Incidental Mutation 'IGL02117:4921509C19Rik'
ID280409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4921509C19Rik
Ensembl Gene ENSMUSG00000061525
Gene NameRIKEN cDNA 4921509C19 gene
SynonymsLOC381389
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02117
Quality Score
Status
Chromosome2
Chromosomal Location151470542-151476153 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 151473546 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 71 (M71L)
Ref Sequence ENSEMBL: ENSMUSP00000079030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080132]
Predicted Effect probably benign
Transcript: ENSMUST00000080132
AA Change: M71L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000079030
Gene: ENSMUSG00000061525
AA Change: M71L

DomainStartEndE-ValueType
S_TKc 24 271 2.18e-97 SMART
low complexity region 430 447 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155885
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,323,825 probably benign Het
Ago4 T C 4: 126,516,852 T249A probably benign Het
Ahr A T 12: 35,512,923 C92* probably null Het
Arhgap17 G A 7: 123,286,773 probably benign Het
Arid1a G T 4: 133,692,815 T992K unknown Het
Camk2a A G 18: 60,977,989 I83M probably damaging Het
Ccdc154 T C 17: 25,167,818 probably null Het
Chtf18 T C 17: 25,722,203 H607R possibly damaging Het
Col25a1 T C 3: 130,519,773 probably benign Het
Col9a1 C T 1: 24,237,493 Q530* probably null Het
Cryl1 G T 14: 57,286,447 D219E probably damaging Het
Cul3 A T 1: 80,323,064 probably benign Het
Cul9 C A 17: 46,540,375 R373L probably benign Het
Exo1 A G 1: 175,893,743 Y316C possibly damaging Het
Fam114a1 G A 5: 65,030,122 V408M probably benign Het
Hmcn2 A T 2: 31,457,173 S4792C possibly damaging Het
Hps5 A G 7: 46,783,516 F260S probably damaging Het
Hrh4 T C 18: 13,022,420 S339P probably benign Het
Ist1 A T 8: 109,678,952 L152Q probably damaging Het
Marco A G 1: 120,490,954 V190A probably benign Het
Mdn1 T C 4: 32,709,364 V1711A probably benign Het
Mmp9 A G 2: 164,949,724 Y179C probably damaging Het
Mrgprb5 A G 7: 48,168,994 probably benign Het
Mrgprx1 G T 7: 48,021,623 C125* probably null Het
Msh6 A G 17: 87,990,806 probably benign Het
Myot C A 18: 44,355,110 R441S probably benign Het
Olfr740 A G 14: 50,453,942 R297G possibly damaging Het
Paf1 A G 7: 28,398,690 probably benign Het
Pde11a A G 2: 75,991,262 L891P probably damaging Het
Prkar2a T A 9: 108,719,261 I135N probably damaging Het
Rap1gap C T 4: 137,727,044 T646M probably damaging Het
Rgs7bp T C 13: 104,951,579 D229G possibly damaging Het
Rhobtb3 C T 13: 75,877,428 S523N probably damaging Het
Setd7 A T 3: 51,521,405 Y335N probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Socs4 T C 14: 47,290,807 Y400H probably damaging Het
Spag16 A T 1: 69,870,320 H192L probably damaging Het
Ssh1 A T 5: 113,946,480 C566* probably null Het
Stap1 T G 5: 86,086,693 I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 H238Y probably damaging Het
Tifab T C 13: 56,176,462 Y56C probably benign Het
Tssk2 A G 16: 17,899,789 E352G probably benign Het
Vmn2r57 A T 7: 41,400,450 V625D probably benign Het
Wbp1l T C 19: 46,644,437 Y75H probably benign Het
Wnt5a T C 14: 28,506,120 probably benign Het
Other mutations in 4921509C19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:4921509C19Rik APN 2 151473533 missense possibly damaging 0.46
IGL02432:4921509C19Rik APN 2 151472561 missense probably benign 0.18
IGL03025:4921509C19Rik APN 2 151473485 missense possibly damaging 0.82
R0321:4921509C19Rik UTSW 2 151472700 missense probably benign 0.01
R0961:4921509C19Rik UTSW 2 151472766 missense probably benign 0.01
R1272:4921509C19Rik UTSW 2 151472057 missense probably damaging 0.98
R1455:4921509C19Rik UTSW 2 151472904 missense possibly damaging 0.46
R3177:4921509C19Rik UTSW 2 151472100 missense possibly damaging 0.65
R3277:4921509C19Rik UTSW 2 151472100 missense possibly damaging 0.65
R4206:4921509C19Rik UTSW 2 151473515 missense probably benign 0.44
R4655:4921509C19Rik UTSW 2 151472858 missense probably benign 0.03
R4680:4921509C19Rik UTSW 2 151473470 missense probably damaging 1.00
R4684:4921509C19Rik UTSW 2 151471871 missense unknown
R4702:4921509C19Rik UTSW 2 151472589 missense probably benign 0.00
R4867:4921509C19Rik UTSW 2 151472822 nonsense probably null
R4962:4921509C19Rik UTSW 2 151472808 missense possibly damaging 0.78
R5117:4921509C19Rik UTSW 2 151472540 missense probably benign 0.00
R5484:4921509C19Rik UTSW 2 151471931 missense probably benign
R5602:4921509C19Rik UTSW 2 151473539 missense possibly damaging 0.83
R6374:4921509C19Rik UTSW 2 151472880 missense possibly damaging 0.47
R6894:4921509C19Rik UTSW 2 151473307 missense probably damaging 1.00
R7079:4921509C19Rik UTSW 2 151473278 missense probably damaging 1.00
R7109:4921509C19Rik UTSW 2 151473753 missense probably damaging 1.00
R7155:4921509C19Rik UTSW 2 151473569 missense possibly damaging 0.69
R7441:4921509C19Rik UTSW 2 151472925 missense possibly damaging 0.51
R7845:4921509C19Rik UTSW 2 151472309 missense probably damaging 0.96
R7853:4921509C19Rik UTSW 2 151473680 missense probably damaging 1.00
Posted On2015-04-16