Incidental Mutation 'R0547:2310057N15Rik'
ID44932
Institutional Source Beutler Lab
Gene Symbol 2310057N15Rik
Ensembl Gene ENSMUSG00000048830
Gene NameRIKEN cDNA 2310057N15 gene
Synonyms
MMRRC Submission 038739-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.144) question?
Stock #R0547 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location88773179-88774206 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88773610 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 181 (Y181H)
Ref Sequence ENSEMBL: ENSMUSP00000062370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009191] [ENSMUST00000054223]
Predicted Effect probably benign
Transcript: ENSMUST00000009191
SMART Domains Protein: ENSMUSP00000009191
Gene: ENSMUSG00000009047

DomainStartEndE-ValueType
Pfam:PMG 1 77 1e-28 PFAM
Pfam:PMG 74 196 2.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054223
AA Change: Y181H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000062370
Gene: ENSMUSG00000048830
AA Change: Y181H

DomainStartEndE-ValueType
Pfam:PMG 1 77 1.6e-28 PFAM
Pfam:PMG 74 200 7.5e-51 PFAM
Meta Mutation Damage Score 0.156 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik A G 13: 31,558,830 probably benign Het
Adamtsl1 A G 4: 86,356,355 D1208G probably benign Het
Ankrd55 T C 13: 112,368,223 F501S probably benign Het
Aox2 G A 1: 58,310,042 D656N probably damaging Het
Atr A T 9: 95,899,165 probably benign Het
Bicra G A 7: 15,972,248 R1423W probably damaging Het
Cabyr T A 18: 12,751,016 S187T probably benign Het
Car5b G A X: 163,979,301 R282C probably damaging Het
Cdon A T 9: 35,457,498 T343S possibly damaging Het
Cep350 C T 1: 155,901,435 probably null Het
Copa T C 1: 172,121,687 probably benign Het
Cyp4f18 T C 8: 71,996,010 D265G probably benign Het
Dgkb T A 12: 38,604,158 C759S probably benign Het
Dnah6 T C 6: 73,044,774 M3470V probably benign Het
Eif4g2 T C 7: 111,078,293 N177S probably damaging Het
Etfb C T 7: 43,454,578 Q145* probably null Het
Flnb T A 14: 7,912,943 probably null Het
G430095P16Rik G A 8: 84,726,642 probably benign Het
Gfral A T 9: 76,208,642 S17T probably benign Het
Gm884 T C 11: 103,620,164 N326S unknown Het
Gpr26 T C 7: 131,984,297 I332T probably benign Het
Greb1 T A 12: 16,723,411 T221S probably benign Het
Haus5 A T 7: 30,659,083 S289T probably damaging Het
Ighv6-4 T C 12: 114,406,601 Y77C probably damaging Het
Il23r A T 6: 67,423,701 D548E probably benign Het
Il23r A T 6: 67,486,251 F86Y possibly damaging Het
Inppl1 A T 7: 101,831,003 M424K probably benign Het
Jam3 A G 9: 27,098,888 Y267H probably damaging Het
Mms19 A T 19: 41,963,418 M160K probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 probably null Het
Mup5 A G 4: 61,833,000 L137P probably damaging Het
Mylk G C 16: 34,879,475 E403Q possibly damaging Het
Ntrk2 G A 13: 58,874,370 S413N probably damaging Het
Nuak2 C A 1: 132,332,203 T573N probably benign Het
Odf3 A G 7: 140,848,815 probably null Het
Olfr651 G A 7: 104,553,356 V146M probably benign Het
Olfr734 A T 14: 50,320,118 I239K probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,748,449 probably benign Het
Pclo T A 5: 14,792,072 I4787N unknown Het
Pde8a G T 7: 81,324,130 V612L probably benign Het
Pear1 A T 3: 87,788,800 probably null Het
Pgbd1 A G 13: 21,423,518 Y169H probably damaging Het
Pkd1l1 A G 11: 8,836,448 probably benign Het
Prkag3 C T 1: 74,744,720 probably null Het
Rsph9 A T 17: 46,144,124 S9T possibly damaging Het
Rxfp1 A T 3: 79,705,569 probably null Het
Senp7 A G 16: 56,175,826 E756G probably damaging Het
Serpina1e G T 12: 103,949,191 T252K probably benign Het
Sipa1l1 T A 12: 82,437,736 S1555T probably benign Het
Slain1 T C 14: 103,695,275 S432P probably damaging Het
Slc37a2 A T 9: 37,233,122 probably null Het
Thg1l C T 11: 45,954,191 R18Q probably damaging Het
Tnn A G 1: 160,116,337 probably benign Het
Trim32 G A 4: 65,613,254 R16Q probably damaging Het
Tshz3 A G 7: 36,771,417 T944A probably damaging Het
Ttn C G 2: 76,854,430 probably benign Het
Ythdc2 T C 18: 44,840,264 S323P possibly damaging Het
Zfp827 A G 8: 79,060,310 N35S probably damaging Het
Other mutations in 2310057N15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02953:2310057N15Rik APN 16 88773646 missense possibly damaging 0.89
R5008:2310057N15Rik UTSW 16 88773775 missense probably damaging 0.99
R7272:2310057N15Rik UTSW 16 88773635 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTTGAGTTCCCCAACCCATAAACG -3'
(R):5'- GGGCACATATGCTGGCTCTCTG -3'

Sequencing Primer
(F):5'- TTGAGGCATACTAGGGATTACAC -3'
(R):5'- CTGGCTCTCTGGGCTTTG -3'
Posted On2013-06-11