Incidental Mutation 'IGL01569:1700010I14Rik'
ID 91100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700010I14Rik
Ensembl Gene ENSMUSG00000023873
Gene Name RIKEN cDNA 1700010I14 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01569
Quality Score
Status
Chromosome 17
Chromosomal Location 9207152-9227151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9215827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 311 (V311A)
Ref Sequence ENSEMBL: ENSMUSP00000024650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024650] [ENSMUST00000151609]
AlphaFold Q7TPG0
Predicted Effect probably benign
Transcript: ENSMUST00000024650
AA Change: V311A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024650
Gene: ENSMUSG00000023873
AA Change: V311A

DomainStartEndE-ValueType
coiled coil region 135 165 N/A INTRINSIC
Pfam:TSNAXIP1_N 239 349 6.1e-36 PFAM
low complexity region 351 364 N/A INTRINSIC
low complexity region 372 385 N/A INTRINSIC
coiled coil region 421 466 N/A INTRINSIC
low complexity region 501 519 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136954
Predicted Effect probably benign
Transcript: ENSMUST00000151609
AA Change: V311A

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118841
Gene: ENSMUSG00000023873
AA Change: V311A

DomainStartEndE-ValueType
coiled coil region 135 165 N/A INTRINSIC
coiled coil region 321 370 N/A INTRINSIC
low complexity region 372 385 N/A INTRINSIC
coiled coil region 421 466 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdh1 T C 16: 31,273,909 (GRCm39) M194T probably benign Het
Dnmbp T C 19: 43,863,295 (GRCm39) R808G probably benign Het
Esco2 T C 14: 66,063,977 (GRCm39) I402M probably benign Het
Gm5422 T C 10: 31,125,897 (GRCm39) noncoding transcript Het
Il5ra C A 6: 106,708,794 (GRCm39) M1I probably null Het
Kcnk4 T A 19: 6,904,545 (GRCm39) I240F probably damaging Het
Mast4 T C 13: 102,897,523 (GRCm39) E698G probably damaging Het
Mkln1 A G 6: 31,405,063 (GRCm39) probably benign Het
Mypn C T 10: 62,963,538 (GRCm39) G978R probably damaging Het
Or2m12 T C 16: 19,105,410 (GRCm39) T28A probably benign Het
Podn T A 4: 107,881,496 (GRCm39) Y6F probably damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rad54l T C 4: 115,956,195 (GRCm39) D544G probably damaging Het
Reck C A 4: 43,925,172 (GRCm39) S470R probably benign Het
Sik3 A G 9: 46,123,024 (GRCm39) H891R probably benign Het
Tbata C T 10: 61,011,739 (GRCm39) R92* probably null Het
Tdrd1 A G 19: 56,822,841 (GRCm39) N103S probably damaging Het
Timm21 A G 18: 84,969,400 (GRCm39) V8A probably benign Het
Tnn A G 1: 159,948,124 (GRCm39) V863A possibly damaging Het
Togaram1 A G 12: 65,029,436 (GRCm39) D953G possibly damaging Het
Tpm1 T C 9: 66,938,390 (GRCm39) probably null Het
Trgv4 A G 13: 19,369,678 (GRCm39) probably benign Het
Vmn1r8 A T 6: 57,013,272 (GRCm39) N108Y possibly damaging Het
Vmn1r89 T C 7: 12,953,432 (GRCm39) M56T probably benign Het
Ythdc2 A G 18: 45,020,718 (GRCm39) E1434G probably benign Het
Other mutations in 1700010I14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:1700010I14Rik APN 17 9,215,937 (GRCm39) critical splice donor site probably null
IGL03024:1700010I14Rik APN 17 9,212,464 (GRCm39) missense probably benign 0.33
IGL03410:1700010I14Rik APN 17 9,220,728 (GRCm39) missense probably damaging 1.00
R0017:1700010I14Rik UTSW 17 9,226,938 (GRCm39) utr 3 prime probably benign
R0017:1700010I14Rik UTSW 17 9,226,938 (GRCm39) utr 3 prime probably benign
R0324:1700010I14Rik UTSW 17 9,219,989 (GRCm39) missense probably benign 0.33
R0361:1700010I14Rik UTSW 17 9,211,378 (GRCm39) missense probably benign 0.39
R0482:1700010I14Rik UTSW 17 9,207,255 (GRCm39) critical splice donor site probably null
R0529:1700010I14Rik UTSW 17 9,211,228 (GRCm39) missense probably benign 0.32
R1102:1700010I14Rik UTSW 17 9,211,460 (GRCm39) missense probably damaging 1.00
R1964:1700010I14Rik UTSW 17 9,211,324 (GRCm39) missense probably damaging 0.99
R3620:1700010I14Rik UTSW 17 9,226,864 (GRCm39) missense probably benign 0.15
R4259:1700010I14Rik UTSW 17 9,214,066 (GRCm39) missense probably damaging 1.00
R4261:1700010I14Rik UTSW 17 9,214,066 (GRCm39) missense probably damaging 1.00
R4687:1700010I14Rik UTSW 17 9,210,985 (GRCm39) missense probably damaging 1.00
R4707:1700010I14Rik UTSW 17 9,224,544 (GRCm39) missense probably damaging 1.00
R4839:1700010I14Rik UTSW 17 9,226,845 (GRCm39) missense probably benign 0.41
R4979:1700010I14Rik UTSW 17 9,220,643 (GRCm39) missense probably damaging 1.00
R5225:1700010I14Rik UTSW 17 9,226,839 (GRCm39) nonsense probably null
R5383:1700010I14Rik UTSW 17 9,211,532 (GRCm39) missense possibly damaging 0.86
R6031:1700010I14Rik UTSW 17 9,214,084 (GRCm39) missense possibly damaging 0.85
R6031:1700010I14Rik UTSW 17 9,214,084 (GRCm39) missense possibly damaging 0.85
R6505:1700010I14Rik UTSW 17 9,220,772 (GRCm39) missense probably benign 0.08
R6736:1700010I14Rik UTSW 17 9,211,100 (GRCm39) missense probably benign 0.01
R7089:1700010I14Rik UTSW 17 9,226,927 (GRCm39) missense probably benign 0.00
R7097:1700010I14Rik UTSW 17 9,224,052 (GRCm39) missense probably damaging 1.00
R7292:1700010I14Rik UTSW 17 9,215,861 (GRCm39) nonsense probably null
R7405:1700010I14Rik UTSW 17 9,220,649 (GRCm39) missense probably damaging 0.99
R7567:1700010I14Rik UTSW 17 9,226,838 (GRCm39) missense probably damaging 1.00
R7877:1700010I14Rik UTSW 17 9,220,665 (GRCm39) missense probably damaging 1.00
R8794:1700010I14Rik UTSW 17 9,226,939 (GRCm39) missense unknown
R8805:1700010I14Rik UTSW 17 9,226,737 (GRCm39) nonsense probably null
R9007:1700010I14Rik UTSW 17 9,226,935 (GRCm39) missense probably benign 0.01
R9308:1700010I14Rik UTSW 17 9,220,667 (GRCm39) nonsense probably null
R9400:1700010I14Rik UTSW 17 9,211,118 (GRCm39) missense probably benign 0.01
Posted On 2013-12-09