Incidental Mutation 'IGL02930:Ankef1'
ID364059
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: 0.042) question?
Stock #IGL02930
Quality Score
Status
Chromosome2
Chromosomal Location136501910-136562091 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 136550325 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 478 (I478T)
Ref Sequence ENSEMBL: ENSMUSP00000135947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028726] [ENSMUST00000121717] [ENSMUST00000123214] [ENSMUST00000149712] [ENSMUST00000180246]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028726
AA Change: I478T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: I478T

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 possibly damaging
Transcript: ENSMUST00000121717
AA Change: I478T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: I478T

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 possibly damaging
Transcript: ENSMUST00000180246
AA Change: I478T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: I478T

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,226 N3433S possibly damaging Het
Actl9 T C 17: 33,434,099 S378P probably damaging Het
Aldh6a1 C A 12: 84,433,982 L426F possibly damaging Het
Cabs1 A G 5: 87,979,886 D132G probably damaging Het
Ccdc39 T C 3: 33,825,494 E475G probably damaging Het
Cmtm2b A C 8: 104,329,770 M104L probably benign Het
Cops2 T C 2: 125,832,189 probably benign Het
Dnajc4 C A 19: 6,989,433 V176F possibly damaging Het
Eepd1 A G 9: 25,483,240 N267D probably damaging Het
Elobl T G 11: 88,965,186 D17A possibly damaging Het
Erich6 G A 3: 58,622,354 probably benign Het
Flna G A X: 74,223,900 R2548C probably damaging Het
Gm6878 T G 14: 67,310,990 probably benign Het
Gpc1 G T 1: 92,857,299 E355* probably null Het
Islr C T 9: 58,158,200 probably benign Het
Mex3a A T 3: 88,536,225 I203L probably benign Het
Olfr482 A T 7: 108,095,414 I52N probably damaging Het
Olfr794 T C 10: 129,571,315 I220T probably damaging Het
Olfr938 G T 9: 39,078,012 H244Q probably damaging Het
Prokr2 T C 2: 132,373,474 S195G probably benign Het
Pyroxd1 A T 6: 142,359,052 D335V probably damaging Het
Rps6kl1 T C 12: 85,149,774 T39A probably benign Het
Rusc2 G A 4: 43,416,376 A561T probably damaging Het
Sel1l3 A C 5: 53,123,217 V937G possibly damaging Het
Sh3pxd2b A G 11: 32,417,161 T382A possibly damaging Het
Tbx21 A G 11: 97,100,039 I271T probably damaging Het
Timeless T C 10: 128,247,191 V632A probably benign Het
Tle3 A G 9: 61,394,699 N67S possibly damaging Het
Tln2 G A 9: 67,393,662 R95* probably null Het
Trim24 A G 6: 37,951,445 probably benign Het
Uggt1 A T 1: 36,157,456 D1253E probably benign Het
Vmn1r8 A G 6: 57,036,594 K210R probably benign Het
Other mutations in Ankef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Ankef1 APN 2 136552531 missense possibly damaging 0.87
IGL02194:Ankef1 APN 2 136550509 missense probably benign 0.01
IGL02318:Ankef1 APN 2 136544775 missense possibly damaging 0.48
IGL02398:Ankef1 APN 2 136555782 missense probably damaging 0.98
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
Posted On2015-12-18