Incidental Mutation 'R9548:Ankfy1'
| ID |
720256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 72641005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably null
Transcript: ENSMUST00000155998
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
| 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: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid1b |
A |
G |
17: 5,385,262 (GRCm39) |
Y1340C |
probably damaging |
Het |
| Bcl2 |
C |
A |
1: 106,640,508 (GRCm39) |
A35S |
probably benign |
Het |
| Brf2 |
A |
T |
8: 27,614,623 (GRCm39) |
S188T |
probably benign |
Het |
| Carmil1 |
C |
A |
13: 24,460,516 (GRCm39) |
G21V |
probably damaging |
Het |
| Cavin4 |
T |
C |
4: 48,663,956 (GRCm39) |
V112A |
probably benign |
Het |
| Cd300lf |
T |
C |
11: 115,007,858 (GRCm39) |
E319G |
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,661,832 (GRCm39) |
D587E |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,438,040 (GRCm39) |
T239S |
possibly damaging |
Het |
| Cma2 |
A |
C |
14: 56,211,256 (GRCm39) |
I239L |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,482,854 (GRCm39) |
M733K |
probably benign |
Het |
| Cyp2f2 |
A |
G |
7: 26,829,170 (GRCm39) |
D225G |
probably benign |
Het |
| Cyp4f40 |
G |
A |
17: 32,890,158 (GRCm39) |
R276H |
probably benign |
Het |
| Cytip |
A |
T |
2: 58,041,141 (GRCm39) |
F88L |
probably damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,776 (GRCm39) |
N95S |
probably damaging |
Het |
| Dnah5 |
C |
A |
15: 28,328,025 (GRCm39) |
T2133K |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
G |
A |
5: 9,490,859 (GRCm39) |
G623D |
probably damaging |
Het |
| Epn2 |
A |
T |
11: 61,436,988 (GRCm39) |
S195T |
probably benign |
Het |
| Exoc3 |
A |
T |
13: 74,330,285 (GRCm39) |
Y521N |
possibly damaging |
Het |
| Fbxo10 |
C |
A |
4: 45,058,970 (GRCm39) |
V256L |
probably damaging |
Het |
| Fis1 |
A |
T |
5: 136,991,907 (GRCm39) |
T34S |
probably benign |
Het |
| Gm10309 |
A |
T |
17: 86,806,161 (GRCm39) |
C118S |
unknown |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hook1 |
T |
A |
4: 95,891,808 (GRCm39) |
V340E |
probably damaging |
Het |
| Ifng |
C |
A |
10: 118,277,128 (GRCm39) |
H23Q |
probably benign |
Het |
| Lect2 |
C |
T |
13: 56,694,660 (GRCm39) |
E32K |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,388,733 (GRCm39) |
T3239P |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,996 (GRCm39) |
Y28F |
probably benign |
Het |
| Maml3 |
A |
T |
3: 51,763,791 (GRCm39) |
V391E |
possibly damaging |
Het |
| Map3k8 |
C |
T |
18: 4,349,141 (GRCm39) |
R59H |
probably benign |
Het |
| Med1 |
G |
T |
11: 98,070,884 (GRCm39) |
L120I |
possibly damaging |
Het |
| Muc5b |
C |
A |
7: 141,421,648 (GRCm39) |
H4349N |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,499,154 (GRCm39) |
P110S |
probably benign |
Het |
| Nol10 |
T |
G |
12: 17,466,144 (GRCm39) |
I513S |
possibly damaging |
Het |
| Nphs1 |
C |
T |
7: 30,180,875 (GRCm39) |
S1093F |
probably benign |
Het |
| Or12e10 |
A |
T |
2: 87,641,097 (GRCm39) |
N311I |
probably damaging |
Het |
| Or4b1b |
T |
C |
2: 90,111,991 (GRCm39) |
*309W |
probably null |
Het |
| Or56b1b |
A |
T |
7: 108,164,334 (GRCm39) |
S223T |
possibly damaging |
Het |
| Or5p72 |
A |
T |
7: 108,022,416 (GRCm39) |
T213S |
possibly damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,685,402 (GRCm39) |
Y623F |
possibly damaging |
Het |
| Pdzd8 |
T |
A |
19: 59,289,826 (GRCm39) |
I525F |
probably benign |
Het |
| Peak1 |
G |
T |
9: 56,113,917 (GRCm39) |
Q1675K |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,302,290 (GRCm39) |
V278A |
probably benign |
Het |
| Ppp2r5d |
G |
A |
17: 46,998,527 (GRCm39) |
R115C |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,574,690 (GRCm39) |
L635Q |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,440,692 (GRCm39) |
T913A |
probably benign |
Het |
| Sh3bp1 |
A |
T |
15: 78,788,673 (GRCm39) |
I233F |
possibly damaging |
Het |
| Skint9 |
T |
G |
4: 112,276,346 (GRCm39) |
L8F |
probably benign |
Het |
| Slc1a4 |
A |
T |
11: 20,258,041 (GRCm39) |
N360K |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,460,865 (GRCm39) |
Y243* |
probably null |
Het |
| Slc22a19 |
C |
A |
19: 7,659,219 (GRCm39) |
|
probably null |
Het |
| Smarcal1 |
T |
C |
1: 72,671,999 (GRCm39) |
I840T |
possibly damaging |
Het |
| Spata13 |
A |
G |
14: 60,991,303 (GRCm39) |
K1019E |
possibly damaging |
Het |
| Steap1 |
A |
G |
5: 5,790,700 (GRCm39) |
S83P |
possibly damaging |
Het |
| Synj2bp |
T |
C |
12: 81,551,382 (GRCm39) |
H78R |
probably damaging |
Het |
| Tcstv7a |
T |
A |
13: 120,289,924 (GRCm39) |
I91F |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,113,833 (GRCm39) |
E475G |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,644,768 (GRCm39) |
V312A |
probably benign |
Het |
| Traip |
C |
A |
9: 107,833,099 (GRCm39) |
T45N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,573,691 (GRCm39) |
Y25734C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 102,977,495 (GRCm39) |
V166D |
probably damaging |
Het |
| Urgcp |
C |
A |
11: 5,667,622 (GRCm39) |
V282F |
possibly damaging |
Het |
| Vmn1r184 |
G |
A |
7: 25,966,734 (GRCm39) |
S160N |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,033,059 (GRCm39) |
D2231G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,401,323 (GRCm39) |
G4132D |
unknown |
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 |
|
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 |
|
R9762:Ankfy1
|
UTSW |
11 |
72,621,401 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTTAAATGTGACCCAAGG -3'
(R):5'- GTTCCCCTGACGACAAACAG -3'
Sequencing Primer
(F):5'- AGGGCTACCAGTGAGACCATTTTC -3'
(R):5'- GACCCTCGACGCTTCTCCAAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation