Incidental Mutation 'R4765:Ankfy1'
| ID |
366078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
042406-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4765 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 72603117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 49
(S49A)
|
| 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
AA Change: S49A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118252
Gene: ENSMUSG00000020790
AA Change: S49A
| 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
AA Change: S49A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: S49A
| 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: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,987 (GRCm39) |
R490C |
probably benign |
Het |
| Abcb11 |
A |
T |
2: 69,076,211 (GRCm39) |
F1166I |
probably damaging |
Het |
| Acta2 |
T |
C |
19: 34,223,552 (GRCm39) |
D181G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,255,038 (GRCm39) |
I6195T |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Azi2 |
A |
T |
9: 117,890,539 (GRCm39) |
|
probably benign |
Het |
| Bend3 |
A |
T |
10: 43,386,746 (GRCm39) |
S380C |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,776,423 (GRCm39) |
T759A |
probably damaging |
Het |
| Cdh10 |
G |
T |
15: 19,013,364 (GRCm39) |
V655L |
probably damaging |
Het |
| Cdkn2aip |
C |
A |
8: 48,166,582 (GRCm39) |
W75L |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,787,002 (GRCm39) |
R192* |
probably null |
Het |
| Cflar |
T |
C |
1: 58,771,480 (GRCm39) |
S203P |
probably damaging |
Het |
| Chd6 |
A |
T |
2: 160,808,164 (GRCm39) |
C1683* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,963,699 (GRCm39) |
Y476C |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,183,388 (GRCm39) |
D169G |
possibly damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,044,441 (GRCm39) |
R1536S |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,094,979 (GRCm39) |
D752A |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,818,552 (GRCm39) |
G78D |
probably damaging |
Het |
| Drc1 |
G |
T |
5: 30,506,075 (GRCm39) |
Q249H |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,200,280 (GRCm39) |
I364V |
probably benign |
Het |
| Dtymk |
T |
C |
1: 93,720,631 (GRCm39) |
H130R |
probably damaging |
Het |
| Elac2 |
T |
G |
11: 64,883,048 (GRCm39) |
F140V |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,739,068 (GRCm39) |
V353A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,013 (GRCm39) |
D2900G |
probably damaging |
Het |
| Fermt2 |
G |
T |
14: 45,699,693 (GRCm39) |
T536K |
probably benign |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,795,381 (GRCm39) |
K328R |
probably null |
Het |
| Gata6 |
A |
G |
18: 11,054,394 (GRCm39) |
T108A |
probably benign |
Het |
| Gm16503 |
G |
T |
4: 147,625,554 (GRCm39) |
G16V |
unknown |
Het |
| Gpr37 |
T |
G |
6: 25,669,107 (GRCm39) |
E579A |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,807,187 (GRCm39) |
|
probably benign |
Het |
| Hcn4 |
A |
T |
9: 58,765,260 (GRCm39) |
I581F |
unknown |
Het |
| Hfm1 |
T |
A |
5: 106,990,405 (GRCm39) |
Y1335F |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,237,126 (GRCm39) |
S1018R |
probably benign |
Het |
| Katnal2 |
C |
T |
18: 77,065,239 (GRCm39) |
|
probably null |
Het |
| Kctd8 |
T |
C |
5: 69,498,191 (GRCm39) |
K152E |
possibly damaging |
Het |
| Lrp8 |
T |
C |
4: 107,711,592 (GRCm39) |
C459R |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,321,543 (GRCm39) |
I48L |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,420,866 (GRCm39) |
I835F |
possibly damaging |
Het |
| Mei1 |
A |
T |
15: 81,996,686 (GRCm39) |
I946F |
possibly damaging |
Het |
| Mrtfb |
C |
A |
16: 13,230,458 (GRCm39) |
P1048T |
probably damaging |
Het |
| Myo7b |
G |
C |
18: 32,094,953 (GRCm39) |
L1881V |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,639,387 (GRCm39) |
|
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,807 (GRCm39) |
Y175F |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,440 (GRCm39) |
C113R |
possibly damaging |
Het |
| Pcdhgc5 |
T |
C |
18: 37,955,122 (GRCm39) |
S799P |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,756,457 (GRCm39) |
E97G |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,268,826 (GRCm39) |
H114Q |
possibly damaging |
Het |
| Rad9a |
C |
A |
19: 4,250,488 (GRCm39) |
V109L |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,938,352 (GRCm39) |
H1917R |
probably benign |
Het |
| Scyl2 |
C |
T |
10: 89,495,160 (GRCm39) |
V304I |
probably damaging |
Het |
| Serpina3f |
G |
C |
12: 104,185,690 (GRCm39) |
E298D |
probably benign |
Het |
| Shoc2 |
A |
G |
19: 53,976,734 (GRCm39) |
E208G |
probably benign |
Het |
| Sin3a |
G |
A |
9: 57,004,087 (GRCm39) |
V280I |
probably benign |
Het |
| Slc26a2 |
A |
T |
18: 61,332,558 (GRCm39) |
I291N |
probably damaging |
Het |
| Slc4a7 |
T |
G |
14: 14,762,414 (GRCm38) |
D600E |
probably damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,195,427 (GRCm39) |
F430L |
possibly damaging |
Het |
| Snx19 |
A |
C |
9: 30,351,453 (GRCm39) |
Q840H |
probably damaging |
Het |
| Spast |
C |
A |
17: 74,676,211 (GRCm39) |
D340E |
probably damaging |
Het |
| Sprr4 |
G |
A |
3: 92,407,716 (GRCm39) |
P29S |
unknown |
Het |
| Stk11ip |
T |
G |
1: 75,503,799 (GRCm39) |
L239R |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,889,862 (GRCm39) |
L20P |
probably damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,023,447 (GRCm39) |
S129T |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,633,753 (GRCm39) |
I1284V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,602,851 (GRCm39) |
Y16711C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,331 (GRCm39) |
L33885P |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,456,075 (GRCm39) |
C501S |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,793,923 (GRCm39) |
L87* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,027,470 (GRCm39) |
Y320C |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,217,947 (GRCm39) |
V465A |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,471 (GRCm39) |
A65T |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,800,182 (GRCm39) |
C720Y |
probably damaging |
Het |
| Xrra1 |
T |
C |
7: 99,555,775 (GRCm39) |
Y381H |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,465,212 (GRCm39) |
L1790P |
probably benign |
Het |
| Zscan4d |
T |
A |
7: 10,896,594 (GRCm39) |
M259L |
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 |
|
|
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 |
|
|
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'- CCCGCCATGTAAACATTCTTTG -3'
(R):5'- ACCAGGCCTAGAAGTGTAGG -3'
Sequencing Primer
(F):5'- AACATTCTTTGTTTCCCTTGCAGAGG -3'
(R):5'- CTGTCTACCTGAGAGGCTTGAAC -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation