Incidental Mutation 'R6477:Ankfy1'
| ID |
516855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
044609-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6477 (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
| 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 |
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
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
97% (60/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,909,696 (GRCm39) |
D23G |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,924,325 (GRCm39) |
I1659T |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,409,494 (GRCm39) |
V481M |
probably benign |
Het |
| Cfap161 |
T |
A |
7: 83,443,230 (GRCm39) |
R20* |
probably null |
Het |
| Cops7a |
A |
T |
6: 124,937,139 (GRCm39) |
V184E |
probably damaging |
Het |
| Cpa3 |
T |
C |
3: 20,293,739 (GRCm39) |
E83G |
possibly damaging |
Het |
| Crls1 |
C |
T |
2: 132,703,153 (GRCm39) |
S201L |
probably benign |
Het |
| Cyp4f39 |
C |
A |
17: 32,700,791 (GRCm39) |
S153R |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,759,843 (GRCm39) |
I410N |
probably damaging |
Het |
| Dido1 |
T |
A |
2: 180,302,274 (GRCm39) |
T1877S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,673,796 (GRCm39) |
S1079G |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,327,093 (GRCm39) |
V681I |
probably benign |
Het |
| Dst |
A |
G |
1: 34,247,809 (GRCm39) |
|
probably null |
Het |
| Eya2 |
A |
G |
2: 165,605,681 (GRCm39) |
T362A |
probably benign |
Het |
| Garre1 |
A |
G |
7: 33,957,055 (GRCm39) |
|
probably null |
Het |
| Hgs |
G |
A |
11: 120,360,481 (GRCm39) |
V60M |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,571,343 (GRCm39) |
|
probably null |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Kdr |
C |
A |
5: 76,129,501 (GRCm39) |
A129S |
probably benign |
Het |
| Lhcgr |
A |
T |
17: 89,049,801 (GRCm39) |
M575K |
probably damaging |
Het |
| Lsamp |
G |
T |
16: 41,988,528 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
T |
C |
8: 75,839,230 (GRCm39) |
V161A |
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,675,115 (GRCm39) |
H249L |
probably damaging |
Het |
| Mroh5 |
A |
G |
15: 73,662,604 (GRCm39) |
S405P |
probably damaging |
Het |
| Mroh9 |
C |
A |
1: 162,903,873 (GRCm39) |
L46F |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,718,192 (GRCm39) |
H357Q |
probably damaging |
Het |
| Myrf |
G |
A |
19: 10,206,149 (GRCm39) |
P89L |
probably benign |
Het |
| Mzb1 |
C |
T |
18: 35,781,311 (GRCm39) |
|
probably null |
Het |
| Naip6 |
A |
G |
13: 100,452,516 (GRCm39) |
S182P |
probably damaging |
Het |
| Nmur2 |
A |
T |
11: 55,920,417 (GRCm39) |
F276Y |
probably damaging |
Het |
| Nudt12 |
G |
T |
17: 59,318,140 (GRCm39) |
S35Y |
probably benign |
Het |
| Or51h5 |
T |
A |
7: 102,577,585 (GRCm39) |
V250E |
probably damaging |
Het |
| Or56b1 |
T |
C |
7: 104,284,886 (GRCm39) |
S2P |
probably benign |
Het |
| Or9m1 |
A |
G |
2: 87,733,334 (GRCm39) |
S229P |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,889,318 (GRCm39) |
I541V |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,884,694 (GRCm39) |
K1258E |
probably benign |
Het |
| Plcxd2 |
C |
G |
16: 45,801,022 (GRCm39) |
K67N |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,586,627 (GRCm39) |
T930A |
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,138,728 (GRCm39) |
|
probably null |
Het |
| Ppp1r14bl |
A |
T |
1: 23,140,861 (GRCm39) |
L151Q |
probably benign |
Het |
| Pramel6 |
A |
G |
2: 87,340,946 (GRCm39) |
Y426C |
possibly damaging |
Het |
| Prss27 |
A |
G |
17: 24,263,235 (GRCm39) |
T83A |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,466,383 (GRCm39) |
V915E |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,345,408 (GRCm39) |
D10E |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 125,890,350 (GRCm39) |
E121G |
probably damaging |
Het |
| Senp6 |
A |
T |
9: 80,000,907 (GRCm39) |
R39* |
probably null |
Het |
| Sergef |
A |
T |
7: 46,283,250 (GRCm39) |
I94N |
probably benign |
Het |
| Slc30a9 |
C |
T |
5: 67,485,867 (GRCm39) |
R183W |
probably benign |
Het |
| Smurf1 |
C |
T |
5: 144,826,602 (GRCm39) |
R414H |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,653,166 (GRCm39) |
W1566R |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,901,334 (GRCm39) |
|
probably null |
Het |
| Tnni1 |
T |
C |
1: 135,733,304 (GRCm39) |
V42A |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,938,513 (GRCm39) |
Y3098C |
probably damaging |
Het |
| Ubald2 |
T |
C |
11: 116,325,400 (GRCm39) |
F46L |
probably benign |
Het |
| Ubqln5 |
G |
A |
7: 103,777,465 (GRCm39) |
S453F |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,809,773 (GRCm39) |
R1248* |
probably null |
Het |
| Utp20 |
A |
G |
10: 88,604,780 (GRCm39) |
V1705A |
probably benign |
Het |
| Zfp60 |
G |
A |
7: 27,449,228 (GRCm39) |
R632H |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,942,560 (GRCm39) |
Y957C |
probably damaging |
Het |
| Zfp825 |
A |
T |
13: 74,629,029 (GRCm39) |
S162R |
possibly damaging |
Het |
| Zfp831 |
A |
C |
2: 174,545,960 (GRCm39) |
K1355T |
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 |
|
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 |
|
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'- CAGACTTGTGTGAGCTCTCTG -3'
(R):5'- GTCTACTGATGGTGCAGAGAG -3'
Sequencing Primer
(F):5'- GTGTGAGCTCTCTGGCCTC -3'
(R):5'- TGTTGATAACATTAAAGTTTGGGGAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation