Incidental Mutation 'R5383:1700010I14Rik'
ID 424876
Institutional Source Beutler Lab
Gene Symbol 1700010I14Rik
Ensembl Gene ENSMUSG00000023873
Gene Name RIKEN cDNA 1700010I14 gene
Synonyms
MMRRC Submission 042958-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5383 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 9207152-9227151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9211532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 227 (Y227F)
Ref Sequence ENSEMBL: ENSMUSP00000024650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024650] [ENSMUST00000151609]
AlphaFold Q7TPG0
Predicted Effect possibly damaging
Transcript: ENSMUST00000024650
AA Change: Y227F

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024650
Gene: ENSMUSG00000023873
AA Change: Y227F

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 possibly damaging
Transcript: ENSMUST00000151609
AA Change: Y227F

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118841
Gene: ENSMUSG00000023873
AA Change: Y227F

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T C 3: 59,943,496 (GRCm39) probably benign Het
Abl2 G A 1: 156,469,802 (GRCm39) G918E possibly damaging Het
Acvr1c T C 2: 58,177,747 (GRCm39) T241A probably damaging Het
Adck1 T C 12: 88,422,373 (GRCm39) V328A probably benign Het
Ano6 A G 15: 95,813,918 (GRCm39) I279V probably benign Het
AW551984 T A 9: 39,501,994 (GRCm39) Y704F probably benign Het
C1s1 T C 6: 124,511,360 (GRCm39) D321G probably damaging Het
Cacna1d T A 14: 29,767,236 (GRCm39) D1910V possibly damaging Het
Cdh5 A G 8: 104,864,479 (GRCm39) Q480R probably benign Het
Cdhr1 C T 14: 36,810,964 (GRCm39) V266M possibly damaging Het
Cdk5rap1 A T 2: 154,192,755 (GRCm39) V414D possibly damaging Het
Ctdnep1 T A 11: 69,875,222 (GRCm39) probably benign Het
Cyfip2 T C 11: 46,168,918 (GRCm39) M212V possibly damaging Het
D130043K22Rik G A 13: 25,041,397 (GRCm39) S273N probably benign Het
Ddi2 A G 4: 141,412,163 (GRCm39) S250P probably damaging Het
Dennd1b A G 1: 139,095,409 (GRCm39) T486A probably benign Het
Disc1 A G 8: 125,862,196 (GRCm39) T523A probably damaging Het
Dmbx1 A G 4: 115,775,342 (GRCm39) S313P probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnah11 T C 12: 118,049,432 (GRCm39) E1664G probably damaging Het
Dpysl3 A T 18: 43,571,103 (GRCm39) V57E probably damaging Het
Fam98a C T 17: 75,845,576 (GRCm39) G390E unknown Het
Hook3 C A 8: 26,609,017 (GRCm39) R9L probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Impg2 A G 16: 56,063,989 (GRCm39) D298G probably benign Het
Inf2 T A 12: 112,566,579 (GRCm39) V48D probably damaging Het
Itprid1 T A 6: 55,955,275 (GRCm39) L961H probably benign Het
Kcnh1 G A 1: 192,187,999 (GRCm39) G820D probably benign Het
Lsm14a C T 7: 34,088,789 (GRCm39) A39T possibly damaging Het
Muc2 T C 7: 141,307,456 (GRCm39) C804R probably damaging Het
Nim1k C T 13: 120,189,335 (GRCm39) V25M probably benign Het
Or11g25 T A 14: 50,723,509 (GRCm39) L198* probably null Het
Or4a73 T C 2: 89,421,457 (GRCm39) M1V probably null Het
Or5b122 T A 19: 13,563,439 (GRCm39) M257K probably damaging Het
Or6c68 A G 10: 129,158,205 (GRCm39) T238A probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phf8-ps T C 17: 33,284,231 (GRCm39) D857G probably benign Het
Pitrm1 T A 13: 6,627,468 (GRCm39) H856Q probably damaging Het
Pkd1 T C 17: 24,793,349 (GRCm39) C1679R probably benign Het
Pkp4 T A 2: 59,140,617 (GRCm39) L441* probably null Het
Ppp4r4 T C 12: 103,550,427 (GRCm39) F284L probably benign Het
Ptprt T A 2: 161,539,969 (GRCm39) K769M probably damaging Het
Rbm12 G T 2: 155,945,285 (GRCm39) probably benign Het
Rpf1 T C 3: 146,225,146 (GRCm39) D94G possibly damaging Het
Scap G T 9: 110,203,597 (GRCm39) K310N probably damaging Het
Smpd2 C T 10: 41,364,698 (GRCm39) probably benign Het
Sp110 TC TCC 1: 85,519,290 (GRCm39) probably null Het
Specc1l T A 10: 75,082,539 (GRCm39) I662N possibly damaging Het
Sptan1 T A 2: 29,901,340 (GRCm39) V1496D probably damaging Het
Srrm4 T C 5: 116,609,319 (GRCm39) probably benign Het
Taf2 A G 15: 54,912,815 (GRCm39) I515T possibly damaging Het
Tdrd3 C T 14: 87,718,227 (GRCm39) Q203* probably null Het
Tfap2b A T 1: 19,296,722 (GRCm39) M222L probably benign Het
Tmem43 G A 6: 91,450,872 (GRCm39) A2T probably benign Het
Trav9-1 T A 14: 53,725,833 (GRCm39) I49N probably benign Het
Trim23 T G 13: 104,335,205 (GRCm39) N410K probably damaging Het
Ttbk1 T C 17: 46,778,342 (GRCm39) T567A probably damaging Het
Unc79 A G 12: 103,070,886 (GRCm39) N1081S possibly damaging Het
Zfp451 A C 1: 33,852,887 (GRCm39) I9R probably damaging Het
Zfp563 T A 17: 33,323,681 (GRCm39) M92K probably benign Het
Zfp618 G A 4: 63,013,729 (GRCm39) G198D probably benign Het
Zfp637 G T 6: 117,820,270 (GRCm39) probably benign Het
Other mutations in 1700010I14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:1700010I14Rik APN 17 9,215,937 (GRCm39) critical splice donor site probably null
IGL01569:1700010I14Rik APN 17 9,215,827 (GRCm39) missense probably benign 0.33
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
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
Predicted Primers PCR Primer
(F):5'- AGGAAAGACTTGCATTTTCTCG -3'
(R):5'- ATAAGTTGGGGCCCACAAGG -3'

Sequencing Primer
(F):5'- CTGCCTGAGATGAAAGTGCTC -3'
(R):5'- CCACAAGGGTCTTTGAGCTTCAG -3'
Posted On 2016-08-04