Incidental Mutation 'R6521:Ankfy1'
ID |
521296 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankfy1
|
Ensembl Gene |
ENSMUSG00000020790 |
Gene Name |
ankyrin repeat and FYVE domain containing 1 |
Synonyms |
Ankhzn |
MMRRC Submission |
044647-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6521 (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 72621308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 198
(R198Q)
|
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 |
possibly damaging
Transcript: ENSMUST00000127610
AA Change: R198Q
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000118252 Gene: ENSMUSG00000020790 AA Change: R198Q
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 |
possibly damaging
Transcript: ENSMUST00000155998
AA Change: R198Q
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000118751 Gene: ENSMUSG00000020790 AA Change: R198Q
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 |
0.1712 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
100% (48/48) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,769,968 (GRCm39) |
S356T |
probably benign |
Het |
Acsbg2 |
T |
C |
17: 57,168,565 (GRCm39) |
M185V |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,581,771 (GRCm39) |
F4758I |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,828,596 (GRCm39) |
|
probably benign |
Het |
Ano4 |
A |
G |
10: 88,819,640 (GRCm39) |
V537A |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,237,288 (GRCm39) |
L204P |
probably damaging |
Het |
Cdh20 |
A |
C |
1: 104,869,859 (GRCm39) |
D193A |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,484,756 (GRCm39) |
|
probably null |
Het |
Celf4 |
T |
A |
18: 25,612,531 (GRCm39) |
|
probably null |
Het |
Cfap91 |
A |
G |
16: 38,127,121 (GRCm39) |
V545A |
probably benign |
Het |
Crebbp |
A |
T |
16: 3,936,992 (GRCm39) |
F754I |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,145,415 (GRCm39) |
I635N |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,081,689 (GRCm39) |
D1131V |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Hoxc8 |
G |
A |
15: 102,901,135 (GRCm39) |
V193M |
probably benign |
Het |
Klhdc3 |
A |
G |
17: 46,988,687 (GRCm39) |
V124A |
probably benign |
Het |
Klhl18 |
A |
G |
9: 110,257,703 (GRCm39) |
I509T |
possibly damaging |
Het |
Mdfic |
T |
A |
6: 15,729,027 (GRCm39) |
|
probably benign |
Het |
Mkln1 |
T |
A |
6: 31,467,479 (GRCm39) |
D64E |
probably damaging |
Het |
Mmd2 |
A |
G |
5: 142,560,585 (GRCm39) |
I112T |
probably damaging |
Het |
Mpl |
C |
T |
4: 118,312,314 (GRCm39) |
|
probably null |
Het |
Mtmr4 |
A |
G |
11: 87,504,353 (GRCm39) |
T1044A |
possibly damaging |
Het |
Muc5b |
C |
A |
7: 141,412,908 (GRCm39) |
Y1951* |
probably null |
Het |
Myo15a |
C |
T |
11: 60,393,195 (GRCm39) |
H2240Y |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 126,309,909 (GRCm39) |
I74K |
probably damaging |
Het |
Nfxl1 |
A |
T |
5: 72,697,651 (GRCm39) |
|
probably null |
Het |
Or11j4 |
T |
C |
14: 50,631,005 (GRCm39) |
V264A |
possibly damaging |
Het |
Or2ah1 |
A |
T |
2: 85,653,794 (GRCm39) |
I160F |
probably benign |
Het |
Or4c11c |
A |
G |
2: 88,661,700 (GRCm39) |
I80V |
probably benign |
Het |
Or8d2 |
C |
T |
9: 38,759,893 (GRCm39) |
T161I |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,154,399 (GRCm39) |
Y2460C |
probably damaging |
Het |
Pigx |
A |
G |
16: 31,906,129 (GRCm39) |
L64P |
probably damaging |
Het |
Prss1 |
C |
T |
6: 41,440,615 (GRCm39) |
T230I |
probably damaging |
Het |
Ptma |
A |
G |
1: 86,455,569 (GRCm39) |
|
probably null |
Het |
Rab39 |
T |
C |
9: 53,617,331 (GRCm39) |
T29A |
probably benign |
Het |
Rem2 |
C |
T |
14: 54,715,144 (GRCm39) |
A107V |
possibly damaging |
Het |
Senp1 |
A |
G |
15: 97,946,152 (GRCm39) |
V531A |
probably damaging |
Het |
Serhl |
A |
G |
15: 82,985,843 (GRCm39) |
|
probably null |
Het |
Sirpa |
T |
G |
2: 129,472,075 (GRCm39) |
Y164D |
probably damaging |
Het |
Slc12a3 |
T |
C |
8: 95,069,741 (GRCm39) |
I550T |
possibly damaging |
Het |
Slc22a14 |
T |
C |
9: 119,049,835 (GRCm39) |
|
probably null |
Het |
Slfn5 |
A |
G |
11: 82,851,241 (GRCm39) |
N513D |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
Swap70 |
T |
C |
7: 109,855,027 (GRCm39) |
L109P |
probably benign |
Het |
Tas2r119 |
G |
A |
15: 32,178,319 (GRCm39) |
C295Y |
probably damaging |
Het |
Tcaf3 |
T |
A |
6: 42,570,172 (GRCm39) |
I527L |
probably damaging |
Het |
Traj31 |
A |
G |
14: 54,425,387 (GRCm39) |
|
probably benign |
Het |
Unc5a |
T |
A |
13: 55,152,748 (GRCm39) |
D887E |
probably benign |
Het |
Zfp407 |
T |
A |
18: 84,450,536 (GRCm39) |
H1600L |
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 |
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 |
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'- ACTTGTGTGAGCTCTCTGGC -3'
(R):5'- ATGTCTACTGATGGTGCAGAGAG -3'
Sequencing Primer
(F):5'- GTGAGCTCTCTGGCCTCTG -3'
(R):5'- TGTTGATAACATTAAAGTTTGGGGAG -3'
|
Posted On |
2018-06-06 |