Incidental Mutation 'R6176:Ankfy1'
| ID |
487776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
044318-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6176 (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: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (60/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
T |
C |
4: 63,295,969 (GRCm39) |
Q966R |
probably benign |
Het |
| Amn |
A |
G |
12: 111,240,590 (GRCm39) |
D74G |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,739,120 (GRCm39) |
T2255S |
probably benign |
Het |
| Apaf1 |
A |
G |
10: 90,895,433 (GRCm39) |
|
probably null |
Het |
| Asl |
T |
A |
5: 130,047,720 (GRCm39) |
H82L |
probably benign |
Het |
| Atrn |
A |
G |
2: 130,788,011 (GRCm39) |
E271G |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,201,125 (GRCm39) |
F184S |
probably damaging |
Het |
| C1s2 |
T |
A |
6: 124,602,768 (GRCm39) |
H481L |
probably damaging |
Het |
| Cav2 |
A |
G |
6: 17,286,918 (GRCm39) |
D58G |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,866,455 (GRCm39) |
H755L |
probably benign |
Het |
| Ccdc65 |
A |
G |
15: 98,606,433 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
A |
T |
9: 108,705,554 (GRCm39) |
Y679F |
probably damaging |
Het |
| Cep135 |
A |
T |
5: 76,772,490 (GRCm39) |
Y625F |
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,478,654 (GRCm39) |
S58P |
probably damaging |
Het |
| Clip4 |
T |
A |
17: 72,113,628 (GRCm39) |
C259* |
probably null |
Het |
| Cyp2j12 |
T |
A |
4: 96,029,074 (GRCm39) |
Q69L |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,790,147 (GRCm39) |
T1484I |
probably benign |
Het |
| Ecscr |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
18: 35,849,813 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,683,383 (GRCm39) |
I1604F |
probably benign |
Het |
| Fam43b |
T |
C |
4: 138,122,522 (GRCm39) |
D266G |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,705,498 (GRCm39) |
I618F |
possibly damaging |
Het |
| Gne |
C |
T |
4: 44,053,019 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
T |
A |
8: 125,605,593 (GRCm39) |
V321E |
probably damaging |
Het |
| Gpatch8 |
G |
A |
11: 102,378,350 (GRCm39) |
A200V |
unknown |
Het |
| Grid1 |
C |
A |
14: 35,284,504 (GRCm39) |
A749E |
probably benign |
Het |
| Grip2 |
C |
T |
6: 91,756,832 (GRCm39) |
V540I |
probably benign |
Het |
| Ice2 |
C |
T |
9: 69,324,354 (GRCm39) |
T759M |
probably damaging |
Het |
| Jrk |
G |
T |
15: 74,578,189 (GRCm39) |
N365K |
possibly damaging |
Het |
| Kank4 |
A |
G |
4: 98,653,791 (GRCm39) |
I879T |
probably damaging |
Het |
| Krtap20-1 |
T |
A |
16: 88,812,288 (GRCm39) |
Y24* |
probably null |
Het |
| Lao1 |
T |
A |
4: 118,819,197 (GRCm39) |
M1K |
probably null |
Het |
| Mlf1 |
A |
G |
3: 67,291,927 (GRCm39) |
R31G |
probably damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,330,974 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
A |
G |
2: 119,460,902 (GRCm39) |
R132G |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,847 (GRCm39) |
Y282C |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5w20 |
G |
A |
2: 87,727,280 (GRCm39) |
V254I |
probably benign |
Het |
| Or8d2b |
A |
C |
9: 38,788,673 (GRCm39) |
D67A |
probably damaging |
Het |
| Paqr9 |
G |
T |
9: 95,442,828 (GRCm39) |
V273L |
possibly damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,984 (GRCm39) |
D351V |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,797,282 (GRCm39) |
D762G |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,444,615 (GRCm39) |
L1141Q |
possibly damaging |
Het |
| Pga5 |
T |
A |
19: 10,649,149 (GRCm39) |
|
probably null |
Het |
| Phldb3 |
C |
A |
7: 24,326,127 (GRCm39) |
R570S |
probably damaging |
Het |
| Slc22a6 |
A |
C |
19: 8,599,161 (GRCm39) |
E264A |
probably damaging |
Het |
| Slc49a4 |
C |
T |
16: 35,525,167 (GRCm39) |
M426I |
probably benign |
Het |
| Slit1 |
T |
C |
19: 41,626,034 (GRCm39) |
K576R |
probably damaging |
Het |
| Sox21 |
T |
C |
14: 118,473,040 (GRCm39) |
K3R |
possibly damaging |
Het |
| Stk32c |
A |
T |
7: 138,700,691 (GRCm39) |
D297E |
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,252,326 (GRCm39) |
V323A |
probably damaging |
Het |
| Tas1r2 |
T |
G |
4: 139,396,199 (GRCm39) |
C513G |
probably damaging |
Het |
| Tbc1d23 |
A |
G |
16: 56,992,152 (GRCm39) |
Y603H |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,816,192 (GRCm39) |
V642A |
probably damaging |
Het |
| Tle2 |
A |
T |
10: 81,423,168 (GRCm39) |
D486V |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,792,867 (GRCm39) |
I110T |
probably damaging |
Het |
| Tmem39b |
A |
G |
4: 129,586,894 (GRCm39) |
Y106H |
probably damaging |
Het |
| Trpm4 |
T |
G |
7: 44,976,100 (GRCm39) |
N229T |
probably damaging |
Het |
| Tspo |
A |
G |
15: 83,458,007 (GRCm39) |
T120A |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,371,851 (GRCm39) |
A767T |
probably damaging |
Het |
| Usp53 |
G |
A |
3: 122,727,652 (GRCm39) |
Q977* |
probably null |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,528 (GRCm39) |
D189E |
probably damaging |
Het |
| Vmn2r12 |
T |
C |
5: 109,233,866 (GRCm39) |
Y782C |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,349,908 (GRCm39) |
L558P |
probably damaging |
Het |
| Zfp268 |
T |
A |
4: 145,350,628 (GRCm39) |
C688* |
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 |
|
|
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 |
|
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'- TGAAGCTGTGGTTCTCTAGC -3'
(R):5'- CCTTTATGCTAAAGAACAAGGCAC -3'
Sequencing Primer
(F):5'- GACGTGAATAGTCCCAGA -3'
(R):5'- TTACCAGACAGGCTATATGACTAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation