Incidental Mutation 'R3915:1700109H08Rik'
ID 309587
Institutional Source Beutler Lab
Gene Symbol 1700109H08Rik
Ensembl Gene ENSMUSG00000008307
Gene Name RIKEN cDNA 1700109H08 gene
Synonyms
MMRRC Submission 040913-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R3915 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 3621716-3634341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3627248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 75 (V75I)
Ref Sequence ENSEMBL: ENSMUSP00000118797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008451] [ENSMUST00000125740] [ENSMUST00000147801]
AlphaFold Q9D9C0
Predicted Effect probably benign
Transcript: ENSMUST00000008451
AA Change: V75I

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000008451
Gene: ENSMUSG00000008307
AA Change: V75I

DomainStartEndE-ValueType
EFh 68 96 1.56e-3 SMART
EFh 104 132 6.45e1 SMART
EFh 149 177 1.45e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125740
AA Change: V34I

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117825
Gene: ENSMUSG00000008307
AA Change: V34I

DomainStartEndE-ValueType
Pfam:EF-hand_1 27 55 1e-8 PFAM
Pfam:EF-hand_6 27 62 8.3e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000147801
AA Change: V75I

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118797
Gene: ENSMUSG00000008307
AA Change: V75I

DomainStartEndE-ValueType
Pfam:EF-hand_1 68 96 1.2e-7 PFAM
Pfam:EF-hand_6 68 99 1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198134
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A G 1: 130,670,344 (GRCm39) K189E probably benign Het
Abcf1 C T 17: 36,270,402 (GRCm39) R596H possibly damaging Het
Abtb3 C A 10: 85,468,134 (GRCm39) H810N probably damaging Het
Axl T C 7: 25,460,169 (GRCm39) probably benign Het
Birc6 A G 17: 74,886,603 (GRCm39) K644E probably benign Het
Btnl7-ps T A 17: 34,760,489 (GRCm39) noncoding transcript Het
Car8 A T 4: 8,184,576 (GRCm39) probably benign Het
Ccdc62 C T 5: 124,092,778 (GRCm39) R588C probably damaging Het
Clasp2 T G 9: 113,737,805 (GRCm39) S374A probably damaging Het
Ctnnb1 A G 9: 120,784,717 (GRCm39) H503R probably benign Het
Cwf19l2 A G 9: 3,456,776 (GRCm39) H703R probably damaging Het
Efcab7 A T 4: 99,735,375 (GRCm39) Q133L probably damaging Het
Ehmt2 T C 17: 35,122,443 (GRCm39) S280P probably damaging Het
Eif4a3l1 A T 6: 136,306,420 (GRCm39) T294S probably benign Het
Eomes A G 9: 118,310,341 (GRCm39) M351V probably benign Het
Ets2 G A 16: 95,520,037 (GRCm39) R421H probably damaging Het
Fam222b C G 11: 78,045,756 (GRCm39) P439R probably benign Het
Gbp11 T A 5: 105,478,978 (GRCm39) K153N probably damaging Het
Golim4 T C 3: 75,810,634 (GRCm39) T174A probably damaging Het
Grid1 A G 14: 35,242,684 (GRCm39) Y679C probably damaging Het
Gvin-ps5 A G 7: 105,929,445 (GRCm39) S151P probably benign Het
Ikzf3 T C 11: 98,381,412 (GRCm39) D56G probably damaging Het
Kcnj16 A G 11: 110,916,382 (GRCm39) D348G probably benign Het
Kidins220 T C 12: 25,103,957 (GRCm39) L1319P possibly damaging Het
Lrp1b T A 2: 41,339,248 (GRCm39) D751V probably damaging Het
Macc1 T C 12: 119,410,551 (GRCm39) C440R probably benign Het
Mbd2 T C 18: 70,755,680 (GRCm39) V382A probably benign Het
Or13a17 T A 7: 140,270,888 (GRCm39) D23E probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Or6c68 G A 10: 129,158,178 (GRCm39) A229T probably benign Het
Pgs1 T G 11: 117,910,472 (GRCm39) S528A probably benign Het
Pitpnm3 T C 11: 72,003,110 (GRCm39) T67A probably damaging Het
Pnliprp2 T G 19: 58,748,794 (GRCm39) V33G probably damaging Het
Ptn T C 6: 36,720,282 (GRCm39) N90S probably damaging Het
Ptprt A T 2: 161,397,475 (GRCm39) probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrp1 G A 2: 117,119,122 (GRCm39) S505F probably damaging Het
Sesn1 G A 10: 41,770,886 (GRCm39) R139H probably benign Het
Slc17a7 T A 7: 44,818,144 (GRCm39) L23Q probably damaging Het
Slc30a10 G T 1: 185,187,333 (GRCm39) E25* probably null Het
Smco1 A G 16: 32,092,583 (GRCm39) I85V probably benign Het
Vmn1r76 A T 7: 11,664,496 (GRCm39) S239R probably benign Het
Zc3h7a A T 16: 10,974,074 (GRCm39) V237D possibly damaging Het
Other mutations in 1700109H08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:1700109H08Rik APN 5 3,630,453 (GRCm39) missense probably damaging 1.00
IGL01948:1700109H08Rik APN 5 3,627,326 (GRCm39) missense probably damaging 1.00
IGL02040:1700109H08Rik APN 5 3,630,405 (GRCm39) missense probably damaging 1.00
IGL02558:1700109H08Rik APN 5 3,632,194 (GRCm39) makesense probably null
IGL02719:1700109H08Rik APN 5 3,632,150 (GRCm39) missense probably damaging 1.00
R1831:1700109H08Rik UTSW 5 3,627,255 (GRCm39) missense probably damaging 1.00
R2520:1700109H08Rik UTSW 5 3,625,773 (GRCm39) missense probably damaging 1.00
R4594:1700109H08Rik UTSW 5 3,625,754 (GRCm39) missense probably damaging 1.00
R6197:1700109H08Rik UTSW 5 3,630,442 (GRCm39) nonsense probably null
R8361:1700109H08Rik UTSW 5 3,632,153 (GRCm39) missense possibly damaging 0.84
R8747:1700109H08Rik UTSW 5 3,632,240 (GRCm39) missense probably benign 0.03
R9328:1700109H08Rik UTSW 5 3,632,161 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GCTCACTGTATTGAATGACTCTTCTG -3'
(R):5'- ACACCTGATATTGTCACCAACTG -3'

Sequencing Primer
(F):5'- GACTCTTCTGATGTGAACATATAGGG -3'
(R):5'- ACATGAATCTATGTTCCCAGGC -3'
Posted On 2015-04-17