Incidental Mutation 'R0741:Ano7'
ID |
70670 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano7
|
Ensembl Gene |
ENSMUSG00000034107 |
Gene Name |
anoctamin 7 |
Synonyms |
NGEP-L, Tmem16g, NGEP, IPCA-5, Pcanap5 |
MMRRC Submission |
038922-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0741 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
93301652-93332025 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 93329309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 701
(I701N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058682]
[ENSMUST00000170883]
[ENSMUST00000186641]
|
AlphaFold |
Q14AT5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058682
AA Change: I701N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000050495 Gene: ENSMUSG00000034107 AA Change: I701N
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 benign
Transcript: ENSMUST00000170883
|
SMART Domains |
Protein: ENSMUSP00000127903 Gene: ENSMUSG00000034088
Domain | Start | End | E-Value | Type |
KH
|
149 |
217 |
1.97e-15 |
SMART |
KH
|
221 |
289 |
1.8e-9 |
SMART |
KH
|
294 |
362 |
1.73e-11 |
SMART |
KH
|
363 |
429 |
2.66e-12 |
SMART |
KH
|
434 |
502 |
9.18e-16 |
SMART |
KH
|
506 |
575 |
7.52e-12 |
SMART |
KH
|
580 |
648 |
7.68e-18 |
SMART |
KH
|
652 |
721 |
3.24e-16 |
SMART |
KH
|
726 |
795 |
1.33e-12 |
SMART |
KH
|
799 |
868 |
2.48e-12 |
SMART |
KH
|
872 |
972 |
3.03e-16 |
SMART |
KH
|
973 |
1039 |
4.56e-11 |
SMART |
KH
|
1051 |
1122 |
3.67e-15 |
SMART |
KH
|
1126 |
1195 |
3.37e-14 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186641
AA Change: I701N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140438 Gene: ENSMUSG00000034107 AA Change: I701N
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
277 |
825 |
6.6e-150 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190340
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb7 |
A |
T |
7: 66,309,882 (GRCm39) |
N111K |
probably benign |
Het |
Atp10a |
T |
A |
7: 58,478,337 (GRCm39) |
L1460Q |
possibly damaging |
Het |
Auh |
T |
C |
13: 53,083,638 (GRCm39) |
T14A |
possibly damaging |
Het |
Caskin2 |
A |
G |
11: 115,695,626 (GRCm39) |
V245A |
probably damaging |
Het |
Cryba4 |
G |
A |
5: 112,394,554 (GRCm39) |
R192C |
probably damaging |
Het |
Ctsq |
T |
A |
13: 61,184,019 (GRCm39) |
D301V |
probably damaging |
Het |
Dpyd |
A |
G |
3: 118,468,154 (GRCm39) |
E56G |
possibly damaging |
Het |
Dtd2 |
T |
C |
12: 52,046,455 (GRCm39) |
K128R |
probably benign |
Het |
Eps8l3 |
A |
G |
3: 107,790,141 (GRCm39) |
T141A |
probably benign |
Het |
Evc |
A |
T |
5: 37,483,739 (GRCm39) |
I187N |
possibly damaging |
Het |
Fam120a |
A |
G |
13: 49,045,416 (GRCm39) |
S807P |
possibly damaging |
Het |
Fbxw22 |
G |
A |
9: 109,211,287 (GRCm39) |
S338L |
probably benign |
Het |
Gcnt4 |
G |
T |
13: 97,082,940 (GRCm39) |
E79* |
probably null |
Het |
Get4 |
G |
A |
5: 139,249,384 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
A |
G |
3: 103,654,128 (GRCm39) |
V954A |
probably benign |
Het |
Ifi206 |
C |
T |
1: 173,301,315 (GRCm39) |
V788M |
probably benign |
Het |
Iqgap1 |
A |
G |
7: 80,370,735 (GRCm39) |
S1545P |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,087,482 (GRCm39) |
T933A |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Magee2 |
A |
G |
X: 103,899,472 (GRCm39) |
L393P |
probably damaging |
Het |
Mtrr |
T |
C |
13: 68,727,658 (GRCm39) |
|
probably null |
Het |
Nes |
A |
G |
3: 87,886,274 (GRCm39) |
E1467G |
probably damaging |
Het |
Nol3 |
C |
G |
8: 106,005,756 (GRCm39) |
A50G |
probably damaging |
Het |
Nr2f2 |
G |
A |
7: 70,007,745 (GRCm39) |
R113C |
probably damaging |
Het |
Obscn |
CCACACACACACAC |
CCACACACACAC |
11: 58,954,279 (GRCm39) |
|
probably null |
Het |
Or10a3m |
T |
A |
7: 108,312,811 (GRCm39) |
C84S |
probably benign |
Het |
Pnkd |
T |
A |
1: 74,391,018 (GRCm39) |
S337R |
possibly damaging |
Het |
Ptprh |
A |
G |
7: 4,557,172 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
A |
C |
12: 55,723,366 (GRCm39) |
V1767G |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Skap1 |
A |
C |
11: 96,383,759 (GRCm39) |
|
probably benign |
Het |
Trip12 |
A |
G |
1: 84,722,902 (GRCm39) |
S1250P |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,712,236 (GRCm39) |
H50R |
possibly damaging |
Het |
Usp25 |
C |
A |
16: 76,868,596 (GRCm39) |
D332E |
possibly damaging |
Het |
Vgll1 |
A |
T |
X: 56,141,644 (GRCm39) |
|
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 |
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 |
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'- TTGAAATGAACTGCCCGATACCCTG -3'
(R):5'- TCGTGCCAGCGTGAAATTGAGG -3'
Sequencing Primer
(F):5'- GGTCTGAGAGTTTTACCAGCTCC -3'
(R):5'- TTGAGGAAGCCATGCAGGTC -3'
|
Posted On |
2013-09-30 |