Incidental Mutation 'R8709:Ankfy1'
| ID |
669450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
068563-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72646532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 805
(T805K)
|
| 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: T805K
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: T805K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (55/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,316 (GRCm39) |
S79P |
unknown |
Het |
| Aadacl4fm2 |
C |
G |
4: 144,281,863 (GRCm39) |
A310P |
probably damaging |
Het |
| Adamts20 |
T |
A |
15: 94,238,947 (GRCm39) |
D757V |
probably damaging |
Het |
| Adamts9 |
C |
T |
6: 92,784,144 (GRCm39) |
G1570D |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,077,642 (GRCm39) |
Y109C |
possibly damaging |
Het |
| Agl |
G |
A |
3: 116,566,121 (GRCm39) |
R335C |
|
Het |
| Cast |
A |
T |
13: 74,892,780 (GRCm39) |
V96E |
probably damaging |
Het |
| Cdh17 |
G |
T |
4: 11,795,685 (GRCm39) |
E422* |
probably null |
Het |
| Cox4i1 |
T |
A |
8: 121,396,110 (GRCm39) |
L21H |
possibly damaging |
Het |
| Cwc22 |
T |
C |
2: 77,726,694 (GRCm39) |
E795G |
probably benign |
Het |
| Cwf19l2 |
C |
A |
9: 3,430,723 (GRCm39) |
Q352K |
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,276 (GRCm39) |
V226A |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,414,757 (GRCm39) |
I53V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,674,476 (GRCm39) |
I434V |
probably benign |
Het |
| Dock8 |
C |
T |
19: 25,055,448 (GRCm39) |
Q137* |
probably null |
Het |
| Eif4b |
T |
G |
15: 102,002,116 (GRCm39) |
V515G |
unknown |
Het |
| Far2 |
T |
A |
6: 148,067,133 (GRCm39) |
N339K |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,829 (GRCm39) |
T98A |
probably damaging |
Het |
| Hamp2 |
A |
G |
7: 30,621,974 (GRCm39) |
C72R |
probably damaging |
Het |
| Hmgn1 |
G |
A |
16: 95,928,540 (GRCm39) |
P16S |
possibly damaging |
Het |
| Hspd1 |
A |
G |
1: 55,120,922 (GRCm39) |
S256P |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,162,372 (GRCm39) |
C522R |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,796,713 (GRCm39) |
H1147R |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,439,887 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,140,681 (GRCm39) |
W654R |
probably damaging |
Het |
| Krtap22-2 |
T |
A |
16: 88,807,514 (GRCm39) |
Y28F |
unknown |
Het |
| Lcp2 |
T |
A |
11: 34,004,354 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
T |
G |
7: 141,370,663 (GRCm39) |
L3225R |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,523,607 (GRCm39) |
E908G |
possibly damaging |
Het |
| Nup54 |
A |
G |
5: 92,570,267 (GRCm39) |
|
probably benign |
Het |
| Or1p1 |
T |
A |
11: 74,180,054 (GRCm39) |
I194N |
possibly damaging |
Het |
| Or4a74 |
C |
T |
2: 89,440,366 (GRCm39) |
V27I |
probably benign |
Het |
| Or51af1 |
T |
C |
7: 103,141,519 (GRCm39) |
T189A |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,671 (GRCm39) |
I228N |
probably damaging |
Het |
| Pak4 |
A |
C |
7: 28,261,969 (GRCm39) |
D453E |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,567 (GRCm39) |
T2120A |
|
Het |
| Pkhd1l1 |
T |
A |
15: 44,381,570 (GRCm39) |
S1099T |
probably benign |
Het |
| Pld2 |
C |
T |
11: 70,444,275 (GRCm39) |
R524W |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,951,832 (GRCm39) |
D1466E |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rp1l1 |
A |
C |
14: 64,269,295 (GRCm39) |
D1627A |
probably damaging |
Het |
| Sephs1 |
T |
C |
2: 4,889,402 (GRCm39) |
V60A |
probably benign |
Het |
| Sipa1 |
C |
T |
19: 5,710,980 (GRCm39) |
R10Q |
probably damaging |
Het |
| Sp4 |
T |
C |
12: 118,263,189 (GRCm39) |
T286A |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,192,738 (GRCm39) |
S23R |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,958,916 (GRCm39) |
N313K |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,772,975 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
A |
2: 26,835,817 (GRCm39) |
H217Q |
probably benign |
Het |
| Stxbp2 |
T |
A |
8: 3,683,914 (GRCm39) |
F104I |
possibly damaging |
Het |
| Tcf12 |
A |
G |
9: 71,765,787 (GRCm39) |
V575A |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,830,069 (GRCm39) |
S131T |
probably benign |
Het |
| Tg |
T |
A |
15: 66,553,786 (GRCm39) |
S400R |
probably benign |
Het |
| Tomm40 |
T |
C |
7: 19,444,703 (GRCm39) |
T200A |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,919,323 (GRCm39) |
E71G |
unknown |
Het |
| Zfp292 |
A |
T |
4: 34,805,982 (GRCm39) |
V2359E |
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 |
|
|
R8236:Ankfy1
|
UTSW |
11 |
72,645,181 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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'- TCATGAAACAGTGTGGTGGG -3'
(R):5'- TGGCAATAGGATAAGTTCTGCTG -3'
Sequencing Primer
(F):5'- GGAGAAGCTGCCAGTCATTTTTATG -3'
(R):5'- GCTGGACACTGACCTGCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation