Incidental Mutation 'R2763:Ano7'
ID |
254134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano7
|
Ensembl Gene |
ENSMUSG00000034107 |
Gene Name |
anoctamin 7 |
Synonyms |
NGEP-L, Tmem16g, NGEP, IPCA-5, Pcanap5 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2763 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
93301652-93332025 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 93326908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058682]
[ENSMUST00000058682]
[ENSMUST00000186641]
[ENSMUST00000186641]
|
AlphaFold |
Q14AT5 |
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: 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 |
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190340
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
A |
15: 83,111,871 (GRCm39) |
D304V |
probably benign |
Het |
Ablim3 |
T |
A |
18: 61,946,615 (GRCm39) |
K516* |
probably null |
Het |
Akap11 |
A |
G |
14: 78,756,332 (GRCm39) |
F22S |
probably damaging |
Het |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Apol9a |
T |
C |
15: 77,288,617 (GRCm39) |
E250G |
probably benign |
Het |
Calcrl |
T |
C |
2: 84,200,847 (GRCm39) |
R66G |
probably damaging |
Het |
Camta2 |
G |
A |
11: 70,573,356 (GRCm39) |
Q187* |
probably null |
Het |
Cd177 |
G |
A |
7: 24,457,462 (GRCm39) |
A193V |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,199,508 (GRCm39) |
V872A |
probably benign |
Het |
Cebpz |
A |
G |
17: 79,243,358 (GRCm39) |
S99P |
probably benign |
Het |
Cmtr1 |
G |
A |
17: 29,899,602 (GRCm39) |
E632K |
possibly damaging |
Het |
Dysf |
A |
T |
6: 84,083,914 (GRCm39) |
H782L |
probably benign |
Het |
Fem1a |
A |
G |
17: 56,564,537 (GRCm39) |
E210G |
probably benign |
Het |
Golga3 |
T |
C |
5: 110,352,761 (GRCm39) |
I884T |
possibly damaging |
Het |
Gstm6 |
G |
A |
3: 107,848,358 (GRCm39) |
T173M |
possibly damaging |
Het |
Pcdhgb8 |
T |
A |
18: 37,895,315 (GRCm39) |
N128K |
probably damaging |
Het |
Phkg2 |
A |
G |
7: 127,179,005 (GRCm39) |
E139G |
probably benign |
Het |
Sdk1 |
T |
A |
5: 142,070,306 (GRCm39) |
V1157E |
possibly damaging |
Het |
Septin9 |
C |
T |
11: 117,217,327 (GRCm39) |
T6I |
probably benign |
Het |
Shkbp1 |
T |
A |
7: 27,046,454 (GRCm39) |
M437L |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,084,061 (GRCm39) |
C1904R |
possibly damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Zfp646 |
T |
A |
7: 127,479,210 (GRCm39) |
C242* |
probably null |
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 |
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 |
R7106:Ano7
|
UTSW |
1 |
93,302,705 (GRCm39) |
splice site |
probably null |
|
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'- CAAGGTAGTCCAGGCATGTC -3'
(R):5'- TGACAGGCTCTCCAATACCC -3'
Sequencing Primer
(F):5'- CAAGGTAGTCCAGGCATGTCCTATG -3'
(R):5'- CCAGACACAGCAACAAATGAGATAGG -3'
|
Posted On |
2014-12-04 |