Incidental Mutation 'IGL03202:1700113H08Rik'
ID 413008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700113H08Rik
Ensembl Gene ENSMUSG00000047129
Gene Name RIKEN cDNA 1700113H08 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL03202
Quality Score
Status
Chromosome 10
Chromosomal Location 86893909-87066451 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 86909911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000140447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169849] [ENSMUST00000189456]
AlphaFold E9Q9Q5
Predicted Effect probably null
Transcript: ENSMUST00000169849
AA Change: M1T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130852
Gene: ENSMUSG00000047129
AA Change: M1T

DomainStartEndE-ValueType
Pfam:DUF4607 71 325 2.1e-113 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000189456
AA Change: M1T

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140447
Gene: ENSMUSG00000047129
AA Change: M1T

DomainStartEndE-ValueType
Pfam:DUF4607 45 206 6.2e-38 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,867,788 (GRCm39) I168N probably damaging Het
Actr10 T G 12: 70,987,605 (GRCm39) C37W probably damaging Het
Atp10b T C 11: 43,125,268 (GRCm39) probably null Het
Bend5 A G 4: 111,290,441 (GRCm39) N146D possibly damaging Het
Cacna1b A G 2: 24,541,124 (GRCm39) F1347L probably damaging Het
Crybg3 T A 16: 59,315,072 (GRCm39) I2910F probably damaging Het
Cspg4 T C 9: 56,805,023 (GRCm39) S1945P possibly damaging Het
Cxcr4 T G 1: 128,516,641 (GRCm39) K340T probably damaging Het
Dnah6 T A 6: 73,121,683 (GRCm39) Y1433F probably damaging Het
Eif2ak4 T C 2: 118,231,101 (GRCm39) V77A probably damaging Het
Fscn3 A T 6: 28,434,451 (GRCm39) H342L probably benign Het
Gm9843 T C 16: 76,200,234 (GRCm39) noncoding transcript Het
Hdac9 T C 12: 34,423,950 (GRCm39) E520G probably damaging Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Itpa T A 2: 130,509,859 (GRCm39) probably benign Het
Lce1l A T 3: 92,757,631 (GRCm39) C76S unknown Het
Lin54 A G 5: 100,623,673 (GRCm39) S55P possibly damaging Het
Lrrc37 T A 11: 103,506,199 (GRCm39) E1923V probably benign Het
Mtfmt C A 9: 65,356,008 (GRCm39) P303Q probably damaging Het
Nae1 A T 8: 105,244,811 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,983,011 (GRCm39) probably benign Het
Or13a19 A G 7: 139,903,019 (GRCm39) M136V possibly damaging Het
Or1e22 G A 11: 73,377,351 (GRCm39) Q100* probably null Het
Pcnx2 A C 8: 126,498,783 (GRCm39) I1572S probably damaging Het
Piezo2 A T 18: 63,144,669 (GRCm39) Y2809N probably damaging Het
Pygl G T 12: 70,246,420 (GRCm39) Q376K probably benign Het
Resf1 G A 6: 149,227,937 (GRCm39) V328I probably benign Het
Rrp12 T C 19: 41,857,205 (GRCm39) probably null Het
Sephs1 A T 2: 4,894,074 (GRCm39) I92F possibly damaging Het
Taar4 T C 10: 23,836,692 (GRCm39) F101L probably damaging Het
Tenm2 A G 11: 35,915,375 (GRCm39) I2053T probably damaging Het
Tgfbr3 T G 5: 107,257,630 (GRCm39) probably benign Het
Vmn2r108 A T 17: 20,691,319 (GRCm39) Y401* probably null Het
Vmn2r87 A G 10: 130,333,091 (GRCm39) M53T probably benign Het
Zfp941 A G 7: 140,392,966 (GRCm39) V131A probably benign Het
Other mutations in 1700113H08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:1700113H08Rik APN 10 87,000,985 (GRCm39) missense probably damaging 1.00
IGL01764:1700113H08Rik APN 10 86,909,910 (GRCm39) start codon destroyed probably benign 0.02
IGL02173:1700113H08Rik APN 10 87,061,754 (GRCm39) missense possibly damaging 0.63
IGL02756:1700113H08Rik APN 10 87,000,970 (GRCm39) missense probably damaging 0.99
IGL03393:1700113H08Rik APN 10 86,909,902 (GRCm39) utr 5 prime probably benign
R0255:1700113H08Rik UTSW 10 87,061,907 (GRCm39) missense probably damaging 1.00
R0409:1700113H08Rik UTSW 10 87,061,816 (GRCm39) missense probably damaging 0.98
R0744:1700113H08Rik UTSW 10 87,000,931 (GRCm39) missense probably damaging 1.00
R0833:1700113H08Rik UTSW 10 87,000,931 (GRCm39) missense probably damaging 1.00
R1163:1700113H08Rik UTSW 10 86,957,284 (GRCm39) missense probably damaging 0.99
R2128:1700113H08Rik UTSW 10 87,066,066 (GRCm39) missense possibly damaging 0.94
R2129:1700113H08Rik UTSW 10 87,066,066 (GRCm39) missense possibly damaging 0.94
R4108:1700113H08Rik UTSW 10 87,061,796 (GRCm39) missense probably damaging 1.00
R5541:1700113H08Rik UTSW 10 87,061,808 (GRCm39) missense probably benign 0.00
R6345:1700113H08Rik UTSW 10 87,061,913 (GRCm39) missense probably benign 0.43
R6372:1700113H08Rik UTSW 10 87,066,088 (GRCm39) missense possibly damaging 0.92
R6710:1700113H08Rik UTSW 10 87,061,923 (GRCm39) missense probably benign 0.00
R6971:1700113H08Rik UTSW 10 87,000,903 (GRCm39) missense possibly damaging 0.91
R7055:1700113H08Rik UTSW 10 87,062,083 (GRCm39) missense probably damaging 0.99
R7713:1700113H08Rik UTSW 10 87,066,173 (GRCm39) missense possibly damaging 0.80
R7808:1700113H08Rik UTSW 10 86,957,297 (GRCm39) missense probably benign 0.33
R7838:1700113H08Rik UTSW 10 87,042,061 (GRCm39) splice site probably null
R8293:1700113H08Rik UTSW 10 87,061,864 (GRCm39) missense possibly damaging 0.92
R9041:1700113H08Rik UTSW 10 87,062,054 (GRCm39) missense probably benign 0.03
R9351:1700113H08Rik UTSW 10 87,066,068 (GRCm39) missense probably benign 0.27
Posted On 2016-08-02