Incidental Mutation 'R2520:1700109H08Rik'
ID 254328
Institutional Source Beutler Lab
Gene Symbol 1700109H08Rik
Ensembl Gene ENSMUSG00000008307
Gene Name RIKEN cDNA 1700109H08 gene
Synonyms
MMRRC Submission 040424-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R2520 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 3621716-3634341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3625773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 70 (N70I)
Ref Sequence ENSEMBL: ENSMUSP00000118797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008451] [ENSMUST00000125740] [ENSMUST00000147801]
AlphaFold Q9D9C0
Predicted Effect possibly damaging
Transcript: ENSMUST00000008451
AA Change: N70I

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000008451
Gene: ENSMUSG00000008307
AA Change: N70I

DomainStartEndE-ValueType
EFh 68 96 1.56e-3 SMART
EFh 104 132 6.45e1 SMART
EFh 149 177 1.45e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125740
AA Change: N29I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117825
Gene: ENSMUSG00000008307
AA Change: N29I

DomainStartEndE-ValueType
Pfam:EF-hand_1 27 55 1e-8 PFAM
Pfam:EF-hand_6 27 62 8.3e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147801
AA Change: N70I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118797
Gene: ENSMUSG00000008307
AA Change: N70I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik G A 3: 146,356,261 (GRCm39) R216W probably damaging Het
Abcb9 C T 5: 124,218,091 (GRCm39) probably null Het
Arhgdia A T 11: 120,470,852 (GRCm39) V72E probably damaging Het
Arsb A T 13: 94,077,207 (GRCm39) K525* probably null Het
Bckdha A C 7: 25,341,124 (GRCm39) I79S probably benign Het
Carm1 G A 9: 21,494,893 (GRCm39) probably null Het
Cers5 G A 15: 99,634,262 (GRCm39) T362I probably damaging Het
Clec4b2 T A 6: 123,177,942 (GRCm39) F86I probably damaging Het
Crispld1 G A 1: 17,821,000 (GRCm39) D347N probably damaging Het
Csf3r A T 4: 125,929,145 (GRCm39) T352S probably benign Het
Daam2 G A 17: 49,787,785 (GRCm39) Q443* probably null Het
Dcbld1 A G 10: 52,195,641 (GRCm39) D283G probably damaging Het
Dpp9 T C 17: 56,513,868 (GRCm39) E82G probably damaging Het
Dync1li1 A G 9: 114,518,074 (GRCm39) D42G probably null Het
Eml6 T C 11: 29,741,993 (GRCm39) H1130R probably damaging Het
Enox1 A T 14: 77,819,839 (GRCm39) Y198F probably damaging Het
Epop A G 11: 97,519,554 (GRCm39) L185P probably benign Het
Frem1 A T 4: 82,868,527 (GRCm39) C1485S probably damaging Het
Gbf1 T A 19: 46,253,806 (GRCm39) S571T probably benign Het
Gm5965 A T 16: 88,575,414 (GRCm39) I196F probably null Het
Gm8237 T A 14: 5,863,642 (GRCm38) I8L possibly damaging Het
Gria2 A C 3: 80,614,269 (GRCm39) N590K probably damaging Het
Hectd2 T A 19: 36,589,633 (GRCm39) probably null Het
Hmcn1 T A 1: 150,619,398 (GRCm39) T1239S possibly damaging Het
Hps3 A T 3: 20,083,194 (GRCm39) D167E probably damaging Het
Htr1a A G 13: 105,581,881 (GRCm39) S374G probably benign Het
Il16 C T 7: 83,301,202 (GRCm39) G307S probably benign Het
Ipmk T C 10: 71,217,047 (GRCm39) F198S probably damaging Het
Lyz2 T A 10: 117,114,558 (GRCm39) I124F probably damaging Het
Maea T C 5: 33,515,854 (GRCm39) V47A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgpra1 A T 7: 46,985,020 (GRCm39) C220S possibly damaging Het
Myo5c A T 9: 75,204,931 (GRCm39) K1595* probably null Het
Naga G T 15: 82,214,295 (GRCm39) D405E probably benign Het
Nanog T A 6: 122,690,418 (GRCm39) N249K probably benign Het
Nhlh1 G T 1: 171,881,570 (GRCm39) R99S probably damaging Het
Ntrk2 T A 13: 59,202,090 (GRCm39) probably null Het
Nudt2 A G 4: 41,480,354 (GRCm39) E79G probably benign Het
Or2ad1 A T 13: 21,326,746 (GRCm39) C160* probably null Het
Or4f60 A T 2: 111,902,013 (GRCm39) M305K probably benign Het
Or52n2 T A 7: 104,542,080 (GRCm39) I252F probably benign Het
Pitpnm2 T C 5: 124,267,464 (GRCm39) D592G probably damaging Het
Prps1l3 T C 12: 57,285,369 (GRCm39) V53A probably damaging Het
Psmd2 T G 16: 20,481,826 (GRCm39) V853G probably damaging Het
Pycard A G 7: 127,592,677 (GRCm39) I50T possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf168 T A 16: 32,097,221 (GRCm39) S99T probably benign Het
Rph3al A G 11: 75,797,373 (GRCm39) S108P possibly damaging Het
Sdk1 G A 5: 142,071,526 (GRCm39) A979T probably benign Het
Sec16a G A 2: 26,331,368 (GRCm39) Q216* probably null Het
Slc35f3 T A 8: 127,121,312 (GRCm39) V391E possibly damaging Het
Slf1 T A 13: 77,199,384 (GRCm39) I666F probably damaging Het
Slfn14 A G 11: 83,167,013 (GRCm39) V834A probably damaging Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tbc1d10b A G 7: 126,799,455 (GRCm39) probably null Het
Tmeff1 T A 4: 48,604,679 (GRCm39) C91S probably damaging Het
Tmem108 G T 9: 103,366,481 (GRCm39) N503K possibly damaging Het
Trbv28 A G 6: 41,248,541 (GRCm39) T24A probably damaging Het
Trim34b A G 7: 103,980,446 (GRCm39) E178G probably damaging Het
Trmt1l T A 1: 151,329,696 (GRCm39) H546Q probably benign Het
Ttc39d A G 17: 80,523,799 (GRCm39) I153V probably benign Het
Ttll13 T C 7: 79,899,964 (GRCm39) V101A probably damaging Het
Ubash3b A T 9: 40,926,243 (GRCm39) H501Q probably damaging Het
Upf3a T A 8: 13,846,443 (GRCm39) probably null Het
Usp48 A G 4: 137,352,562 (GRCm39) S94G probably benign Het
Wdr86 T C 5: 24,917,573 (GRCm39) *381W probably null Het
Wdr90 G A 17: 26,074,326 (GRCm39) P680S probably damaging Het
Zbtb22 G A 17: 34,135,956 (GRCm39) V34M probably damaging Het
Zbtb8a A G 4: 129,253,689 (GRCm39) probably null Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp512b A G 2: 181,231,295 (GRCm39) V295A probably damaging Het
Zfp608 A T 18: 55,121,578 (GRCm39) V3E possibly damaging Het
Zfp748 G T 13: 67,694,781 (GRCm39) D32E 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
R3915:1700109H08Rik UTSW 5 3,627,248 (GRCm39) missense possibly damaging 0.69
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'- TAGCTCTGTGGTTAAATCTACCTC -3'
(R):5'- TCCAATGCTATGAGCTACACAG -3'

Sequencing Primer
(F):5'- TCTGTGGTTAAATCTACCTCTTACTC -3'
(R):5'- AGCCGTGAGTGGGTTTTATTAGAAAC -3'
Posted On 2014-12-04