Incidental Mutation 'R2421:Ankfy1'
ID |
249302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankfy1
|
Ensembl Gene |
ENSMUSG00000020790 |
Gene Name |
ankyrin repeat and FYVE domain containing 1 |
Synonyms |
Ankhzn |
MMRRC Submission |
040383-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2421 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 72646722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000155998
|
SMART Domains |
Protein: ENSMUSP00000118751 Gene: ENSMUSG00000020790
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
96% (81/84) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas1 |
C |
T |
5: 100,960,040 (GRCm39) |
R104H |
possibly damaging |
Het |
Adamts3 |
A |
G |
5: 89,831,034 (GRCm39) |
S1007P |
probably damaging |
Het |
Adcy10 |
T |
A |
1: 165,386,166 (GRCm39) |
L1118Q |
probably damaging |
Het |
Adgre4 |
A |
G |
17: 56,085,872 (GRCm39) |
E57G |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,439,687 (GRCm39) |
S1036G |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,818,034 (GRCm39) |
|
probably benign |
Het |
Antxrl |
A |
G |
14: 33,793,646 (GRCm39) |
|
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,856,585 (GRCm39) |
V874D |
probably damaging |
Het |
Arhgap39 |
T |
A |
15: 76,609,346 (GRCm39) |
T1025S |
probably damaging |
Het |
Arhgef12 |
A |
T |
9: 42,912,302 (GRCm39) |
C519S |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,416,225 (GRCm39) |
V1512M |
possibly damaging |
Het |
Atp13a3 |
T |
C |
16: 30,168,643 (GRCm39) |
T449A |
probably benign |
Het |
Atxn2 |
A |
T |
5: 121,940,142 (GRCm39) |
|
probably null |
Het |
Birc6 |
T |
A |
17: 74,967,609 (GRCm39) |
L301Q |
probably damaging |
Het |
Camk2d |
A |
G |
3: 126,574,064 (GRCm39) |
D157G |
probably damaging |
Het |
Ccdc122 |
T |
C |
14: 77,329,103 (GRCm39) |
|
probably benign |
Het |
Ccdc137 |
G |
A |
11: 120,353,090 (GRCm39) |
|
probably null |
Het |
Ccdc18 |
A |
C |
5: 108,376,454 (GRCm39) |
E1298D |
probably damaging |
Het |
Col4a3 |
G |
A |
1: 82,647,996 (GRCm39) |
|
probably benign |
Het |
Coq10b |
G |
A |
1: 55,092,136 (GRCm39) |
A35T |
probably benign |
Het |
Cracdl |
C |
A |
1: 37,652,556 (GRCm39) |
V1084L |
probably benign |
Het |
Creb3l3 |
T |
C |
10: 80,927,652 (GRCm39) |
I47V |
probably benign |
Het |
Csgalnact1 |
A |
T |
8: 68,914,160 (GRCm39) |
I15N |
probably benign |
Het |
Dcp1b |
A |
G |
6: 119,192,227 (GRCm39) |
Q381R |
probably benign |
Het |
Dnajc21 |
A |
G |
15: 10,462,021 (GRCm39) |
S127P |
probably benign |
Het |
Dnal1 |
C |
T |
12: 84,183,480 (GRCm39) |
Q80* |
probably null |
Het |
Dtd2 |
A |
G |
12: 52,046,638 (GRCm39) |
V67A |
probably benign |
Het |
Gart |
A |
G |
16: 91,439,928 (GRCm39) |
|
probably null |
Het |
Gm17421 |
T |
A |
12: 113,333,107 (GRCm39) |
|
noncoding transcript |
Het |
Gm6327 |
T |
C |
16: 12,577,958 (GRCm39) |
|
noncoding transcript |
Het |
Gm8674 |
T |
C |
13: 50,054,699 (GRCm39) |
|
noncoding transcript |
Het |
Gpr107 |
G |
A |
2: 31,075,541 (GRCm39) |
G351S |
probably damaging |
Het |
H2-M10.5 |
A |
G |
17: 37,085,891 (GRCm39) |
I308V |
probably benign |
Het |
Krt13 |
A |
T |
11: 100,010,877 (GRCm39) |
L159Q |
probably benign |
Het |
Krt78 |
T |
C |
15: 101,855,699 (GRCm39) |
E704G |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,057,548 (GRCm39) |
M541L |
probably benign |
Het |
Lenep |
G |
A |
3: 89,309,881 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
C |
2: 40,772,145 (GRCm39) |
|
probably benign |
Het |
Ly6g6e |
G |
A |
17: 35,297,122 (GRCm39) |
R121Q |
probably benign |
Het |
Lyn |
C |
T |
4: 3,748,787 (GRCm39) |
A255V |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,723,621 (GRCm39) |
I2519K |
probably damaging |
Het |
Mmaa |
T |
A |
8: 80,008,061 (GRCm39) |
R59W |
probably damaging |
Het |
Ms4a4b |
A |
G |
19: 11,432,061 (GRCm39) |
I61V |
possibly damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,486,218 (GRCm39) |
E298G |
probably damaging |
Het |
Or10d5 |
A |
G |
9: 39,861,824 (GRCm39) |
L81P |
possibly damaging |
Het |
Or13a1 |
T |
A |
6: 116,470,674 (GRCm39) |
C35S |
probably benign |
Het |
Or4c114 |
T |
C |
2: 88,905,336 (GRCm39) |
Y33C |
possibly damaging |
Het |
Or5k15 |
T |
C |
16: 58,710,328 (GRCm39) |
E85G |
probably benign |
Het |
Or5k8 |
T |
C |
16: 58,644,709 (GRCm39) |
D121G |
probably damaging |
Het |
Pef1 |
C |
A |
4: 130,021,110 (GRCm39) |
C221* |
probably null |
Het |
Plekhg1 |
G |
A |
10: 3,908,048 (GRCm39) |
M988I |
probably benign |
Het |
Pnliprp1 |
T |
A |
19: 58,732,517 (GRCm39) |
I460N |
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,255,138 (GRCm39) |
N239S |
probably benign |
Het |
Ppp4r3a |
A |
G |
12: 101,008,912 (GRCm39) |
|
probably benign |
Het |
Prlr |
T |
A |
15: 10,319,343 (GRCm39) |
W91R |
probably damaging |
Het |
Psmd2 |
T |
A |
16: 20,478,856 (GRCm39) |
|
probably null |
Het |
Ptprt |
T |
A |
2: 162,119,960 (GRCm39) |
|
probably benign |
Het |
Pttg1ip2 |
T |
C |
5: 5,505,912 (GRCm39) |
Y123C |
probably benign |
Het |
Rbm12b2 |
T |
C |
4: 12,095,127 (GRCm39) |
F662S |
possibly damaging |
Het |
Rgs6 |
C |
A |
12: 83,163,057 (GRCm39) |
T421K |
possibly damaging |
Het |
Ryr2 |
T |
G |
13: 11,606,123 (GRCm39) |
Q4486H |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,556,646 (GRCm39) |
|
probably benign |
Het |
Smc1a |
A |
G |
X: 150,830,971 (GRCm39) |
|
probably benign |
Het |
Synrg |
A |
G |
11: 83,900,050 (GRCm39) |
E674G |
probably damaging |
Het |
Syt9 |
G |
A |
7: 107,035,988 (GRCm39) |
R335K |
probably benign |
Het |
Taar7a |
T |
C |
10: 23,868,415 (GRCm39) |
N322S |
probably damaging |
Het |
Tfb2m |
C |
A |
1: 179,361,231 (GRCm39) |
W252C |
possibly damaging |
Het |
Tmub2 |
T |
A |
11: 102,178,581 (GRCm39) |
D161E |
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Tyw1 |
A |
T |
5: 130,298,101 (GRCm39) |
H214L |
probably damaging |
Het |
Tyw5 |
A |
G |
1: 57,435,907 (GRCm39) |
I82T |
possibly damaging |
Het |
Uba6 |
A |
G |
5: 86,280,475 (GRCm39) |
|
probably null |
Het |
Unc13c |
T |
C |
9: 73,838,829 (GRCm39) |
Y674C |
probably damaging |
Het |
Vangl2 |
T |
C |
1: 171,835,526 (GRCm39) |
Y382C |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,448,097 (GRCm39) |
R242S |
probably benign |
Het |
Vmn2r12 |
A |
G |
5: 109,234,398 (GRCm39) |
Y605H |
probably benign |
Het |
Vps13a |
T |
G |
19: 16,737,035 (GRCm39) |
I101L |
probably benign |
Het |
Washc4 |
T |
A |
10: 83,415,385 (GRCm39) |
F792I |
probably damaging |
Het |
Wdhd1 |
G |
A |
14: 47,496,041 (GRCm39) |
H608Y |
probably benign |
Het |
Wdr48 |
T |
A |
9: 119,731,470 (GRCm39) |
I56K |
probably damaging |
Het |
Xpo4 |
T |
C |
14: 57,866,960 (GRCm39) |
D194G |
probably benign |
Het |
Zfp644 |
A |
G |
5: 106,785,110 (GRCm39) |
M479T |
possibly damaging |
Het |
Zfp821 |
T |
A |
8: 110,436,165 (GRCm39) |
|
probably null |
Het |
Zswim8 |
A |
G |
14: 20,769,525 (GRCm39) |
Y1237C |
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 |
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'- GCAACCAGCATAGCGTCATC -3'
(R):5'- TAATGCCAAGCCTCTTTGAGC -3'
Sequencing Primer
(F):5'- AGCATAGCGTCATCATTCAGCTG -3'
(R):5'- TCACCAAGTGGCTGTAATACAG -3'
|
Posted On |
2014-11-12 |