Incidental Mutation 'R5028:Ano5'
| ID |
391507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano5
|
| Ensembl Gene |
ENSMUSG00000055489 |
| Gene Name |
anoctamin 5 |
| Synonyms |
Tmem16e, Gdd1 |
| MMRRC Submission |
042619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5028 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
51160777-51248457 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 51187458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043944]
[ENSMUST00000043944]
[ENSMUST00000207044]
[ENSMUST00000207044]
[ENSMUST00000207717]
[ENSMUST00000207717]
|
| AlphaFold |
Q75UR0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043944
|
| SMART Domains |
Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
55 |
N/A |
INTRINSIC |
|
Pfam:Anoct_dimer
|
64 |
280 |
7.7e-70 |
PFAM |
|
Pfam:Anoctamin
|
283 |
860 |
6.5e-138 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000043944
|
| SMART Domains |
Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
55 |
N/A |
INTRINSIC |
|
Pfam:Anoct_dimer
|
64 |
280 |
7.7e-70 |
PFAM |
|
Pfam:Anoctamin
|
283 |
860 |
6.5e-138 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207044
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207044
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207717
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207717
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
97% (62/64) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to have little anion conductance activity. Elevated levels of this protein were found in dystrophic mice. In humans, mutations of this gene are associated with with musculoskeletal disorders such as myopathies, muscular dystrophy and gnathodiaphyseal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,104,356 (GRCm39) |
S777C |
probably damaging |
Het |
| Arhgap17 |
T |
A |
7: 122,893,896 (GRCm39) |
H508L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,803,709 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,624,435 (GRCm39) |
F961S |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,975 (GRCm39) |
P497Q |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,834,568 (GRCm39) |
S364P |
probably damaging |
Het |
| Ccdc150 |
C |
A |
1: 54,302,636 (GRCm39) |
D85E |
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,613,930 (GRCm39) |
Y291H |
probably benign |
Het |
| Comp |
A |
C |
8: 70,829,290 (GRCm39) |
N289T |
probably damaging |
Het |
| Cops3 |
T |
A |
11: 59,708,856 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
G |
A |
10: 43,874,208 (GRCm39) |
H967Y |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,039,090 (GRCm39) |
F2423I |
probably damaging |
Het |
| Dact1 |
C |
A |
12: 71,365,347 (GRCm39) |
C709* |
probably null |
Het |
| Dcxr |
T |
G |
11: 120,617,273 (GRCm39) |
Q90P |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,043,349 (GRCm39) |
Y494C |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,727 (GRCm39) |
E333G |
possibly damaging |
Het |
| Eml2 |
T |
C |
7: 18,913,372 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
A |
15: 99,178,682 (GRCm39) |
M215L |
probably damaging |
Het |
| Gm17078 |
T |
A |
14: 51,848,699 (GRCm39) |
R13W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,499,206 (GRCm39) |
F196S |
possibly damaging |
Het |
| Ier5 |
A |
G |
1: 154,974,849 (GRCm39) |
S110P |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,982,049 (GRCm39) |
I793F |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,646,176 (GRCm39) |
I643T |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,750,969 (GRCm39) |
L794Q |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,158,935 (GRCm39) |
M36L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,875,855 (GRCm39) |
L693Q |
probably damaging |
Het |
| Mup4 |
T |
A |
4: 59,958,124 (GRCm39) |
E148V |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,545,057 (GRCm39) |
N162S |
possibly damaging |
Het |
| Nlgn2 |
T |
C |
11: 69,718,563 (GRCm39) |
D339G |
probably benign |
Het |
| Nucks1 |
C |
T |
1: 131,855,840 (GRCm39) |
R90C |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,196 (GRCm39) |
V229A |
probably damaging |
Het |
| Or5an9 |
T |
A |
19: 12,187,518 (GRCm39) |
V196E |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,739,723 (GRCm39) |
D24V |
probably damaging |
Het |
| Prpf4b |
C |
T |
13: 35,083,958 (GRCm39) |
P909L |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,132,485 (GRCm39) |
K116* |
probably null |
Het |
| Ror1 |
A |
G |
4: 100,269,133 (GRCm39) |
T324A |
possibly damaging |
Het |
| Slc24a4 |
G |
A |
12: 102,230,629 (GRCm39) |
G505R |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,702 (GRCm39) |
I112T |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,314 (GRCm39) |
S69G |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,458,447 (GRCm39) |
E429D |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,663,312 (GRCm39) |
D116G |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,985,246 (GRCm39) |
V154E |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,205 (GRCm39) |
W357* |
probably null |
Het |
| Tmem177 |
T |
A |
1: 119,838,419 (GRCm39) |
T87S |
probably benign |
Het |
| Treh |
A |
T |
9: 44,594,186 (GRCm39) |
E144V |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,764,124 (GRCm39) |
D243E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,365 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,530 (GRCm39) |
W248* |
probably null |
Het |
| Yap1 |
T |
C |
9: 8,001,690 (GRCm39) |
T99A |
probably benign |
Het |
| Zbtb8b |
C |
A |
4: 129,326,793 (GRCm39) |
C91F |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 72,668,498 (GRCm39) |
T442A |
possibly damaging |
Het |
| Zxdc |
G |
T |
6: 90,359,320 (GRCm39) |
G651C |
probably benign |
Het |
|
| Other mutations in Ano5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00653:Ano5
|
APN |
7 |
51,216,261 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01328:Ano5
|
APN |
7 |
51,206,019 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01800:Ano5
|
APN |
7 |
51,222,823 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01888:Ano5
|
APN |
7 |
51,216,048 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02221:Ano5
|
APN |
7 |
51,220,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Ano5
|
APN |
7 |
51,233,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Ano5
|
APN |
7 |
51,216,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03133:Ano5
|
APN |
7 |
51,226,260 (GRCm39) |
nonsense |
probably null |
|
|
IGL03167:Ano5
|
APN |
7 |
51,235,259 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03233:Ano5
|
APN |
7 |
51,220,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:Ano5
|
UTSW |
7 |
51,194,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Ano5
|
UTSW |
7 |
51,185,218 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0233:Ano5
|
UTSW |
7 |
51,185,218 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0675:Ano5
|
UTSW |
7 |
51,224,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Ano5
|
UTSW |
7 |
51,237,506 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0764:Ano5
|
UTSW |
7 |
51,187,590 (GRCm39) |
splice site |
probably benign |
|
|
R1159:Ano5
|
UTSW |
7 |
51,229,222 (GRCm39) |
splice site |
probably benign |
|
|
R1218:Ano5
|
UTSW |
7 |
51,220,169 (GRCm39) |
splice site |
probably null |
|
|
R1288:Ano5
|
UTSW |
7 |
51,196,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1329:Ano5
|
UTSW |
7 |
51,196,533 (GRCm39) |
missense |
probably benign |
|
|
R1484:Ano5
|
UTSW |
7 |
51,216,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Ano5
|
UTSW |
7 |
51,233,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Ano5
|
UTSW |
7 |
51,229,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1691:Ano5
|
UTSW |
7 |
51,240,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1859:Ano5
|
UTSW |
7 |
51,196,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Ano5
|
UTSW |
7 |
51,187,561 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2066:Ano5
|
UTSW |
7 |
51,235,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2088:Ano5
|
UTSW |
7 |
51,237,454 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2103:Ano5
|
UTSW |
7 |
51,187,561 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2248:Ano5
|
UTSW |
7 |
51,243,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3692:Ano5
|
UTSW |
7 |
51,240,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3723:Ano5
|
UTSW |
7 |
51,226,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3805:Ano5
|
UTSW |
7 |
51,226,398 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3883:Ano5
|
UTSW |
7 |
51,216,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3978:Ano5
|
UTSW |
7 |
51,237,554 (GRCm39) |
missense |
probably benign |
|
|
R4035:Ano5
|
UTSW |
7 |
51,216,233 (GRCm39) |
splice site |
probably benign |
|
|
R4239:Ano5
|
UTSW |
7 |
51,237,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4466:Ano5
|
UTSW |
7 |
51,220,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4644:Ano5
|
UTSW |
7 |
51,237,433 (GRCm39) |
nonsense |
probably null |
|
|
R5021:Ano5
|
UTSW |
7 |
51,205,933 (GRCm39) |
missense |
probably benign |
|
|
R5609:Ano5
|
UTSW |
7 |
51,243,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Ano5
|
UTSW |
7 |
51,233,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5660:Ano5
|
UTSW |
7 |
51,233,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5680:Ano5
|
UTSW |
7 |
51,233,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5786:Ano5
|
UTSW |
7 |
51,216,066 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5787:Ano5
|
UTSW |
7 |
51,216,066 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5788:Ano5
|
UTSW |
7 |
51,216,066 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5856:Ano5
|
UTSW |
7 |
51,235,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5930:Ano5
|
UTSW |
7 |
51,235,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5984:Ano5
|
UTSW |
7 |
51,243,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6015:Ano5
|
UTSW |
7 |
51,224,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6030:Ano5
|
UTSW |
7 |
51,224,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Ano5
|
UTSW |
7 |
51,224,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Ano5
|
UTSW |
7 |
51,215,879 (GRCm39) |
splice site |
probably null |
|
|
R7552:Ano5
|
UTSW |
7 |
51,196,528 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7559:Ano5
|
UTSW |
7 |
51,224,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Ano5
|
UTSW |
7 |
51,240,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Ano5
|
UTSW |
7 |
51,222,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7805:Ano5
|
UTSW |
7 |
51,187,548 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7808:Ano5
|
UTSW |
7 |
51,237,543 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7840:Ano5
|
UTSW |
7 |
51,237,480 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7886:Ano5
|
UTSW |
7 |
51,220,141 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7975:Ano5
|
UTSW |
7 |
51,216,286 (GRCm39) |
missense |
probably null |
0.98 |
|
R8006:Ano5
|
UTSW |
7 |
51,243,518 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8060:Ano5
|
UTSW |
7 |
51,237,531 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8084:Ano5
|
UTSW |
7 |
51,229,287 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8351:Ano5
|
UTSW |
7 |
51,203,626 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8504:Ano5
|
UTSW |
7 |
51,222,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8699:Ano5
|
UTSW |
7 |
51,243,519 (GRCm39) |
missense |
probably benign |
|
|
R8710:Ano5
|
UTSW |
7 |
51,243,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Ano5
|
UTSW |
7 |
51,196,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8771:Ano5
|
UTSW |
7 |
51,220,047 (GRCm39) |
nonsense |
probably null |
|
|
R8771:Ano5
|
UTSW |
7 |
51,216,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8815:Ano5
|
UTSW |
7 |
51,194,548 (GRCm39) |
nonsense |
probably null |
|
|
R9057:Ano5
|
UTSW |
7 |
51,203,654 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9118:Ano5
|
UTSW |
7 |
51,220,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9217:Ano5
|
UTSW |
7 |
51,243,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Ano5
|
UTSW |
7 |
51,235,200 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9699:Ano5
|
UTSW |
7 |
51,229,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Ano5
|
UTSW |
7 |
51,243,399 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Ano5
|
UTSW |
7 |
51,226,376 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Ano5
|
UTSW |
7 |
51,224,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCTTCCTGAGTAGGTATC -3'
(R):5'- GCTCAGTATGCTCTCAATCAGC -3'
Sequencing Primer
(F):5'- TCCTGAGTAGGTATCGTTTAATCC -3'
(R):5'- AATCAGCTCTGTCTACACCG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation