Incidental Mutation 'R4120:Gm17175'
ID 315296
Institutional Source Beutler Lab
Gene Symbol Gm17175
Ensembl Gene ENSMUSG00000091142
Gene Name predicted gene 17175
Synonyms
MMRRC Submission 040993-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4120 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51806349-51811520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51810534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 31 (I31N)
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 damaging
Transcript: ENSMUST00000172117
AA Change: I31N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127078
Gene: ENSMUSG00000091142
AA Change: I31N

DomainStartEndE-ValueType
Pfam:Takusan 23 103 3.3e-26 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (55/59)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C A 1: 25,133,388 (GRCm39) E1233* probably null Het
Afap1l1 T C 18: 61,872,243 (GRCm39) D526G probably damaging Het
Ago4 A G 4: 126,390,600 (GRCm39) Y807H probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Arhgap40 A G 2: 158,374,250 (GRCm39) M222V probably benign Het
Asnsd1 A G 1: 53,387,154 (GRCm39) S158P probably damaging Het
Cdh15 T C 8: 123,590,162 (GRCm39) V365A probably damaging Het
Clca3a2 T C 3: 144,516,613 (GRCm39) M328V probably benign Het
Col4a1 G A 8: 11,256,263 (GRCm39) P1535S unknown Het
Dennd2a G A 6: 39,442,030 (GRCm39) R947C probably damaging Het
Dlg2 G A 7: 91,614,846 (GRCm39) V217I probably damaging Het
Dnaaf2 T C 12: 69,244,812 (GRCm39) D83G possibly damaging Het
Dppa5a A T 9: 78,275,137 (GRCm39) M55K possibly damaging Het
Ect2l A G 10: 18,006,466 (GRCm39) V779A probably benign Het
Ehhadh A G 16: 21,581,934 (GRCm39) S353P probably benign Het
Etv3 A G 3: 87,443,589 (GRCm39) D391G probably benign Het
Fastkd1 T A 2: 69,537,654 (GRCm39) K309N probably damaging Het
Fip1l1 T A 5: 74,748,852 (GRCm39) Y375N probably damaging Het
Flvcr2 T C 12: 85,832,903 (GRCm39) S308P probably benign Het
Fyco1 T C 9: 123,654,691 (GRCm39) Y1065C probably benign Het
Gfra2 A G 14: 71,203,715 (GRCm39) D31G probably damaging Het
Gm6003 T A 7: 32,864,976 (GRCm39) noncoding transcript Het
Gm9951 T C 8: 34,522,993 (GRCm39) noncoding transcript Het
Hspa2 A G 12: 76,452,008 (GRCm39) E234G probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Iqsec1 A T 6: 90,639,584 (GRCm39) Y1065* probably null Het
Ltk T A 2: 119,588,429 (GRCm39) probably benign Het
Map2 G A 1: 66,455,063 (GRCm39) A1318T probably damaging Het
Mas1 A T 17: 13,061,233 (GRCm39) N63K probably damaging Het
Myo15b T C 11: 115,764,318 (GRCm39) S1311P probably benign Het
Nav3 A G 10: 109,739,605 (GRCm39) probably null Het
Nlrp1c-ps T C 11: 71,133,359 (GRCm39) noncoding transcript Het
Oca2 A T 7: 55,904,630 (GRCm39) D32V probably damaging Het
Or51v8 T C 7: 103,320,221 (GRCm39) T6A probably benign Het
Or8b9 T C 9: 37,766,705 (GRCm39) L197S possibly damaging Het
Otub2 T C 12: 103,370,489 (GRCm39) V257A probably damaging Het
Pink1 G A 4: 138,042,822 (GRCm39) R461* probably null Het
Plxna2 T C 1: 194,462,935 (GRCm39) C901R probably damaging Het
Ptchd3 T A 11: 121,721,572 (GRCm39) N148K probably damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Ripor1 T A 8: 106,345,489 (GRCm39) probably benign Het
Sec13 T C 6: 113,711,637 (GRCm39) N107S probably damaging Het
Slc12a2 A G 18: 58,032,427 (GRCm39) M376V possibly damaging Het
Sp140l2 C T 1: 85,237,542 (GRCm39) V81M possibly damaging Het
Sptbn5 T A 2: 119,895,010 (GRCm39) D798V possibly damaging Het
Stradb T A 1: 59,019,168 (GRCm39) Y30N possibly damaging Het
Syne1 T A 10: 5,359,798 (GRCm39) Q328L probably damaging Het
Ttc23l A C 15: 10,540,006 (GRCm39) V159G probably damaging Het
Vmn2r100 T C 17: 19,752,215 (GRCm39) S753P probably damaging Het
Vmn2r129 G T 4: 156,686,778 (GRCm39) noncoding transcript Het
Vmn2r39 G A 7: 9,026,673 (GRCm39) H443Y probably benign Het
Zfp936 A G 7: 42,839,630 (GRCm39) T366A probably benign Het
Zkscan3 T C 13: 21,578,119 (GRCm39) E256G 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
R4614:Gm17175 UTSW 14 51,809,042 (GRCm39) missense probably benign 0.28
R6496:Gm17175 UTSW 14 51,810,534 (GRCm39) missense probably benign 0.05
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'- AATCTGGGCTTTAACAGGGATG -3'
(R):5'- TGCAAACAGGGACCTAGCTG -3'

Sequencing Primer
(F):5'- TGGCCCAAAGATAGTCAGC -3'
(R):5'- CCCAGCTTGAAGATAGCTATGATGC -3'
Posted On 2015-05-14