Incidental Mutation 'IGL02194:Ankef1'
ID283997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankef1
Ensembl Gene ENSMUSG00000074771
Gene Nameankyrin repeat and EF-hand domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02194
Quality Score
Status
Chromosome2
Chromosomal Location136501910-136562091 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 136550509 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 539 (D539E)
Ref Sequence ENSEMBL: ENSMUSP00000135947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028726] [ENSMUST00000121717] [ENSMUST00000123214] [ENSMUST00000149712] [ENSMUST00000180246]
Predicted Effect probably benign
Transcript: ENSMUST00000028726
AA Change: D539E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: D539E

DomainStartEndE-ValueType
ANK 47 76 6.92e-4 SMART
ANK 80 109 5.21e1 SMART
ANK 113 144 1.96e3 SMART
ANK 148 179 1.07e2 SMART
ANK 184 213 3.85e-2 SMART
ANK 217 246 3.68e1 SMART
ANK 250 279 2.28e-4 SMART
Blast:ANK 283 312 9e-6 BLAST
low complexity region 412 428 N/A INTRINSIC
ANK 524 553 1.19e-7 SMART
ANK 557 586 4.63e-5 SMART
ANK 590 619 1.54e-1 SMART
Blast:ANK 623 652 4e-10 BLAST
low complexity region 733 744 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121717
AA Change: D539E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: D539E

DomainStartEndE-ValueType
ANK 47 76 6.92e-4 SMART
ANK 80 109 5.21e1 SMART
ANK 113 144 1.96e3 SMART
ANK 148 179 1.07e2 SMART
ANK 184 213 3.85e-2 SMART
ANK 217 246 3.68e1 SMART
ANK 250 279 2.28e-4 SMART
Blast:ANK 283 312 9e-6 BLAST
low complexity region 412 428 N/A INTRINSIC
ANK 524 553 1.19e-7 SMART
ANK 557 586 4.63e-5 SMART
ANK 590 619 1.54e-1 SMART
Blast:ANK 623 652 4e-10 BLAST
low complexity region 733 744 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123214
SMART Domains Protein: ENSMUSP00000120000
Gene: ENSMUSG00000074771

DomainStartEndE-ValueType
ANK 47 76 6.92e-4 SMART
ANK 80 109 5.21e1 SMART
ANK 113 144 1.96e3 SMART
ANK 148 179 1.07e2 SMART
ANK 184 213 3.85e-2 SMART
ANK 217 246 3.68e1 SMART
ANK 250 279 2.28e-4 SMART
Blast:ANK 283 312 4e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138967
Predicted Effect probably benign
Transcript: ENSMUST00000149712
SMART Domains Protein: ENSMUSP00000114440
Gene: ENSMUSG00000074771

DomainStartEndE-ValueType
ANK 47 76 6.92e-4 SMART
ANK 80 109 5.21e1 SMART
ANK 113 144 1.96e3 SMART
ANK 148 179 1.07e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180246
AA Change: D539E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: D539E

DomainStartEndE-ValueType
ANK 47 76 6.92e-4 SMART
ANK 80 109 5.21e1 SMART
ANK 113 144 1.96e3 SMART
ANK 148 179 1.07e2 SMART
ANK 184 213 3.85e-2 SMART
ANK 217 246 3.68e1 SMART
ANK 250 279 2.28e-4 SMART
Blast:ANK 283 312 9e-6 BLAST
low complexity region 412 428 N/A INTRINSIC
ANK 524 553 1.19e-7 SMART
ANK 557 586 4.63e-5 SMART
ANK 590 619 1.54e-1 SMART
Blast:ANK 623 652 4e-10 BLAST
low complexity region 733 744 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,591,355 Q230* probably null Het
Akap5 C T 12: 76,328,033 P80S probably damaging Het
Akap6 T A 12: 52,886,823 M366K probably benign Het
Anxa11 A G 14: 25,870,129 D39G unknown Het
Atp13a4 G T 16: 29,456,629 H346N probably damaging Het
Btnl1 A C 17: 34,379,535 T42P possibly damaging Het
Cul3 T A 1: 80,323,037 Y29F probably benign Het
Dcun1d4 A G 5: 73,481,201 probably benign Het
Det1 A T 7: 78,840,164 V371E probably benign Het
Duoxa2 C A 2: 122,301,849 A248D possibly damaging Het
E330021D16Rik T C 6: 136,401,058 Q258R probably benign Het
Ehbp1l1 A T 19: 5,718,857 I806K probably benign Het
Fam76b G T 9: 13,832,978 G124W probably damaging Het
Fhl5 T C 4: 25,211,341 E117G probably benign Het
Ighv15-2 T C 12: 114,564,721 I70V probably damaging Het
Iqca T C 1: 90,045,663 T768A probably benign Het
Itih1 A C 14: 30,930,365 D786E probably benign Het
Krt15 A G 11: 100,132,013 probably benign Het
Lgals9 T A 11: 78,966,920 probably null Het
Map3k4 G T 17: 12,263,928 P634H probably damaging Het
Map3k4 G T 17: 12,248,995 Q1051K probably benign Het
Mettl21e T C 1: 44,211,183 D21G probably benign Het
Mre11a T C 9: 14,815,209 S423P possibly damaging Het
Mzf1 T A 7: 13,043,720 T665S possibly damaging Het
Olfr1216 T C 2: 89,013,887 Y59C probably damaging Het
Olfr371 T A 8: 85,230,633 I46N possibly damaging Het
Otx2 A T 14: 48,661,393 V52D possibly damaging Het
Rnf157 C T 11: 116,347,032 probably null Het
Ssxa1 T A X: 21,121,155 I115N unknown Het
Other mutations in Ankef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Ankef1 APN 2 136552531 missense possibly damaging 0.87
IGL02318:Ankef1 APN 2 136544775 missense possibly damaging 0.48
IGL02398:Ankef1 APN 2 136555782 missense probably damaging 0.98
IGL02930:Ankef1 APN 2 136550325 missense possibly damaging 0.79
R1482:Ankef1 UTSW 2 136550158 missense possibly damaging 0.74
R1692:Ankef1 UTSW 2 136550426 missense probably benign
R2045:Ankef1 UTSW 2 136554738 missense probably benign 0.00
R2074:Ankef1 UTSW 2 136545738 missense possibly damaging 0.62
R4952:Ankef1 UTSW 2 136550529 missense probably damaging 1.00
R5057:Ankef1 UTSW 2 136550360 unclassified probably null
R5113:Ankef1 UTSW 2 136552441 missense probably benign 0.20
R5743:Ankef1 UTSW 2 136549709 splice site probably null
R6120:Ankef1 UTSW 2 136550376 missense probably benign 0.04
R6243:Ankef1 UTSW 2 136537157 missense probably damaging 0.96
R7456:Ankef1 UTSW 2 136545814 missense probably benign 0.01
R7898:Ankef1 UTSW 2 136553698 missense probably benign 0.05
R7981:Ankef1 UTSW 2 136553698 missense probably benign 0.05
Posted On2015-04-16