Incidental Mutation 'R7393:Ankfy1'
| ID |
573610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankfy1
|
| Ensembl Gene |
ENSMUSG00000020790 |
| Gene Name |
ankyrin repeat and FYVE domain containing 1 |
| Synonyms |
Ankhzn |
| MMRRC Submission |
045475-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72580832-72662972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72629134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 319
(T319A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127610]
[ENSMUST00000155998]
|
| AlphaFold |
Q810B6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127610
AA Change: T319A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118252
Gene: ENSMUSG00000020790
AA Change: T319A
| 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: T319A
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118751
Gene: ENSMUSG00000020790
AA Change: T319A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Abi2 |
T |
C |
1: 60,473,541 (GRCm39) |
M86T |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,725 (GRCm39) |
N255S |
probably benign |
Het |
| Adam4 |
G |
A |
12: 81,466,434 (GRCm39) |
S729L |
probably benign |
Het |
| Adcy1 |
G |
T |
11: 7,087,381 (GRCm39) |
W418C |
probably damaging |
Het |
| Add2 |
T |
A |
6: 86,075,629 (GRCm39) |
Y259* |
probably null |
Het |
| Agl |
A |
T |
3: 116,584,805 (GRCm39) |
C172S |
probably benign |
Het |
| Armc8 |
A |
T |
9: 99,366,052 (GRCm39) |
C621S |
possibly damaging |
Het |
| Atp5mj |
A |
G |
12: 111,929,711 (GRCm39) |
V26A |
probably benign |
Het |
| Bbc3 |
A |
G |
7: 16,047,714 (GRCm39) |
D146G |
probably benign |
Het |
| Btnl10 |
T |
C |
11: 58,814,532 (GRCm39) |
L404P |
probably damaging |
Het |
| Cbl |
A |
G |
9: 44,065,485 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
T |
A |
10: 4,464,314 (GRCm39) |
|
probably null |
Het |
| Ccdc91 |
T |
A |
6: 147,435,527 (GRCm39) |
V37E |
possibly damaging |
Het |
| Ces1e |
G |
T |
8: 93,937,045 (GRCm39) |
T343K |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,300,224 (GRCm39) |
F323I |
probably damaging |
Het |
| Clcnkb |
T |
A |
4: 141,136,756 (GRCm39) |
M370L |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,890,755 (GRCm39) |
D364G |
unknown |
Het |
| Ctbp2 |
A |
G |
7: 132,590,021 (GRCm39) |
I381T |
probably benign |
Het |
| Cyp4a29 |
A |
C |
4: 115,099,393 (GRCm39) |
Y38S |
probably damaging |
Het |
| Ddx1 |
T |
C |
12: 13,280,354 (GRCm39) |
D382G |
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,563,000 (GRCm39) |
N876Y |
probably damaging |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,435,598 (GRCm39) |
D262G |
probably benign |
Het |
| Fnbp4 |
C |
A |
2: 90,609,660 (GRCm39) |
Q1035K |
probably damaging |
Het |
| Gbp11 |
T |
A |
5: 105,475,443 (GRCm39) |
N302Y |
possibly damaging |
Het |
| Gm11554 |
T |
A |
11: 99,694,698 (GRCm39) |
T172S |
unknown |
Het |
| Hamp2 |
A |
T |
7: 30,622,030 (GRCm39) |
M53K |
possibly damaging |
Het |
| Kcnj1 |
A |
G |
9: 32,308,314 (GRCm39) |
D246G |
probably damaging |
Het |
| Kctd20 |
T |
C |
17: 29,182,312 (GRCm39) |
F209L |
probably damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,165 (GRCm39) |
Y148C |
probably damaging |
Het |
| Krtap15-1 |
T |
C |
16: 88,625,985 (GRCm39) |
|
probably null |
Het |
| Mrps23 |
T |
C |
11: 88,095,284 (GRCm39) |
L6P |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo7a |
G |
A |
7: 97,712,906 (GRCm39) |
R1690C |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,443,493 (GRCm39) |
S1183P |
probably damaging |
Het |
| Ndufaf4 |
T |
A |
4: 24,903,177 (GRCm39) |
M122K |
probably benign |
Het |
| Nop2 |
C |
A |
6: 125,110,509 (GRCm39) |
S45* |
probably null |
Het |
| Nop56 |
T |
A |
2: 130,116,558 (GRCm39) |
L3Q |
probably benign |
Het |
| Nrp2 |
T |
C |
1: 62,784,583 (GRCm39) |
I244T |
probably damaging |
Het |
| Or4d10c |
T |
A |
19: 12,065,992 (GRCm39) |
T55S |
probably benign |
Het |
| Or51v14 |
A |
G |
7: 103,261,198 (GRCm39) |
S121P |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,527,614 (GRCm39) |
D1941G |
probably benign |
Het |
| Pcyox1l |
T |
C |
18: 61,830,712 (GRCm39) |
K387E |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,306,564 (GRCm39) |
Y306C |
possibly damaging |
Het |
| Ppp1r13b |
G |
A |
12: 111,805,188 (GRCm39) |
P333S |
probably damaging |
Het |
| Rcc2 |
A |
G |
4: 140,444,341 (GRCm39) |
D344G |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,181,349 (GRCm39) |
N1810K |
probably damaging |
Het |
| Rfesd |
G |
T |
13: 76,151,149 (GRCm39) |
A90E |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,412,948 (GRCm39) |
K552E |
probably damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,667,872 (GRCm39) |
I190V |
probably benign |
Het |
| Sele |
C |
A |
1: 163,881,492 (GRCm39) |
T533K |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,072,170 (GRCm39) |
H339Q |
possibly damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,841,093 (GRCm39) |
S106P |
probably benign |
Het |
| Spidr |
C |
T |
16: 15,964,695 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
A |
T |
1: 74,650,352 (GRCm39) |
K295* |
probably null |
Het |
| Synj1 |
A |
T |
16: 90,748,887 (GRCm39) |
D1056E |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,893,210 (GRCm39) |
S1046P |
probably benign |
Het |
| Ttc27 |
T |
G |
17: 75,077,259 (GRCm39) |
F385V |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,774,689 (GRCm39) |
G2164W |
unknown |
Het |
| Ubap1 |
T |
A |
4: 41,379,764 (GRCm39) |
L326* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,154,096 (GRCm39) |
N812S |
probably damaging |
Het |
| Vmn1r160 |
A |
G |
7: 22,570,778 (GRCm39) |
T44A |
possibly damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,574 (GRCm39) |
S139N |
possibly damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,099 (GRCm39) |
I137M |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,805,086 (GRCm39) |
W9R |
probably null |
Het |
| Zfp101 |
T |
C |
17: 33,605,674 (GRCm39) |
N45D |
possibly 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 |
|
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'- GGTTTCCACCATCCAAGACC -3'
(R):5'- GTGTATGTTTATTATGTGCCACCAC -3'
Sequencing Primer
(F):5'- TGCTTCAGAAGTCCCAGCTG -3'
(R):5'- GCCACCACAAAAATTCTCTTTTGGAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation