Incidental Mutation 'R4480:Gm3159'
ID 331443
Institutional Source Beutler Lab
Gene Symbol Gm3159
Ensembl Gene ENSMUSG00000095056
Gene Name predicted gene 3159
Synonyms
MMRRC Submission 041737-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R4480 (G1)
Quality Score 196
Status Validated
Chromosome 14
Chromosomal Location 18063745-18072184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4398584 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 92 (Y92H)
Ref Sequence ENSEMBL: ENSMUSP00000137464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164038] [ENSMUST00000167245] [ENSMUST00000177764]
AlphaFold K7N760
Predicted Effect probably damaging
Transcript: ENSMUST00000164038
AA Change: Y92H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126043
Gene: ENSMUSG00000095056
AA Change: Y92H

DomainStartEndE-ValueType
Pfam:Takusan 46 129 1.3e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167245
AA Change: Y92H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133201
Gene: ENSMUSG00000095056
AA Change: Y92H

DomainStartEndE-ValueType
Pfam:Takusan 48 128 5.1e-21 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177764
AA Change: Y92H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137464
Gene: ENSMUSG00000095056
AA Change: Y92H

DomainStartEndE-ValueType
Pfam:Takusan 46 129 5.6e-30 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,654,663 (GRCm39) T553A possibly damaging Het
Adgrb3 A T 1: 25,150,829 (GRCm39) F1135I probably damaging Het
Arfgef3 A T 10: 18,476,348 (GRCm39) F1490L probably damaging Het
Begain A G 12: 109,000,049 (GRCm39) Y446H probably damaging Het
Cdh15 A G 8: 123,591,415 (GRCm39) H517R probably benign Het
Cemip2 A G 19: 21,792,853 (GRCm39) Q703R probably benign Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dip2b C T 15: 100,084,182 (GRCm39) T935M probably damaging Het
Eif2s2 T C 2: 154,730,190 (GRCm39) T36A probably benign Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fbxo10 T C 4: 45,048,470 (GRCm39) Y555C probably damaging Het
Fpr2 C T 17: 18,114,015 (GRCm39) T337I probably benign Het
Frem3 A T 8: 81,337,986 (GRCm39) Q93L probably benign Het
Gapdh A G 6: 125,140,145 (GRCm39) V119A possibly damaging Het
Hkdc1 T C 10: 62,227,151 (GRCm39) I769V probably benign Het
Ifne T C 4: 88,797,838 (GRCm39) *193W probably null Het
Katna1 T C 10: 7,614,594 (GRCm39) V32A probably damaging Het
Nup107 T C 10: 117,597,237 (GRCm39) I673V probably benign Het
Nup188 T A 2: 30,212,141 (GRCm39) probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or10g1 G A 14: 52,647,765 (GRCm39) A188V probably damaging Het
Or2t48 G T 11: 58,420,627 (GRCm39) P62T probably damaging Het
Pcdhb5 T A 18: 37,453,805 (GRCm39) S62T probably benign Het
Plekha5 T C 6: 140,472,205 (GRCm39) V44A probably damaging Het
Psg18 C T 7: 18,084,787 (GRCm39) S103N probably benign Het
Ptprcap A G 19: 4,206,223 (GRCm39) E102G probably benign Het
Ptprs A G 17: 56,733,404 (GRCm39) V804A possibly damaging Het
Rab35 C A 5: 115,775,823 (GRCm39) S34* probably null Het
Slco6d1 T A 1: 98,435,299 (GRCm39) Y671* probably null Het
Sostdc1 A G 12: 36,367,165 (GRCm39) I114V probably damaging Het
Tecta A G 9: 42,284,529 (GRCm39) F852S possibly damaging Het
Tmem179 T C 12: 112,469,737 (GRCm39) E21G probably benign Het
Usp17la T A 7: 104,509,897 (GRCm39) H167Q probably benign Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Wdr17 A G 8: 55,117,999 (GRCm39) probably null Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp985 A G 4: 147,668,536 (GRCm39) D468G probably benign Het
Other mutations in Gm3159
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02960:Gm3159 APN 14 4,400,552 (GRCm38) critical splice donor site probably null
R1398:Gm3159 UTSW 14 4,398,586 (GRCm38) nonsense probably null
R4477:Gm3159 UTSW 14 4,398,584 (GRCm38) missense probably damaging 1.00
R4479:Gm3159 UTSW 14 4,398,584 (GRCm38) missense probably damaging 1.00
R5677:Gm3159 UTSW 14 4,398,582 (GRCm38) missense probably damaging 0.97
R6957:Gm3159 UTSW 14 4,398,530 (GRCm38) missense possibly damaging 0.94
R7366:Gm3159 UTSW 14 4,398,525 (GRCm38) missense probably benign 0.27
R7514:Gm3159 UTSW 14 4,399,690 (GRCm38) missense probably damaging 1.00
R7796:Gm3159 UTSW 14 4,400,560 (GRCm38) makesense probably null
R7799:Gm3159 UTSW 14 4,397,585 (GRCm38) unclassified probably benign
R8486:Gm3159 UTSW 14 4,400,520 (GRCm38) missense probably damaging 1.00
R8493:Gm3159 UTSW 14 4,398,567 (GRCm38) missense probably damaging 1.00
R9345:Gm3159 UTSW 14 4,398,488 (GRCm38) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- GGCCATCAAGTATGCAAACTC -3'
(R):5'- ATCAGATTGCAAGCATCCCAGG -3'

Sequencing Primer
(F):5'- GGCCATCAAGTATGCAAACTCATTTG -3'
(R):5'- TGCAAGCATCCCAGGGTCAAG -3'
Posted On 2015-07-21