Incidental Mutation 'IGL02246:Krcc1'
ID286193
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: 0.180) question?
Stock #IGL02246
Quality Score
Status
Chromosome6
Chromosomal Location71271677-71285319 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 71284421 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 146 (D146N)
Ref Sequence ENSEMBL: ENSMUSP00000145416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080949] [ENSMUST00000114188] [ENSMUST00000168700] [ENSMUST00000204436] [ENSMUST00000205123]
Predicted Effect probably benign
Transcript: ENSMUST00000080949
AA Change: D146N

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000079748
Gene: ENSMUSG00000053012
AA Change: D146N

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 benign
Transcript: ENSMUST00000168700
AA Change: D146N

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130252
Gene: ENSMUSG00000053012
AA Change: D146N

DomainStartEndE-ValueType
coiled coil region 209 238 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204436
AA Change: D146N

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145416
Gene: ENSMUSG00000053012
AA Change: D146N

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik G T 4: 123,860,862 D190Y probably damaging Het
Acat1 G A 9: 53,584,866 L324F probably benign Het
Ago2 T C 15: 73,108,418 H743R probably damaging Het
Ahnak A T 19: 9,008,268 L2305F probably damaging Het
Ankhd1 T A 18: 36,656,726 H2438Q probably damaging Het
Atm G T 9: 53,527,185 Q162K probably benign Het
Bpifa6 A T 2: 153,989,276 E254V probably damaging Het
Carns1 T A 19: 4,166,432 N584Y possibly damaging Het
Cmklr1 T C 5: 113,614,400 N180S probably benign Het
Col6a5 G A 9: 105,911,107 R1565* probably null Het
Fbxo43 T A 15: 36,162,696 I122L probably benign Het
Fibp A G 19: 5,463,236 Y193C probably damaging Het
Gm10923 A G 15: 85,116,931 probably benign Het
Il12rb2 A G 6: 67,308,956 probably null Het
Jakmip2 T C 18: 43,567,158 E445G possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Map2k5 A T 9: 63,377,129 D43E probably benign Het
Nup155 A G 15: 8,143,002 K824R probably benign Het
Olfr1394 T C 11: 49,160,094 S27P probably benign Het
Olfr577 T C 7: 102,973,744 T83A possibly damaging Het
Phkg1 G A 5: 129,864,638 R324W probably damaging Het
Plcd1 G A 9: 119,072,609 L616F probably benign Het
Rnf141 A T 7: 110,825,287 S122T probably benign Het
Tap1 G A 17: 34,193,989 V593M probably benign Het
Ticrr T C 7: 79,675,328 L534P probably damaging Het
Ubr4 G T 4: 139,459,103 E640D possibly damaging Het
Vmn1r169 A C 7: 23,577,236 I18L probably benign Het
Other mutations in Krcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01828:Krcc1 APN 6 71284367 missense probably damaging 0.97
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 On2015-04-16