Incidental Mutation 'R6523:Ankfy1'
| ID |
521520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
044649-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6523 (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: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (68/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
A |
G |
1: 173,160,120 (GRCm39) |
|
probably null |
Het |
| Alg2 |
A |
T |
4: 47,472,071 (GRCm39) |
S246T |
possibly damaging |
Het |
| Arid4a |
A |
G |
12: 71,114,115 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,762,553 (GRCm39) |
|
probably null |
Het |
| B430306N03Rik |
A |
G |
17: 48,626,193 (GRCm39) |
T129A |
possibly damaging |
Het |
| Blvrb |
C |
A |
7: 27,165,142 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
T |
C |
12: 72,191,565 (GRCm39) |
N337S |
probably benign |
Het |
| Ccdc28b |
A |
C |
4: 129,514,780 (GRCm39) |
F110V |
probably damaging |
Het |
| Cd200 |
A |
G |
16: 45,220,633 (GRCm39) |
Y16H |
probably benign |
Het |
| Cfh |
T |
G |
1: 140,029,445 (GRCm39) |
E950A |
possibly damaging |
Het |
| Clec3a |
A |
T |
8: 115,152,345 (GRCm39) |
Y117F |
probably damaging |
Het |
| CN725425 |
A |
G |
15: 91,115,784 (GRCm39) |
S9G |
probably benign |
Het |
| Coasy |
T |
A |
11: 100,976,944 (GRCm39) |
W535R |
probably damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,399,480 (GRCm39) |
S30R |
probably benign |
Het |
| Csnk1a1 |
G |
A |
18: 61,688,829 (GRCm39) |
S3N |
probably benign |
Het |
| Dcst2 |
C |
G |
3: 89,280,808 (GRCm39) |
L669V |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,471,186 (GRCm39) |
I1346V |
probably benign |
Het |
| Fbxw24 |
G |
A |
9: 109,434,048 (GRCm39) |
R421* |
probably null |
Het |
| Fstl5 |
G |
A |
3: 76,443,641 (GRCm39) |
V329I |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,888,235 (GRCm39) |
|
probably null |
Het |
| Gna11 |
A |
T |
10: 81,380,688 (GRCm39) |
I25N |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,734,374 (GRCm39) |
V1539I |
possibly damaging |
Het |
| Hipk3 |
T |
A |
2: 104,269,753 (GRCm39) |
T479S |
possibly damaging |
Het |
| Hspa1b |
A |
G |
17: 35,176,167 (GRCm39) |
I606T |
probably benign |
Het |
| Idnk |
T |
A |
13: 58,311,457 (GRCm39) |
F141L |
probably damaging |
Het |
| Ifit3 |
A |
G |
19: 34,565,555 (GRCm39) |
N367S |
probably benign |
Het |
| Kcnn1 |
A |
T |
8: 71,299,169 (GRCm39) |
D448E |
possibly damaging |
Het |
| Krt14 |
T |
C |
11: 100,095,923 (GRCm39) |
T212A |
possibly damaging |
Het |
| Ldlr |
G |
A |
9: 21,648,549 (GRCm39) |
C285Y |
probably damaging |
Het |
| Mark3 |
G |
A |
12: 111,593,669 (GRCm39) |
V234I |
probably damaging |
Het |
| Meikin |
T |
A |
11: 54,289,327 (GRCm39) |
Y233* |
probably null |
Het |
| Mtcl2 |
G |
A |
2: 156,902,263 (GRCm39) |
Q251* |
probably null |
Het |
| Muc20 |
T |
C |
16: 32,613,820 (GRCm39) |
D519G |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,555,255 (GRCm39) |
H876L |
probably benign |
Het |
| Ncaph |
A |
T |
2: 126,947,809 (GRCm39) |
I698K |
probably damaging |
Het |
| Nipal1 |
A |
T |
5: 72,824,951 (GRCm39) |
I215F |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,100,664 (GRCm39) |
D607E |
possibly damaging |
Het |
| Nt5dc2 |
T |
C |
14: 30,857,662 (GRCm39) |
F217S |
probably damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,706,697 (GRCm39) |
S156T |
probably benign |
Het |
| Or13c9 |
A |
T |
4: 52,935,500 (GRCm39) |
I261N |
probably damaging |
Het |
| Or5b110-ps1 |
A |
C |
19: 13,259,728 (GRCm39) |
D231E |
probably benign |
Het |
| Or5p4 |
A |
C |
7: 107,680,762 (GRCm39) |
T254P |
probably benign |
Het |
| Pfas |
A |
T |
11: 68,881,283 (GRCm39) |
I1028K |
probably benign |
Het |
| Pnpla5 |
C |
A |
15: 83,999,912 (GRCm39) |
R329L |
possibly damaging |
Het |
| Pramel30 |
T |
C |
4: 144,058,218 (GRCm39) |
V275A |
probably benign |
Het |
| Rhot2 |
A |
G |
17: 26,058,394 (GRCm39) |
V393A |
possibly damaging |
Het |
| Rigi |
T |
A |
4: 40,205,947 (GRCm39) |
T882S |
probably benign |
Het |
| Rnase9 |
T |
A |
14: 51,276,684 (GRCm39) |
Y98F |
possibly damaging |
Het |
| Sacs |
C |
A |
14: 61,440,410 (GRCm39) |
L819I |
probably damaging |
Het |
| Sall3 |
C |
T |
18: 81,016,403 (GRCm39) |
M508I |
possibly damaging |
Het |
| Scube3 |
G |
A |
17: 28,381,362 (GRCm39) |
C301Y |
probably damaging |
Het |
| Sgo2b |
G |
T |
8: 64,380,538 (GRCm39) |
H765N |
probably benign |
Het |
| Sh3gl1 |
A |
T |
17: 56,324,617 (GRCm39) |
Y344N |
possibly damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,572,683 (GRCm39) |
V635A |
probably benign |
Het |
| Slc1a4 |
T |
A |
11: 20,282,114 (GRCm39) |
Y40F |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,117,305 (GRCm39) |
K755* |
probably null |
Het |
| Slco1a5 |
C |
T |
6: 142,212,121 (GRCm39) |
G38R |
probably damaging |
Het |
| Snx25 |
T |
A |
8: 46,508,892 (GRCm39) |
D564V |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,486,018 (GRCm39) |
D189E |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,896,095 (GRCm39) |
|
probably null |
Het |
| Ssbp2 |
A |
G |
13: 91,841,170 (GRCm39) |
I317V |
probably benign |
Het |
| Stil |
AAGATTTCCAG |
A |
4: 114,889,911 (GRCm39) |
|
probably null |
Het |
| Strn3 |
A |
T |
12: 51,689,881 (GRCm39) |
|
probably null |
Het |
| Tcaf2 |
A |
T |
6: 42,619,953 (GRCm39) |
F25I |
probably benign |
Het |
| Themis |
C |
T |
10: 28,657,894 (GRCm39) |
T154I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,626,390 (GRCm39) |
R13176G |
probably damaging |
Het |
| Utp4 |
G |
A |
8: 107,625,095 (GRCm39) |
V125M |
probably damaging |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,777 (GRCm39) |
M202L |
possibly damaging |
Het |
| Zfp292 |
G |
C |
4: 34,816,301 (GRCm39) |
F329L |
probably benign |
Het |
| Zfp541 |
C |
T |
7: 15,829,445 (GRCm39) |
P1281L |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,973,968 (GRCm39) |
Q79L |
possibly 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 |
|
R6521: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'- TGTCTACTGATGGTGCAGAGAG -3'
Sequencing Primer
(F):5'- GTGAGCTCTCTGGCCTCTG -3'
(R):5'- TGTTGATAACATTAAAGTTTGGGGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation