Incidental Mutation 'IGL02205:Gm5414'
ID284427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5414
Ensembl Gene ENSMUSG00000064232
Gene Namepredicted gene 5414
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #IGL02205
Quality Score
Status
Chromosome15
Chromosomal Location101624028-101628188 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101625869 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 267 (F267L)
Ref Sequence ENSEMBL: ENSMUSP00000059101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062879]
Predicted Effect probably benign
Transcript: ENSMUST00000062879
AA Change: F267L

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000059101
Gene: ENSMUSG00000064232
AA Change: F267L

DomainStartEndE-ValueType
Pfam:Keratin_2_head 15 148 3.3e-29 PFAM
Filament 151 464 1.4e-143 SMART
low complexity region 489 507 N/A INTRINSIC
low complexity region 511 549 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T G 11: 117,835,156 L150R probably damaging Het
Ankrd27 T G 7: 35,616,939 D543E probably damaging Het
Anks1b T G 10: 90,071,094 L258V probably benign Het
Cacna1i T C 15: 80,372,951 F1087S probably benign Het
Chd2 A T 7: 73,441,717 I1592K probably benign Het
Cmip G A 8: 117,454,975 V674I probably damaging Het
Col4a2 C T 8: 11,431,305 Q826* probably null Het
Ctdsp1 C T 1: 74,393,834 A92V possibly damaging Het
Dnajc10 T A 2: 80,349,358 S745R possibly damaging Het
Dpp4 T C 2: 62,352,257 Y560C probably damaging Het
Fbxl6 A G 15: 76,537,341 M232T probably benign Het
Heatr5a A G 12: 51,877,337 I2031T probably damaging Het
Hmcn2 T G 2: 31,400,127 V2324G probably damaging Het
Hnmt A T 2: 24,019,145 N85K probably damaging Het
Kcng4 G T 8: 119,626,083 R363S probably damaging Het
Kif18a T C 2: 109,307,018 probably benign Het
Lrrc8b A T 5: 105,481,837 Y683F probably benign Het
Mepce G T 5: 137,784,495 T523K probably benign Het
Mroh1 T C 15: 76,437,239 V1040A possibly damaging Het
Myof A G 19: 37,924,635 Y1470H probably damaging Het
Olfr469 A G 7: 107,822,591 Y293H probably damaging Het
Otol1 T C 3: 70,018,596 S35P probably benign Het
P4htm T C 9: 108,581,962 D257G probably benign Het
Pcdhb15 A G 18: 37,473,957 T81A probably damaging Het
Polg2 T C 11: 106,779,120 E108G probably benign Het
Rfx7 T A 9: 72,607,650 H143Q probably damaging Het
Sf3b2 A G 19: 5,283,737 V611A probably benign Het
Slc10a7 G T 8: 78,697,303 K203N probably benign Het
Slc12a5 T A 2: 164,996,479 V1046D probably benign Het
Tacc2 A T 7: 130,626,682 D1718V probably damaging Het
Unc79 T A 12: 103,079,001 I812N probably damaging Het
Vps13c A G 9: 67,883,454 Y338C probably damaging Het
Wdr17 T C 8: 54,696,300 Y31C probably damaging Het
Zfp654 A T 16: 64,785,966 N624K probably damaging Het
Other mutations in Gm5414
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Gm5414 APN 15 101628134 missense probably benign 0.00
IGL01774:Gm5414 APN 15 101626975 missense probably benign 0.13
IGL01939:Gm5414 APN 15 101625670 splice site probably benign
IGL02411:Gm5414 APN 15 101627834 missense probably benign 0.05
IGL02720:Gm5414 APN 15 101625555 missense probably damaging 1.00
IGL02900:Gm5414 APN 15 101627807 missense probably damaging 0.99
IGL03283:Gm5414 APN 15 101627087 missense probably damaging 1.00
PIT4480001:Gm5414 UTSW 15 101627746 missense probably damaging 1.00
PIT4504001:Gm5414 UTSW 15 101625823 missense probably damaging 0.98
R1905:Gm5414 UTSW 15 101624640 missense probably damaging 1.00
R2070:Gm5414 UTSW 15 101628060 missense possibly damaging 0.52
R3011:Gm5414 UTSW 15 101625612 missense probably damaging 1.00
R3033:Gm5414 UTSW 15 101624609 missense probably damaging 1.00
R4074:Gm5414 UTSW 15 101625553 missense probably benign
R4257:Gm5414 UTSW 15 101624672 missense probably damaging 1.00
R4396:Gm5414 UTSW 15 101625666 missense probably damaging 1.00
R4648:Gm5414 UTSW 15 101628108 missense possibly damaging 0.72
R4912:Gm5414 UTSW 15 101625010 missense possibly damaging 0.46
R5095:Gm5414 UTSW 15 101624038 missense probably benign 0.01
R5135:Gm5414 UTSW 15 101627768 missense probably damaging 0.97
R5177:Gm5414 UTSW 15 101625817 missense possibly damaging 0.91
R5330:Gm5414 UTSW 15 101624664 missense probably damaging 1.00
R5331:Gm5414 UTSW 15 101624664 missense probably damaging 1.00
R5432:Gm5414 UTSW 15 101624634 missense probably damaging 1.00
R5521:Gm5414 UTSW 15 101627987 missense probably benign 0.33
R5623:Gm5414 UTSW 15 101625811 missense probably damaging 1.00
R6781:Gm5414 UTSW 15 101625661 missense possibly damaging 0.91
R8298:Gm5414 UTSW 15 101624170 missense unknown
RF001:Gm5414 UTSW 15 101627953 missense probably benign
Posted On2015-04-16