Incidental Mutation 'R1552:Ankfy1'
| ID |
170025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
039591-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1552 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 72645321 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 |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9486 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
97% (71/73) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
A |
16: 20,217,617 (GRCm39) |
I365F |
probably damaging |
Het |
| Abhd15 |
T |
C |
11: 77,406,233 (GRCm39) |
L70P |
probably damaging |
Het |
| Adam18 |
A |
C |
8: 25,136,377 (GRCm39) |
H381Q |
probably benign |
Het |
| Arcn1 |
C |
T |
9: 44,670,291 (GRCm39) |
A112T |
probably damaging |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Calhm1 |
C |
T |
19: 47,129,640 (GRCm39) |
R294H |
probably benign |
Het |
| Ccdc121rt1 |
A |
G |
1: 181,338,556 (GRCm39) |
L132P |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,212,615 (GRCm39) |
E81G |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,610,060 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
C |
T |
1: 155,786,484 (GRCm39) |
R1454Q |
possibly damaging |
Het |
| Chrna3 |
C |
A |
9: 54,923,192 (GRCm39) |
E205D |
probably benign |
Het |
| Chst5 |
T |
C |
8: 112,616,912 (GRCm39) |
D236G |
probably damaging |
Het |
| Coro1a |
T |
C |
7: 126,299,124 (GRCm39) |
N367D |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,373,346 (GRCm39) |
I474V |
probably benign |
Het |
| Cyth3 |
G |
A |
5: 143,683,505 (GRCm39) |
V87I |
probably benign |
Het |
| Dclk3 |
C |
A |
9: 111,317,647 (GRCm39) |
T761K |
probably damaging |
Het |
| Dvl2 |
T |
A |
11: 69,897,198 (GRCm39) |
M300K |
possibly damaging |
Het |
| Eefsec |
C |
T |
6: 88,353,182 (GRCm39) |
|
probably benign |
Het |
| Exog |
T |
C |
9: 119,274,176 (GRCm39) |
S54P |
unknown |
Het |
| Fasn |
A |
G |
11: 120,709,384 (GRCm39) |
S519P |
probably damaging |
Het |
| Gas8 |
G |
A |
8: 124,247,385 (GRCm39) |
A16T |
probably benign |
Het |
| Got2 |
A |
G |
8: 96,596,122 (GRCm39) |
S333P |
probably benign |
Het |
| Hadhb |
T |
A |
5: 30,381,931 (GRCm39) |
L287Q |
probably null |
Het |
| Ift57 |
A |
G |
16: 49,579,716 (GRCm39) |
T211A |
probably benign |
Het |
| Il1rap |
A |
G |
16: 26,541,184 (GRCm39) |
E475G |
possibly damaging |
Het |
| Ilkap |
A |
T |
1: 91,312,316 (GRCm39) |
D11E |
probably damaging |
Het |
| Impact |
T |
C |
18: 13,117,337 (GRCm39) |
S137P |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,064,675 (GRCm39) |
V920A |
probably damaging |
Het |
| Kcnk18 |
A |
T |
19: 59,223,890 (GRCm39) |
H345L |
probably damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,325 (GRCm39) |
Y178N |
probably damaging |
Het |
| Klk1b1 |
A |
G |
7: 43,618,767 (GRCm39) |
Y48C |
probably damaging |
Het |
| Klra5 |
G |
T |
6: 129,886,848 (GRCm39) |
T60K |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,806,270 (GRCm39) |
L643H |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,013,067 (GRCm39) |
|
probably null |
Het |
| Lingo2 |
A |
G |
4: 35,708,315 (GRCm39) |
V555A |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,946 (GRCm39) |
S251P |
probably damaging |
Het |
| Mc4r |
T |
C |
18: 66,992,766 (GRCm39) |
S116G |
probably benign |
Het |
| Mipol1 |
T |
C |
12: 57,352,874 (GRCm39) |
V71A |
possibly damaging |
Het |
| Myo15b |
A |
C |
11: 115,757,461 (GRCm39) |
S1104R |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,459,771 (GRCm39) |
D26E |
probably damaging |
Het |
| Neu1 |
C |
T |
17: 35,151,089 (GRCm39) |
|
probably benign |
Het |
| Npffr2 |
T |
C |
5: 89,730,975 (GRCm39) |
S302P |
possibly damaging |
Het |
| Or8b48 |
T |
C |
9: 38,492,675 (GRCm39) |
M34T |
probably benign |
Het |
| Palmd |
T |
A |
3: 116,741,689 (GRCm39) |
|
probably benign |
Het |
| Pcdh8 |
A |
T |
14: 80,008,047 (GRCm39) |
V172E |
probably benign |
Het |
| Pnpla6 |
C |
A |
8: 3,572,403 (GRCm39) |
Q291K |
probably damaging |
Het |
| Pou2af2 |
T |
A |
9: 51,202,870 (GRCm39) |
S95C |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,749,320 (GRCm39) |
F357L |
probably benign |
Het |
| Ptprj |
A |
T |
2: 90,301,497 (GRCm39) |
Y212N |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,165,376 (GRCm39) |
H2061N |
probably benign |
Het |
| Rint1 |
T |
A |
5: 24,005,656 (GRCm39) |
S113T |
probably benign |
Het |
| Rnf38 |
G |
C |
4: 44,142,468 (GRCm39) |
|
probably null |
Het |
| Slc30a4 |
T |
A |
2: 122,527,936 (GRCm39) |
I374L |
probably benign |
Het |
| Slfn10-ps |
T |
C |
11: 82,920,676 (GRCm39) |
|
noncoding transcript |
Het |
| Smcp |
A |
T |
3: 92,491,710 (GRCm39) |
C46S |
unknown |
Het |
| Smu1 |
A |
C |
4: 40,748,570 (GRCm39) |
V240G |
probably damaging |
Het |
| Srsf5 |
A |
G |
12: 80,996,519 (GRCm39) |
|
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,524,812 (GRCm39) |
|
probably null |
Het |
| Stx18 |
A |
G |
5: 38,262,335 (GRCm39) |
E63G |
probably damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,130 (GRCm39) |
Y222H |
probably benign |
Het |
| Tescl |
G |
T |
7: 24,032,758 (GRCm39) |
P189Q |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,084,203 (GRCm39) |
S125P |
probably damaging |
Het |
| Ugt2a2 |
G |
T |
5: 87,609,880 (GRCm39) |
D566E |
possibly damaging |
Het |
| Unc13b |
A |
T |
4: 43,237,144 (GRCm39) |
T3405S |
probably damaging |
Het |
| Upf1 |
G |
A |
8: 70,785,709 (GRCm39) |
Q1046* |
probably null |
Het |
| Wwox |
T |
A |
8: 115,172,090 (GRCm39) |
Y61* |
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,468,170 (GRCm39) |
T2776M |
probably damaging |
Het |
| Zranb3 |
G |
A |
1: 127,888,488 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GACGTGAATAGTCCCAGACAACCAG -3'
(R):5'- CATGGCGCTTACACAAACATTCTCTC -3'
Sequencing Primer
(F):5'- GTCCCAGACAACCAGGTACTAATG -3'
(R):5'- ctctctctctctctctctctctc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation