Incidental Mutation 'R3620:1700010I14Rik'
ID 268618
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 # R3620 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 9207152-9227151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9226864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 473 (M473T)
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: M473T

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024650
Gene: ENSMUSG00000023873
AA Change: M473T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asxl1 C A 2: 153,199,075 (GRCm39) R76S probably damaging Het
Bhlhe41 C A 6: 145,808,733 (GRCm39) G360C possibly damaging Het
Ccdc88a T C 11: 29,380,227 (GRCm39) I201T probably benign Het
Ccng1 T C 11: 40,642,992 (GRCm39) T152A probably benign Het
Cep192 T C 18: 67,962,928 (GRCm39) V648A probably benign Het
Cldn16 T A 16: 26,296,302 (GRCm39) F93I possibly damaging Het
Csmd1 T C 8: 16,042,684 (GRCm39) S2350G probably benign Het
Enpp6 T C 8: 47,518,540 (GRCm39) W223R probably benign Het
Fah T C 7: 84,238,159 (GRCm39) probably null Het
Fat2 A T 11: 55,147,521 (GRCm39) V3907D probably damaging Het
Fsip2 C A 2: 82,810,602 (GRCm39) T2307K probably benign Het
Gcg T C 2: 62,307,279 (GRCm39) E94G probably damaging Het
Gramd1b C A 9: 40,366,842 (GRCm39) R42L probably benign Het
H2bc9 C A 13: 23,727,324 (GRCm39) V67L probably benign Het
Hdc T A 2: 126,458,187 (GRCm39) Y45F possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igsf10 T G 3: 59,243,752 (GRCm39) D194A probably damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lrpprc A T 17: 85,077,452 (GRCm39) C412S probably benign Het
Mga T A 2: 119,747,149 (GRCm39) D433E probably damaging Het
Myo15a A T 11: 60,369,468 (GRCm39) S743C possibly damaging Het
Myo15b T G 11: 115,762,013 (GRCm39) L1176R possibly damaging Het
Ndor1 T C 2: 25,138,047 (GRCm39) Q526R probably damaging Het
Nipbl A G 15: 8,362,508 (GRCm39) I1429T probably damaging Het
Or1d2 T A 11: 74,256,050 (GRCm39) L185Q probably damaging Het
Or4c126 T C 2: 89,824,196 (GRCm39) I153T probably damaging Het
Or4k38 T A 2: 111,165,689 (GRCm39) I245L probably benign Het
Otogl T C 10: 107,710,232 (GRCm39) D619G probably damaging Het
Pa2g4 C G 10: 128,399,464 (GRCm39) E67Q probably damaging Het
Pnpla1 C T 17: 29,096,362 (GRCm39) A147V probably damaging Het
Prdm13 A G 4: 21,683,532 (GRCm39) Y143H unknown Het
Rad23a A G 8: 85,567,193 (GRCm39) M1T probably null Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Slc10a2 A T 8: 5,154,909 (GRCm39) I92N probably damaging Het
Slc24a4 T C 12: 102,185,222 (GRCm39) F111L probably damaging Het
Sox11 T C 12: 27,391,735 (GRCm39) T225A probably benign Het
Thbs1 T C 2: 117,951,640 (GRCm39) V820A probably benign Het
Unc45a G T 7: 79,983,799 (GRCm39) N332K possibly damaging Het
Vmn1r159 A C 7: 22,542,258 (GRCm39) I258S possibly damaging Het
Wdr31 A T 4: 62,375,701 (GRCm39) F251L possibly damaging Het
Wdr43 C T 17: 71,957,601 (GRCm39) T530M probably benign Het
Zfp445 C T 9: 122,681,833 (GRCm39) A703T 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
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
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'- ACCTGTTTTGTCCAGTTCAAAG -3'

Sequencing Primer
(F):5'- GAATCTCTCCTGCATGGTTACTTGG -3'
(R):5'- CTGTTTTGTCCAGTTCAAAGTTACAG -3'
Posted On 2015-02-19