Incidental Mutation 'R8236:Ankfy1'
| ID |
637368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
067668-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8236 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72645181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 753
(S753R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127610]
[ENSMUST00000155998]
|
| AlphaFold |
Q810B6 |
| 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 |
possibly damaging
Transcript: ENSMUST00000155998
AA Change: S753R
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: S753R
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
C |
T |
1: 85,974,115 (GRCm39) |
A144V |
possibly damaging |
Het |
| Actr8 |
A |
G |
14: 29,704,585 (GRCm39) |
I51M |
probably damaging |
Het |
| Afm |
A |
T |
5: 90,671,747 (GRCm39) |
D143V |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Bicdl1 |
T |
C |
5: 115,787,618 (GRCm39) |
H527R |
probably benign |
Het |
| Birc6 |
G |
C |
17: 74,918,126 (GRCm39) |
L1845F |
probably damaging |
Het |
| Brip1 |
C |
A |
11: 86,029,938 (GRCm39) |
D569Y |
probably damaging |
Het |
| Cab39 |
T |
C |
1: 85,776,092 (GRCm39) |
L263P |
probably damaging |
Het |
| Cblb |
C |
A |
16: 51,986,392 (GRCm39) |
P545Q |
possibly damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,160,722 (GRCm39) |
P1579Q |
probably benign |
Het |
| Cdt1 |
A |
G |
8: 123,298,767 (GRCm39) |
E468G |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 8,097,024 (GRCm39) |
|
probably null |
Het |
| Coro2a |
A |
G |
4: 46,548,796 (GRCm39) |
I166T |
possibly damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,647,164 (GRCm39) |
A287T |
probably benign |
Het |
| Dcc |
C |
T |
18: 72,088,089 (GRCm39) |
V50I |
probably benign |
Het |
| Defb30 |
A |
T |
14: 63,287,216 (GRCm39) |
M19K |
unknown |
Het |
| Dync2h1 |
C |
A |
9: 7,080,363 (GRCm39) |
|
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,618,905 (GRCm39) |
T1291A |
possibly damaging |
Het |
| Epyc |
A |
T |
10: 97,517,067 (GRCm39) |
N302Y |
probably damaging |
Het |
| Espn |
G |
A |
4: 152,233,487 (GRCm39) |
T106I |
probably damaging |
Het |
| Fam135a |
T |
C |
1: 24,059,729 (GRCm39) |
|
probably null |
Het |
| Fam171b |
G |
A |
2: 83,710,550 (GRCm39) |
E741K |
probably damaging |
Het |
| Fgfr1 |
G |
T |
8: 26,052,288 (GRCm39) |
E205* |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,293,670 (GRCm39) |
S469P |
probably benign |
Het |
| Gdpd3 |
A |
G |
7: 126,367,838 (GRCm39) |
K224E |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm43518 |
C |
T |
5: 124,072,285 (GRCm39) |
Q17* |
probably null |
Het |
| Gm4353 |
T |
C |
7: 115,682,618 (GRCm39) |
Y321C |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,711,311 (GRCm39) |
H631R |
probably damaging |
Het |
| Hook1 |
T |
A |
4: 95,903,042 (GRCm39) |
|
probably null |
Het |
| Il9 |
T |
A |
13: 56,630,058 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,292,281 (GRCm39) |
|
probably null |
Het |
| Lhcgr |
A |
T |
17: 89,050,014 (GRCm39) |
L504* |
probably null |
Het |
| Mical3 |
A |
G |
6: 120,989,504 (GRCm39) |
V272A |
|
Het |
| Mup10 |
A |
G |
4: 60,537,562 (GRCm39) |
I63T |
probably damaging |
Het |
| Mxi1 |
C |
G |
19: 53,358,029 (GRCm39) |
P165R |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,690,131 (GRCm39) |
I179F |
probably benign |
Het |
| Or5w14 |
T |
A |
2: 87,542,104 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 124,440,067 (GRCm38) |
H53R |
|
Het |
| Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
| Ptpn4 |
A |
G |
1: 119,606,552 (GRCm39) |
V781A |
possibly damaging |
Het |
| Ptprt |
C |
T |
2: 161,528,988 (GRCm39) |
|
probably null |
Het |
| Rtf1 |
T |
C |
2: 119,531,695 (GRCm39) |
S141P |
probably damaging |
Het |
| Slc2a1 |
G |
C |
4: 118,990,454 (GRCm39) |
S226T |
probably benign |
Het |
| Smyd3 |
A |
C |
1: 179,233,205 (GRCm39) |
|
probably null |
Het |
| Sos1 |
T |
C |
17: 80,715,712 (GRCm39) |
E1015G |
probably benign |
Het |
| Sult1b1 |
G |
T |
5: 87,669,383 (GRCm39) |
T155N |
probably damaging |
Het |
| Tcam1 |
A |
G |
11: 106,177,243 (GRCm39) |
I412V |
probably benign |
Het |
| Tet2 |
G |
A |
3: 133,193,547 (GRCm39) |
P296S |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,096,542 (GRCm39) |
D193G |
probably null |
Het |
| Trem2 |
G |
T |
17: 48,658,934 (GRCm39) |
W233L |
probably benign |
Het |
| Trpm3 |
C |
A |
19: 22,964,772 (GRCm39) |
D1422E |
probably benign |
Het |
| Ttbk1 |
T |
G |
17: 46,781,655 (GRCm39) |
D366A |
probably damaging |
Het |
| Ttyh1 |
G |
A |
7: 4,128,547 (GRCm39) |
G148D |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,835 (GRCm39) |
M1259V |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,032,281 (GRCm39) |
D553V |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,079,135 (GRCm39) |
S941P |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,393 (GRCm39) |
Y15H |
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 |
|
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 |
|
|
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'- AGTTCTGATTCCCAGGCTGC -3'
(R):5'- CCTTGCCACAAGAGACAATTTC -3'
Sequencing Primer
(F):5'- TGATTCCCAGGCTGCCCTAAG -3'
(R):5'- TCTCTACATTAATCTCCCCAGAAAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation