Incidental Mutation 'R6496:Gm17175'
ID 523040
Institutional Source Beutler Lab
Gene Symbol Gm17175
Ensembl Gene ENSMUSG00000091142
Gene Name predicted gene 17175
Synonyms
MMRRC Submission 044628-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6496 (G1)
Quality Score 92.0077
Status Not validated
Chromosome 14
Chromosomal Location 51806349-51811520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51810534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 31 (I31T)
Ref Sequence ENSEMBL: ENSMUSP00000127078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096170] [ENSMUST00000162998] [ENSMUST00000172117]
AlphaFold E9Q528
Predicted Effect probably benign
Transcript: ENSMUST00000096170
SMART Domains Protein: ENSMUSP00000093884
Gene: ENSMUSG00000079244

DomainStartEndE-ValueType
Pfam:Takusan 56 144 1.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162998
SMART Domains Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399

DomainStartEndE-ValueType
Pfam:Takusan 35 115 2.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172117
AA Change: I31T

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127078
Gene: ENSMUSG00000091142
AA Change: I31T

DomainStartEndE-ValueType
Pfam:Takusan 23 103 3.3e-26 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,545,217 (GRCm39) T79S probably benign Het
Atp2b1 T A 10: 98,839,199 (GRCm39) C676S probably damaging Het
Atp8b5 T C 4: 43,371,003 (GRCm39) F1047L probably benign Het
B3gnt4 G A 5: 123,649,654 (GRCm39) E340K probably benign Het
Casp8ap2 A C 4: 32,641,553 (GRCm39) H869P probably benign Het
Cdh26 G A 2: 178,091,654 (GRCm39) G71D probably damaging Het
Col4a2 G T 8: 11,452,993 (GRCm39) G187* probably null Het
Col4a2 G T 8: 11,452,994 (GRCm39) G187V probably damaging Het
Dsn1 A G 2: 156,847,187 (GRCm39) S84P probably damaging Het
Edaradd T A 13: 12,493,323 (GRCm39) D123V probably damaging Het
Epb41l1 T C 2: 156,375,716 (GRCm39) S611P possibly damaging Het
Fam217a G A 13: 35,094,785 (GRCm39) R234* probably null Het
Jtb T C 3: 90,141,264 (GRCm39) V80A possibly damaging Het
Kera T A 10: 97,448,672 (GRCm39) N297K probably benign Het
Klhl1 T C 14: 96,477,652 (GRCm39) N472S probably benign Het
Lgmn T C 12: 102,364,498 (GRCm39) T324A probably benign Het
Ndst3 A G 3: 123,346,201 (GRCm39) I276T probably damaging Het
Nsd2 A G 5: 34,000,857 (GRCm39) K125E probably damaging Het
Or10ag59 A C 2: 87,405,460 (GRCm39) N11H probably damaging Het
Or6c33 T A 10: 129,853,448 (GRCm39) S73T probably benign Het
Patj C A 4: 98,304,989 (GRCm39) A281E probably damaging Het
Pcdha7 A G 18: 37,107,638 (GRCm39) E221G possibly damaging Het
Plcd1 A G 9: 118,901,709 (GRCm39) F605S possibly damaging Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Pmfbp1 A G 8: 110,258,789 (GRCm39) K698R probably null Het
Potefam1 T A 2: 110,994,817 (GRCm39) H232L unknown Het
Psd G A 19: 46,308,753 (GRCm39) R628C probably damaging Het
Sipa1l2 T C 8: 126,176,633 (GRCm39) N1211S probably benign Het
Slc1a3 T A 15: 8,679,065 (GRCm39) M177L probably benign Het
Slc34a1 T C 13: 55,550,495 (GRCm39) S183P probably benign Het
Spata22 G A 11: 73,231,189 (GRCm39) G148R probably damaging Het
Spata31f1a G T 4: 42,848,424 (GRCm39) T1244K probably damaging Het
Tfap2a T C 13: 40,882,251 (GRCm39) D18G probably damaging Het
Thoc7 T C 14: 13,954,593 (GRCm38) N28S possibly damaging Het
Usp42 T C 5: 143,700,858 (GRCm39) Y1055C probably damaging Het
Zfp874a A G 13: 67,590,694 (GRCm39) V330A possibly damaging Het
Other mutations in Gm17175
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Gm17175 APN 14 51,810,526 (GRCm39) missense possibly damaging 0.77
IGL01347:Gm17175 APN 14 51,808,307 (GRCm39) missense probably damaging 0.99
IGL01553:Gm17175 APN 14 51,808,279 (GRCm39) missense probably benign 0.00
IGL02436:Gm17175 APN 14 51,807,108 (GRCm39) utr 3 prime probably benign
IGL02485:Gm17175 APN 14 51,807,068 (GRCm39) utr 3 prime probably benign
IGL03171:Gm17175 APN 14 51,809,065 (GRCm39) missense probably damaging 1.00
R4120:Gm17175 UTSW 14 51,810,534 (GRCm39) missense probably damaging 0.97
R4614:Gm17175 UTSW 14 51,809,042 (GRCm39) missense probably benign 0.28
R6817:Gm17175 UTSW 14 51,810,478 (GRCm39) missense possibly damaging 0.91
R7000:Gm17175 UTSW 14 51,811,418 (GRCm39) start codon destroyed probably null
R7814:Gm17175 UTSW 14 51,811,492 (GRCm39) start gained probably benign
R8074:Gm17175 UTSW 14 51,809,080 (GRCm39) missense probably damaging 0.97
R8423:Gm17175 UTSW 14 51,809,070 (GRCm39) missense possibly damaging 0.80
R9608:Gm17175 UTSW 14 51,809,099 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTGGGCTTTAACAGGGATG -3'
(R):5'- GTTGCAAACAGGGACCTAGC -3'

Sequencing Primer
(F):5'- TGGCCCAAAGATAGTCAGC -3'
(R):5'- CCCAGCTTGAAGATAGCTATGATGC -3'
Posted On 2018-06-06