Incidental Mutation 'R1565:Ankfy1'
| ID |
175210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
039604-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1565 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72648144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 875
(L875H)
|
| 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 benign
Transcript: ENSMUST00000127610
|
| SMART Domains |
Protein: ENSMUSP00000118252
Gene: ENSMUSG00000020790
| 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: ENSMUST00000147195
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155998
AA Change: L875H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: L875H
| 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 |
0.9682 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
96% (82/85) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,327 (GRCm39) |
G270S |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,813,536 (GRCm39) |
T401A |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,106,676 (GRCm39) |
M148K |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,089,327 (GRCm39) |
E508G |
probably damaging |
Het |
| Cacng3 |
A |
T |
7: 122,367,624 (GRCm39) |
D168V |
probably damaging |
Het |
| Clpb |
G |
A |
7: 101,434,668 (GRCm39) |
R488Q |
probably benign |
Het |
| Cltrn |
A |
G |
X: 162,901,230 (GRCm39) |
D184G |
possibly damaging |
Het |
| Cpxm2 |
A |
T |
7: 131,663,874 (GRCm39) |
Y350N |
probably damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,812 (GRCm39) |
*406R |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,906,678 (GRCm39) |
D4236E |
probably damaging |
Het |
| Dpf3 |
T |
A |
12: 83,417,391 (GRCm39) |
Y27F |
probably damaging |
Het |
| Esp4 |
T |
C |
17: 40,913,486 (GRCm39) |
*118Q |
probably null |
Het |
| Fam222b |
T |
C |
11: 78,045,488 (GRCm39) |
S222P |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,455,170 (GRCm39) |
V1933A |
probably damaging |
Het |
| Gem |
T |
C |
4: 11,713,709 (GRCm39) |
F282L |
possibly damaging |
Het |
| Gli2 |
T |
C |
1: 118,769,660 (GRCm39) |
T631A |
possibly damaging |
Het |
| Gpld1 |
T |
A |
13: 25,140,051 (GRCm39) |
V116E |
probably damaging |
Het |
| Gpr176 |
A |
G |
2: 118,110,695 (GRCm39) |
M188T |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,078,410 (GRCm39) |
V489A |
probably damaging |
Het |
| Hpdl |
T |
C |
4: 116,678,080 (GRCm39) |
N127S |
probably damaging |
Het |
| Hsd17b8 |
C |
T |
17: 34,246,469 (GRCm39) |
V105I |
possibly damaging |
Het |
| Id4 |
G |
T |
13: 48,415,770 (GRCm39) |
V151L |
possibly damaging |
Het |
| Kcnh8 |
G |
T |
17: 53,263,909 (GRCm39) |
G802V |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,118,489 (GRCm39) |
S894I |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,926,819 (GRCm39) |
N184S |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,410,647 (GRCm39) |
S226T |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,124,957 (GRCm39) |
Q472L |
probably damaging |
Het |
| Mog |
G |
C |
17: 37,328,474 (GRCm39) |
N152K |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,822,166 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,489,945 (GRCm39) |
V953A |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,345,091 (GRCm39) |
Y509F |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,767,836 (GRCm39) |
N303S |
possibly damaging |
Het |
| Nek3 |
T |
C |
8: 22,622,217 (GRCm39) |
|
probably null |
Het |
| Nlrc4 |
A |
T |
17: 74,748,926 (GRCm39) |
D771E |
probably benign |
Het |
| Nup160 |
A |
T |
2: 90,552,405 (GRCm39) |
N1127I |
possibly damaging |
Het |
| Oas1h |
A |
T |
5: 121,000,663 (GRCm39) |
N91I |
probably damaging |
Het |
| Or13p4 |
T |
A |
4: 118,547,389 (GRCm39) |
N87Y |
probably damaging |
Het |
| Or4c120 |
A |
T |
2: 89,000,971 (GRCm39) |
V195D |
probably benign |
Het |
| Or4c121 |
G |
T |
2: 89,024,227 (GRCm39) |
S50R |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,827,329 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
G |
A |
16: 17,099,764 (GRCm39) |
C96Y |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,847,548 (GRCm39) |
F47Y |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,417,681 (GRCm39) |
G2490V |
probably damaging |
Het |
| Plekhg1 |
C |
T |
10: 3,890,526 (GRCm39) |
T394I |
probably damaging |
Het |
| Pramel22 |
G |
A |
4: 143,382,187 (GRCm39) |
Q170* |
probably null |
Het |
| Psmd1 |
T |
C |
1: 86,019,719 (GRCm39) |
|
probably benign |
Het |
| Rab3ip |
A |
T |
10: 116,775,128 (GRCm39) |
C77S |
probably benign |
Het |
| Reln |
A |
T |
5: 22,130,211 (GRCm39) |
M2700K |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,800,575 (GRCm39) |
T59A |
probably benign |
Het |
| Ric8b |
G |
T |
10: 84,815,963 (GRCm39) |
V405L |
probably benign |
Het |
| Rufy3 |
G |
T |
5: 88,788,491 (GRCm39) |
A479S |
probably damaging |
Het |
| Sardh |
A |
T |
2: 27,132,731 (GRCm39) |
Y166N |
probably damaging |
Het |
| Slamf6 |
T |
G |
1: 171,761,975 (GRCm39) |
V132G |
possibly damaging |
Het |
| Slc12a3 |
T |
G |
8: 95,072,505 (GRCm39) |
H674Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srsf9 |
A |
G |
5: 115,465,429 (GRCm39) |
N21S |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,840,102 (GRCm39) |
T391S |
probably benign |
Het |
| Sumf2 |
C |
A |
5: 129,888,755 (GRCm39) |
N230K |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,119,770 (GRCm39) |
V22A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,523,778 (GRCm39) |
S194T |
possibly damaging |
Het |
| Tnn |
T |
A |
1: 159,924,835 (GRCm39) |
Y1173F |
probably damaging |
Het |
| Top2a |
A |
G |
11: 98,891,880 (GRCm39) |
F1122L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim39 |
G |
A |
17: 36,579,746 (GRCm39) |
R70W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,624,605 (GRCm39) |
T15289I |
probably damaging |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,773 (GRCm39) |
V373E |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,657,227 (GRCm39) |
S24P |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,208,593 (GRCm39) |
G51S |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,558,420 (GRCm39) |
A579T |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,753,627 (GRCm39) |
S247P |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
| Zfp251 |
T |
A |
15: 76,737,238 (GRCm39) |
R613S |
probably damaging |
Het |
| Zfp251 |
C |
T |
15: 76,737,239 (GRCm39) |
R613K |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,756,439 (GRCm39) |
D135G |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTCTAAAGCCTGTTGGCTGCTC -3'
(R):5'- GGACTTGACACATCTGTTCCCCTG -3'
Sequencing Primer
(F):5'- ATCTCGTCTGGTCAAAGCAG -3'
(R):5'- AGCTTGAAGAACAACTTCTGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation