Incidental Mutation 'R6710:1700113H08Rik'
ID 529100
Institutional Source Beutler Lab
Gene Symbol 1700113H08Rik
Ensembl Gene ENSMUSG00000047129
Gene Name RIKEN cDNA 1700113H08 gene
Synonyms
MMRRC Submission 044828-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6710 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 86893909-87066451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87061923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 124 (E124D)
Ref Sequence ENSEMBL: ENSMUSP00000130852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169849] [ENSMUST00000189456] [ENSMUST00000189775]
AlphaFold E9Q9Q5
Predicted Effect probably benign
Transcript: ENSMUST00000169849
AA Change: E124D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000130852
Gene: ENSMUSG00000047129
AA Change: E124D

DomainStartEndE-ValueType
Pfam:DUF4607 71 325 2.1e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189456
SMART Domains Protein: ENSMUSP00000140447
Gene: ENSMUSG00000047129

DomainStartEndE-ValueType
Pfam:DUF4607 45 206 6.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189775
SMART Domains Protein: ENSMUSP00000141184
Gene: ENSMUSG00000047129

DomainStartEndE-ValueType
Pfam:DUF4607 6 160 6.8e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219879
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aph1c T C 9: 66,741,802 (GRCm39) T27A probably benign Het
Ash2l T C 8: 26,309,740 (GRCm39) I507V possibly damaging Het
Cela2a C A 4: 141,549,554 (GRCm39) A74S probably damaging Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Drc1 A G 5: 30,520,429 (GRCm39) D590G possibly damaging Het
Epn1 A G 7: 5,100,303 (GRCm39) E472G probably damaging Het
Erfe A G 1: 91,300,128 (GRCm39) D318G probably damaging Het
Ifnar2 T C 16: 91,190,771 (GRCm39) C227R probably damaging Het
Marchf11 A G 15: 26,387,949 (GRCm39) Y268C probably damaging Het
Muc16 A T 9: 18,553,366 (GRCm39) I4309N possibly damaging Het
Nit2 A G 16: 56,980,493 (GRCm39) V95A possibly damaging Het
Nup205 T G 6: 35,224,308 (GRCm39) I2049S probably benign Het
Or2h1 T G 17: 37,404,638 (GRCm39) I43L probably damaging Het
Or7e175 C T 9: 20,049,378 (GRCm39) A322V probably benign Het
Pcdhb17 T C 18: 37,618,452 (GRCm39) S81P probably damaging Het
Plcg2 A G 8: 118,284,086 (GRCm39) I128V probably benign Het
Sem1 C A 6: 6,578,497 (GRCm39) E20* probably null Het
Tap1 C T 17: 34,407,083 (GRCm39) A77V possibly damaging Het
Tmem26 T C 10: 68,559,884 (GRCm39) L52P probably damaging Het
Utp3 T C 5: 88,703,823 (GRCm39) Y451H probably damaging Het
Vmn2r103 T A 17: 20,032,239 (GRCm39) I671N probably damaging Het
Zbtb39 T A 10: 127,579,505 (GRCm39) I693N probably damaging Het
Zfp174 A G 16: 3,665,921 (GRCm39) E62G probably damaging 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
IGL03202:1700113H08Rik APN 10 86,909,911 (GRCm39) start codon destroyed probably null 0.35
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
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
Predicted Primers PCR Primer
(F):5'- AAATCTCTAAGTAGCTGGATCCATC -3'
(R):5'- CTCCCTTGGAGTTGACTAAGG -3'

Sequencing Primer
(F):5'- CAGGATCTATAGGAACTCATAGTCC -3'
(R):5'- ACTAAGGGATGGTTCTGAAGTG -3'
Posted On 2018-07-24