Incidental Mutation 'R2248:Ano5'
| ID |
240951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano5
|
| Ensembl Gene |
ENSMUSG00000055489 |
| Gene Name |
anoctamin 5 |
| Synonyms |
Tmem16e, Gdd1 |
| MMRRC Submission |
040248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R2248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
51160777-51248457 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51243537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 837
(M837L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043944]
[ENSMUST00000207044]
[ENSMUST00000207717]
|
| AlphaFold |
Q75UR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043944
AA Change: M887L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: M887L
| 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 benign
Transcript: ENSMUST00000207044
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207717
AA Change: M837L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,323,476 (GRCm39) |
|
probably benign |
Het |
| Afp |
A |
G |
5: 90,649,429 (GRCm39) |
D332G |
probably damaging |
Het |
| AI593442 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
9: 52,589,114 (GRCm39) |
|
probably benign |
Het |
| Aldh1a2 |
A |
T |
9: 71,123,144 (GRCm39) |
I6F |
possibly damaging |
Het |
| Alg6 |
C |
T |
4: 99,626,444 (GRCm39) |
A84V |
probably damaging |
Het |
| Ank |
T |
A |
15: 27,562,797 (GRCm39) |
|
probably null |
Het |
| Arl8b |
A |
G |
6: 108,760,304 (GRCm39) |
Y30C |
probably benign |
Het |
| Bfsp1 |
A |
T |
2: 143,669,572 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
C |
G |
14: 36,803,334 (GRCm39) |
V581L |
probably benign |
Het |
| Chst8 |
G |
T |
7: 34,447,597 (GRCm39) |
T7K |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,530,980 (GRCm39) |
K790R |
probably benign |
Het |
| Clta |
A |
G |
4: 44,012,852 (GRCm39) |
N21D |
probably damaging |
Het |
| Col6a4 |
T |
G |
9: 105,957,158 (GRCm39) |
E222A |
probably benign |
Het |
| Dcc |
G |
T |
18: 71,959,239 (GRCm39) |
Q178K |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,491,358 (GRCm39) |
D140G |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,007,243 (GRCm39) |
D648V |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,628,213 (GRCm39) |
N18S |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,451,400 (GRCm39) |
H1538R |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,162,815 (GRCm39) |
E362G |
probably benign |
Het |
| Frk |
C |
A |
10: 34,484,527 (GRCm39) |
T500K |
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,898,192 (GRCm39) |
E99G |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,501,595 (GRCm39) |
L120P |
probably damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,805 (GRCm39) |
S449P |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,730,379 (GRCm39) |
I1655F |
possibly damaging |
Het |
| Hectd1 |
G |
T |
12: 51,853,254 (GRCm39) |
T89N |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,875,226 (GRCm39) |
I1756S |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,304,835 (GRCm39) |
R3825L |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,564,036 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
A |
T |
17: 27,334,033 (GRCm39) |
E2035V |
probably damaging |
Het |
| Khnyn |
T |
A |
14: 56,124,195 (GRCm39) |
S150T |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,100,704 (GRCm39) |
I1595T |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,242,607 (GRCm39) |
T230S |
possibly damaging |
Het |
| Limch1 |
G |
T |
5: 67,201,742 (GRCm39) |
G838V |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,341,354 (GRCm39) |
D942V |
probably damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,744,050 (GRCm39) |
T153S |
possibly damaging |
Het |
| Mal2 |
T |
A |
15: 54,451,732 (GRCm39) |
I51N |
probably damaging |
Het |
| Matcap2 |
A |
G |
9: 22,355,410 (GRCm39) |
T482A |
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,407,295 (GRCm39) |
Q385L |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,532,088 (GRCm39) |
D2117V |
probably damaging |
Het |
| Ntn1 |
T |
C |
11: 68,168,398 (GRCm39) |
N353S |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,940,926 (GRCm39) |
E289G |
possibly damaging |
Het |
| Or2m13 |
A |
G |
16: 19,225,944 (GRCm39) |
V274A |
probably damaging |
Het |
| Or4a81 |
C |
A |
2: 89,619,524 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5w17 |
T |
C |
2: 87,584,287 (GRCm39) |
I17V |
probably null |
Het |
| Plk1 |
A |
G |
7: 121,768,044 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
G |
A |
5: 143,853,324 (GRCm39) |
V230M |
probably damaging |
Het |
| Pole3 |
C |
A |
4: 62,443,250 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5c |
T |
C |
12: 110,452,357 (GRCm39) |
F22S |
probably benign |
Het |
| Prp2rt |
C |
A |
13: 97,235,406 (GRCm39) |
V114F |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,871,269 (GRCm39) |
|
probably null |
Het |
| Ptprq |
A |
T |
10: 107,478,931 (GRCm39) |
|
probably null |
Het |
| Rab18 |
T |
A |
18: 6,788,629 (GRCm39) |
C199S |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,450,251 (GRCm39) |
N4099S |
probably damaging |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,869 (GRCm39) |
|
probably null |
Het |
| Slco1c1 |
T |
A |
6: 141,492,415 (GRCm39) |
I217N |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,143,678 (GRCm39) |
T6241I |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,178,297 (GRCm39) |
F288L |
possibly damaging |
Het |
| Tmod2 |
G |
T |
9: 75,499,931 (GRCm39) |
T107N |
probably benign |
Het |
| Trappc6b |
T |
C |
12: 59,097,167 (GRCm39) |
T52A |
probably damaging |
Het |
| Tsen54 |
A |
G |
11: 115,706,232 (GRCm39) |
E122G |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,709,103 (GRCm39) |
N443S |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,662,365 (GRCm39) |
|
probably benign |
Het |
| Virma |
T |
A |
4: 11,518,927 (GRCm39) |
Y725N |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,238,019 (GRCm39) |
D207N |
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 |
|
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 |
|
|
R5028:Ano5
|
UTSW |
7 |
51,187,458 (GRCm39) |
splice site |
probably null |
|
|
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'- CCTAGCACGTCGTGTTTCTG -3'
(R):5'- ATATTCTCTTCTGATAGCACACTGC -3'
Sequencing Primer
(F):5'- TGTTTAAATTTTTATTAGCCTGGCTG -3'
(R):5'- CTGCCAACCTCTATTAAAGTGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation