Incidental Mutation 'R6177:Ankfy1'
| ID |
487835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
044319-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6177 (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 72645285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 788
(C788Y)
|
| 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 |
probably benign
Transcript: ENSMUST00000155998
AA Change: C788Y
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: C788Y
| 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 |
0.1849 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
C |
15: 91,074,896 (GRCm39) |
I306V |
probably damaging |
Het |
| Actrt3 |
A |
T |
3: 30,652,316 (GRCm39) |
Y259* |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,232,478 (GRCm39) |
M25L |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,469,987 (GRCm39) |
D63E |
possibly damaging |
Het |
| Atp6v1c1 |
C |
A |
15: 38,674,172 (GRCm39) |
S55* |
probably null |
Het |
| C1s2 |
T |
G |
6: 124,606,960 (GRCm39) |
D296A |
probably damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Cadm4 |
G |
A |
7: 24,202,186 (GRCm39) |
V342M |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,303,420 (GRCm39) |
E119G |
probably damaging |
Het |
| Cavin2 |
G |
T |
1: 51,328,654 (GRCm39) |
S37I |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,868,002 (GRCm38) |
D229G |
probably benign |
Het |
| Cdk5rap2 |
G |
A |
4: 70,199,719 (GRCm39) |
R802C |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,751,897 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,580,395 (GRCm39) |
N519S |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,831 (GRCm39) |
D260G |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,828,159 (GRCm39) |
|
probably null |
Het |
| Epb41l4a |
A |
T |
18: 33,931,868 (GRCm39) |
|
probably null |
Het |
| Esp1 |
T |
C |
17: 41,039,723 (GRCm39) |
S3P |
possibly damaging |
Het |
| Fam111a |
A |
G |
19: 12,564,746 (GRCm39) |
Y165C |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,059,031 (GRCm39) |
T497A |
probably benign |
Het |
| Gstcd |
T |
C |
3: 132,787,834 (GRCm39) |
D288G |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,310,118 (GRCm39) |
L3264* |
probably null |
Het |
| Hyal4 |
T |
A |
6: 24,766,089 (GRCm39) |
L481* |
probably null |
Het |
| Ighv2-7 |
A |
G |
12: 113,771,055 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Jdp2 |
G |
T |
12: 85,685,614 (GRCm39) |
R125L |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,013,748 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
AC |
A |
2: 69,340,763 (GRCm39) |
|
probably null |
Het |
| Marveld2 |
C |
T |
13: 100,733,886 (GRCm39) |
D250N |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,242,662 (GRCm39) |
S53P |
probably damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,083,114 (GRCm39) |
I102T |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 70,143,707 (GRCm39) |
V1041A |
probably benign |
Het |
| Nkpd1 |
T |
A |
7: 19,257,009 (GRCm39) |
F113I |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,923,490 (GRCm39) |
S6470P |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,420,661 (GRCm39) |
D266G |
possibly damaging |
Het |
| Or9g4b |
C |
T |
2: 85,616,004 (GRCm39) |
R50C |
probably damaging |
Het |
| Pdcd11 |
G |
T |
19: 47,108,722 (GRCm39) |
G1246V |
probably damaging |
Het |
| Phc3 |
A |
T |
3: 30,996,714 (GRCm39) |
S219T |
probably damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,931,993 (GRCm39) |
|
probably null |
Het |
| Polh |
T |
C |
17: 46,495,670 (GRCm39) |
D276G |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,892,071 (GRCm39) |
V1991E |
probably damaging |
Het |
| Polr2g |
G |
A |
19: 8,771,541 (GRCm39) |
R144C |
probably damaging |
Het |
| Pramel16 |
G |
A |
4: 143,675,576 (GRCm39) |
H417Y |
possibly damaging |
Het |
| Prex2 |
A |
C |
1: 11,207,001 (GRCm39) |
T520P |
possibly damaging |
Het |
| Psg21 |
T |
A |
7: 18,386,279 (GRCm39) |
T236S |
possibly damaging |
Het |
| Ptpru |
A |
T |
4: 131,520,836 (GRCm39) |
S761R |
probably benign |
Het |
| Rapgef6 |
G |
A |
11: 54,510,842 (GRCm39) |
R253Q |
probably damaging |
Het |
| Rc3h2 |
C |
T |
2: 37,279,658 (GRCm39) |
V524I |
probably benign |
Het |
| Sde2 |
T |
C |
1: 180,685,784 (GRCm39) |
V112A |
probably damaging |
Het |
| Septin7 |
T |
C |
9: 25,205,100 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
G |
15: 9,727,618 (GRCm39) |
V155A |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,819,333 (GRCm39) |
|
probably null |
Het |
| Tmcc3 |
A |
T |
10: 94,418,249 (GRCm39) |
Y339F |
probably damaging |
Het |
| Tmed6 |
T |
C |
8: 107,792,083 (GRCm39) |
E54G |
probably damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,624 (GRCm39) |
|
probably benign |
Het |
| Trim43c |
T |
C |
9: 88,722,600 (GRCm39) |
L82P |
possibly damaging |
Het |
| Txndc2 |
T |
C |
17: 65,945,466 (GRCm39) |
D237G |
probably benign |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,404 (GRCm39) |
C108S |
possibly damaging |
Het |
| Vtn |
A |
T |
11: 78,390,836 (GRCm39) |
D165V |
probably damaging |
Het |
| Wdr3 |
A |
T |
3: 100,068,468 (GRCm39) |
S13R |
probably damaging |
Het |
| Zdhhc16 |
A |
G |
19: 41,926,198 (GRCm39) |
Y31C |
probably benign |
Het |
| Zfp39 |
A |
T |
11: 58,781,887 (GRCm39) |
W292R |
probably benign |
Het |
| Zfp612 |
A |
T |
8: 110,816,606 (GRCm39) |
L604F |
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 |
|
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'- TGAAGCTGTGGTTCTCTAGC -3'
(R):5'- CCTTTATGCTAAAGAACAAGGCAC -3'
Sequencing Primer
(F):5'- GACGTGAATAGTCCCAGA -3'
(R):5'- TTACCAGACAGGCTATATGACTAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation