Incidental Mutation 'R1188:9130230L23Rik'
ID 102345
Institutional Source Beutler Lab
Gene Symbol 9130230L23Rik
Ensembl Gene ENSMUSG00000054598
Gene Name RIKEN cDNA 9130230L23 gene
Synonyms
MMRRC Submission 039260-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # R1188 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 66145271-66161628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66147741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 14 (Y14C)
Ref Sequence ENSEMBL: ENSMUSP00000143918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165250] [ENSMUST00000201351]
AlphaFold Q8CC80
Predicted Effect unknown
Transcript: ENSMUST00000067737
AA Change: Y14C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125452
AA Change: T168A
Predicted Effect unknown
Transcript: ENSMUST00000165250
AA Change: Y14C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175329
Predicted Effect unknown
Transcript: ENSMUST00000201351
AA Change: Y14C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202773
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 T C 19: 56,913,501 (GRCm39) K312E probably damaging Het
Amigo2 T A 15: 97,143,594 (GRCm39) E276V probably benign Het
Atf2 A G 2: 73,675,881 (GRCm39) F114L probably damaging Het
Avpr1a G T 10: 122,284,824 (GRCm39) G39C possibly damaging Het
Ccpg1 A G 9: 72,919,788 (GRCm39) R468G possibly damaging Het
Celf6 G T 9: 59,497,961 (GRCm39) R130L probably benign Het
Dsp T C 13: 38,378,939 (GRCm39) S1296P probably damaging Het
Fnip2 C T 3: 79,369,469 (GRCm39) R1072H probably damaging Het
Fsip2 G T 2: 82,805,361 (GRCm39) C560F possibly damaging Het
Get3 A G 8: 85,746,422 (GRCm39) I142T probably damaging Het
Gpr20 A C 15: 73,567,617 (GRCm39) H257Q probably damaging Het
Gys2 T A 6: 142,400,909 (GRCm39) H297L probably damaging Het
Habp2 G A 19: 56,300,154 (GRCm39) S201N probably benign Het
Hars2 T C 18: 36,921,022 (GRCm39) I198T probably damaging Het
Jag2 G A 12: 112,883,741 (GRCm39) Q247* probably null Het
Jam2 A G 16: 84,603,755 (GRCm39) T81A probably damaging Het
Mrps26 G A 2: 130,406,301 (GRCm39) E145K probably damaging Het
Nup210l T C 3: 90,105,486 (GRCm39) F1545L probably benign Het
Or10d4c A G 9: 39,558,772 (GRCm39) Y250C probably damaging Het
Pikfyve T A 1: 65,286,118 (GRCm39) V1074D possibly damaging Het
Prkag1 T A 15: 98,712,479 (GRCm39) I118F probably damaging Het
R3hdm2 G A 10: 127,288,624 (GRCm39) V91I probably benign Het
Rnf168 T C 16: 32,117,477 (GRCm39) V346A probably benign Het
Slc17a7 T C 7: 44,819,311 (GRCm39) V129A possibly damaging Het
Snai3 T A 8: 123,181,701 (GRCm39) Q252L probably damaging Het
Snx17 T C 5: 31,353,166 (GRCm39) V133A probably benign Het
Stt3a A G 9: 36,662,636 (GRCm39) S59P probably damaging Het
Sun1 C T 5: 139,224,611 (GRCm39) R546C probably damaging Het
Thsd4 T A 9: 60,301,689 (GRCm39) Q202L probably benign Het
Tnrc6b A G 15: 80,763,430 (GRCm39) T311A probably benign Het
Tshr T A 12: 91,468,942 (GRCm39) D18E probably benign Het
Ttn A T 2: 76,619,773 (GRCm39) L15965Q probably damaging Het
Wnk1 C A 6: 119,925,670 (GRCm39) E1265* probably null Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Other mutations in 9130230L23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:9130230L23Rik APN 5 66,147,187 (GRCm39) missense unknown
IGL02186:9130230L23Rik APN 5 66,145,811 (GRCm39) missense unknown
R0400:9130230L23Rik UTSW 5 66,147,699 (GRCm39) missense unknown
R1078:9130230L23Rik UTSW 5 66,145,698 (GRCm39) missense unknown
R1867:9130230L23Rik UTSW 5 66,157,560 (GRCm39) start codon destroyed probably null
R1868:9130230L23Rik UTSW 5 66,157,560 (GRCm39) start codon destroyed probably null
R5903:9130230L23Rik UTSW 5 66,145,661 (GRCm39) missense unknown
R5925:9130230L23Rik UTSW 5 66,147,735 (GRCm39) nonsense probably null
R7318:9130230L23Rik UTSW 5 66,145,771 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACTTCTAGGCCAATCAGTGCCAAAG -3'
(R):5'- CCCAGGCAATAATGTGTGCCATTTC -3'

Sequencing Primer
(F):5'- ACATTGGCTGACCACATTGG -3'
(R):5'- AATGTGTGCCATTTCAAAGCCC -3'
Posted On 2014-01-15