Incidental Mutation 'R2271:2310057J18Rik'
ID 242487
Institutional Source Beutler Lab
Gene Symbol 2310057J18Rik
Ensembl Gene ENSMUSG00000015519
Gene Name RIKEN cDNA 2310057J18 gene
Synonyms
MMRRC Submission 040271-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2271 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 28848284-28862299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28857575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 194 (Q194L)
Ref Sequence ENSEMBL: ENSMUSP00000015663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015663] [ENSMUST00000140558] [ENSMUST00000152363]
AlphaFold Q8C6C9
Predicted Effect probably damaging
Transcript: ENSMUST00000015663
AA Change: Q194L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000015663
Gene: ENSMUSG00000015519
AA Change: Q194L

DomainStartEndE-ValueType
Pfam:DUF781 8 337 4.5e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140558
AA Change: Q86L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121044
Gene: ENSMUSG00000015519
AA Change: Q86L

DomainStartEndE-ValueType
Pfam:DUF781 1 228 5.1e-100 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000152363
AA Change: Q194L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118049
Gene: ENSMUSG00000015519
AA Change: Q194L

DomainStartEndE-ValueType
Pfam:DUF781 1 237 1.9e-116 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 T A 11: 94,449,699 (GRCm39) K574* probably null Het
Adam22 T C 5: 8,171,108 (GRCm39) E614G probably damaging Het
Ap4e1 T C 2: 126,889,083 (GRCm39) probably null Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Bcan T A 3: 87,900,401 (GRCm39) S611C probably damaging Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Ccdc146 C A 5: 21,604,719 (GRCm39) D40Y probably benign Het
Ccdc83 C T 7: 89,873,285 (GRCm39) V357I probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Chd7 A G 4: 8,785,532 (GRCm39) D612G probably damaging Het
Chst11 T C 10: 83,027,004 (GRCm39) Y144H probably damaging Het
Cops6 A T 5: 138,159,403 (GRCm39) N10I probably benign Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Cyp27a1 A G 1: 74,775,846 (GRCm39) N344D probably damaging Het
Des T G 1: 75,340,137 (GRCm39) M348R probably damaging Het
Dis3l T A 9: 64,238,165 (GRCm39) D109V probably damaging Het
Disp3 C T 4: 148,356,059 (GRCm39) R267Q possibly damaging Het
Dnah3 T A 7: 119,574,352 (GRCm39) I2136F probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Dnajb14 G A 3: 137,591,141 (GRCm39) G31S probably benign Het
Dop1a T G 9: 86,376,471 (GRCm39) V235G probably damaging Het
Efcab6 T A 15: 83,831,200 (GRCm39) R571S probably benign Het
Emsy T G 7: 98,275,830 (GRCm39) K352N probably damaging Het
Erbb4 T C 1: 68,238,047 (GRCm39) N814S probably damaging Het
Fgfbp1 T A 5: 44,136,672 (GRCm39) M207L probably benign Het
Filip1 T C 9: 79,727,212 (GRCm39) E469G probably damaging Het
Garem2 T G 5: 30,321,972 (GRCm39) L777R probably damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hkdc1 T C 10: 62,253,677 (GRCm39) T35A probably benign Het
Hps6 C T 19: 45,994,121 (GRCm39) A686V possibly damaging Het
Irs1 T C 1: 82,266,180 (GRCm39) S679G probably benign Het
Ism1 T A 2: 139,599,293 (GRCm39) I415N probably damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mocs1 A T 17: 49,756,137 (GRCm39) K198M probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msh5 A G 17: 35,263,366 (GRCm39) I154T probably benign Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Neu3 G C 7: 99,462,650 (GRCm39) R358G probably benign Het
Ntrk3 A C 7: 78,166,471 (GRCm39) probably null Het
Or1n1 G A 2: 36,749,637 (GRCm39) S241F probably damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Or8j3 A G 2: 86,028,161 (GRCm39) F312L probably benign Het
Pik3c2b T C 1: 133,031,166 (GRCm39) S1491P probably benign Het
Plb1 G T 5: 32,450,586 (GRCm39) D376Y probably damaging Het
Plch1 T A 3: 63,651,956 (GRCm39) K378N probably damaging Het
Plekhm1 C T 11: 103,277,948 (GRCm39) E383K probably benign Het
Plxnb1 T C 9: 108,931,776 (GRCm39) probably null Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Psma5-ps A G 10: 85,149,595 (GRCm39) noncoding transcript Het
Ptprh C A 7: 4,606,132 (GRCm39) probably benign Het
Rngtt T A 4: 33,500,302 (GRCm39) C565* probably null Het
Sacs A G 14: 61,442,109 (GRCm39) H1385R probably benign Het
Sec24a A G 11: 51,607,277 (GRCm39) S656P possibly damaging Het
Serpinb13 A T 1: 106,926,756 (GRCm39) I251L possibly damaging Het
Shc1 G A 3: 89,330,849 (GRCm39) G91S probably damaging Het
Sin3b T A 8: 73,460,047 (GRCm39) N211K probably benign Het
Slc22a2 A T 17: 12,805,692 (GRCm39) M148L probably benign Het
Slc3a1 G A 17: 85,371,220 (GRCm39) V591I probably benign Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Spag17 C T 3: 100,014,113 (GRCm39) P2129S probably damaging Het
Specc1l C T 10: 75,081,438 (GRCm39) S278F probably damaging Het
Sphkap T A 1: 83,234,942 (GRCm39) D1628V probably damaging Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
U2surp T C 9: 95,373,473 (GRCm39) E232G possibly damaging Het
Usp25 T A 16: 76,873,317 (GRCm39) F458L probably damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r10 A G 6: 57,091,088 (GRCm39) T227A probably damaging Het
Zcchc12 C T X: 35,462,118 (GRCm39) T345M possibly damaging Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Zfp799 A G 17: 33,040,777 (GRCm39) Y58H probably damaging Het
Zfp938 C T 10: 82,061,381 (GRCm39) G413D probably damaging Het
Other mutations in 2310057J18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:2310057J18Rik APN 10 28,849,954 (GRCm39) nonsense probably null
IGL01123:2310057J18Rik APN 10 28,849,934 (GRCm39) missense probably damaging 1.00
IGL01989:2310057J18Rik APN 10 28,862,266 (GRCm39) missense probably damaging 0.99
IGL02268:2310057J18Rik APN 10 28,862,242 (GRCm39) missense probably benign 0.09
R0114:2310057J18Rik UTSW 10 28,861,978 (GRCm39) splice site probably benign
R1585:2310057J18Rik UTSW 10 28,858,518 (GRCm39) missense possibly damaging 0.95
R1642:2310057J18Rik UTSW 10 28,862,233 (GRCm39) missense probably benign 0.44
R4692:2310057J18Rik UTSW 10 28,849,882 (GRCm39) nonsense probably null
R4801:2310057J18Rik UTSW 10 28,859,922 (GRCm39) critical splice donor site probably null
R4802:2310057J18Rik UTSW 10 28,859,922 (GRCm39) critical splice donor site probably null
R5548:2310057J18Rik UTSW 10 28,849,863 (GRCm39) missense probably benign 0.06
R5677:2310057J18Rik UTSW 10 28,862,225 (GRCm39) missense probably benign 0.00
R7260:2310057J18Rik UTSW 10 28,849,882 (GRCm39) missense probably benign 0.07
R8024:2310057J18Rik UTSW 10 28,862,213 (GRCm39) missense possibly damaging 0.62
R8024:2310057J18Rik UTSW 10 28,858,591 (GRCm39) nonsense probably null
R8685:2310057J18Rik UTSW 10 28,862,140 (GRCm39) missense probably damaging 1.00
R9326:2310057J18Rik UTSW 10 28,849,882 (GRCm39) nonsense probably null
R9583:2310057J18Rik UTSW 10 28,862,092 (GRCm39) missense probably damaging 1.00
X0060:2310057J18Rik UTSW 10 28,858,506 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- GTCCTCCAATATCATAATCACCAAAT -3'
(R):5'- GCTCCTTTCAAATGGATGATATGT -3'

Sequencing Primer
(F):5'- CAAGTGGATGCAACCTACTGTAG -3'
(R):5'- GCTGTTAAGCACTAGGGATAG -3'
Posted On 2014-10-16