Incidental Mutation 'R2421:Ankfy1'
ID 249302
Institutional Source Beutler Lab
Gene Symbol Ankfy1
Ensembl Gene ENSMUSG00000020790
Gene Name ankyrin repeat and FYVE domain containing 1
Synonyms Ankhzn
MMRRC Submission 040383-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2421 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 72580832-72662972 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 72646722 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 noncoding transcript
Transcript: ENSMUST00000147195
Predicted Effect probably benign
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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 96% (81/84)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 C T 5: 100,960,040 (GRCm39) R104H possibly damaging Het
Adamts3 A G 5: 89,831,034 (GRCm39) S1007P probably damaging Het
Adcy10 T A 1: 165,386,166 (GRCm39) L1118Q probably damaging Het
Adgre4 A G 17: 56,085,872 (GRCm39) E57G probably benign Het
Alpk2 T C 18: 65,439,687 (GRCm39) S1036G probably benign Het
Ank3 T C 10: 69,818,034 (GRCm39) probably benign Het
Antxrl A G 14: 33,793,646 (GRCm39) probably benign Het
Apaf1 A T 10: 90,856,585 (GRCm39) V874D probably damaging Het
Arhgap39 T A 15: 76,609,346 (GRCm39) T1025S probably damaging Het
Arhgef12 A T 9: 42,912,302 (GRCm39) C519S probably damaging Het
Aspm G A 1: 139,416,225 (GRCm39) V1512M possibly damaging Het
Atp13a3 T C 16: 30,168,643 (GRCm39) T449A probably benign Het
Atxn2 A T 5: 121,940,142 (GRCm39) probably null Het
Birc6 T A 17: 74,967,609 (GRCm39) L301Q probably damaging Het
Camk2d A G 3: 126,574,064 (GRCm39) D157G probably damaging Het
Ccdc122 T C 14: 77,329,103 (GRCm39) probably benign Het
Ccdc137 G A 11: 120,353,090 (GRCm39) probably null Het
Ccdc18 A C 5: 108,376,454 (GRCm39) E1298D probably damaging Het
Col4a3 G A 1: 82,647,996 (GRCm39) probably benign Het
Coq10b G A 1: 55,092,136 (GRCm39) A35T probably benign Het
Cracdl C A 1: 37,652,556 (GRCm39) V1084L probably benign Het
Creb3l3 T C 10: 80,927,652 (GRCm39) I47V probably benign Het
Csgalnact1 A T 8: 68,914,160 (GRCm39) I15N probably benign Het
Dcp1b A G 6: 119,192,227 (GRCm39) Q381R probably benign Het
Dnajc21 A G 15: 10,462,021 (GRCm39) S127P probably benign Het
Dnal1 C T 12: 84,183,480 (GRCm39) Q80* probably null Het
Dtd2 A G 12: 52,046,638 (GRCm39) V67A probably benign Het
Gart A G 16: 91,439,928 (GRCm39) probably null Het
Gm17421 T A 12: 113,333,107 (GRCm39) noncoding transcript Het
Gm6327 T C 16: 12,577,958 (GRCm39) noncoding transcript Het
Gm8674 T C 13: 50,054,699 (GRCm39) noncoding transcript Het
Gpr107 G A 2: 31,075,541 (GRCm39) G351S probably damaging Het
H2-M10.5 A G 17: 37,085,891 (GRCm39) I308V probably benign Het
Krt13 A T 11: 100,010,877 (GRCm39) L159Q probably benign Het
Krt78 T C 15: 101,855,699 (GRCm39) E704G probably damaging Het
Lama1 A T 17: 68,057,548 (GRCm39) M541L probably benign Het
Lenep G A 3: 89,309,881 (GRCm39) probably null Het
Lrp1b T C 2: 40,772,145 (GRCm39) probably benign Het
Ly6g6e G A 17: 35,297,122 (GRCm39) R121Q probably benign Het
Lyn C T 4: 3,748,787 (GRCm39) A255V possibly damaging Het
Mdn1 T A 4: 32,723,621 (GRCm39) I2519K probably damaging Het
Mmaa T A 8: 80,008,061 (GRCm39) R59W probably damaging Het
Ms4a4b A G 19: 11,432,061 (GRCm39) I61V possibly damaging Het
Ndufaf1 T C 2: 119,486,218 (GRCm39) E298G probably damaging Het
Or10d5 A G 9: 39,861,824 (GRCm39) L81P possibly damaging Het
Or13a1 T A 6: 116,470,674 (GRCm39) C35S probably benign Het
Or4c114 T C 2: 88,905,336 (GRCm39) Y33C possibly damaging Het
Or5k15 T C 16: 58,710,328 (GRCm39) E85G probably benign Het
Or5k8 T C 16: 58,644,709 (GRCm39) D121G probably damaging Het
Pef1 C A 4: 130,021,110 (GRCm39) C221* probably null Het
Plekhg1 G A 10: 3,908,048 (GRCm39) M988I probably benign Het
Pnliprp1 T A 19: 58,732,517 (GRCm39) I460N probably benign Het
Ppfia4 T C 1: 134,255,138 (GRCm39) N239S probably benign Het
Ppp4r3a A G 12: 101,008,912 (GRCm39) probably benign Het
Prlr T A 15: 10,319,343 (GRCm39) W91R probably damaging Het
Psmd2 T A 16: 20,478,856 (GRCm39) probably null Het
Ptprt T A 2: 162,119,960 (GRCm39) probably benign Het
Pttg1ip2 T C 5: 5,505,912 (GRCm39) Y123C probably benign Het
Rbm12b2 T C 4: 12,095,127 (GRCm39) F662S possibly damaging Het
Rgs6 C A 12: 83,163,057 (GRCm39) T421K possibly damaging Het
Ryr2 T G 13: 11,606,123 (GRCm39) Q4486H probably damaging Het
Scn7a A T 2: 66,556,646 (GRCm39) probably benign Het
Smc1a A G X: 150,830,971 (GRCm39) probably benign Het
Synrg A G 11: 83,900,050 (GRCm39) E674G probably damaging Het
Syt9 G A 7: 107,035,988 (GRCm39) R335K probably benign Het
Taar7a T C 10: 23,868,415 (GRCm39) N322S probably damaging Het
Tfb2m C A 1: 179,361,231 (GRCm39) W252C possibly damaging Het
Tmub2 T A 11: 102,178,581 (GRCm39) D161E probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Tyw1 A T 5: 130,298,101 (GRCm39) H214L probably damaging Het
Tyw5 A G 1: 57,435,907 (GRCm39) I82T possibly damaging Het
Uba6 A G 5: 86,280,475 (GRCm39) probably null Het
Unc13c T C 9: 73,838,829 (GRCm39) Y674C probably damaging Het
Vangl2 T C 1: 171,835,526 (GRCm39) Y382C probably damaging Het
Vmn2r105 T A 17: 20,448,097 (GRCm39) R242S probably benign Het
Vmn2r12 A G 5: 109,234,398 (GRCm39) Y605H probably benign Het
Vps13a T G 19: 16,737,035 (GRCm39) I101L probably benign Het
Washc4 T A 10: 83,415,385 (GRCm39) F792I probably damaging Het
Wdhd1 G A 14: 47,496,041 (GRCm39) H608Y probably benign Het
Wdr48 T A 9: 119,731,470 (GRCm39) I56K probably damaging Het
Xpo4 T C 14: 57,866,960 (GRCm39) D194G probably benign Het
Zfp644 A G 5: 106,785,110 (GRCm39) M479T possibly damaging Het
Zfp821 T A 8: 110,436,165 (GRCm39) probably null Het
Zswim8 A G 14: 20,769,525 (GRCm39) Y1237C probably 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
R1303:Ankfy1 UTSW 11 72,640,897 (GRCm39) splice site probably null
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
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'- GCAACCAGCATAGCGTCATC -3'
(R):5'- TAATGCCAAGCCTCTTTGAGC -3'

Sequencing Primer
(F):5'- AGCATAGCGTCATCATTCAGCTG -3'
(R):5'- TCACCAAGTGGCTGTAATACAG -3'
Posted On 2014-11-12