Incidental Mutation 'R6513:Ankfy1'
ID 520019
Institutional Source Beutler Lab
Gene Symbol Ankfy1
Ensembl Gene ENSMUSG00000020790
Gene Name ankyrin repeat and FYVE domain containing 1
Synonyms Ankhzn
MMRRC Submission 044640-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6513 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 72580832-72662972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72621308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 198 (R198Q)
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 possibly damaging
Transcript: ENSMUST00000127610
AA Change: R198Q

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118252
Gene: ENSMUSG00000020790
AA Change: R198Q

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 possibly damaging
Transcript: ENSMUST00000155998
AA Change: R198Q

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: R198Q

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
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,654 (GRCm39) S161G probably benign Het
Ankrd11 A G 8: 123,616,919 (GRCm39) V2290A probably benign Het
Aox4 A G 1: 58,252,212 (GRCm39) N29S probably benign Het
Arhgap17 T C 7: 122,891,379 (GRCm39) R592G possibly damaging Het
Caap1 A T 4: 94,389,640 (GRCm39) D231E possibly damaging Het
Cabp1 T A 5: 115,307,193 (GRCm39) M165L possibly damaging Het
Calhm4 T A 10: 33,917,630 (GRCm39) R274* probably null Het
Cep72 A T 13: 74,206,582 (GRCm39) L73H probably damaging Het
Cfap74 A G 4: 155,525,743 (GRCm39) S731G probably null Het
Dsc2 T C 18: 20,179,295 (GRCm39) I258V probably benign Het
Dsg1c T G 18: 20,407,687 (GRCm39) N344K probably benign Het
Enah A G 1: 181,841,920 (GRCm39) probably benign Het
Fbn1 T A 2: 125,225,591 (GRCm39) S554C probably damaging Het
Fkrp C A 7: 16,545,037 (GRCm39) R275L possibly damaging Het
Gbp4 C T 5: 105,270,986 (GRCm39) G215D possibly damaging Het
Gli2 G A 1: 118,783,284 (GRCm39) L239F probably damaging Het
Gpr146 A G 5: 139,378,573 (GRCm39) D125G probably damaging Het
Hectd4 C A 5: 121,494,259 (GRCm39) probably null Het
Invs G A 4: 48,397,534 (GRCm39) V370I possibly damaging Het
Kdm2b A G 5: 123,018,302 (GRCm39) V1040A probably damaging Het
Kidins220 T A 12: 25,088,434 (GRCm39) V1059D possibly damaging Het
Kif26a T A 12: 112,141,926 (GRCm39) S727T probably damaging Het
Kifbp T C 10: 62,410,813 (GRCm39) probably null Het
Klk1b27 A G 7: 43,705,169 (GRCm39) H112R probably benign Het
Krt72 T G 15: 101,685,187 (GRCm39) probably null Het
Lactb C T 9: 66,878,172 (GRCm39) R219H probably damaging Het
Lrig2 A T 3: 104,373,045 (GRCm39) I612N probably damaging Het
Meaf6 A C 4: 124,983,697 (GRCm39) N51T probably damaging Het
Mtap A G 4: 89,066,498 (GRCm39) T36A possibly damaging Het
Myo3a G A 2: 22,412,143 (GRCm39) G713S probably damaging Het
Nr4a3 C T 4: 48,083,255 (GRCm39) T596I probably damaging Het
Or10ak14 A T 4: 118,611,224 (GRCm39) C172* probably null Het
Or4f14 C G 2: 111,743,228 (GRCm39) G16R possibly damaging Het
Pam A G 1: 97,765,752 (GRCm39) V759A possibly damaging Het
Pcare T A 17: 72,051,701 (GRCm39) E1217V probably damaging Het
Pds5a T A 5: 65,772,944 (GRCm39) I1220F probably benign Het
Phldb2 T A 16: 45,568,240 (GRCm39) M1222L possibly damaging Het
Phospho1 C T 11: 95,721,513 (GRCm39) A61V possibly damaging Het
Pnpla7 G A 2: 24,906,550 (GRCm39) V638I possibly damaging Het
Pramel34 C A 5: 93,785,391 (GRCm39) probably null Het
Ptf1a T A 2: 19,451,848 (GRCm39) D282E probably damaging Het
Ptgs2 A T 1: 149,975,879 (GRCm39) probably benign Het
Racgap1 T C 15: 99,522,156 (GRCm39) R471G probably damaging Het
Rptn T C 3: 93,303,419 (GRCm39) S251P possibly damaging Het
Shcbp1 T C 8: 4,794,507 (GRCm39) M429V probably benign Het
Shprh T C 10: 11,062,637 (GRCm39) L1248P probably damaging Het
Son T C 16: 91,456,835 (GRCm39) probably benign Het
Sppl3 T C 5: 115,233,995 (GRCm39) L355P probably damaging Het
Tbc1d31 A T 15: 57,818,778 (GRCm39) R794W probably damaging Het
Telo2 T C 17: 25,320,386 (GRCm39) Y766C probably damaging Het
Tfr2 A G 5: 137,572,793 (GRCm39) probably null Het
Tle4 T C 19: 14,429,056 (GRCm39) D722G probably damaging Het
Tprg1l A G 4: 154,243,862 (GRCm39) V98A probably benign Het
Trak1 C T 9: 121,272,822 (GRCm39) R237C probably benign Het
Vmn2r113 T C 17: 23,177,715 (GRCm39) I833T probably damaging Het
Vmn2r118 T A 17: 55,915,093 (GRCm39) S518C probably damaging Het
Vmn2r49 A G 7: 9,710,524 (GRCm39) I736T probably damaging Het
Wdr38 T A 2: 38,889,970 (GRCm39) probably null Het
Wee2 A G 6: 40,429,553 (GRCm39) E180G probably benign Het
Zbtb1 T C 12: 76,432,604 (GRCm39) S197P possibly damaging Het
Zc3h7a T C 16: 10,976,629 (GRCm39) probably null Het
Zfp516 T A 18: 82,973,835 (GRCm39) L11Q probably damaging Het
Zfp623 G A 15: 75,819,317 (GRCm39) R91H probably benign Het
Zkscan7 G A 9: 122,725,170 (GRCm39) R713Q probably benign 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
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'- ACTTGTGTGAGCTCTCTGGC -3'
(R):5'- GAATGTCTACTGATGGTGCAGAG -3'

Sequencing Primer
(F):5'- GTGAGCTCTCTGGCCTCTG -3'
(R):5'- TCTACTGATGGTGCAGAGAGAAGC -3'
Posted On 2018-06-06