probably benign Het
Fbn2 T C 18: 58,061,742 N1449S probably damaging Het
Flywch1 T C 17: 23,760,201 probably benign Het
Gm10436 T C 12: 88,175,961 S296G probably benign Het
Grxcr2 T A 18: 41,998,818 D62V probably damaging Het
Hist1h2bg T C 13: 23,571,451 probably benign Het
Ifnab A T 4: 88,690,779 I150N probably damaging Het
Igsf8 T C 1: 172,317,769 V284A probably benign Het
Kdm1a T C 4: 136,561,108 E388G possibly damaging Het
Map3k8 G A 18: 4,333,965 R376C probably damaging Het
Map6 A T 7: 99,269,195 T189S possibly damaging Het
Mms22l T A 4: 24,505,357 S206T probably damaging Het
N4bp1 A G 8: 86,851,709 L676S probably damaging Het
Nkx6-2 A G 7: 139,582,190 F117S possibly damaging Het
Ociad2 C T 5: 73,323,830 C72Y probably damaging Het
Olfr1490 T A 19: 13,654,982 C184* probably null Het
Olfr672 A T 7: 104,995,984 F307I probably benign Het
Pcdhb6 G T 18: 37,336,140 V21L probably damaging Het
Pogk G A 1: 166,403,512 T82I probably damaging Het
Prkcsh A G 9: 22,011,252 E283G probably null Het
Prkd3 C T 17: 78,985,304 R113H probably damaging Het
Rabgef1 T C 5: 130,212,120 probably null Het
Rec8 T C 14: 55,622,497 I234T possibly damaging Het
Sim1 A T 10: 50,981,336 H394L probably benign Het
Thy1 A G 9: 44,046,731 E52G probably damaging Het
Trav14n-3 A T 14: 53,370,086 I4F probably damaging Het
Trim15 T C 17: 36,866,876 T76A possibly damaging Het
Ttn A G 2: 76,768,801 I19288T probably damaging Het
Vmn1r6 C T 6: 57,002,935 T172I probably damaging Het
Vmn2r52 A T 7: 10,159,178 L678Q probably damaging Het
Vpreb1 T C 16: 16,868,804 H74R probably benign Het
Yeats4 T C 10: 117,220,368 I100V probably benign Het
Zfp36 C A 7: 28,378,256 A76S probably benign Het
Other mutations in Gm498
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02202:Gm498 APN 7 143894173 missense possibly damaging 0.71
R0128:Gm498 UTSW 7 143891755 missense probably damaging 1.00
R0217:Gm498 UTSW 7 143894219 splice site probably benign
R0726:Gm498 UTSW 7 143871761 missense probably damaging 0.99
R1025:Gm498 UTSW 7 143896390 missense probably damaging 0.99
R2879:Gm498 UTSW 7 143894063 nonsense probably null
R2925:Gm498 UTSW 7 143883999 nonsense probably null
R4003:Gm498 UTSW 7 143897303 missense probably benign 0.16
R4184:Gm498 UTSW 7 143894121 nonsense probably null
R4205:Gm498 UTSW 7 143869227 missense probably damaging 0.99
R6179:Gm498 UTSW 7 143871787 missense probably benign 0.12
R7170:Gm498 UTSW 7 143896365 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTAGTTCCAGCCTGCCACT -3'
(R):5'- CAGCAGGTTCCTTCTGTAGGGA -3'

Sequencing Primer
(F):5'- ACTCTCAGGGGCTGTCC -3'
(R):5'- GTAGTCTAAAGAGGTCTATGCTCCC -3'
Posted On2015-02-19