Incidental Mutation 'IGL02903:4931417E11Rik'
ID363703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4931417E11Rik
Ensembl Gene ENSMUSG00000056197
Gene NameRIKEN cDNA 4931417E11 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL02903
Quality Score
Status
Chromosome6
Chromosomal Location73468573-73469667 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73469120 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 149 (Y149H)
Ref Sequence ENSEMBL: ENSMUSP00000068770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070163]
Predicted Effect probably damaging
Transcript: ENSMUST00000070163
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068770
Gene: ENSMUSG00000056197
AA Change: Y149H

DomainStartEndE-ValueType
Pfam:DUF766 3 294 3.1e-113 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205241
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,269,778 R3150M unknown Het
2410089E03Rik G T 15: 8,269,779 R3150S unknown Het
Alox5 T G 6: 116,420,335 N296T probably damaging Het
Anks6 C T 4: 47,045,004 E301K probably damaging Het
Astn1 A G 1: 158,688,550 S1237G probably damaging Het
Atf6 G A 1: 170,799,714 P394S probably benign Het
Atp4a G A 7: 30,715,919 M321I probably benign Het
C4bp G A 1: 130,655,985 T82I probably damaging Het
Cask A T X: 13,552,447 probably benign Het
Cenpf A T 1: 189,646,876 S2906T probably damaging Het
Cfl1 T C 19: 5,492,800 F103L probably benign Het
Chrnb3 A T 8: 27,386,806 T83S probably damaging Het
Cmtr2 A G 8: 110,222,878 T607A probably benign Het
Cts7 A T 13: 61,356,626 probably benign Het
Dgkz A T 2: 91,939,962 Y514N possibly damaging Het
Dmrtc1b T A X: 102,713,567 L206Q probably benign Het
Dus3l C T 17: 56,768,363 L397F probably damaging Het
Fam159b T A 13: 104,863,610 Y35F probably benign Het
Gm13089 A T 4: 143,699,166 M69K probably benign Het
Gm6356 C T 14: 6,973,735 G27E probably damaging Het
Hkdc1 C T 10: 62,400,191 probably null Het
Kcmf1 A T 6: 72,858,883 V21E possibly damaging Het
Kcnh4 T A 11: 100,757,654 T75S possibly damaging Het
Lemd2 A G 17: 27,193,210 probably benign Het
Magee1 G T X: 105,123,339 R910L probably damaging Het
Mcm3ap T C 10: 76,471,258 probably benign Het
Mfsd4b3 T A 10: 39,947,643 E207V possibly damaging Het
Olfr1354 A G 10: 78,917,416 D192G probably damaging Het
Olfr697 A G 7: 106,741,710 S75P probably damaging Het
Pappa T C 4: 65,261,980 V1026A probably damaging Het
Paxip1 A G 5: 27,748,872 L942P probably damaging Het
Ppp1r12b A T 1: 134,955,649 L45Q probably benign Het
Ptprq T C 10: 107,666,586 T824A possibly damaging Het
Rfwd3 T C 8: 111,278,229 T574A probably benign Het
Rsbn1 T C 3: 103,928,569 S308P probably damaging Het
Smr2 A T 5: 88,108,630 I56F probably benign Het
Wdfy4 C T 14: 33,109,650 R873H probably damaging Het
Other mutations in 4931417E11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01566:4931417E11Rik APN 6 73468690 missense probably damaging 1.00
IGL01768:4931417E11Rik APN 6 73468916 missense possibly damaging 0.83
R0084:4931417E11Rik UTSW 6 73468935 nonsense probably null
R0123:4931417E11Rik UTSW 6 73469419 missense possibly damaging 0.49
R0225:4931417E11Rik UTSW 6 73469419 missense possibly damaging 0.49
R1478:4931417E11Rik UTSW 6 73469056 missense probably damaging 1.00
R1640:4931417E11Rik UTSW 6 73468886 missense probably benign 0.13
R4616:4931417E11Rik UTSW 6 73469269 missense probably benign 0.02
R5451:4931417E11Rik UTSW 6 73468867 missense probably benign 0.00
R5875:4931417E11Rik UTSW 6 73469045 missense possibly damaging 0.50
R5911:4931417E11Rik UTSW 6 73468691 missense probably damaging 0.99
R6784:4931417E11Rik UTSW 6 73468935 nonsense probably null
R6982:4931417E11Rik UTSW 6 73469544 nonsense probably null
X0024:4931417E11Rik UTSW 6 73469050 missense probably damaging 0.98
Posted On2015-12-18