Incidental Mutation 'R4839:1700010I14Rik'
ID 371672
Institutional Source Beutler Lab
Gene Symbol 1700010I14Rik
Ensembl Gene ENSMUSG00000023873
Gene Name RIKEN cDNA 1700010I14 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4839 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 9207152-9227151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9226845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 467 (S467T)
Ref Sequence ENSEMBL: ENSMUSP00000024650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024650] [ENSMUST00000151609]
AlphaFold Q7TPG0
Predicted Effect probably benign
Transcript: ENSMUST00000024650
AA Change: S467T

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000024650
Gene: ENSMUSG00000023873
AA Change: S467T

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 probably benign
Transcript: ENSMUST00000151609
SMART Domains Protein: ENSMUSP00000118841
Gene: ENSMUSG00000023873

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A T 9: 50,652,023 (GRCm39) Y68* probably null Het
Abat T G 16: 8,401,512 (GRCm39) probably benign Het
Abca2 C T 2: 25,330,921 (GRCm39) S1203F probably damaging Het
Adam22 G A 5: 8,186,813 (GRCm39) P436L probably damaging Het
Ak3 A C 19: 29,025,132 (GRCm39) L33R probably damaging Het
Arhgap11a A T 2: 113,672,374 (GRCm39) I198K probably damaging Het
Arl14epl A T 18: 47,065,544 (GRCm39) K103M possibly damaging Het
Atg16l1 T A 1: 87,693,896 (GRCm39) N65K probably damaging Het
Btnl2 G A 17: 34,584,260 (GRCm39) W394* probably null Het
Cacna1e C A 1: 154,296,804 (GRCm39) R1687L probably damaging Het
Cacna1g G T 11: 94,350,433 (GRCm39) R471S probably benign Het
Cdh13 A T 8: 119,578,587 (GRCm39) R205* probably null Het
Cdkl3 A T 11: 51,895,861 (GRCm39) Y36F probably damaging Het
Cep290 T A 10: 100,344,648 (GRCm39) N488K probably damaging Het
Cep350 A T 1: 155,804,240 (GRCm39) C948S probably benign Het
Cep70 A G 9: 99,178,138 (GRCm39) K446R probably benign Het
Cfap70 T C 14: 20,475,597 (GRCm39) T375A probably damaging Het
Cfhr1 A G 1: 139,487,871 (GRCm39) L9S probably damaging Het
Chrm4 T A 2: 91,757,952 (GRCm39) M120K probably damaging Het
Col1a1 A G 11: 94,840,921 (GRCm39) probably null Het
Col3a1 T C 1: 45,362,963 (GRCm39) probably null Het
Csrnp3 A T 2: 65,852,375 (GRCm39) R256* probably null Het
Dbf4 T A 5: 8,458,263 (GRCm39) K190* probably null Het
Dnah10 A T 5: 124,850,196 (GRCm39) I1573F probably damaging Het
Dock8 A G 19: 25,146,858 (GRCm39) I1446V probably benign Het
Dst G T 1: 34,229,943 (GRCm39) R2187M probably damaging Het
Ece2 C T 16: 20,449,918 (GRCm39) R257C probably damaging Het
Espn A G 4: 152,222,961 (GRCm39) Y306H probably damaging Het
Fkbpl G A 17: 34,864,839 (GRCm39) M202I probably benign Het
Fn1 A G 1: 71,681,242 (GRCm39) L362P probably damaging Het
Ganc A C 2: 120,290,304 (GRCm39) R880S probably benign Het
Gucy1b2 A T 14: 62,685,695 (GRCm39) L90Q probably damaging Het
Hcn1 T A 13: 118,062,246 (GRCm39) I504N unknown Het
Hdac2 C A 10: 36,873,462 (GRCm39) T352K probably benign Het
Hip1 T C 5: 135,455,172 (GRCm39) probably null Het
Hspa13 G A 16: 75,562,169 (GRCm39) S10L probably damaging Het
Ipo5 T C 14: 121,157,450 (GRCm39) I96T probably benign Het
Isl1 T C 13: 116,438,220 (GRCm39) Y264C probably damaging Het
Izumo1 T C 7: 45,275,657 (GRCm39) I322T probably benign Het
Kars1 A C 8: 112,729,158 (GRCm39) V183G possibly damaging Het
Lrrc15 C A 16: 30,093,086 (GRCm39) M84I probably benign Het
Magi1 A T 6: 93,671,177 (GRCm39) V796E probably damaging Het
Matn4 G T 2: 164,242,896 (GRCm39) D67E probably benign Het
Mertk A G 2: 128,624,496 (GRCm39) M636V probably damaging Het
Mettl27 C A 5: 134,963,266 (GRCm39) P126T probably damaging Het
Mfrp T A 9: 44,013,432 (GRCm39) H52Q possibly damaging Het
Mrgprb8 T G 7: 48,038,656 (GRCm39) I109R probably benign Het
Mroh2a G A 1: 88,165,666 (GRCm39) G512S probably damaging Het
Ncoa7 T A 10: 30,598,655 (GRCm39) R89S possibly damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nin G T 12: 70,137,325 (GRCm39) H84N possibly damaging Het
Nwd2 A T 5: 63,962,893 (GRCm39) I826F possibly damaging Het
Or10d1 A G 9: 39,484,441 (GRCm39) M38T probably benign Het
Or14c43 T C 7: 86,115,117 (GRCm39) F166S probably damaging Het
Or1j11 G A 2: 36,312,012 (GRCm39) V201I probably benign Het
Or4l15 C T 14: 50,197,646 (GRCm39) M294I probably benign Het
Or52a5b T C 7: 103,416,961 (GRCm39) I214M possibly damaging Het
Or5k3 A G 16: 58,969,393 (GRCm39) Y60C probably damaging Het
Or5p73 T C 7: 108,064,938 (GRCm39) S136P probably benign Het
Otof C T 5: 30,576,748 (GRCm39) R168H probably damaging Het
Pcdha6 T C 18: 37,101,485 (GRCm39) V226A possibly damaging Het
Pggt1b T C 18: 46,391,166 (GRCm39) I200V possibly damaging Het
Ppat G A 5: 77,098,811 (GRCm39) Q41* probably null Het
Ppfibp2 A T 7: 107,342,192 (GRCm39) H27L probably damaging Het
Rbm27 T A 18: 42,460,510 (GRCm39) I775N probably damaging Het
Rnf40 C T 7: 127,191,812 (GRCm39) R349* probably null Het
Rtp3 A T 9: 110,818,544 (GRCm39) W46R probably damaging Het
Sass6 C T 3: 116,403,949 (GRCm39) R196W probably damaging Het
Sel1l A T 12: 91,799,932 (GRCm39) D131E probably benign Het
Slain2 T C 5: 73,106,066 (GRCm39) S234P probably damaging Het
Slc47a1 C T 11: 61,264,176 (GRCm39) probably null Het
Sp140 CAGAAGAAG CAGAAG 1: 85,538,529 (GRCm39) probably benign Het
Spata31e2 T C 1: 26,724,440 (GRCm39) T247A probably benign Het
Spef2 A T 15: 9,713,264 (GRCm39) Y369* probably null Het
Spred2 T A 11: 19,948,233 (GRCm39) M76K possibly damaging Het
Svs5 T A 2: 164,078,806 (GRCm39) D367V probably benign Het
Tasor2 G A 13: 3,634,807 (GRCm39) P667S probably damaging Het
Tefm A T 11: 80,027,947 (GRCm39) D270E probably benign Het
Tfcp2l1 C A 1: 118,597,194 (GRCm39) P425H probably benign Het
Thbd A T 2: 148,248,591 (GRCm39) C426S probably damaging Het
Timm10b T A 7: 105,333,219 (GRCm39) D968E probably damaging Het
Tle2 C T 10: 81,413,518 (GRCm39) T119I probably damaging Het
Tnik T A 3: 28,650,224 (GRCm39) Y446N possibly damaging Het
Tpr T A 1: 150,324,948 (GRCm39) L2400* probably null Het
Trrap T C 5: 144,782,402 (GRCm39) F3328S probably damaging Het
Vldlr G A 19: 27,215,465 (GRCm39) C154Y probably damaging Het
Vmn1r79 T G 7: 11,910,361 (GRCm39) M81R probably benign Het
Vps13d T C 4: 144,812,000 (GRCm39) T3305A possibly damaging Het
Wdr62 T C 7: 29,970,111 (GRCm39) E232G probably damaging Het
Wdr62 T A 7: 29,940,890 (GRCm39) I843F probably benign Het
Zfp747l1 T C 7: 126,984,179 (GRCm39) S308G probably benign Het
Zfp873 T A 10: 81,896,353 (GRCm39) H361Q probably damaging Het
Zfp949 A C 9: 88,452,047 (GRCm39) H539P probably damaging 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
R4979:1700010I14Rik UTSW 17 9,220,643 (GRCm39) missense probably damaging 1.00
R5225:1700010I14Rik UTSW 17 9,226,839 (GRCm39) nonsense probably null
R5383:1700010I14Rik UTSW 17 9,211,532 (GRCm39) missense possibly damaging 0.86
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'- GGTTGAATCTCTCCTGCATGG -3'
(R):5'- CCTGTTTTGTCCAGTTCAAAGTTAC -3'

Sequencing Primer
(F):5'- GAATCTCTCCTGCATGGTTACTTGG -3'
(R):5'- ATCAACAAGCCGAGGATG -3'
Posted On 2016-03-01