Incidental Mutation 'R7410:Ankfy1'
ID |
575019 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankfy1
|
Ensembl Gene |
ENSMUSG00000020790 |
Gene Name |
ankyrin repeat and FYVE domain containing 1 |
Synonyms |
Ankhzn |
MMRRC Submission |
045491-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7410 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72652330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 1094
(L1094S)
|
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 damaging
Transcript: ENSMUST00000155998
AA Change: L1094S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118751 Gene: ENSMUSG00000020790 AA Change: L1094S
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: 99.6%
- 20x: 98.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210017I01Rik |
A |
G |
3: 92,512,551 (GRCm39) |
S3P |
unknown |
Het |
Adgrv1 |
A |
T |
13: 81,711,738 (GRCm39) |
D1079E |
probably benign |
Het |
Agbl5 |
A |
T |
5: 31,048,032 (GRCm39) |
Y102F |
possibly damaging |
Het |
Ankrd42 |
A |
T |
7: 92,259,762 (GRCm39) |
V337E |
possibly damaging |
Het |
Axl |
A |
G |
7: 25,458,208 (GRCm39) |
L849P |
probably benign |
Het |
Bmpr2 |
T |
C |
1: 59,907,652 (GRCm39) |
I915T |
probably benign |
Het |
Cables1 |
T |
A |
18: 12,074,282 (GRCm39) |
F494L |
probably benign |
Het |
Cacna1e |
A |
C |
1: 154,347,980 (GRCm39) |
V927G |
probably benign |
Het |
Cavin1 |
A |
T |
11: 100,849,670 (GRCm39) |
V320E |
probably damaging |
Het |
Cemip |
T |
G |
7: 83,602,042 (GRCm39) |
S916R |
probably damaging |
Het |
Cep57 |
G |
A |
9: 13,729,980 (GRCm39) |
|
probably benign |
Het |
Ces1d |
T |
C |
8: 93,919,433 (GRCm39) |
N120D |
probably damaging |
Het |
Cfap44 |
A |
T |
16: 44,288,776 (GRCm39) |
S1509C |
probably damaging |
Het |
Chga |
A |
G |
12: 102,528,866 (GRCm39) |
D281G |
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,423,920 (GRCm39) |
F282L |
probably benign |
Het |
Cnot1 |
A |
T |
8: 96,459,787 (GRCm39) |
V1855E |
possibly damaging |
Het |
Cnr1 |
T |
A |
4: 33,944,119 (GRCm39) |
V169D |
probably damaging |
Het |
Cpd |
T |
A |
11: 76,673,134 (GRCm39) |
H1337L |
probably damaging |
Het |
Crabp2 |
T |
A |
3: 87,859,585 (GRCm39) |
D78E |
probably damaging |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Cyp2ab1 |
G |
A |
16: 20,135,475 (GRCm39) |
A9V |
probably benign |
Het |
Cyp3a41b |
T |
C |
5: 145,514,967 (GRCm39) |
D86G |
probably damaging |
Het |
Dner |
T |
A |
1: 84,563,332 (GRCm39) |
D96V |
probably damaging |
Het |
Duox1 |
C |
A |
2: 122,176,874 (GRCm39) |
T1465N |
probably damaging |
Het |
Ehd3 |
T |
A |
17: 74,112,428 (GRCm39) |
V64E |
probably benign |
Het |
Ehmt1 |
A |
G |
2: 24,738,080 (GRCm39) |
V508A |
probably benign |
Het |
Ephb3 |
G |
A |
16: 21,040,158 (GRCm39) |
V761I |
possibly damaging |
Het |
Fam161b |
T |
C |
12: 84,404,575 (GRCm39) |
Q35R |
probably benign |
Het |
Fam186a |
T |
A |
15: 99,844,826 (GRCm39) |
K473* |
probably null |
Het |
Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
Fkbp15 |
C |
A |
4: 62,258,536 (GRCm39) |
D144Y |
probably damaging |
Het |
Galt |
T |
C |
4: 41,757,707 (GRCm39) |
I259T |
possibly damaging |
Het |
Gbp11 |
G |
A |
5: 105,491,774 (GRCm39) |
P8S |
probably damaging |
Het |
Gfap |
A |
T |
11: 102,783,963 (GRCm39) |
M339K |
probably damaging |
Het |
Gm14443 |
C |
T |
2: 175,011,069 (GRCm39) |
R459Q |
possibly damaging |
Het |
Grip1 |
A |
G |
10: 119,855,925 (GRCm39) |
N632S |
probably benign |
Het |
H4c18 |
G |
A |
13: 22,016,211 (GRCm39) |
R40W |
probably damaging |
Het |
Hcar1 |
T |
G |
5: 124,017,161 (GRCm39) |
I177L |
possibly damaging |
Het |
Ighv1-37 |
A |
G |
12: 114,860,099 (GRCm39) |
V37A |
probably damaging |
Het |
Ilf3 |
T |
A |
9: 21,311,100 (GRCm39) |
F657L |
unknown |
Het |
Ints2 |
T |
G |
11: 86,124,052 (GRCm39) |
T579P |
probably benign |
Het |
Iqgap1 |
G |
T |
7: 80,372,778 (GRCm39) |
Y1520* |
probably null |
Het |
Kdm4a |
T |
C |
4: 118,001,115 (GRCm39) |
H884R |
possibly damaging |
Het |
Krtap19-1 |
A |
T |
16: 88,666,132 (GRCm39) |
Y52N |
unknown |
Het |
Lama5 |
A |
T |
2: 179,844,183 (GRCm39) |
|
probably null |
Het |
Lrrc72 |
T |
C |
12: 36,272,803 (GRCm39) |
N89D |
probably damaging |
Het |
Med13l |
A |
G |
5: 118,698,897 (GRCm39) |
D16G |
possibly damaging |
Het |
Mefv |
A |
G |
16: 3,533,545 (GRCm39) |
L242P |
probably damaging |
Het |
Mob3c |
T |
C |
4: 115,688,784 (GRCm39) |
Y106H |
probably damaging |
Het |
Nlrp1a |
A |
G |
11: 71,014,683 (GRCm39) |
I189T |
probably damaging |
Het |
Nudt7 |
T |
C |
8: 114,860,559 (GRCm39) |
|
probably benign |
Het |
Or13p10 |
T |
C |
4: 118,523,629 (GRCm39) |
L305P |
probably benign |
Het |
Or4f7 |
T |
A |
2: 111,644,271 (GRCm39) |
I267L |
probably benign |
Het |
Pappa |
A |
G |
4: 65,253,956 (GRCm39) |
T1537A |
probably damaging |
Het |
Pik3r4 |
T |
A |
9: 105,527,790 (GRCm39) |
V381E |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,794,855 (GRCm39) |
Y2181N |
probably damaging |
Het |
Pmel |
G |
T |
10: 128,552,353 (GRCm39) |
V396F |
probably benign |
Het |
Prdm9 |
A |
G |
17: 15,765,259 (GRCm39) |
I507T |
possibly damaging |
Het |
Psme4 |
C |
T |
11: 30,765,279 (GRCm39) |
Q549* |
probably null |
Het |
Ptprg |
T |
A |
14: 11,962,657 (GRCm38) |
W152R |
probably damaging |
Het |
Ptprm |
A |
C |
17: 67,000,561 (GRCm39) |
V1141G |
probably damaging |
Het |
Rapgef5 |
G |
A |
12: 117,685,063 (GRCm39) |
V505M |
probably damaging |
Het |
Rnf213 |
T |
A |
11: 119,325,877 (GRCm39) |
M1558K |
|
Het |
Slc35a1 |
A |
G |
4: 34,675,034 (GRCm39) |
V168A |
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,096,693 (GRCm39) |
T347A |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,531,978 (GRCm39) |
V2745D |
probably benign |
Het |
Taar7e |
A |
T |
10: 23,914,424 (GRCm39) |
T305S |
probably benign |
Het |
Tie1 |
T |
C |
4: 118,337,074 (GRCm39) |
S551G |
probably benign |
Het |
Tmc5 |
T |
A |
7: 118,222,820 (GRCm39) |
Y173* |
probably null |
Het |
Tns2 |
T |
A |
15: 102,018,961 (GRCm39) |
V384D |
probably damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,014,890 (GRCm39) |
Y267N |
probably damaging |
Het |
Vmn1r53 |
A |
G |
6: 90,200,700 (GRCm39) |
V208A |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
T |
C |
14: 32,696,191 (GRCm39) |
D2784G |
|
Het |
Zfp712 |
A |
C |
13: 67,189,400 (GRCm39) |
S376A |
probably benign |
Het |
Znrf3 |
C |
T |
11: 5,238,955 (GRCm39) |
C232Y |
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 |
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'- ATGCCCTGCCAGTATTCTGC -3'
(R):5'- CAGGAGGCATAGTCAGTATGAC -3'
Sequencing Primer
(F):5'- CATCCTTTGGCTGCTGGGAAAC -3'
(R):5'- TCAGTATGACTAGCTGAGGTTTG -3'
|
Posted On |
2019-10-07 |