Incidental Mutation 'R0062:Ankfy1'
ID |
16536 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankfy1
|
Ensembl Gene |
ENSMUSG00000020790 |
Gene Name |
ankyrin repeat and FYVE domain containing 1 |
Synonyms |
Ankhzn |
MMRRC Submission |
038354-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0062 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 72603030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 20
(Y20N)
|
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 damaging
Transcript: ENSMUST00000127610
AA Change: Y20N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118252 Gene: ENSMUSG00000020790 AA Change: Y20N
Domain | Start | End | E-Value | Type |
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: ENSMUST00000150172
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155998
AA Change: Y20N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118751 Gene: ENSMUSG00000020790 AA Change: Y20N
Domain | Start | End | E-Value | Type |
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 |
0.5744 |
Coding Region Coverage |
- 1x: 90.3%
- 3x: 88.1%
- 10x: 83.4%
- 20x: 77.5%
|
Validation Efficiency |
91% (72/79) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513I03Rik |
G |
T |
10: 120,614,511 (GRCm39) |
|
probably benign |
Het |
Abi2 |
T |
A |
1: 60,492,884 (GRCm39) |
N182K |
probably benign |
Het |
Adam25 |
A |
T |
8: 41,207,829 (GRCm39) |
H365L |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,093,150 (GRCm39) |
I977N |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,648,343 (GRCm39) |
Y161H |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,579,198 (GRCm39) |
D1480G |
probably damaging |
Het |
Chl1 |
A |
T |
6: 103,726,613 (GRCm39) |
Y1143F |
unknown |
Het |
Clk3 |
A |
G |
9: 57,659,449 (GRCm39) |
M533T |
probably damaging |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Cnbd1 |
A |
G |
4: 18,860,504 (GRCm39) |
I414T |
possibly damaging |
Het |
Commd3 |
A |
T |
2: 18,679,514 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
A |
17: 30,984,685 (GRCm39) |
F3128I |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,379,224 (GRCm39) |
|
probably null |
Het |
Dpysl3 |
C |
T |
18: 43,466,941 (GRCm39) |
|
probably null |
Het |
Ebf2 |
T |
A |
14: 67,475,989 (GRCm39) |
|
probably benign |
Het |
F830045P16Rik |
T |
C |
2: 129,305,624 (GRCm39) |
E250G |
possibly damaging |
Het |
Fmn2 |
A |
T |
1: 174,436,015 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,179,621 (GRCm39) |
I2929V |
probably benign |
Het |
Gm11232 |
T |
A |
4: 71,675,112 (GRCm39) |
Q130L |
possibly damaging |
Het |
Gna15 |
A |
G |
10: 81,348,239 (GRCm39) |
|
probably null |
Het |
Gtf3c5 |
T |
C |
2: 28,462,198 (GRCm39) |
|
probably benign |
Het |
Irs2 |
G |
A |
8: 11,055,723 (GRCm39) |
T903I |
possibly damaging |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Izumo1 |
A |
G |
7: 45,276,621 (GRCm39) |
T395A |
probably benign |
Het |
Kcnd2 |
G |
A |
6: 21,727,225 (GRCm39) |
V593M |
possibly damaging |
Het |
Kprp |
T |
C |
3: 92,731,989 (GRCm39) |
S354G |
probably damaging |
Het |
Krt72 |
T |
C |
15: 101,694,443 (GRCm39) |
K151E |
probably damaging |
Het |
Letm2 |
A |
T |
8: 26,077,464 (GRCm39) |
|
probably benign |
Het |
Lipe |
A |
G |
7: 25,097,874 (GRCm39) |
V23A |
possibly damaging |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Mthfd1 |
G |
A |
12: 76,344,363 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
C |
A |
1: 60,286,876 (GRCm39) |
N899K |
probably benign |
Het |
Odad2 |
T |
A |
18: 7,129,593 (GRCm39) |
|
probably benign |
Het |
Or10ak14 |
T |
C |
4: 118,611,100 (GRCm39) |
I212V |
probably benign |
Het |
Or4c118 |
T |
C |
2: 88,974,966 (GRCm39) |
I134V |
possibly damaging |
Het |
Pcdha1 |
T |
A |
18: 37,139,681 (GRCm39) |
W437R |
probably benign |
Het |
Pcdhga11 |
T |
G |
18: 37,941,528 (GRCm39) |
I643S |
probably benign |
Het |
Pik3r6 |
T |
A |
11: 68,419,635 (GRCm39) |
Y149N |
probably damaging |
Het |
Pja2 |
C |
A |
17: 64,615,966 (GRCm39) |
V310L |
probably damaging |
Het |
Ripor3 |
A |
G |
2: 167,826,358 (GRCm39) |
|
probably benign |
Het |
Rpa2 |
C |
A |
4: 132,505,125 (GRCm39) |
N251K |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,029,090 (GRCm39) |
|
probably null |
Het |
Ryr2 |
C |
T |
13: 11,884,002 (GRCm39) |
|
probably null |
Het |
Scara3 |
T |
C |
14: 66,168,417 (GRCm39) |
N400S |
probably damaging |
Het |
Slc8b1 |
T |
A |
5: 120,659,928 (GRCm39) |
|
probably null |
Het |
Slco1a4 |
G |
A |
6: 141,765,205 (GRCm39) |
Q346* |
probably null |
Het |
Stk32b |
A |
G |
5: 37,618,792 (GRCm39) |
S229P |
probably damaging |
Het |
Syde2 |
A |
G |
3: 145,704,508 (GRCm39) |
R487G |
probably benign |
Het |
Tbc1d2b |
T |
C |
9: 90,104,355 (GRCm39) |
|
probably benign |
Het |
Ticrr |
T |
C |
7: 79,317,654 (GRCm39) |
V396A |
probably benign |
Het |
Trrap |
T |
C |
5: 144,719,003 (GRCm39) |
|
probably benign |
Het |
Vps13a |
A |
T |
19: 16,646,054 (GRCm39) |
H1994Q |
probably damaging |
Het |
Wdr36 |
T |
G |
18: 32,997,802 (GRCm39) |
V820G |
possibly damaging |
Het |
Wdr83 |
G |
A |
8: 85,806,456 (GRCm39) |
T114I |
possibly damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,252,658 (GRCm39) |
K1324E |
probably benign |
Het |
|
Other mutations in Ankfy1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
|
Posted On |
2013-01-20 |