Incidental Mutation 'R7456:Ankef1'
ID 578106
Institutional Source Beutler Lab
Gene Symbol Ankef1
Ensembl Gene ENSMUSG00000074771
Gene Name ankyrin repeat and EF-hand domain containing 1
Synonyms Ankrd5
MMRRC Submission 045530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7456 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 136374241-136397774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136387734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 217 (D217G)
Ref Sequence ENSEMBL: ENSMUSP00000120000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028726] [ENSMUST00000121717] [ENSMUST00000123214] [ENSMUST00000149712] [ENSMUST00000180246]
AlphaFold Q9D2J7
Predicted Effect probably benign
Transcript: ENSMUST00000028726
AA Change: D217G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: D217G

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: D217G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: D217G

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
AA Change: D217G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000120000
Gene: ENSMUSG00000074771
AA Change: D217G

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 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: D217G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: D217G

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 A G 4: 86,792,748 (GRCm39) D8G possibly damaging Het
Angpt4 T C 2: 151,780,987 (GRCm39) Y412H probably damaging Het
Ano2 A T 6: 125,940,508 (GRCm39) I544F probably benign Het
App G A 16: 84,970,448 (GRCm39) Het
Arhgef26 A G 3: 62,247,476 (GRCm39) T187A probably benign Het
Axin1 T A 17: 26,362,139 (GRCm39) V161E probably damaging Het
Bbs7 A T 3: 36,648,527 (GRCm39) V407D probably damaging Het
C1qtnf3 A T 15: 10,972,137 (GRCm39) E141V probably benign Het
C2 A G 17: 35,083,558 (GRCm39) I469T probably damaging Het
Cc2d1a A G 8: 84,866,868 (GRCm39) probably null Het
Cd226 A T 18: 89,224,747 (GRCm39) I10F probably damaging Het
Cep295nl T C 11: 118,224,376 (GRCm39) K156R possibly damaging Het
Cfap20dc A T 14: 8,442,933 (GRCm38) L612* probably null Het
Cfap44 A G 16: 44,252,305 (GRCm39) T805A probably benign Het
Chd9 G T 8: 91,659,153 (GRCm39) E38* probably null Het
Cldnd2 C T 7: 43,091,109 (GRCm39) L14F not run Het
Cyp11b2 T C 15: 74,725,379 (GRCm39) T247A probably benign Het
Dennd11 T G 6: 40,383,774 (GRCm39) M423L probably benign Het
Dsc1 T C 18: 20,219,879 (GRCm39) S764G probably benign Het
Dsg3 A T 18: 20,664,420 (GRCm39) T473S probably benign Het
Fam193a A T 5: 34,578,132 (GRCm39) I209F possibly damaging Het
Foxs1 T C 2: 152,775,045 (GRCm39) K3E probably benign Het
Gabrr3 C T 16: 59,227,853 (GRCm39) Q37* probably null Het
Gcm2 A T 13: 41,256,751 (GRCm39) W333R probably benign Het
Gcn1 C T 5: 115,743,005 (GRCm39) Q1559* probably null Het
Gfm2 A T 13: 97,282,211 (GRCm39) K69* probably null Het
Gm14295 T G 2: 176,500,943 (GRCm39) C144W possibly damaging Het
Gm32742 G A 9: 51,071,270 (GRCm39) T5I probably damaging Het
Gm5093 T C 17: 46,750,679 (GRCm39) D116G probably damaging Het
Gsn A T 2: 35,172,718 (GRCm39) K3N possibly damaging Het
H2-M2 C T 17: 37,792,552 (GRCm39) D240N possibly damaging Het
Habp2 G C 19: 56,307,957 (GRCm39) G482R probably damaging Het
Hnrnpm A T 17: 33,865,622 (GRCm39) Y680N possibly damaging Het
Hrc T A 7: 44,986,320 (GRCm39) D490E possibly damaging Het
Impg2 A G 16: 56,080,276 (GRCm39) I693M probably benign Het
Itga7 A G 10: 128,777,805 (GRCm39) Y262C probably damaging Het
Kif1c A G 11: 70,619,424 (GRCm39) T1020A probably benign Het
Kif23 T C 9: 61,844,402 (GRCm39) I139V probably benign Het
Klk1b5 A G 7: 43,500,255 (GRCm39) E281G probably benign Het
Kpna4 A G 3: 69,000,181 (GRCm39) V275A probably damaging Het
Lamb2 C A 9: 108,362,979 (GRCm39) D787E possibly damaging Het
Ldlrad3 A C 2: 101,785,270 (GRCm39) V235G probably damaging Het
Maneal A G 4: 124,750,767 (GRCm39) S330P probably damaging Het
Maz G A 7: 126,625,489 (GRCm39) Q35* probably null Het
Mthfd1l C T 10: 4,039,998 (GRCm39) T803M probably damaging Het
Muc5ac A G 7: 141,346,904 (GRCm39) Q325R probably benign Het
Myo3a C A 2: 22,412,255 (GRCm39) A758E probably benign Het
Ndufb7 A G 8: 84,293,482 (GRCm39) D12G probably benign Het
Nsun2 T A 13: 69,781,725 (GRCm39) C677S probably damaging Het
Obscn A G 11: 58,899,384 (GRCm39) F6471S probably benign Het
Or4c106 A T 2: 88,682,563 (GRCm39) I90F probably damaging Het
Or51k1 A G 7: 103,661,045 (GRCm39) V288A possibly damaging Het
Or7g32 T C 9: 19,408,844 (GRCm39) S267P probably damaging Het
Otof T C 5: 30,552,005 (GRCm39) D313G probably damaging Het
Paqr5 T C 9: 61,880,072 (GRCm39) D74G probably benign Het
Pigq A G 17: 26,153,580 (GRCm39) V365A unknown Het
Podn A T 4: 107,875,002 (GRCm39) N588K probably benign Het
Polr3b G A 10: 84,458,355 (GRCm39) G9R probably benign Het
Proser1 A G 3: 53,385,939 (GRCm39) H607R probably damaging Het
Ryr2 C T 13: 11,767,168 (GRCm39) V1241I probably benign Het
Sar1b G A 11: 51,682,181 (GRCm39) A170T probably benign Het
Slc22a17 T C 14: 55,149,716 (GRCm39) T191A probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,779 (GRCm39) unknown Het
Slco6d1 A T 1: 98,349,082 (GRCm39) D51V possibly damaging Het
Snx16 G A 3: 10,500,541 (GRCm39) R143* probably null Het
Sytl2 T A 7: 89,998,055 (GRCm39) L19Q probably damaging Het
Tmcc3 A G 10: 94,418,174 (GRCm39) E345G possibly damaging Het
Ttn C T 2: 76,555,998 (GRCm39) A30336T probably damaging Het
Vmn1r44 A G 6: 89,870,401 (GRCm39) D49G probably benign Het
Vps35l C T 7: 118,403,340 (GRCm39) P628S probably benign Het
Vps41 T A 13: 19,048,204 (GRCm39) D801E probably benign Het
Wif1 G A 10: 120,932,554 (GRCm39) E311K probably benign Het
Zfp513 G T 5: 31,357,759 (GRCm39) R207S possibly damaging Het
Zfp52 C A 17: 21,781,615 (GRCm39) H488N probably damaging Het
Zfp738 A G 13: 67,817,619 (GRCm39) Y791H probably damaging Het
Other mutations in Ankef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Ankef1 APN 2 136,394,451 (GRCm39) missense possibly damaging 0.87
IGL02194:Ankef1 APN 2 136,392,429 (GRCm39) missense probably benign 0.01
IGL02318:Ankef1 APN 2 136,386,695 (GRCm39) missense possibly damaging 0.48
IGL02398:Ankef1 APN 2 136,397,702 (GRCm39) missense probably damaging 0.98
IGL02930:Ankef1 APN 2 136,392,245 (GRCm39) missense possibly damaging 0.79
R1482:Ankef1 UTSW 2 136,392,078 (GRCm39) missense possibly damaging 0.74
R1692:Ankef1 UTSW 2 136,392,346 (GRCm39) missense probably benign
R2045:Ankef1 UTSW 2 136,396,658 (GRCm39) missense probably benign 0.00
R2074:Ankef1 UTSW 2 136,387,658 (GRCm39) missense possibly damaging 0.62
R4952:Ankef1 UTSW 2 136,392,449 (GRCm39) missense probably damaging 1.00
R5057:Ankef1 UTSW 2 136,392,280 (GRCm39) splice site probably null
R5113:Ankef1 UTSW 2 136,394,361 (GRCm39) missense probably benign 0.20
R5743:Ankef1 UTSW 2 136,391,629 (GRCm39) splice site probably null
R6120:Ankef1 UTSW 2 136,392,296 (GRCm39) missense probably benign 0.04
R6243:Ankef1 UTSW 2 136,379,077 (GRCm39) missense probably damaging 0.96
R7898:Ankef1 UTSW 2 136,395,618 (GRCm39) missense probably benign 0.05
R8421:Ankef1 UTSW 2 136,379,085 (GRCm39) missense probably damaging 1.00
R9054:Ankef1 UTSW 2 136,395,594 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTGAATTCAGCCCACATTTGTATTG -3'
(R):5'- CTGGTAAAGAGTCAGGATATGTGATC -3'

Sequencing Primer
(F):5'- CGGCTTTGATGGAATCGT -3'
(R):5'- CTGCCTTAGTTTAGCCTG -3'
Posted On 2019-10-07