Incidental Mutation 'R7410:Ankfy1'
ID 575019
Institutional Source Beutler Lab
Gene Symbol Ankfy1
Ensembl Gene ENSMUSG00000020790
Gene Name ankyrin repeat and FYVE domain containing 1
Synonyms Ankhzn
MMRRC Submission 045491-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7410 (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 C at 72652330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 1094 (L1094S)
Ref Sequence ENSEMBL: ENSMUSP00000118751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127610] [ENSMUST00000155998]
AlphaFold Q810B6
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 damaging
Transcript: ENSMUST00000155998
AA Change: L1094S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: L1094S

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: 99.6%
  • 20x: 98.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,512,551 (GRCm39) S3P unknown Het
Adgrv1 A T 13: 81,711,738 (GRCm39) D1079E probably benign Het
Agbl5 A T 5: 31,048,032 (GRCm39) Y102F possibly damaging Het
Ankrd42 A T 7: 92,259,762 (GRCm39) V337E possibly damaging Het
Axl A G 7: 25,458,208 (GRCm39) L849P probably benign Het
Bmpr2 T C 1: 59,907,652 (GRCm39) I915T probably benign Het
Cables1 T A 18: 12,074,282 (GRCm39) F494L probably benign Het
Cacna1e A C 1: 154,347,980 (GRCm39) V927G probably benign Het
Cavin1 A T 11: 100,849,670 (GRCm39) V320E probably damaging Het
Cemip T G 7: 83,602,042 (GRCm39) S916R probably damaging Het
Cep57 G A 9: 13,729,980 (GRCm39) probably benign Het
Ces1d T C 8: 93,919,433 (GRCm39) N120D probably damaging Het
Cfap44 A T 16: 44,288,776 (GRCm39) S1509C probably damaging Het
Chga A G 12: 102,528,866 (GRCm39) D281G probably benign Het
Clstn2 A G 9: 97,423,920 (GRCm39) F282L probably benign Het
Cnot1 A T 8: 96,459,787 (GRCm39) V1855E possibly damaging Het
Cnr1 T A 4: 33,944,119 (GRCm39) V169D probably damaging Het
Cpd T A 11: 76,673,134 (GRCm39) H1337L probably damaging Het
Crabp2 T A 3: 87,859,585 (GRCm39) D78E probably damaging Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Cyp2ab1 G A 16: 20,135,475 (GRCm39) A9V probably benign Het
Cyp3a41b T C 5: 145,514,967 (GRCm39) D86G probably damaging Het
Dner T A 1: 84,563,332 (GRCm39) D96V probably damaging Het
Duox1 C A 2: 122,176,874 (GRCm39) T1465N probably damaging Het
Ehd3 T A 17: 74,112,428 (GRCm39) V64E probably benign Het
Ehmt1 A G 2: 24,738,080 (GRCm39) V508A probably benign Het
Ephb3 G A 16: 21,040,158 (GRCm39) V761I possibly damaging Het
Fam161b T C 12: 84,404,575 (GRCm39) Q35R probably benign Het
Fam186a T A 15: 99,844,826 (GRCm39) K473* probably null Het
Fam227b A T 2: 125,960,983 (GRCm39) D215E probably damaging Het
Fkbp15 C A 4: 62,258,536 (GRCm39) D144Y probably damaging Het
Galt T C 4: 41,757,707 (GRCm39) I259T possibly damaging Het
Gbp11 G A 5: 105,491,774 (GRCm39) P8S probably damaging Het
Gfap A T 11: 102,783,963 (GRCm39) M339K probably damaging Het
Gm14443 C T 2: 175,011,069 (GRCm39) R459Q possibly damaging Het
Grip1 A G 10: 119,855,925 (GRCm39) N632S probably benign Het
H4c18 G A 13: 22,016,211 (GRCm39) R40W probably damaging Het
Hcar1 T G 5: 124,017,161 (GRCm39) I177L possibly damaging Het
Ighv1-37 A G 12: 114,860,099 (GRCm39) V37A probably damaging Het
Ilf3 T A 9: 21,311,100 (GRCm39) F657L unknown Het
Ints2 T G 11: 86,124,052 (GRCm39) T579P probably benign Het
Iqgap1 G T 7: 80,372,778 (GRCm39) Y1520* probably null Het
Kdm4a T C 4: 118,001,115 (GRCm39) H884R possibly damaging Het
Krtap19-1 A T 16: 88,666,132 (GRCm39) Y52N unknown Het
Lama5 A T 2: 179,844,183 (GRCm39) probably null Het
Lrrc72 T C 12: 36,272,803 (GRCm39) N89D probably damaging Het
Med13l A G 5: 118,698,897 (GRCm39) D16G possibly damaging Het
Mefv A G 16: 3,533,545 (GRCm39) L242P probably damaging Het
Mob3c T C 4: 115,688,784 (GRCm39) Y106H probably damaging Het
Nlrp1a A G 11: 71,014,683 (GRCm39) I189T probably damaging Het
Nudt7 T C 8: 114,860,559 (GRCm39) probably benign Het
Or13p10 T C 4: 118,523,629 (GRCm39) L305P probably benign Het
Or4f7 T A 2: 111,644,271 (GRCm39) I267L probably benign Het
Pappa A G 4: 65,253,956 (GRCm39) T1537A probably damaging Het
Pik3r4 T A 9: 105,527,790 (GRCm39) V381E probably damaging Het
Pkd1 T A 17: 24,794,855 (GRCm39) Y2181N probably damaging Het
Pmel G T 10: 128,552,353 (GRCm39) V396F probably benign Het
Prdm9 A G 17: 15,765,259 (GRCm39) I507T possibly damaging Het
Psme4 C T 11: 30,765,279 (GRCm39) Q549* probably null Het
Ptprg T A 14: 11,962,657 (GRCm38) W152R probably damaging Het
Ptprm A C 17: 67,000,561 (GRCm39) V1141G probably damaging Het
Rapgef5 G A 12: 117,685,063 (GRCm39) V505M probably damaging Het
Rnf213 T A 11: 119,325,877 (GRCm39) M1558K Het
Slc35a1 A G 4: 34,675,034 (GRCm39) V168A probably benign Het
Srebf1 T C 11: 60,096,693 (GRCm39) T347A probably benign Het
Stard9 T A 2: 120,531,978 (GRCm39) V2745D probably benign Het
Taar7e A T 10: 23,914,424 (GRCm39) T305S probably benign Het
Tie1 T C 4: 118,337,074 (GRCm39) S551G probably benign Het
Tmc5 T A 7: 118,222,820 (GRCm39) Y173* probably null Het
Tns2 T A 15: 102,018,961 (GRCm39) V384D probably damaging Het
Tubgcp4 T A 2: 121,014,890 (GRCm39) Y267N probably damaging Het
Vmn1r53 A G 6: 90,200,700 (GRCm39) V208A probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdfy4 T C 14: 32,696,191 (GRCm39) D2784G Het
Zfp712 A C 13: 67,189,400 (GRCm39) S376A probably benign Het
Znrf3 C T 11: 5,238,955 (GRCm39) C232Y unknown 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
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'- ATGCCCTGCCAGTATTCTGC -3'
(R):5'- CAGGAGGCATAGTCAGTATGAC -3'

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