Incidental Mutation 'IGL01828:Krcc1'
ID154703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krcc1
Ensembl Gene ENSMUSG00000053012
Gene Namelysine-rich coiled-coil 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL01828
Quality Score
Status
Chromosome6
Chromosomal Location71271677-71285319 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 71284367 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 128 (Y128N)
Ref Sequence ENSEMBL: ENSMUSP00000145416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080949] [ENSMUST00000114188] [ENSMUST00000168700] [ENSMUST00000204436] [ENSMUST00000205123]
Predicted Effect probably damaging
Transcript: ENSMUST00000080949
AA Change: Y128N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079748
Gene: ENSMUSG00000053012
AA Change: Y128N

DomainStartEndE-ValueType
coiled coil region 209 238 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114188
SMART Domains Protein: ENSMUSP00000109826
Gene: ENSMUSG00000055027

DomainStartEndE-ValueType
Pfam:zf-MYND 18 56 5.4e-11 PFAM
SET 76 225 1.53e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168700
AA Change: Y128N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130252
Gene: ENSMUSG00000053012
AA Change: Y128N

DomainStartEndE-ValueType
coiled coil region 209 238 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204436
AA Change: Y128N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145416
Gene: ENSMUSG00000053012
AA Change: Y128N

DomainStartEndE-ValueType
coiled coil region 209 238 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205123
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,287,695 I1151V probably benign Het
Abcc4 C T 14: 118,553,279 probably benign Het
Asxl3 T A 18: 22,525,558 probably benign Het
Car4 C A 11: 84,964,745 Q198K probably benign Het
Ces1a T C 8: 93,025,201 H435R probably damaging Het
Chdh T A 14: 30,036,608 F503L probably damaging Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dse T A 10: 34,152,776 T773S probably damaging Het
Fbxw11 T A 11: 32,720,505 L123H probably damaging Het
Gigyf2 A G 1: 87,419,098 D550G probably damaging Het
Myh8 T C 11: 67,303,826 M1621T possibly damaging Het
Notch2 T A 3: 98,072,613 C148S probably damaging Het
Plcg2 C A 8: 117,590,233 H616Q probably damaging Het
Plec T C 15: 76,183,755 E1218G probably damaging Het
Plekhm2 T C 4: 141,629,585 E749G probably benign Het
RP24-77E13.10 T C 7: 7,231,323 probably null Het
Slco1a6 C T 6: 142,096,411 V480M probably damaging Het
Vmn1r88 C T 7: 13,177,735 T6I probably damaging Het
Vmn2r14 A G 5: 109,224,577 F16L possibly damaging Het
Ywhab G A 2: 164,011,774 R57H possibly damaging Het
Other mutations in Krcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02246:Krcc1 APN 6 71284421 missense probably benign 0.31
R1187:Krcc1 UTSW 6 71284628 nonsense probably null
R4965:Krcc1 UTSW 6 71284637 missense probably damaging 0.98
R6949:Krcc1 UTSW 6 71284151 missense probably benign 0.06
R7107:Krcc1 UTSW 6 71284214 missense probably benign 0.44
Posted On2014-02-04