Incidental Mutation 'R5960:Ankfy1'
| ID |
471422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
044147-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5960 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72648178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 886
(S886R)
|
| 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: ENSMUST00000147195
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155998
AA Change: S886R
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: S886R
| 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 |
0.8052 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
| Validation Efficiency |
99% (71/72) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,528 (GRCm39) |
T30A |
possibly damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,233 (GRCm39) |
M197V |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,115,489 (GRCm39) |
T210A |
probably benign |
Het |
| Aopep |
G |
A |
13: 63,388,087 (GRCm39) |
R22Q |
probably damaging |
Het |
| Atg2a |
T |
G |
19: 6,304,390 (GRCm39) |
F1136V |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,835,760 (GRCm39) |
T72S |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,717,869 (GRCm39) |
T219A |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,884,208 (GRCm39) |
|
probably benign |
Het |
| Cdh12 |
A |
G |
15: 21,492,562 (GRCm39) |
|
probably null |
Het |
| Cfap126 |
A |
G |
1: 170,952,882 (GRCm39) |
D45G |
probably damaging |
Het |
| Ciz1 |
C |
A |
2: 32,261,228 (GRCm39) |
Q356K |
possibly damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,194,058 (GRCm39) |
I407N |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,121,430 (GRCm39) |
E1756K |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,411,404 (GRCm39) |
K94E |
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,023,193 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,465,807 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,788,554 (GRCm39) |
G138* |
probably null |
Het |
| Fam20a |
G |
A |
11: 109,566,795 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
G |
7: 79,093,510 (GRCm39) |
T1006A |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,405 (GRCm39) |
Y3320H |
probably damaging |
Het |
| Fndc8 |
A |
G |
11: 82,788,398 (GRCm39) |
D76G |
probably benign |
Het |
| Gm19965 |
T |
C |
1: 116,749,201 (GRCm39) |
I294T |
possibly damaging |
Het |
| Gm9755 |
T |
G |
8: 67,967,840 (GRCm39) |
|
noncoding transcript |
Het |
| Iars1 |
T |
C |
13: 49,878,113 (GRCm39) |
V879A |
possibly damaging |
Het |
| Ifi209 |
A |
T |
1: 173,466,382 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
T |
C |
16: 96,227,459 (GRCm39) |
H528R |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,970,281 (GRCm39) |
Q146R |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,567,731 (GRCm39) |
T407A |
probably benign |
Het |
| Mtg1 |
T |
C |
7: 139,726,906 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,402,724 (GRCm39) |
S1317A |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,115,865 (GRCm39) |
V933A |
probably damaging |
Het |
| Nudt16 |
A |
T |
9: 105,008,698 (GRCm39) |
C63S |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,625,915 (GRCm39) |
I49V |
probably null |
Het |
| Or51a24 |
G |
T |
7: 103,733,560 (GRCm39) |
N242K |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,069 (GRCm39) |
S267T |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,495 (GRCm39) |
S671P |
possibly damaging |
Het |
| Paox |
A |
G |
7: 139,712,402 (GRCm39) |
D211G |
probably benign |
Het |
| Pck2 |
A |
G |
14: 55,786,004 (GRCm39) |
T571A |
possibly damaging |
Het |
| Pigg |
A |
G |
5: 108,484,160 (GRCm39) |
E469G |
probably benign |
Het |
| Pikfyve |
C |
A |
1: 65,292,597 (GRCm39) |
Y1349* |
probably null |
Het |
| Prickle2 |
A |
G |
6: 92,353,286 (GRCm39) |
F783L |
probably benign |
Het |
| Prpf40b |
G |
T |
15: 99,212,785 (GRCm39) |
R627L |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,903,437 (GRCm39) |
I1217V |
possibly damaging |
Het |
| Rbm26 |
A |
T |
14: 105,387,751 (GRCm39) |
V457D |
probably damaging |
Het |
| Rex1bd |
C |
A |
8: 70,959,156 (GRCm39) |
R49L |
probably null |
Het |
| Robo2 |
A |
T |
16: 73,730,603 (GRCm39) |
L1003Q |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,446,144 (GRCm39) |
D2730G |
probably benign |
Het |
| Setd6 |
T |
A |
8: 96,442,827 (GRCm39) |
L88H |
probably damaging |
Het |
| Smim35 |
T |
C |
9: 45,154,288 (GRCm39) |
Y50H |
probably damaging |
Het |
| Sncb |
A |
G |
13: 54,910,795 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,225 (GRCm39) |
H985L |
probably benign |
Het |
| Spmap2 |
T |
G |
10: 79,421,765 (GRCm39) |
K151T |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,530,442 (GRCm39) |
E2233G |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,475,770 (GRCm39) |
V410I |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,494 (GRCm39) |
S281P |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,100,598 (GRCm39) |
R330C |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,488,915 (GRCm39) |
D741V |
probably benign |
Het |
| Tph1 |
A |
G |
7: 46,311,429 (GRCm39) |
|
probably null |
Het |
| Trav7-5 |
T |
A |
14: 53,768,706 (GRCm39) |
H91Q |
probably benign |
Het |
| Tymp |
A |
T |
15: 89,260,778 (GRCm39) |
|
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
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 |
|
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'- CTGGAACTGAGGAAGGATGCTC -3'
(R):5'- GCTTTGGTTCCCAGATTCATGC -3'
Sequencing Primer
(F):5'- AAGGATGCTCCGTGGCCTTC -3'
(R):5'- GCCTTTTGTTCACAACAGCTTGAAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation