Incidental Mutation 'R4904:Ankfy1'
| ID |
378049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
042507-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72642931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 665
(H665N)
|
| 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 benign
Transcript: ENSMUST00000155998
AA Change: H665N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: H665N
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
94% (82/87) |
| 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 |
|---|
| Adgrb2 |
T |
G |
4: 129,906,332 (GRCm39) |
I920S |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,871,786 (GRCm39) |
I556T |
probably benign |
Het |
| Aqp9 |
A |
C |
9: 71,069,685 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,854,872 (GRCm39) |
S1497P |
probably benign |
Het |
| Armc7 |
A |
G |
11: 115,379,800 (GRCm39) |
D166G |
probably damaging |
Het |
| Arrdc1 |
C |
A |
2: 24,816,676 (GRCm39) |
V167F |
possibly damaging |
Het |
| Col6a3 |
A |
T |
1: 90,729,164 (GRCm39) |
I1259N |
probably damaging |
Het |
| Coq8a |
C |
T |
1: 180,006,168 (GRCm39) |
R207Q |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcbld1 |
C |
T |
10: 52,196,066 (GRCm39) |
Q425* |
probably null |
Het |
| Def8 |
A |
G |
8: 124,188,219 (GRCm39) |
N445D |
probably damaging |
Het |
| Dicer1 |
C |
T |
12: 104,679,325 (GRCm39) |
V551I |
probably benign |
Het |
| Dst |
A |
T |
1: 34,208,879 (GRCm39) |
T800S |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,300,457 (GRCm39) |
C136S |
probably damaging |
Het |
| Duox1 |
T |
A |
2: 122,151,345 (GRCm39) |
Y310N |
probably damaging |
Het |
| Duxf1 |
T |
A |
10: 58,059,309 (GRCm39) |
R482* |
probably null |
Het |
| Ebf1 |
T |
C |
11: 44,759,996 (GRCm39) |
F211S |
probably damaging |
Het |
| Gm44501 |
A |
T |
17: 40,889,884 (GRCm39) |
I133F |
possibly damaging |
Het |
| Gm6625 |
T |
C |
8: 89,873,379 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,713,748 (GRCm39) |
D243V |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf2a1l |
G |
A |
17: 88,997,471 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,807,234 (GRCm39) |
F2471L |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,892,037 (GRCm39) |
I109N |
probably damaging |
Het |
| Hrg |
A |
G |
16: 22,770,000 (GRCm39) |
E43G |
probably benign |
Het |
| Hspa1a |
T |
C |
17: 35,189,427 (GRCm39) |
D492G |
probably damaging |
Het |
| Itgb8 |
T |
C |
12: 119,134,606 (GRCm39) |
D487G |
probably benign |
Het |
| Jag1 |
A |
G |
2: 136,929,062 (GRCm39) |
V798A |
probably damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,494,324 (GRCm39) |
V501A |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,396 (GRCm39) |
V743A |
possibly damaging |
Het |
| Ly86 |
G |
T |
13: 37,599,496 (GRCm39) |
V126F |
possibly damaging |
Het |
| Med26 |
A |
T |
8: 73,250,691 (GRCm39) |
L136H |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,891,413 (GRCm39) |
D575G |
probably benign |
Het |
| Myoc |
G |
A |
1: 162,466,994 (GRCm39) |
M54I |
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,133,454 (GRCm39) |
|
noncoding transcript |
Het |
| Or10v9 |
C |
T |
19: 11,833,231 (GRCm39) |
V29M |
possibly damaging |
Het |
| Or51t4 |
A |
G |
7: 102,598,272 (GRCm39) |
Y190C |
probably damaging |
Het |
| Or5v1b |
A |
G |
17: 37,841,522 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,925,267 (GRCm39) |
D678E |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,909 (GRCm39) |
V685A |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,932 (GRCm39) |
T259A |
possibly damaging |
Het |
| Pde6a |
A |
T |
18: 61,398,105 (GRCm39) |
M702L |
probably benign |
Het |
| Pigq |
A |
G |
17: 26,150,034 (GRCm39) |
|
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Ptch1 |
A |
C |
13: 63,670,818 (GRCm39) |
I904S |
probably damaging |
Het |
| Rflnb |
A |
T |
11: 75,912,964 (GRCm39) |
C141* |
probably null |
Het |
| Rilpl1 |
C |
A |
5: 124,652,807 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
T |
C |
14: 52,358,544 (GRCm39) |
S217P |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,397,586 (GRCm39) |
I1292F |
probably damaging |
Het |
| Sema3a |
A |
C |
5: 13,631,066 (GRCm39) |
Y534S |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,866,080 (GRCm39) |
Y736C |
probably damaging |
Het |
| Shank1 |
G |
T |
7: 43,983,464 (GRCm39) |
|
probably benign |
Het |
| Slc45a4 |
G |
A |
15: 73,458,691 (GRCm39) |
S294F |
probably benign |
Het |
| Slc9a8 |
A |
G |
2: 167,313,316 (GRCm39) |
I393V |
possibly damaging |
Het |
| Sod1 |
T |
A |
16: 90,019,732 (GRCm39) |
F46Y |
probably damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Syn3 |
T |
G |
10: 86,302,950 (GRCm39) |
K68N |
possibly damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,147 (GRCm39) |
V222I |
probably benign |
Het |
| Tbx20 |
T |
C |
9: 24,670,129 (GRCm39) |
K235E |
probably damaging |
Het |
| Tcaf3 |
C |
A |
6: 42,570,931 (GRCm39) |
E274* |
probably null |
Het |
| Tll1 |
A |
T |
8: 64,523,233 (GRCm39) |
M493K |
probably benign |
Het |
| Tmem236 |
T |
A |
2: 14,200,803 (GRCm39) |
S123T |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,238,963 (GRCm39) |
V647A |
possibly damaging |
Het |
| Tspear |
T |
A |
10: 77,705,489 (GRCm39) |
Y296N |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,015 (GRCm39) |
K1187E |
probably damaging |
Het |
| Xpot |
C |
T |
10: 121,453,083 (GRCm39) |
V52I |
probably benign |
Het |
| Zdhhc3 |
A |
T |
9: 122,929,452 (GRCm39) |
V61E |
probably damaging |
Het |
| Zfp955a |
A |
T |
17: 33,461,162 (GRCm39) |
C323* |
probably null |
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 |
|
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'- ACAGCCAGCAGGTTTGATTTTC -3'
(R):5'- TGTAATGCTACACAGGCAACC -3'
Sequencing Primer
(F):5'- CTTGAGAGCATTCTAGAGACTAACTG -3'
(R):5'- TATTTGACACAACATACCCTCATCTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation