Incidental Mutation 'R0787:Ankfy1'
| ID |
76912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
038967-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0787 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72690006-72772146 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72760296 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1024
(I1024N)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000132889
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147195
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155998
AA Change: I1024N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: I1024N
| 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 |
0.9065 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001F09Rik |
A |
T |
14: 43,345,493 (GRCm38) |
|
probably null |
Het |
| Abca8a |
T |
A |
11: 110,042,988 (GRCm38) |
Y1197F |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,798,516 (GRCm38) |
|
probably null |
Het |
| Adamts16 |
A |
T |
13: 70,738,829 (GRCm38) |
C979S |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 127,085,150 (GRCm38) |
D523E |
unknown |
Het |
| Ankrd13c |
A |
G |
3: 157,994,678 (GRCm38) |
S379G |
probably null |
Het |
| Arhgap40 |
T |
C |
2: 158,547,790 (GRCm38) |
S625P |
probably benign |
Het |
| Armc12 |
G |
C |
17: 28,538,766 (GRCm38) |
A291P |
probably damaging |
Het |
| Armc9 |
A |
G |
1: 86,202,505 (GRCm38) |
N524D |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,638,485 (GRCm38) |
T2305K |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,047,635 (GRCm38) |
N277S |
probably benign |
Het |
| Czib |
T |
A |
4: 107,890,129 (GRCm38) |
L6Q |
probably damaging |
Het |
| E130311K13Rik |
A |
T |
3: 63,920,298 (GRCm38) |
V129E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,722,668 (GRCm38) |
D79G |
possibly damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,494,090 (GRCm38) |
E58G |
probably damaging |
Het |
| Fam217b |
T |
A |
2: 178,420,909 (GRCm38) |
V222E |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,040,555 (GRCm38) |
Y3913N |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,423,901 (GRCm38) |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,106,446 (GRCm38) |
D759V |
probably damaging |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,569,499 (GRCm38) |
|
probably benign |
Het |
| Isg15 |
C |
T |
4: 156,199,939 (GRCm38) |
R44H |
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,279,153 (GRCm38) |
T232I |
probably benign |
Het |
| Kntc1 |
C |
A |
5: 123,796,104 (GRCm38) |
H1399Q |
probably benign |
Het |
| Lig1 |
A |
C |
7: 13,299,069 (GRCm38) |
K499Q |
probably benign |
Het |
| Lrrn3 |
C |
A |
12: 41,454,231 (GRCm38) |
C29F |
probably damaging |
Het |
| Mtmr10 |
T |
C |
7: 64,300,615 (GRCm38) |
I136T |
possibly damaging |
Het |
| Naip1 |
A |
G |
13: 100,426,096 (GRCm38) |
Y854H |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 129,133,526 (GRCm38) |
N81D |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,886,757 (GRCm38) |
A659V |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,615,630 (GRCm38) |
|
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,334,549 (GRCm38) |
V83A |
probably damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,690,523 (GRCm38) |
M326K |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,717,638 (GRCm38) |
L287Q |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,076,177 (GRCm38) |
D235G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,529,264 (GRCm38) |
P1665Q |
probably damaging |
Het |
| Ppp1r7 |
A |
G |
1: 93,364,956 (GRCm38) |
T326A |
probably damaging |
Het |
| Prr22 |
A |
T |
17: 56,771,072 (GRCm38) |
Y75F |
possibly damaging |
Het |
| Ptov1 |
A |
C |
7: 44,865,470 (GRCm38) |
|
probably null |
Het |
| Rasal2 |
A |
G |
1: 157,158,696 (GRCm38) |
S766P |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,792,976 (GRCm38) |
T337A |
probably benign |
Het |
| St5 |
G |
T |
7: 109,525,620 (GRCm38) |
R1068S |
possibly damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,449,209 (GRCm38) |
I1168N |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,946,343 (GRCm38) |
V1126A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 50,829,230 (GRCm38) |
S2304T |
possibly damaging |
Het |
| Tiam1 |
C |
A |
16: 89,789,561 (GRCm38) |
R1446M |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,370,484 (GRCm38) |
I425V |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,951,421 (GRCm38) |
|
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,381,763 (GRCm38) |
|
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,156,847 (GRCm38) |
S573P |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 101,957,388 (GRCm38) |
V191E |
probably damaging |
Het |
| Zdhhc3 |
A |
T |
9: 123,083,623 (GRCm38) |
C153* |
probably null |
Het |
| Zfp407 |
A |
T |
18: 84,209,022 (GRCm38) |
V2154D |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,209,346 (GRCm38) |
V2046A |
probably benign |
Het |
| Zfr |
T |
A |
15: 12,140,548 (GRCm38) |
I227N |
unknown |
Het |
|
| Other mutations in Ankfy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00775:Ankfy1
|
APN |
11 |
72,728,772 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL00837:Ankfy1
|
APN |
11 |
72,755,898 (GRCm38) |
splice site |
probably benign |
|
|
IGL01061:Ankfy1
|
APN |
11 |
72,728,860 (GRCm38) |
nonsense |
probably null |
|
|
IGL01305:Ankfy1
|
APN |
11 |
72,764,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01599:Ankfy1
|
APN |
11 |
72,738,365 (GRCm38) |
missense |
probably benign |
|
|
IGL01918:Ankfy1
|
APN |
11 |
72,740,455 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL03007:Ankfy1
|
APN |
11 |
72,750,521 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03134:Ankfy1
|
APN |
11 |
72,712,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03182:Ankfy1
|
APN |
11 |
72,728,754 (GRCm38) |
splice site |
probably benign |
|
|
Betruenken
|
UTSW |
11 |
72,753,608 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
Inebriated
|
UTSW |
11 |
72,752,105 (GRCm38) |
missense |
probably benign |
|
|
Smashed
|
UTSW |
11 |
72,712,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
woozy
|
UTSW |
11 |
72,754,459 (GRCm38) |
missense |
probably benign |
0.33 |
|
ANU22:Ankfy1
|
UTSW |
11 |
72,764,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
I2289:Ankfy1
|
UTSW |
11 |
72,730,485 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0062:Ankfy1
|
UTSW |
11 |
72,712,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0062:Ankfy1
|
UTSW |
11 |
72,712,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0569:Ankfy1
|
UTSW |
11 |
72,753,608 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1303:Ankfy1
|
UTSW |
11 |
72,750,071 (GRCm38) |
splice site |
probably null |
|
|
R1522:Ankfy1
|
UTSW |
11 |
72,755,867 (GRCm38) |
nonsense |
probably null |
|
|
R1552:Ankfy1
|
UTSW |
11 |
72,754,495 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1565:Ankfy1
|
UTSW |
11 |
72,757,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1899:Ankfy1
|
UTSW |
11 |
72,754,407 (GRCm38) |
nonsense |
probably null |
|
|
R1900:Ankfy1
|
UTSW |
11 |
72,754,407 (GRCm38) |
nonsense |
probably null |
|
|
R1950:Ankfy1
|
UTSW |
11 |
72,760,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2421:Ankfy1
|
UTSW |
11 |
72,755,896 (GRCm38) |
splice site |
probably benign |
|
|
R3429:Ankfy1
|
UTSW |
11 |
72,712,154 (GRCm38) |
splice site |
probably benign |
|
|
R3801:Ankfy1
|
UTSW |
11 |
72,749,420 (GRCm38) |
missense |
probably benign |
|
|
R4079:Ankfy1
|
UTSW |
11 |
72,690,009 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4119:Ankfy1
|
UTSW |
11 |
72,714,484 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4120:Ankfy1
|
UTSW |
11 |
72,714,484 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4165:Ankfy1
|
UTSW |
11 |
72,714,484 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4233:Ankfy1
|
UTSW |
11 |
72,714,484 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4234:Ankfy1
|
UTSW |
11 |
72,714,484 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4236:Ankfy1
|
UTSW |
11 |
72,714,484 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4735:Ankfy1
|
UTSW |
11 |
72,730,611 (GRCm38) |
missense |
probably benign |
|
|
R4765:Ankfy1
|
UTSW |
11 |
72,712,291 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4904:Ankfy1
|
UTSW |
11 |
72,752,105 (GRCm38) |
missense |
probably benign |
|
|
R5057:Ankfy1
|
UTSW |
11 |
72,759,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5454:Ankfy1
|
UTSW |
11 |
72,746,931 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5471:Ankfy1
|
UTSW |
11 |
72,728,791 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5737:Ankfy1
|
UTSW |
11 |
72,732,274 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5770:Ankfy1
|
UTSW |
11 |
72,760,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5896:Ankfy1
|
UTSW |
11 |
72,759,985 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5930:Ankfy1
|
UTSW |
11 |
72,712,245 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5960:Ankfy1
|
UTSW |
11 |
72,757,352 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6169:Ankfy1
|
UTSW |
11 |
72,754,459 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6176:Ankfy1
|
UTSW |
11 |
72,754,459 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6177:Ankfy1
|
UTSW |
11 |
72,754,459 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6178:Ankfy1
|
UTSW |
11 |
72,754,459 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6477:Ankfy1
|
UTSW |
11 |
72,730,482 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6513:Ankfy1
|
UTSW |
11 |
72,730,482 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6521:Ankfy1
|
UTSW |
11 |
72,730,482 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6523:Ankfy1
|
UTSW |
11 |
72,730,482 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6524:Ankfy1
|
UTSW |
11 |
72,730,482 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R7006:Ankfy1
|
UTSW |
11 |
72,740,464 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7329:Ankfy1
|
UTSW |
11 |
72,712,208 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7393:Ankfy1
|
UTSW |
11 |
72,738,308 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7410:Ankfy1
|
UTSW |
11 |
72,761,504 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7488:Ankfy1
|
UTSW |
11 |
72,759,943 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7731:Ankfy1
|
UTSW |
11 |
72,712,281 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7810:Ankfy1
|
UTSW |
11 |
72,754,455 (GRCm38) |
nonsense |
probably null |
|
|
R8236:Ankfy1
|
UTSW |
11 |
72,754,355 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8709:Ankfy1
|
UTSW |
11 |
72,755,706 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8717:Ankfy1
|
UTSW |
11 |
72,730,474 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8839:Ankfy1
|
UTSW |
11 |
72,730,566 (GRCm38) |
missense |
probably benign |
0.39 |
|
R8862:Ankfy1
|
UTSW |
11 |
72,753,643 (GRCm38) |
missense |
probably benign |
0.18 |
|
R8954:Ankfy1
|
UTSW |
11 |
72,750,491 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9548:Ankfy1
|
UTSW |
11 |
72,750,179 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9762:Ankfy1
|
UTSW |
11 |
72,730,575 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCAGGGTCTCTATGACTTAGCC -3'
(R):5'- CACATTTCCTAGAGCCTCCCGAATC -3'
Sequencing Primer
(F):5'- GCACCTCAGCAGCTTTTGG -3'
(R):5'- AGGTTCCAATGTGAAGGTCTAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation