Incidental Mutation 'IGL02398:Ankef1'
ID291778
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: 0.076) question?
Stock #IGL02398
Quality Score
Status
Chromosome2
Chromosomal Location136501910-136562091 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 136555782 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 761 (N761T)
Ref Sequence ENSEMBL: ENSMUSP00000135947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028726] [ENSMUST00000121717] [ENSMUST00000149712] [ENSMUST00000180246]
Predicted Effect probably damaging
Transcript: ENSMUST00000028726
AA Change: N761T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: N761T

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 damaging
Transcript: ENSMUST00000121717
AA Change: N761T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: N761T

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 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 damaging
Transcript: ENSMUST00000180246
AA Change: N761T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: N761T

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,402,824 C160* probably null Het
Alkbh8 C T 9: 3,345,870 P197S possibly damaging Het
Ankrd7 A G 6: 18,866,697 Y72C probably damaging Het
Cfap36 T G 11: 29,222,833 M231L probably benign Het
Cog7 A G 7: 121,964,209 C227R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspg4 A T 9: 56,886,686 E568D probably benign Het
Cwc27 G A 13: 104,804,254 T199I possibly damaging Het
Cyp26a1 A G 19: 37,700,019 I330V probably benign Het
Dcaf7 T C 11: 106,053,753 V254A probably benign Het
Dhrs7 G A 12: 72,664,692 R24C probably damaging Het
Ehmt2 T A 17: 34,908,479 C838S probably damaging Het
Fn1 A T 1: 71,618,670 probably null Het
Gjb3 T A 4: 127,326,062 S226C probably benign Het
Gm14496 A G 2: 181,996,170 I346V probably benign Het
Gm5926 A G X: 32,651,386 D224G probably damaging Het
Gm8050 T C 14: 6,717,330 E172G probably damaging Het
Higd1a G A 9: 121,852,524 R22W probably damaging Het
Hmcn1 A G 1: 150,802,897 L491S possibly damaging Het
Igsf9b T C 9: 27,333,130 S794P possibly damaging Het
Irgm2 A T 11: 58,219,929 I161F probably damaging Het
Lrp8 G T 4: 107,847,494 V304F probably damaging Het
Lrp8 C A 4: 107,869,048 S850R probably damaging Het
Lrrc9 A T 12: 72,466,903 M513L probably benign Het
Myo18b A T 5: 112,830,312 V1248E possibly damaging Het
Myo1b A T 1: 51,757,891 N945K probably damaging Het
Nipbl A G 15: 8,327,090 L1604P probably damaging Het
Oas1f A T 5: 120,851,505 Y169F probably benign Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr1054 A T 2: 86,332,524 Y277* probably null Het
Olfr444 A T 6: 42,956,112 I205F probably benign Het
Olfr584 G A 7: 103,086,106 C191Y probably damaging Het
Parp8 A G 13: 116,910,863 probably null Het
Pde4dip T C 3: 97,766,781 Y273C probably benign Het
Pgbd5 C T 8: 124,384,518 A54T probably damaging Het
Pglyrp4 G A 3: 90,739,117 probably benign Het
Piezo1 A T 8: 122,486,563 S1819R probably benign Het
Polr1a T C 6: 71,936,556 probably benign Het
Polr1b A G 2: 129,102,966 I61V probably benign Het
Prlhr G T 19: 60,467,315 A271E probably damaging Het
Rad23b C T 4: 55,350,360 probably benign Het
Rad51ap1 A T 6: 126,928,151 S132R probably damaging Het
Ros1 T A 10: 52,144,884 probably benign Het
Ryr3 T C 2: 112,847,422 D1327G probably benign Het
Slit1 A C 19: 41,602,237 V1332G probably damaging Het
Tmem178b A G 6: 40,207,527 M120V probably damaging Het
Trim25 T C 11: 88,999,804 C106R probably damaging Het
Trim35 A G 14: 66,309,248 Y488C probably damaging Het
Tsc2 A T 17: 24,621,729 H326Q probably damaging Het
Yap1 A T 9: 7,950,535 I315K probably benign Het
Zfp654 A G 16: 64,786,018 V607A 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
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
Posted On2015-04-16