Incidental Mutation 'R7106:Ano7'
| ID |
568518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano7
|
| Ensembl Gene |
ENSMUSG00000034107 |
| Gene Name |
anoctamin 7 |
| Synonyms |
NGEP-L, Tmem16g, NGEP, IPCA-5, Pcanap5 |
| MMRRC Submission |
045198-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7106 (G1)
|
| Quality Score |
78.0075 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93301652-93332025 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 93302705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027494]
[ENSMUST00000058682]
[ENSMUST00000186641]
|
| AlphaFold |
Q14AT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027494
|
| SMART Domains |
Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
39 |
N/A |
INTRINSIC |
|
LRR
|
98 |
119 |
1.32e-5 |
SMART |
|
LRR
|
120 |
141 |
4.37e-6 |
SMART |
|
LRR
|
142 |
163 |
6.42e-4 |
SMART |
|
LRR
|
164 |
185 |
9.73e-4 |
SMART |
|
LRR
|
186 |
207 |
3.74e-5 |
SMART |
|
LRR
|
208 |
229 |
4.68e-6 |
SMART |
|
LRR
|
230 |
251 |
1.04e-3 |
SMART |
|
LRR
|
252 |
273 |
1.98e-4 |
SMART |
|
LRR
|
274 |
295 |
2.01e-5 |
SMART |
|
LRR
|
296 |
317 |
1.45e-2 |
SMART |
|
LRRcap
|
337 |
355 |
2.67e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000058682
|
| SMART Domains |
Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
49 |
274 |
2.2e-63 |
PFAM |
|
Pfam:Anoctamin
|
277 |
824 |
3.4e-146 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186641
|
| SMART Domains |
Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
277 |
825 |
6.6e-150 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (62/62) |
| 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. In humans, this protein is primarily found in prostate tissues and may serve as a target for prostate cancer immunotherapy. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldob |
T |
C |
4: 49,541,258 (GRCm39) |
Y138C |
probably damaging |
Het |
| Arvcf |
T |
A |
16: 18,217,799 (GRCm39) |
V497E |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,980,162 (GRCm39) |
|
probably null |
Het |
| Brinp1 |
C |
T |
4: 68,747,615 (GRCm39) |
A163T |
probably benign |
Het |
| Catsperd |
C |
A |
17: 56,965,070 (GRCm39) |
|
probably null |
Het |
| Ccm2l |
A |
G |
2: 152,912,571 (GRCm39) |
H70R |
possibly damaging |
Het |
| Cgnl1 |
G |
A |
9: 71,633,015 (GRCm39) |
T112I |
probably benign |
Het |
| Chid1 |
T |
C |
7: 141,102,573 (GRCm39) |
H220R |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,190 (GRCm39) |
V106A |
probably damaging |
Het |
| Cldn23 |
A |
C |
8: 36,293,069 (GRCm39) |
S140A |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,038,893 (GRCm39) |
S14P |
possibly damaging |
Het |
| Det1 |
T |
C |
7: 78,493,212 (GRCm39) |
D264G |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,814,454 (GRCm39) |
V368A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,924,884 (GRCm39) |
K3362E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,960,152 (GRCm39) |
F2208L |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,523,798 (GRCm39) |
I477T |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,947,591 (GRCm39) |
K482E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,855,563 (GRCm39) |
I1493T |
unknown |
Het |
| Ehbp1l1 |
A |
G |
19: 5,768,765 (GRCm39) |
V846A |
probably benign |
Het |
| Fbxl4 |
T |
A |
4: 22,427,140 (GRCm39) |
|
probably null |
Het |
| Fgd2 |
T |
A |
17: 29,595,944 (GRCm39) |
L534* |
probably null |
Het |
| Fgfr3 |
T |
C |
5: 33,888,758 (GRCm39) |
V349A |
probably damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,948,509 (GRCm39) |
I239F |
probably damaging |
Het |
| Gpatch3 |
C |
A |
4: 133,305,514 (GRCm39) |
H250N |
probably benign |
Het |
| Guca1b |
A |
T |
17: 47,702,236 (GRCm39) |
K230* |
probably null |
Het |
| Itga3 |
G |
T |
11: 94,946,699 (GRCm39) |
L737I |
probably benign |
Het |
| Kmt5c |
A |
G |
7: 4,745,705 (GRCm39) |
K122E |
probably damaging |
Het |
| Kpna4 |
G |
A |
3: 68,986,797 (GRCm39) |
Q531* |
probably null |
Het |
| Lctl |
A |
G |
9: 64,040,119 (GRCm39) |
E410G |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,903 (GRCm39) |
N128D |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,202,405 (GRCm39) |
N349D |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,449,903 (GRCm39) |
A209T |
possibly damaging |
Het |
| Mif4gd |
G |
A |
11: 115,502,737 (GRCm39) |
A25V |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,059,680 (GRCm39) |
S1353P |
probably damaging |
Het |
| Myh9 |
A |
G |
15: 77,659,321 (GRCm39) |
C931R |
probably benign |
Het |
| Nelfe |
T |
G |
17: 35,071,395 (GRCm39) |
|
probably null |
Het |
| Nrf1 |
A |
G |
6: 30,102,183 (GRCm39) |
S161G |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 116,017,368 (GRCm39) |
Q130* |
probably null |
Het |
| Prex2 |
T |
A |
1: 11,207,017 (GRCm39) |
M525K |
probably benign |
Het |
| Psme2 |
A |
G |
14: 55,825,694 (GRCm39) |
S165P |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,973,915 (GRCm39) |
F1477S |
probably benign |
Het |
| Rasef |
A |
T |
4: 73,645,864 (GRCm39) |
C502S |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,780,988 (GRCm39) |
L565* |
probably null |
Het |
| Sav1 |
A |
G |
12: 70,031,390 (GRCm39) |
I44T |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,953,991 (GRCm39) |
I97N |
probably benign |
Het |
| Serpina1d |
A |
G |
12: 103,731,980 (GRCm39) |
F293S |
probably benign |
Het |
| Sin3b |
T |
C |
8: 73,450,765 (GRCm39) |
F65L |
possibly damaging |
Het |
| Sorcs3 |
G |
C |
19: 48,694,402 (GRCm39) |
G559R |
probably damaging |
Het |
| Susd2 |
A |
T |
10: 75,473,887 (GRCm39) |
D689E |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,389,360 (GRCm39) |
M448L |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,137,897 (GRCm39) |
I181N |
possibly damaging |
Het |
| Tcea3 |
A |
G |
4: 135,998,679 (GRCm39) |
T318A |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
| Tpp1 |
A |
C |
7: 105,399,118 (GRCm39) |
S153A |
possibly damaging |
Het |
| Trip13 |
C |
T |
13: 74,062,651 (GRCm39) |
V387I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,627,832 (GRCm39) |
I14704V |
probably benign |
Het |
| Uimc1 |
C |
A |
13: 55,198,628 (GRCm39) |
C516F |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,894,228 (GRCm39) |
N210S |
probably benign |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,296 (GRCm39) |
T227K |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,399,104 (GRCm39) |
I625T |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,001,222 (GRCm39) |
L98P |
probably benign |
Het |
| Zfp809 |
G |
T |
9: 22,147,520 (GRCm39) |
K51N |
probably benign |
Het |
|
| Other mutations in Ano7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Ano7
|
APN |
1 |
93,329,888 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00838:Ano7
|
APN |
1 |
93,330,479 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01295:Ano7
|
APN |
1 |
93,308,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01322:Ano7
|
APN |
1 |
93,323,230 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01807:Ano7
|
APN |
1 |
93,330,418 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01859:Ano7
|
APN |
1 |
93,322,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02349:Ano7
|
APN |
1 |
93,319,212 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02976:Ano7
|
APN |
1 |
93,330,395 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0360:Ano7
|
UTSW |
1 |
93,316,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0364:Ano7
|
UTSW |
1 |
93,316,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0528:Ano7
|
UTSW |
1 |
93,323,224 (GRCm39) |
missense |
probably null |
1.00 |
|
R0741:Ano7
|
UTSW |
1 |
93,329,309 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1131:Ano7
|
UTSW |
1 |
93,329,498 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1156:Ano7
|
UTSW |
1 |
93,329,574 (GRCm39) |
splice site |
probably null |
|
|
R1500:Ano7
|
UTSW |
1 |
93,325,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Ano7
|
UTSW |
1 |
93,313,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2002:Ano7
|
UTSW |
1 |
93,328,303 (GRCm39) |
unclassified |
probably benign |
|
|
R2062:Ano7
|
UTSW |
1 |
93,318,035 (GRCm39) |
missense |
probably benign |
|
|
R2120:Ano7
|
UTSW |
1 |
93,329,855 (GRCm39) |
splice site |
probably benign |
|
|
R2200:Ano7
|
UTSW |
1 |
93,308,158 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2268:Ano7
|
UTSW |
1 |
93,308,161 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2763:Ano7
|
UTSW |
1 |
93,326,908 (GRCm39) |
splice site |
probably null |
|
|
R4202:Ano7
|
UTSW |
1 |
93,308,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4204:Ano7
|
UTSW |
1 |
93,308,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4205:Ano7
|
UTSW |
1 |
93,308,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4453:Ano7
|
UTSW |
1 |
93,322,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Ano7
|
UTSW |
1 |
93,302,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4735:Ano7
|
UTSW |
1 |
93,328,216 (GRCm39) |
missense |
probably benign |
|
|
R4809:Ano7
|
UTSW |
1 |
93,322,288 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4935:Ano7
|
UTSW |
1 |
93,323,036 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4970:Ano7
|
UTSW |
1 |
93,325,085 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5112:Ano7
|
UTSW |
1 |
93,325,085 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5249:Ano7
|
UTSW |
1 |
93,302,918 (GRCm39) |
missense |
probably benign |
|
|
R5813:Ano7
|
UTSW |
1 |
93,312,641 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6181:Ano7
|
UTSW |
1 |
93,323,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Ano7
|
UTSW |
1 |
93,313,342 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7199:Ano7
|
UTSW |
1 |
93,330,700 (GRCm39) |
missense |
|
|
|
R7218:Ano7
|
UTSW |
1 |
93,308,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7381:Ano7
|
UTSW |
1 |
93,323,057 (GRCm39) |
missense |
probably benign |
|
|
R7722:Ano7
|
UTSW |
1 |
93,318,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7832:Ano7
|
UTSW |
1 |
93,322,195 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8700:Ano7
|
UTSW |
1 |
93,316,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Ano7
|
UTSW |
1 |
93,322,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ano7
|
UTSW |
1 |
93,322,187 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1177:Ano7
|
UTSW |
1 |
93,329,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTACCCAGAATGAAAGGGAGC -3'
(R):5'- ATAGGAGCATCCATTCCCTGC -3'
Sequencing Primer
(F):5'- GGGAGCCCCACACTTGGTG -3'
(R):5'- AGGCCATGTCGATCAGCAC -3'
|
| Posted On |
2019-08-15 |
Incidental Mutation