Incidental Mutation 'R3429:Ankfy1'
| ID |
268020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
040647-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3429 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 72602980 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: ENSMUST00000150172
|
| 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: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (65/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,613,249 (GRCm39) |
M1K |
probably null |
Het |
| Afap1l2 |
C |
A |
19: 56,904,238 (GRCm39) |
R683L |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
| Asah1 |
C |
T |
8: 41,804,925 (GRCm39) |
|
probably benign |
Het |
| B4galnt4 |
T |
C |
7: 140,650,752 (GRCm39) |
L842P |
probably damaging |
Het |
| Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
| Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
| Cdh5 |
T |
A |
8: 104,857,600 (GRCm39) |
I342N |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,512,088 (GRCm39) |
E109D |
probably benign |
Het |
| Cntrl |
T |
C |
2: 35,035,112 (GRCm39) |
L913S |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,655,166 (GRCm39) |
Y852N |
probably damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,438,573 (GRCm39) |
|
probably null |
Het |
| Cyp2c66 |
T |
A |
19: 39,151,892 (GRCm39) |
N202K |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
| Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,937,832 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
A |
3: 82,920,090 (GRCm39) |
F290I |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
| Foxl2 |
T |
C |
9: 98,838,035 (GRCm39) |
F108L |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
| Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
| Gstz1 |
T |
A |
12: 87,210,470 (GRCm39) |
|
probably null |
Het |
| Hacd1 |
T |
C |
2: 14,049,586 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,299,156 (GRCm39) |
L2834Q |
possibly damaging |
Het |
| Hs3st3a1 |
C |
T |
11: 64,327,148 (GRCm39) |
R86W |
probably benign |
Het |
| Krtap1-4 |
G |
C |
11: 99,474,020 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
A |
G |
7: 140,793,910 (GRCm39) |
V21A |
probably benign |
Het |
| Lonp1 |
T |
A |
17: 56,925,337 (GRCm39) |
D485V |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,236,427 (GRCm39) |
T1346A |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,976,141 (GRCm39) |
T6A |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,466,866 (GRCm39) |
V1299E |
probably damaging |
Het |
| Myo1d |
C |
T |
11: 80,573,236 (GRCm39) |
G197E |
probably damaging |
Het |
| Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
| Or2ak5 |
T |
A |
11: 58,611,097 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
| Or2y1e |
C |
T |
11: 49,218,868 (GRCm39) |
A210V |
probably benign |
Het |
| Or4c121 |
T |
A |
2: 89,023,617 (GRCm39) |
I254L |
probably benign |
Het |
| Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
| Parp3 |
A |
T |
9: 106,351,922 (GRCm39) |
I150K |
probably damaging |
Het |
| Pnp |
A |
G |
14: 51,185,443 (GRCm39) |
D49G |
probably benign |
Het |
| Prkcq |
T |
C |
2: 11,251,781 (GRCm39) |
I206T |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
| Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
| Sgce |
T |
A |
6: 4,730,008 (GRCm39) |
D72V |
probably benign |
Het |
| Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
| Sost |
C |
G |
11: 101,854,865 (GRCm39) |
G148A |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,609,854 (GRCm39) |
E138G |
probably damaging |
Het |
| Tas1r2 |
A |
G |
4: 139,396,886 (GRCm39) |
T742A |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,891,605 (GRCm39) |
C649* |
probably null |
Het |
| Tnxb |
A |
G |
17: 34,922,561 (GRCm39) |
Y2458C |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,378 (GRCm39) |
N139K |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,357,544 (GRCm39) |
H1117R |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,756 (GRCm39) |
|
probably benign |
Het |
| Zfp764l1 |
T |
C |
7: 126,990,914 (GRCm39) |
T358A |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 7,230,625 (GRCm39) |
|
probably benign |
Het |
| Zfr |
T |
C |
15: 12,153,006 (GRCm39) |
S546P |
probably benign |
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 |
|
|
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'- ATTGAGCTCAAGTCCTCAGGC -3'
(R):5'- CAAAAGGTACAGCTAGCTTCTGGTTC -3'
Sequencing Primer
(F):5'- TCAAGTCCTCAGGCTTGGCAG -3'
(R):5'- TGCTCATAGAGACCTGCCACTATG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation