Incidental Mutation 'R7731:Ankfy1'
ID 595853
Institutional Source Beutler Lab
Gene Symbol Ankfy1
Ensembl Gene ENSMUSG00000020790
Gene Name ankyrin repeat and FYVE domain containing 1
Synonyms Ankhzn
MMRRC Submission 045787-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7731 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 72580832-72662972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72603107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 45 (N45K)
Ref Sequence ENSEMBL: ENSMUSP00000118751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127610] [ENSMUST00000155998]
AlphaFold Q810B6
Predicted Effect probably benign
Transcript: ENSMUST00000127610
AA Change: N45K

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118252
Gene: ENSMUSG00000020790
AA Change: N45K

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 benign
Transcript: ENSMUST00000155998
AA Change: N45K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: N45K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,470 (GRCm39) E210G possibly damaging Het
Accsl T C 2: 93,691,363 (GRCm39) T372A probably benign Het
Adgrf5 T A 17: 43,761,451 (GRCm39) S1049T probably damaging Het
Agmo G A 12: 37,464,939 (GRCm39) R405K probably benign Het
Akap3 A G 6: 126,842,031 (GRCm39) T217A probably benign Het
Ankrd11 G A 8: 123,622,172 (GRCm39) T560I probably benign Het
Aqp1 T C 6: 55,322,804 (GRCm39) Y186H possibly damaging Het
Arhgef18 G A 8: 3,434,936 (GRCm39) V194M probably damaging Het
Arnt T C 3: 95,391,086 (GRCm39) V320A probably benign Het
B230217C12Rik T C 11: 97,732,226 (GRCm39) L2P unknown Het
Bco1 C A 8: 117,857,807 (GRCm39) S477R possibly damaging Het
Brd4 A G 17: 32,430,198 (GRCm39) S703P possibly damaging Het
Ceacam3 T A 7: 16,892,275 (GRCm39) N339K Het
Cebpb A G 2: 167,531,126 (GRCm39) D62G probably damaging Het
Clca4a T C 3: 144,658,546 (GRCm39) I890V probably benign Het
Cyp2d9 A G 15: 82,339,633 (GRCm39) probably null Het
Cyth1 T C 11: 118,059,879 (GRCm39) T374A possibly damaging Het
Dennd3 A T 15: 73,434,216 (GRCm39) H962L probably damaging Het
Dhtkd1 T G 2: 5,928,923 (GRCm39) L249F probably benign Het
Dnah7b T A 1: 46,178,905 (GRCm39) H859Q probably benign Het
E2f4 A G 8: 106,025,265 (GRCm39) D115G probably damaging Het
Eif4a3l1 A G 6: 136,305,871 (GRCm39) I111V probably benign Het
Exoc3l4 G C 12: 111,397,182 (GRCm39) D688H possibly damaging Het
Fan1 C T 7: 64,022,444 (GRCm39) V270I probably benign Het
Fat2 A T 11: 55,201,532 (GRCm39) I514N probably damaging Het
Fndc1 G A 17: 7,992,271 (GRCm39) T475I unknown Het
Fstl5 T A 3: 76,569,069 (GRCm39) I574N probably damaging Het
Fzd4 T C 7: 89,057,258 (GRCm39) V435A possibly damaging Het
Fzd6 T C 15: 38,897,327 (GRCm39) F492S probably damaging Het
Gm4924 T A 10: 82,213,361 (GRCm39) N386K unknown Het
Hbp1 A T 12: 31,983,367 (GRCm39) D362E possibly damaging Het
Hectd4 A C 5: 121,445,077 (GRCm39) M105L probably benign Het
Hivep2 C T 10: 14,025,458 (GRCm39) P2424L probably benign Het
Hspa4 A T 11: 53,157,791 (GRCm39) probably null Het
Igf2bp3 A G 6: 49,111,665 (GRCm39) V122A probably damaging Het
Ikzf2 A T 1: 69,578,302 (GRCm39) N402K possibly damaging Het
Ip6k1 T C 9: 107,921,927 (GRCm39) F207S probably damaging Het
Kbtbd8 C A 6: 95,095,559 (GRCm39) N24K probably benign Het
Krtap10-4 T G 10: 77,662,654 (GRCm39) T75P unknown Het
Macf1 C A 4: 123,338,672 (GRCm39) S4355I probably benign Het
Muc5b A T 7: 141,411,042 (GRCm39) probably null Het
Myo3a G A 2: 22,287,400 (GRCm39) V179M probably damaging Het
Nup210 G T 6: 91,048,870 (GRCm39) T462K possibly damaging Het
Or11g27 T A 14: 50,771,141 (GRCm39) S91T probably damaging Het
Or1l4 A G 2: 37,091,561 (GRCm39) M103V probably benign Het
Or51f5 A G 7: 102,424,141 (GRCm39) I137V probably benign Het
Or5j1 T C 2: 86,879,578 (GRCm39) M1V probably null Het
Or8b53 A G 9: 38,667,542 (GRCm39) Q186R possibly damaging Het
Ostn G A 16: 27,165,668 (GRCm39) R119Q probably damaging Het
Pcdhga11 A T 18: 37,889,564 (GRCm39) N191Y probably benign Het
Pcsk6 A T 7: 65,683,641 (GRCm39) Q752L probably benign Het
Pfas T C 11: 68,890,871 (GRCm39) T347A probably damaging Het
Pkd1 A T 17: 24,792,872 (GRCm39) R1520W probably damaging Het
Pphln1-ps1 C T 16: 13,495,623 (GRCm39) R241C probably damaging Het
Prpf8 T C 11: 75,399,732 (GRCm39) S2264P probably damaging Het
Ptcd1 C A 5: 145,088,174 (GRCm39) R612S probably benign Het
Ptch2 T A 4: 116,965,492 (GRCm39) F359Y probably benign Het
Ptprr A C 10: 116,073,200 (GRCm39) D474A probably damaging Het
Pum1 C A 4: 130,490,274 (GRCm39) Q846K probably benign Het
Slc22a14 C T 9: 118,999,677 (GRCm39) A505T possibly damaging Het
Smpdl3a A G 10: 57,678,650 (GRCm39) Y151C probably damaging Het
Snrnp200 A G 2: 127,071,022 (GRCm39) N1101S probably benign Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Sptlc1 A G 13: 53,487,993 (GRCm39) V450A probably benign Het
Sqle A G 15: 59,187,821 (GRCm39) Y43C probably benign Het
Srgap3 T C 6: 112,743,858 (GRCm39) H460R probably benign Het
Syt15 A T 14: 33,945,024 (GRCm39) E190D possibly damaging Het
Tbc1d10b T C 7: 126,797,993 (GRCm39) K716R probably benign Het
Tbx20 T C 9: 24,681,993 (GRCm39) I120M probably damaging Het
Tgm1 T G 14: 55,947,978 (GRCm39) I274L probably benign Het
Tmem156 C T 5: 65,232,905 (GRCm39) probably null Het
Tnk2 A G 16: 32,488,952 (GRCm39) D264G possibly damaging Het
Tsc22d4 A G 5: 137,756,956 (GRCm39) S306G possibly damaging Het
Tut1 T A 19: 8,936,626 (GRCm39) V150D probably benign Het
Uchl5 T C 1: 143,670,275 (GRCm39) F143L Het
Vmn1r23 T C 6: 57,903,319 (GRCm39) K153R probably benign Het
Zfp236 A T 18: 82,698,798 (GRCm39) D94E probably benign Het
Zfp759 T C 13: 67,287,690 (GRCm39) Y414H 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
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
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
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'- TCAGATTATGCAGAAACAGACCAG -3'
(R):5'- ACCAGGCCTAGAAGTGTAGG -3'

Sequencing Primer
(F):5'- ACCAGGGAGTGCTGAGTGTG -3'
(R):5'- CTGTCTACCTGAGAGGCTTGAAC -3'
Posted On 2019-11-12