Incidental Mutation 'R1303:Ankfy1'
ID 158477
Institutional Source Beutler Lab
Gene Symbol Ankfy1
Ensembl Gene ENSMUSG00000020790
Gene Name ankyrin repeat and FYVE domain containing 1
Synonyms Ankhzn
MMRRC Submission 039369-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1303 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 72580832-72662972 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 72640897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127610] [ENSMUST00000155998]
AlphaFold Q810B6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102548
Predicted Effect probably benign
Transcript: ENSMUST00000127610
SMART Domains Protein: ENSMUSP00000118252
Gene: ENSMUSG00000020790

DomainStartEndE-ValueType
Blast:UBCc 4 33 3e-8 BLAST
BTB 68 162 3.26e-20 SMART
Blast:ANK 217 247 6e-8 BLAST
ANK 255 284 5.29e0 SMART
ANK 288 317 1.04e2 SMART
ANK 322 362 4.3e0 SMART
ANK 366 395 4.73e2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000155998
SMART Domains Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790

DomainStartEndE-ValueType
coiled coil region 1 45 N/A INTRINSIC
BTB 68 162 3.26e-20 SMART
ANK 255 284 5.29e0 SMART
ANK 288 317 1.04e2 SMART
ANK 322 362 4.3e0 SMART
ANK 366 396 9.75e1 SMART
ANK 400 452 8.5e2 SMART
low complexity region 465 478 N/A INTRINSIC
ANK 490 519 4.56e-4 SMART
ANK 542 572 3.18e-3 SMART
ANK 588 617 1.72e1 SMART
ANK 621 650 5.16e-3 SMART
ANK 654 683 8.14e-1 SMART
ANK 687 716 5.37e-1 SMART
ANK 724 753 3.08e-1 SMART
ANK 769 798 2.56e-7 SMART
ANK 802 830 1.93e-2 SMART
ANK 836 865 3.47e2 SMART
ANK 870 899 9.49e-2 SMART
ANK 905 934 2.41e-3 SMART
ANK 938 967 1.34e-1 SMART
ANK 971 1001 4.43e-2 SMART
Blast:ANK 1005 1039 2e-16 BLAST
ANK 1043 1074 5.67e0 SMART
FYVE 1099 1165 3.98e-28 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial embryonic lethality with no apparent neural developmental defects on a mixed genetic background but show complete embryonic lethality on highly homogenous genetic backgrounds. [provided by MGI curators]
Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Fubp3 T A 2: 31,490,532 (GRCm39) L212H probably damaging Het
Hecw2 G T 1: 54,079,552 (GRCm39) Q34K probably benign Het
Ifnlr1 T C 4: 135,431,528 (GRCm39) I239T possibly damaging Het
Kcnh1 T C 1: 191,959,010 (GRCm39) L188P probably damaging Het
Nbl1 A G 4: 138,812,778 (GRCm39) S52P probably benign Het
Or51a24 T C 7: 103,733,948 (GRCm39) E113G probably damaging Het
Psd4 T C 2: 24,285,030 (GRCm39) V298A probably benign Het
Spata31h1 T C 10: 82,120,390 (GRCm39) T237A possibly damaging Het
Trim46 T A 3: 89,149,515 (GRCm39) T290S probably benign Het
Trpc2 T C 7: 101,737,368 (GRCm39) S387P probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Other mutations in Ankfy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00775:Ankfy1 APN 11 72,619,598 (GRCm39) missense probably benign 0.03
IGL00837:Ankfy1 APN 11 72,646,724 (GRCm39) splice site probably benign
IGL01061:Ankfy1 APN 11 72,619,686 (GRCm39) nonsense probably null
IGL01305:Ankfy1 APN 11 72,655,617 (GRCm39) missense probably damaging 1.00
IGL01599:Ankfy1 APN 11 72,629,191 (GRCm39) missense probably benign
IGL01918:Ankfy1 APN 11 72,631,281 (GRCm39) missense probably benign 0.09
IGL03007:Ankfy1 APN 11 72,641,347 (GRCm39) missense probably damaging 0.98
IGL03134:Ankfy1 APN 11 72,603,011 (GRCm39) missense probably damaging 1.00
IGL03182:Ankfy1 APN 11 72,619,580 (GRCm39) splice site probably benign
Betruenken UTSW 11 72,644,434 (GRCm39) missense possibly damaging 0.78
Inebriated UTSW 11 72,642,931 (GRCm39) missense probably benign
Smashed UTSW 11 72,603,030 (GRCm39) missense probably damaging 1.00
woozy UTSW 11 72,645,285 (GRCm39) missense probably benign 0.33
ANU22:Ankfy1 UTSW 11 72,655,617 (GRCm39) missense probably damaging 1.00
I2289:Ankfy1 UTSW 11 72,621,311 (GRCm39) missense probably benign 0.01
R0062:Ankfy1 UTSW 11 72,603,030 (GRCm39) missense probably damaging 1.00
R0062:Ankfy1 UTSW 11 72,603,030 (GRCm39) missense probably damaging 1.00
R0569:Ankfy1 UTSW 11 72,644,434 (GRCm39) missense possibly damaging 0.78
R0787:Ankfy1 UTSW 11 72,651,122 (GRCm39) missense probably damaging 1.00
R1522:Ankfy1 UTSW 11 72,646,693 (GRCm39) nonsense probably null
R1552:Ankfy1 UTSW 11 72,645,321 (GRCm39) critical splice donor site probably null
R1565:Ankfy1 UTSW 11 72,648,144 (GRCm39) missense probably damaging 1.00
R1899:Ankfy1 UTSW 11 72,645,233 (GRCm39) nonsense probably null
R1900:Ankfy1 UTSW 11 72,645,233 (GRCm39) nonsense probably null
R1950:Ankfy1 UTSW 11 72,651,155 (GRCm39) missense probably damaging 1.00
R2421:Ankfy1 UTSW 11 72,646,722 (GRCm39) splice site probably benign
R3429:Ankfy1 UTSW 11 72,602,980 (GRCm39) splice site probably benign
R3801:Ankfy1 UTSW 11 72,640,246 (GRCm39) missense probably benign
R4079:Ankfy1 UTSW 11 72,580,835 (GRCm39) utr 5 prime probably benign
R4119:Ankfy1 UTSW 11 72,605,310 (GRCm39) critical splice donor site probably null
R4120:Ankfy1 UTSW 11 72,605,310 (GRCm39) critical splice donor site probably null
R4165:Ankfy1 UTSW 11 72,605,310 (GRCm39) critical splice donor site probably null
R4233:Ankfy1 UTSW 11 72,605,310 (GRCm39) critical splice donor site probably null
R4234:Ankfy1 UTSW 11 72,605,310 (GRCm39) critical splice donor site probably null
R4236:Ankfy1 UTSW 11 72,605,310 (GRCm39) critical splice donor site probably null
R4735:Ankfy1 UTSW 11 72,621,437 (GRCm39) missense probably benign
R4765:Ankfy1 UTSW 11 72,603,117 (GRCm39) missense probably benign 0.05
R4904:Ankfy1 UTSW 11 72,642,931 (GRCm39) missense probably benign
R5057:Ankfy1 UTSW 11 72,650,745 (GRCm39) missense probably damaging 1.00
R5454:Ankfy1 UTSW 11 72,637,757 (GRCm39) missense probably benign 0.00
R5471:Ankfy1 UTSW 11 72,619,617 (GRCm39) missense probably benign 0.01
R5737:Ankfy1 UTSW 11 72,623,100 (GRCm39) missense probably damaging 0.98
R5770:Ankfy1 UTSW 11 72,651,082 (GRCm39) missense probably damaging 1.00
R5896:Ankfy1 UTSW 11 72,650,811 (GRCm39) missense probably damaging 0.98
R5930:Ankfy1 UTSW 11 72,603,071 (GRCm39) missense probably benign 0.00
R5960:Ankfy1 UTSW 11 72,648,178 (GRCm39) missense possibly damaging 0.91
R6169:Ankfy1 UTSW 11 72,645,285 (GRCm39) missense probably benign 0.33
R6176:Ankfy1 UTSW 11 72,645,285 (GRCm39) missense probably benign 0.33
R6177:Ankfy1 UTSW 11 72,645,285 (GRCm39) missense probably benign 0.33
R6178:Ankfy1 UTSW 11 72,645,285 (GRCm39) missense probably benign 0.33
R6477:Ankfy1 UTSW 11 72,621,308 (GRCm39) missense possibly damaging 0.76
R6513:Ankfy1 UTSW 11 72,621,308 (GRCm39) missense possibly damaging 0.76
R6521:Ankfy1 UTSW 11 72,621,308 (GRCm39) missense possibly damaging 0.76
R6523:Ankfy1 UTSW 11 72,621,308 (GRCm39) missense possibly damaging 0.76
R6524:Ankfy1 UTSW 11 72,621,308 (GRCm39) missense possibly damaging 0.76
R7006:Ankfy1 UTSW 11 72,631,290 (GRCm39) missense probably benign 0.01
R7329:Ankfy1 UTSW 11 72,603,034 (GRCm39) missense probably damaging 0.96
R7393:Ankfy1 UTSW 11 72,629,134 (GRCm39) missense possibly damaging 0.70
R7410:Ankfy1 UTSW 11 72,652,330 (GRCm39) missense probably damaging 1.00
R7488:Ankfy1 UTSW 11 72,650,769 (GRCm39) missense probably benign 0.05
R7731:Ankfy1 UTSW 11 72,603,107 (GRCm39) missense probably benign 0.00
R7810:Ankfy1 UTSW 11 72,645,281 (GRCm39) nonsense probably null
R8236:Ankfy1 UTSW 11 72,645,181 (GRCm39) missense possibly damaging 0.90
R8709:Ankfy1 UTSW 11 72,646,532 (GRCm39) missense possibly damaging 0.91
R8717:Ankfy1 UTSW 11 72,621,300 (GRCm39) missense probably benign 0.01
R8839:Ankfy1 UTSW 11 72,621,392 (GRCm39) missense probably benign 0.39
R8862:Ankfy1 UTSW 11 72,644,469 (GRCm39) missense probably benign 0.18
R8954:Ankfy1 UTSW 11 72,641,317 (GRCm39) missense possibly damaging 0.91
R9548:Ankfy1 UTSW 11 72,641,005 (GRCm39) critical splice donor site probably null
R9762:Ankfy1 UTSW 11 72,621,401 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCCCACAAGAAATATCTGTTGGCTCTC -3'
(R):5'- CCATGTGCAGCAATGTCTGTCCATC -3'

Sequencing Primer
(F):5'- tggctataacccccagtactc -3'
(R):5'- CGCTTTTCCAGTGAACGTAACAG -3'
Posted On 2014-02-18