Incidental Mutation 'R7329:Ankfy1'
ID |
569133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankfy1
|
Ensembl Gene |
ENSMUSG00000020790 |
Gene Name |
ankyrin repeat and FYVE domain containing 1 |
Synonyms |
Ankhzn |
MMRRC Submission |
045422-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7329 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72603034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 21
(V21A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127610]
[ENSMUST00000155998]
|
AlphaFold |
Q810B6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000127610
AA Change: V21A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118252 Gene: ENSMUSG00000020790 AA Change: V21A
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 |
probably damaging
Transcript: ENSMUST00000155998
AA Change: V21A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000118751 Gene: ENSMUSG00000020790 AA Change: V21A
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 |
0.1430 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (78/78) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actb |
T |
C |
5: 142,890,146 (GRCm39) |
N252S |
probably benign |
Het |
Adgrb1 |
C |
A |
15: 74,411,094 (GRCm39) |
T330K |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,979,156 (GRCm39) |
T147A |
probably damaging |
Het |
Arrdc4 |
T |
A |
7: 68,390,775 (GRCm39) |
N322Y |
probably damaging |
Het |
Bfsp2 |
C |
A |
9: 103,327,121 (GRCm39) |
E205D |
probably benign |
Het |
C2cd4b |
T |
A |
9: 67,667,419 (GRCm39) |
S138R |
possibly damaging |
Het |
Camkk1 |
C |
G |
11: 72,917,873 (GRCm39) |
N147K |
probably damaging |
Het |
Ckap2l |
T |
A |
2: 129,127,284 (GRCm39) |
Q298L |
possibly damaging |
Het |
Clstn2 |
G |
T |
9: 97,343,422 (GRCm39) |
A675D |
probably benign |
Het |
Cntnap2 |
G |
A |
6: 47,248,205 (GRCm39) |
V1204M |
possibly damaging |
Het |
Col4a1 |
C |
T |
8: 11,276,494 (GRCm39) |
|
probably null |
Het |
Ctrc |
T |
C |
4: 141,571,022 (GRCm39) |
T73A |
probably benign |
Het |
Cubn |
A |
G |
2: 13,473,582 (GRCm39) |
F454L |
probably damaging |
Het |
Cuedc1 |
A |
T |
11: 88,060,692 (GRCm39) |
S12C |
unknown |
Het |
Cyb561a3 |
G |
T |
19: 10,565,268 (GRCm39) |
G211C |
probably damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,773,739 (GRCm39) |
S219T |
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,759,318 (GRCm39) |
Y1783N |
probably damaging |
Het |
Dennd4c |
C |
T |
4: 86,698,111 (GRCm39) |
P200S |
possibly damaging |
Het |
Dnah6 |
G |
A |
6: 73,121,705 (GRCm39) |
Q1426* |
probably null |
Het |
Dync2h1 |
T |
G |
9: 7,011,247 (GRCm39) |
T3649P |
probably benign |
Het |
E2f8 |
T |
C |
7: 48,521,858 (GRCm39) |
S415G |
probably damaging |
Het |
Fbxo22 |
A |
G |
9: 55,122,261 (GRCm39) |
I147V |
probably benign |
Het |
Gclc |
A |
G |
9: 77,683,473 (GRCm39) |
Y110C |
probably damaging |
Het |
Gstm5 |
A |
G |
3: 107,803,647 (GRCm39) |
T27A |
possibly damaging |
Het |
Heatr4 |
A |
G |
12: 84,024,856 (GRCm39) |
S322P |
probably benign |
Het |
Htt |
T |
A |
5: 34,987,099 (GRCm39) |
I1106N |
probably benign |
Het |
Hunk |
T |
C |
16: 90,183,570 (GRCm39) |
V76A |
probably benign |
Het |
Igkv12-98 |
C |
T |
6: 68,548,087 (GRCm39) |
T72I |
possibly damaging |
Het |
Igkv9-123 |
A |
T |
6: 67,931,629 (GRCm39) |
W16R |
possibly damaging |
Het |
Ipo7 |
T |
C |
7: 109,648,224 (GRCm39) |
L674S |
possibly damaging |
Het |
Kcnh6 |
T |
C |
11: 105,908,203 (GRCm39) |
F273S |
probably benign |
Het |
Lamb3 |
C |
A |
1: 193,002,848 (GRCm39) |
Q98K |
possibly damaging |
Het |
Lingo4 |
A |
T |
3: 94,310,162 (GRCm39) |
T367S |
probably benign |
Het |
Lypd6b |
A |
T |
2: 49,832,512 (GRCm39) |
I26F |
probably benign |
Het |
Maneal |
T |
C |
4: 124,750,512 (GRCm39) |
T415A |
probably benign |
Het |
Mapk1ip1l |
A |
G |
14: 47,547,920 (GRCm39) |
T23A |
unknown |
Het |
Mrps17 |
T |
A |
5: 129,793,705 (GRCm39) |
|
probably benign |
Het |
Mup13 |
T |
G |
4: 61,183,688 (GRCm39) |
D45A |
probably damaging |
Het |
Mycbpap |
T |
A |
11: 94,400,073 (GRCm39) |
D408V |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,701,017 (GRCm39) |
H1742R |
probably benign |
Het |
Mylk4 |
A |
G |
13: 32,900,766 (GRCm39) |
Y255H |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,256,355 (GRCm39) |
Q200R |
probably benign |
Het |
Nkain2 |
TTTACTCGTT |
TTT |
10: 32,765,892 (GRCm39) |
|
probably null |
Het |
Olfm4 |
T |
C |
14: 80,249,369 (GRCm39) |
V162A |
possibly damaging |
Het |
Or1j15 |
A |
G |
2: 36,458,708 (GRCm39) |
T33A |
probably benign |
Het |
Or51a8 |
T |
C |
7: 102,550,039 (GRCm39) |
L155P |
probably damaging |
Het |
Or5w8 |
T |
C |
2: 87,687,585 (GRCm39) |
V22A |
probably benign |
Het |
Or8c11 |
C |
A |
9: 38,289,456 (GRCm39) |
T87K |
probably benign |
Het |
Ovol3 |
T |
A |
7: 29,934,677 (GRCm39) |
R43S |
probably benign |
Het |
Pcbp1 |
A |
G |
6: 86,502,098 (GRCm39) |
V267A |
probably benign |
Het |
Phf20 |
T |
A |
2: 156,146,552 (GRCm39) |
V903E |
probably damaging |
Het |
Pi4k2b |
T |
G |
5: 52,914,211 (GRCm39) |
S316A |
probably benign |
Het |
Pira1 |
G |
A |
7: 3,742,875 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,617,743 (GRCm39) |
H947Q |
probably damaging |
Het |
Ppip5k2 |
A |
C |
1: 97,678,478 (GRCm39) |
|
probably null |
Het |
Prkca |
T |
A |
11: 107,905,103 (GRCm39) |
T212S |
possibly damaging |
Het |
Psg16 |
A |
T |
7: 16,824,611 (GRCm39) |
I41F |
possibly damaging |
Het |
Rae1 |
T |
A |
2: 172,851,238 (GRCm39) |
F204I |
probably benign |
Het |
Rasef |
T |
A |
4: 73,662,374 (GRCm39) |
N192I |
probably damaging |
Het |
Rfc1 |
T |
A |
5: 65,420,478 (GRCm39) |
R1122S |
unknown |
Het |
Rfx2 |
A |
T |
17: 57,110,681 (GRCm39) |
S102T |
probably benign |
Het |
Sez6l |
A |
G |
5: 112,588,773 (GRCm39) |
Y647H |
probably damaging |
Het |
Siglecf |
A |
G |
7: 43,001,395 (GRCm39) |
Y121C |
probably damaging |
Het |
Slc27a5 |
T |
C |
7: 12,725,089 (GRCm39) |
T453A |
possibly damaging |
Het |
Slc44a2 |
G |
A |
9: 21,254,048 (GRCm39) |
R171Q |
probably damaging |
Het |
Slc4a9 |
A |
C |
18: 36,673,874 (GRCm39) |
E889A |
possibly damaging |
Het |
Snx31 |
C |
A |
15: 36,555,621 (GRCm39) |
R13L |
probably benign |
Het |
Spag6l |
A |
T |
16: 16,584,883 (GRCm39) |
Y422N |
probably benign |
Het |
Spmip5 |
T |
C |
19: 58,777,654 (GRCm39) |
E52G |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,959,008 (GRCm39) |
T67A |
probably damaging |
Het |
Syne2 |
G |
A |
12: 76,013,758 (GRCm39) |
R2983Q |
probably benign |
Het |
Tmtc3 |
A |
G |
10: 100,283,281 (GRCm39) |
I758T |
probably benign |
Het |
Top2a |
T |
A |
11: 98,895,072 (GRCm39) |
I843L |
possibly damaging |
Het |
Tph1 |
T |
C |
7: 46,306,285 (GRCm39) |
|
probably null |
Het |
Trdmt1 |
A |
G |
2: 13,520,933 (GRCm39) |
L323P |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,285,395 (GRCm39) |
E1977V |
probably damaging |
Het |
Utp4 |
A |
G |
8: 107,640,095 (GRCm39) |
E468G |
probably benign |
Het |
Uts2r |
A |
G |
11: 121,051,558 (GRCm39) |
T141A |
possibly damaging |
Het |
Vmn1r230 |
A |
G |
17: 21,066,952 (GRCm39) |
Y47C |
probably damaging |
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 |
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 |
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'- TAGAGATTGAGCTCAAGTCCTCAG -3'
(R):5'- GGTACAGCTAGCTTCTGGTTC -3'
Sequencing Primer
(F):5'- ATTGAGCTCAAGTCCTCAGGCTTG -3'
(R):5'- TTCCGGGAGCTCACCTGTAC -3'
|
Posted On |
2019-09-13 |