Incidental Mutation 'R1950:Ankfy1'
| ID |
217222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1950 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72651155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1035
(Y1035C)
|
| 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: ENSMUST00000132889
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147195
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155998
AA Change: Y1035C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: Y1035C
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,010,677 (GRCm39) |
N478S |
probably damaging |
Het |
| Als2 |
T |
A |
1: 59,224,760 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,616,608 (GRCm39) |
T2394A |
probably damaging |
Het |
| Axin1 |
G |
C |
17: 26,412,938 (GRCm39) |
G780R |
possibly damaging |
Het |
| Carm1 |
A |
T |
9: 21,485,812 (GRCm39) |
T127S |
probably benign |
Het |
| Ccdc73 |
T |
C |
2: 104,757,280 (GRCm39) |
I81T |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,237,965 (GRCm39) |
Y67H |
probably damaging |
Het |
| Cfap65 |
C |
A |
1: 74,946,819 (GRCm39) |
G1297V |
probably damaging |
Het |
| Cfap74 |
T |
C |
4: 155,511,887 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
G |
1: 134,078,968 (GRCm39) |
Y426C |
probably damaging |
Het |
| Clpp |
A |
G |
17: 57,303,039 (GRCm39) |
|
probably benign |
Het |
| Clrn3 |
T |
G |
7: 135,115,813 (GRCm39) |
Y179S |
possibly damaging |
Het |
| Cntn5 |
A |
C |
9: 9,781,774 (GRCm39) |
M635R |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,537,831 (GRCm39) |
S2546T |
possibly damaging |
Het |
| Ctla2b |
T |
C |
13: 61,043,863 (GRCm39) |
N102S |
possibly damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,418,674 (GRCm39) |
I154F |
probably benign |
Het |
| Dffa |
C |
A |
4: 149,188,839 (GRCm39) |
S44R |
probably benign |
Het |
| Ehbp1 |
T |
A |
11: 22,009,228 (GRCm39) |
K930M |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 27,634,857 (GRCm39) |
S473T |
probably damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,434,481 (GRCm39) |
L373H |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,890,194 (GRCm39) |
I244V |
probably damaging |
Het |
| Fgfr2 |
G |
A |
7: 129,800,211 (GRCm39) |
T245M |
probably damaging |
Het |
| Garin1b |
C |
T |
6: 29,335,815 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
T |
A |
5: 105,229,112 (GRCm39) |
M512L |
probably benign |
Het |
| Glg1 |
T |
A |
8: 111,892,271 (GRCm39) |
K251I |
possibly damaging |
Het |
| Gm10553 |
A |
G |
1: 85,078,141 (GRCm39) |
D86G |
possibly damaging |
Het |
| Gm5622 |
T |
C |
14: 51,893,229 (GRCm39) |
V52A |
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,952,716 (GRCm39) |
V239A |
probably benign |
Het |
| Gzma |
A |
G |
13: 113,230,463 (GRCm39) |
L246P |
probably damaging |
Het |
| Hibadh |
C |
A |
6: 52,533,448 (GRCm39) |
A223S |
probably benign |
Het |
| Hydin |
C |
A |
8: 111,336,619 (GRCm39) |
T5132N |
possibly damaging |
Het |
| Insrr |
A |
G |
3: 87,721,820 (GRCm39) |
N1198S |
probably damaging |
Het |
| Ivl |
T |
C |
3: 92,479,420 (GRCm39) |
E215G |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,075,701 (GRCm39) |
D2037G |
possibly damaging |
Het |
| Kcna3 |
G |
A |
3: 106,944,988 (GRCm39) |
C417Y |
probably damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,078 (GRCm39) |
N177S |
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,741,892 (GRCm39) |
S645P |
probably damaging |
Het |
| Lrrc15 |
T |
C |
16: 30,092,649 (GRCm39) |
E230G |
probably benign |
Het |
| Magel2 |
C |
A |
7: 62,028,163 (GRCm39) |
Q356K |
possibly damaging |
Het |
| Mcm6 |
A |
G |
1: 128,273,726 (GRCm39) |
V368A |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,169,830 (GRCm39) |
V50M |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,195,554 (GRCm39) |
F419I |
possibly damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or10ak16 |
G |
A |
4: 118,750,537 (GRCm39) |
V86M |
probably benign |
Het |
| Or52i2 |
A |
G |
7: 102,319,684 (GRCm39) |
M186V |
probably benign |
Het |
| Otud4 |
G |
A |
8: 80,372,961 (GRCm39) |
R93H |
probably damaging |
Het |
| Pank4 |
T |
A |
4: 155,056,977 (GRCm39) |
M390K |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,576,029 (GRCm39) |
V401A |
probably damaging |
Het |
| Prdm6 |
C |
A |
18: 53,669,796 (GRCm39) |
T138K |
possibly damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,387,337 (GRCm39) |
E1206G |
possibly damaging |
Het |
| Prr30 |
A |
T |
14: 101,435,377 (GRCm39) |
I395N |
probably benign |
Het |
| Rab27a |
G |
A |
9: 72,982,751 (GRCm39) |
G19R |
probably damaging |
Het |
| Ramacl |
A |
G |
13: 67,055,269 (GRCm39) |
|
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,881,029 (GRCm39) |
V134A |
probably damaging |
Het |
| Scly |
A |
G |
1: 91,233,116 (GRCm39) |
T76A |
probably benign |
Het |
| Scube3 |
T |
C |
17: 28,383,274 (GRCm39) |
S439P |
possibly damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,388,233 (GRCm39) |
F153S |
probably damaging |
Het |
| Slc25a30 |
T |
G |
14: 76,007,007 (GRCm39) |
K163T |
possibly damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,863,614 (GRCm39) |
D715V |
probably benign |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Smr2 |
C |
CT |
5: 88,256,685 (GRCm39) |
|
probably null |
Het |
| Sp6 |
T |
G |
11: 96,912,940 (GRCm39) |
S218A |
probably benign |
Het |
| Spata21 |
T |
C |
4: 140,838,716 (GRCm39) |
V589A |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 178,044,593 (GRCm39) |
I71V |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,999,644 (GRCm39) |
G2347C |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Thbs4 |
A |
T |
13: 92,906,079 (GRCm39) |
N387K |
probably damaging |
Het |
| Tmem184a |
T |
C |
5: 139,793,381 (GRCm39) |
D216G |
probably damaging |
Het |
| Tprg1 |
T |
A |
16: 25,136,098 (GRCm39) |
S30T |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,738,522 (GRCm39) |
W778R |
probably damaging |
Het |
| Ttpa |
T |
C |
4: 20,008,633 (GRCm39) |
L65P |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,487,382 (GRCm39) |
N3050I |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,455,053 (GRCm39) |
I30V |
probably benign |
Het |
| Zfp944 |
A |
G |
17: 22,558,681 (GRCm39) |
S189P |
probably benign |
Het |
| Zftraf1 |
A |
G |
15: 76,543,417 (GRCm39) |
|
probably null |
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 |
|
|
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'- CAGCAGCTTTTGGTTCCGTG -3'
(R):5'- AAGGTTCCAATGTGAAGGTCTAC -3'
Sequencing Primer
(F):5'- CAGCTTTTGGTTCCGTGGTAATTTTG -3'
(R):5'- CCAATGTGAAGGTCTACTTGGTTAC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation