Incidental Mutation 'R5138:4931429L15Rik'
ID 396289
Institutional Source Beutler Lab
Gene Symbol 4931429L15Rik
Ensembl Gene ENSMUSG00000056617
Gene Name RIKEN cDNA 4931429L15 gene
Synonyms
MMRRC Submission 042724-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5138 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 46214659-46231284 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 46218119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159565] [ENSMUST00000160795] [ENSMUST00000172280]
AlphaFold E9PVU2
Predicted Effect probably null
Transcript: ENSMUST00000159565
SMART Domains Protein: ENSMUSP00000124991
Gene: ENSMUSG00000056617

DomainStartEndE-ValueType
low complexity region 80 87 N/A INTRINSIC
low complexity region 259 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160795
Predicted Effect probably null
Transcript: ENSMUST00000172280
SMART Domains Protein: ENSMUSP00000128017
Gene: ENSMUSG00000056617

DomainStartEndE-ValueType
low complexity region 80 87 N/A INTRINSIC
low complexity region 259 272 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 G A 12: 71,008,653 (GRCm39) G362E probably damaging Het
Aldh1a3 T C 7: 66,057,600 (GRCm39) T278A probably damaging Het
Arpp21 T A 9: 112,008,152 (GRCm39) K116M probably damaging Het
Arrdc3 T C 13: 81,039,184 (GRCm39) Y72H probably damaging Het
Atr T C 9: 95,819,649 (GRCm39) V2212A probably benign Het
Bcdin3d A G 15: 99,368,932 (GRCm39) F89S possibly damaging Het
Cacna1d C A 14: 30,212,929 (GRCm39) A44S probably benign Het
Cbx3 A G 6: 51,452,269 (GRCm39) E28G probably damaging Het
Cdh23 A T 10: 60,148,061 (GRCm39) F2722L probably damaging Het
Clec11a A G 7: 43,954,062 (GRCm39) V297A probably benign Het
Clk2 C A 3: 89,082,806 (GRCm39) probably benign Het
Clybl T A 14: 122,608,716 (GRCm39) C103S possibly damaging Het
Col12a1 T A 9: 79,551,248 (GRCm39) N2123Y probably damaging Het
Corin G A 5: 72,496,402 (GRCm39) P517L probably damaging Het
Ddhd2 A T 8: 26,217,726 (GRCm39) I717N probably damaging Het
Derl2 C A 11: 70,905,390 (GRCm39) G31* probably null Het
Dgcr8 A G 16: 18,095,941 (GRCm39) V523A probably damaging Het
Dnah8 T C 17: 30,984,571 (GRCm39) S3090P probably damaging Het
Dsp C A 13: 38,367,274 (GRCm39) H641N probably benign Het
Dsp A T 13: 38,379,821 (GRCm39) T1590S possibly damaging Het
Duox2 A T 2: 122,128,012 (GRCm39) L57Q probably damaging Het
Etfdh A T 3: 79,530,880 (GRCm39) V47D probably benign Het
Exoc1 T C 5: 76,715,922 (GRCm39) Y823H probably damaging Het
Fam81a C T 9: 70,006,457 (GRCm39) R185K probably benign Het
Fsip2 A G 2: 82,811,768 (GRCm39) I2696V probably benign Het
Glis1 GCACACA GCACA 4: 107,480,302 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,246,664 (GRCm39) N1548K probably benign Het
H3c2 G A 13: 23,936,613 (GRCm39) R84H probably damaging Het
Hkdc1 A T 10: 62,234,470 (GRCm39) I575N probably damaging Het
Ifi208 A G 1: 173,518,239 (GRCm39) I449V probably null Het
Ino80 T C 2: 119,213,902 (GRCm39) T1223A probably damaging Het
Kctd9 T C 14: 67,966,197 (GRCm39) probably null Het
Khdrbs1 A G 4: 129,635,647 (GRCm39) Y103H probably benign Het
Kmt2e A G 5: 23,707,693 (GRCm39) H1752R probably damaging Het
Lrp5 T A 19: 3,678,319 (GRCm39) Q512L probably benign Het
Map2k5 T C 9: 63,170,440 (GRCm39) T293A probably damaging Het
Myo7a C A 7: 97,732,806 (GRCm39) R657L probably damaging Het
Myrfl A G 10: 116,631,963 (GRCm39) probably null Het
Nfatc2 G A 2: 168,378,229 (GRCm39) H258Y probably damaging Het
Nup205 T A 6: 35,202,801 (GRCm39) L1336Q probably damaging Het
Or10z1 A G 1: 174,078,395 (GRCm39) S33P probably damaging Het
Or4c113 T C 2: 88,885,291 (GRCm39) I160V probably benign Het
Or5an10 T C 19: 12,276,140 (GRCm39) M119V possibly damaging Het
Otog T A 7: 45,899,430 (GRCm39) S244T possibly damaging Het
Pcdh17 T G 14: 84,684,649 (GRCm39) I372S probably damaging Het
Pira13 A T 7: 3,827,556 (GRCm39) Y200* probably null Het
Plagl1 A G 10: 13,003,919 (GRCm39) probably benign Het
Pnpla7 T C 2: 24,931,115 (GRCm39) F910S possibly damaging Het
Prdm13 G A 4: 21,679,507 (GRCm39) P328S unknown Het
Prdm5 C T 6: 65,833,086 (GRCm39) Q152* probably null Het
Psat1 A G 19: 15,892,312 (GRCm39) F216S possibly damaging Het
Psg21 A T 7: 18,390,453 (GRCm39) M1K probably null Het
Rab11fip3 A T 17: 26,210,000 (GRCm39) S994T probably benign Het
Rax A G 18: 66,071,389 (GRCm39) probably benign Het
Rgs22 A T 15: 36,099,934 (GRCm39) S260R probably benign Het
Ryr2 A T 13: 11,675,175 (GRCm39) H3317Q probably damaging Het
Sc5d A G 9: 42,166,811 (GRCm39) Y243H probably damaging Het
Serpinf1 T C 11: 75,305,854 (GRCm39) E178G probably damaging Het
Slc15a3 A T 19: 10,833,369 (GRCm39) Y462F probably damaging Het
Slc9b1 G A 3: 135,063,534 (GRCm39) probably benign Het
Slit2 C T 5: 48,439,309 (GRCm39) P1111S probably damaging Het
Slit3 T C 11: 35,479,812 (GRCm39) Y330H probably damaging Het
Snw1 T C 12: 87,507,205 (GRCm39) K204E probably benign Het
Steap1 A G 5: 5,786,486 (GRCm39) I317T probably damaging Het
Sval2 A G 6: 41,838,879 (GRCm39) N20S probably damaging Het
Tfrc C A 16: 32,434,027 (GRCm39) Y85* probably null Het
Tmem87a T C 2: 120,202,026 (GRCm39) T412A possibly damaging Het
Utp20 T C 10: 88,583,239 (GRCm39) K2705E probably damaging Het
Vmn1r230 A T 17: 21,067,230 (GRCm39) K140* probably null Het
Vmn2r62 A T 7: 42,414,240 (GRCm39) H734Q possibly damaging Het
Zbtb8os T A 4: 129,240,719 (GRCm39) probably benign Het
Zfp608 A T 18: 55,024,871 (GRCm39) H1466Q probably damaging Het
Zfp957 C T 14: 79,450,362 (GRCm39) C479Y probably damaging Het
Other mutations in 4931429L15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:4931429L15Rik APN 9 46,220,250 (GRCm39) missense possibly damaging 0.95
IGL01649:4931429L15Rik APN 9 46,217,116 (GRCm39) missense probably benign 0.00
R0094:4931429L15Rik UTSW 9 46,218,184 (GRCm39) missense possibly damaging 0.94
R0094:4931429L15Rik UTSW 9 46,218,184 (GRCm39) missense possibly damaging 0.94
R1496:4931429L15Rik UTSW 9 46,221,552 (GRCm39) unclassified probably benign
R1971:4931429L15Rik UTSW 9 46,220,086 (GRCm39) missense probably benign 0.00
R2139:4931429L15Rik UTSW 9 46,215,593 (GRCm39) missense probably damaging 0.96
R4078:4931429L15Rik UTSW 9 46,215,359 (GRCm39) nonsense probably null
R4780:4931429L15Rik UTSW 9 46,220,144 (GRCm39) missense possibly damaging 0.90
R5088:4931429L15Rik UTSW 9 46,217,038 (GRCm39) missense probably benign 0.00
R5419:4931429L15Rik UTSW 9 46,220,624 (GRCm39) critical splice donor site probably null
R5734:4931429L15Rik UTSW 9 46,215,303 (GRCm39) unclassified probably benign
R5739:4931429L15Rik UTSW 9 46,220,717 (GRCm39) missense probably benign 0.27
R5907:4931429L15Rik UTSW 9 46,218,120 (GRCm39) missense probably damaging 0.97
R6127:4931429L15Rik UTSW 9 46,220,220 (GRCm39) missense probably damaging 1.00
R6564:4931429L15Rik UTSW 9 46,218,202 (GRCm39) missense probably damaging 0.99
R7556:4931429L15Rik UTSW 9 46,221,611 (GRCm39) nonsense probably null
R7818:4931429L15Rik UTSW 9 46,215,519 (GRCm39) missense probably benign 0.01
R8894:4931429L15Rik UTSW 9 46,216,397 (GRCm39) missense probably benign 0.24
R8962:4931429L15Rik UTSW 9 46,220,173 (GRCm39) missense probably benign 0.01
X0024:4931429L15Rik UTSW 9 46,220,267 (GRCm39) small deletion probably benign
Z1177:4931429L15Rik UTSW 9 46,217,136 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CTCAGGTGACATCAAAGGTCAGG -3'
(R):5'- AAGTTCAAGTCCGCCCTCAG -3'

Sequencing Primer
(F):5'- ACTAGAGGGAAGTCTAAAATTCCTG -3'
(R):5'- GCTACATACACAATACTTCCAGGTC -3'
Posted On 2016-06-21