Incidental Mutation 'R4692:2310057J18Rik'
ID354981
Institutional Source Beutler Lab
Gene Symbol 2310057J18Rik
Ensembl Gene ENSMUSG00000015519
Gene NameRIKEN cDNA 2310057J18 gene
Synonyms
MMRRC Submission 041943-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R4692 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location28972288-28986303 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 28973886 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 230 (Y230*)
Ref Sequence ENSEMBL: ENSMUSP00000118049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015663] [ENSMUST00000140558] [ENSMUST00000152363]
Predicted Effect probably benign
Transcript: ENSMUST00000015663
AA Change: S293T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000015663
Gene: ENSMUSG00000015519
AA Change: S293T

DomainStartEndE-ValueType
Pfam:DUF781 8 337 4.5e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140558
AA Change: S185T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121044
Gene: ENSMUSG00000015519
AA Change: S185T

DomainStartEndE-ValueType
Pfam:DUF781 1 228 5.1e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141350
Predicted Effect probably null
Transcript: ENSMUST00000152363
AA Change: Y230*
SMART Domains Protein: ENSMUSP00000118049
Gene: ENSMUSG00000015519
AA Change: Y230*

DomainStartEndE-ValueType
Pfam:DUF781 1 237 1.9e-116 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230104M06Rik A T 12: 113,000,072 probably benign Het
Arhgap20 A G 9: 51,785,788 D53G probably damaging Het
Arl2 T C 19: 6,137,746 T54A probably damaging Het
Baz2a G A 10: 128,124,893 G1521S probably damaging Het
Begain A G 12: 109,033,892 S523P probably damaging Het
Car10 T C 11: 93,185,158 probably null Het
Cenpe A G 3: 135,216,379 I66V probably benign Het
Col14a1 T A 15: 55,423,468 V895E unknown Het
Coro1b T C 19: 4,149,419 Y26H probably damaging Het
Crebbp T C 16: 4,114,863 E1017G possibly damaging Het
Cwf19l2 T C 9: 3,428,709 S232P probably damaging Het
Cyp7b1 T A 3: 18,072,564 I473F probably damaging Het
D430042O09Rik T C 7: 125,867,669 probably null Het
Efcab5 A T 11: 77,113,681 I937N probably damaging Het
Fam53c A C 18: 34,768,690 E220A probably damaging Het
Gsn A G 2: 35,298,871 Y434C probably damaging Het
Igkv2-137 T C 6: 67,555,987 S45P possibly damaging Het
Kif13b C A 14: 64,803,575 T1704K probably benign Het
Mapk7 A G 11: 61,489,242 S697P possibly damaging Het
Mrgpra1 T A 7: 47,335,698 I78F probably damaging Het
N6amt1 T C 16: 87,356,966 V97A possibly damaging Het
Oas3 T C 5: 120,769,355 T406A probably benign Het
Olfr1314 A G 2: 112,092,681 S7P probably damaging Het
Olfr895 C T 9: 38,268,530 Q6* probably null Het
Paxip1 T C 5: 27,772,097 probably benign Het
Pfn4 A T 12: 4,774,486 Y71F probably damaging Het
Plin4 C A 17: 56,103,762 G1090C probably damaging Het
Ptk2b C T 14: 66,157,069 G859S probably benign Het
Rbl2 T A 8: 91,122,419 D1084E probably damaging Het
Robo1 T G 16: 72,960,202 S350R probably damaging Het
Sbno2 A G 10: 80,086,327 V4A possibly damaging Het
Sh3rf1 T C 8: 61,353,854 probably null Het
Smgc T C 15: 91,854,561 V474A possibly damaging Het
Snx13 A G 12: 35,086,918 D126G possibly damaging Het
Sox9 C A 11: 112,782,977 H131Q probably benign Het
Spag6 T C 2: 18,699,243 I34T probably benign Het
Speer2 T A 16: 69,857,972 T202S possibly damaging Het
Sspo T A 6: 48,482,687 C3327S probably damaging Het
Vcpip1 G T 1: 9,748,074 A28E unknown Het
Vstm5 A T 9: 15,257,422 D94V probably damaging Het
Zfp329 T C 7: 12,810,632 K322E probably damaging Het
Zfp932 G A 5: 110,009,186 G250D probably damaging Het
Zscan26 A G 13: 21,445,257 C359R probably damaging Het
Other mutations in 2310057J18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:2310057J18Rik APN 10 28973958 nonsense probably null
IGL01123:2310057J18Rik APN 10 28973938 missense probably damaging 1.00
IGL01989:2310057J18Rik APN 10 28986270 missense probably damaging 0.99
IGL02268:2310057J18Rik APN 10 28986246 missense probably benign 0.09
R0114:2310057J18Rik UTSW 10 28985982 splice site probably benign
R1585:2310057J18Rik UTSW 10 28982522 missense possibly damaging 0.95
R1642:2310057J18Rik UTSW 10 28986237 missense probably benign 0.44
R2271:2310057J18Rik UTSW 10 28981579 missense probably damaging 0.98
R4801:2310057J18Rik UTSW 10 28983926 critical splice donor site probably null
R4802:2310057J18Rik UTSW 10 28983926 critical splice donor site probably null
R5548:2310057J18Rik UTSW 10 28973867 missense probably benign 0.06
R5677:2310057J18Rik UTSW 10 28986229 missense probably benign 0.00
X0060:2310057J18Rik UTSW 10 28982510 missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- TGGCATTTAAATGAAGGGTCAC -3'
(R):5'- GGAAAACTGGGCTATTGCTG -3'

Sequencing Primer
(F):5'- AAATGTGGTTGATCATTGGTTTTACC -3'
(R):5'- CTGTGAACTATTTAGCGGCAGCC -3'
Posted On2015-10-21