Incidental Mutation 'R0732:Ano1'
ID |
67656 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano1
|
Ensembl Gene |
ENSMUSG00000031075 |
Gene Name |
anoctamin 1, calcium activated chloride channel |
Synonyms |
Tmem16a |
MMRRC Submission |
038913-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0732 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 144173225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033393
|
SMART Domains |
Protein: ENSMUSP00000033393 Gene: ENSMUSG00000031075
Domain | Start | End | E-Value | Type |
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
Pfam:Anoctamin
|
320 |
898 |
1.3e-149 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118556
|
SMART Domains |
Protein: ENSMUSP00000113899 Gene: ENSMUSG00000031075
Domain | Start | End | E-Value | Type |
Pfam:Anoct_dimer
|
112 |
375 |
5.5e-83 |
PFAM |
Pfam:Anoctamin
|
378 |
955 |
6.7e-140 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121758
|
SMART Domains |
Protein: ENSMUSP00000112616 Gene: ENSMUSG00000031075
Domain | Start | End | E-Value | Type |
Pfam:Anoct_dimer
|
54 |
317 |
7.1e-83 |
PFAM |
Pfam:Anoctamin
|
320 |
901 |
2.2e-139 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152531
|
SMART Domains |
Protein: ENSMUSP00000119653 Gene: ENSMUSG00000031075
Domain | Start | End | E-Value | Type |
Pfam:Anoct_dimer
|
2 |
205 |
4.4e-64 |
PFAM |
Pfam:Anoctamin
|
208 |
335 |
3e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208094
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208985
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology. Mice homozygous for a different knock-out allele exhibit proteinuria and intracellular endosomal vesicles in PTE cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,523,411 (GRCm39) |
Y1175C |
probably damaging |
Het |
Acsm3 |
T |
C |
7: 119,373,057 (GRCm39) |
S187P |
probably benign |
Het |
Adam28 |
T |
C |
14: 68,874,796 (GRCm39) |
I294V |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,651,123 (GRCm39) |
I3057M |
possibly damaging |
Het |
Aff4 |
T |
C |
11: 53,266,423 (GRCm39) |
V304A |
probably benign |
Het |
Akr1b10 |
T |
C |
6: 34,367,044 (GRCm39) |
Y108H |
probably benign |
Het |
Ankib1 |
T |
C |
5: 3,763,163 (GRCm39) |
N522S |
possibly damaging |
Het |
Antxr2 |
G |
T |
5: 98,108,567 (GRCm39) |
|
probably null |
Het |
Arc |
G |
A |
15: 74,543,044 (GRCm39) |
T393I |
probably damaging |
Het |
Arhgef33 |
A |
G |
17: 80,688,783 (GRCm39) |
D5G |
possibly damaging |
Het |
Atf2 |
A |
T |
2: 73,675,844 (GRCm39) |
M169K |
possibly damaging |
Het |
BC005624 |
T |
A |
2: 30,863,949 (GRCm39) |
T215S |
possibly damaging |
Het |
Bmp8b |
G |
A |
4: 122,999,199 (GRCm39) |
G19D |
unknown |
Het |
Cacna1d |
T |
C |
14: 29,764,877 (GRCm39) |
N1987S |
probably damaging |
Het |
Camta1 |
T |
A |
4: 151,670,941 (GRCm39) |
|
probably null |
Het |
Catsperg2 |
C |
T |
7: 29,400,121 (GRCm39) |
G316D |
probably damaging |
Het |
Cbs |
G |
T |
17: 31,844,003 (GRCm39) |
N209K |
probably benign |
Het |
Ccdc122 |
T |
A |
14: 77,329,199 (GRCm39) |
M84K |
probably damaging |
Het |
Cd5 |
C |
T |
19: 10,700,649 (GRCm39) |
C285Y |
probably damaging |
Het |
Chpf2 |
T |
C |
5: 24,795,419 (GRCm39) |
M1T |
probably null |
Het |
Coch |
T |
A |
12: 51,642,155 (GRCm39) |
D42E |
probably damaging |
Het |
Crip2 |
C |
T |
12: 113,104,178 (GRCm39) |
|
probably benign |
Het |
Crlf2 |
G |
C |
5: 109,705,004 (GRCm39) |
P67R |
probably damaging |
Het |
Cxcl16 |
G |
T |
11: 70,346,234 (GRCm39) |
P233H |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,536,529 (GRCm39) |
I319T |
probably damaging |
Het |
Ddhd2 |
T |
C |
8: 26,231,348 (GRCm39) |
Q364R |
probably damaging |
Het |
Ephx2 |
A |
G |
14: 66,324,412 (GRCm39) |
|
probably null |
Het |
Exoc6b |
C |
A |
6: 84,832,504 (GRCm39) |
V397L |
probably damaging |
Het |
Fam83b |
T |
A |
9: 76,400,210 (GRCm39) |
K298* |
probably null |
Het |
Fbxo8 |
T |
A |
8: 57,044,564 (GRCm39) |
I289N |
probably damaging |
Het |
Fkbp9 |
T |
A |
6: 56,855,089 (GRCm39) |
M536K |
probably benign |
Het |
Flot1 |
C |
T |
17: 36,136,416 (GRCm39) |
R190W |
possibly damaging |
Het |
Gbp2b |
T |
A |
3: 142,312,739 (GRCm39) |
V374E |
probably benign |
Het |
Gna15 |
T |
A |
10: 81,348,390 (GRCm39) |
S114C |
probably damaging |
Het |
Gstt4 |
T |
A |
10: 75,653,155 (GRCm39) |
T136S |
probably benign |
Het |
Hcn3 |
C |
T |
3: 89,056,093 (GRCm39) |
V524M |
probably damaging |
Het |
Kctd16 |
A |
T |
18: 40,391,616 (GRCm39) |
D68V |
probably damaging |
Het |
Kics2 |
T |
C |
10: 121,586,852 (GRCm39) |
V253A |
possibly damaging |
Het |
Krt90 |
G |
T |
15: 101,468,860 (GRCm39) |
F227L |
possibly damaging |
Het |
Lrrc37 |
T |
C |
11: 103,510,664 (GRCm39) |
T435A |
unknown |
Het |
Maip1 |
A |
G |
1: 57,450,994 (GRCm39) |
Y212C |
probably damaging |
Het |
Mamdc2 |
C |
T |
19: 23,356,233 (GRCm39) |
D72N |
probably damaging |
Het |
Marveld3 |
A |
T |
8: 110,675,115 (GRCm39) |
Y234N |
probably damaging |
Het |
Mas1 |
A |
G |
17: 13,060,634 (GRCm39) |
I263T |
probably benign |
Het |
Matk |
T |
A |
10: 81,094,140 (GRCm39) |
|
probably null |
Het |
Mrgpre |
T |
A |
7: 143,335,303 (GRCm39) |
I67F |
possibly damaging |
Het |
Mthfd1 |
T |
A |
12: 76,340,948 (GRCm39) |
I449N |
probably damaging |
Het |
Nacc1 |
C |
T |
8: 85,402,830 (GRCm39) |
R321Q |
probably damaging |
Het |
Neb |
T |
C |
2: 52,148,693 (GRCm39) |
D2618G |
probably damaging |
Het |
Neb |
T |
C |
2: 52,181,280 (GRCm39) |
Y1109C |
probably damaging |
Het |
Nell1 |
T |
G |
7: 50,506,135 (GRCm39) |
W781G |
probably damaging |
Het |
Or4g16 |
T |
A |
2: 111,137,325 (GRCm39) |
Y258* |
probably null |
Het |
Or4x6 |
A |
G |
2: 89,949,666 (GRCm39) |
V92A |
probably benign |
Het |
Or52d1 |
T |
C |
7: 103,755,501 (GRCm39) |
L5P |
probably damaging |
Het |
Or55b4 |
T |
C |
7: 102,133,650 (GRCm39) |
I226V |
probably benign |
Het |
Or5p72 |
C |
A |
7: 108,021,784 (GRCm39) |
A2D |
probably benign |
Het |
Or6k4 |
A |
T |
1: 173,964,981 (GRCm39) |
I224F |
possibly damaging |
Het |
Or8s8 |
T |
C |
15: 98,354,959 (GRCm39) |
L256S |
possibly damaging |
Het |
Or8u10 |
A |
C |
2: 85,915,928 (GRCm39) |
S64R |
probably benign |
Het |
Pcdh7 |
C |
A |
5: 57,878,657 (GRCm39) |
D737E |
probably damaging |
Het |
Pdss1 |
T |
G |
2: 22,791,324 (GRCm39) |
M55R |
probably benign |
Het |
Pex6 |
C |
T |
17: 47,035,626 (GRCm39) |
R889W |
probably damaging |
Het |
Pigl |
T |
A |
11: 62,349,307 (GRCm39) |
C8S |
possibly damaging |
Het |
Plekha7 |
A |
T |
7: 115,744,472 (GRCm39) |
M585K |
probably damaging |
Het |
Ppp1r1a |
C |
T |
15: 103,441,514 (GRCm39) |
M66I |
possibly damaging |
Het |
Ptcd3 |
A |
T |
6: 71,858,155 (GRCm39) |
|
probably benign |
Het |
Rhov |
A |
T |
2: 119,101,495 (GRCm39) |
V37E |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,331,894 (GRCm39) |
M2368L |
probably damaging |
Het |
Skida1 |
T |
C |
2: 18,050,968 (GRCm39) |
|
probably benign |
Het |
Slc25a28 |
T |
C |
19: 43,655,392 (GRCm39) |
D161G |
probably benign |
Het |
Smc6 |
T |
C |
12: 11,340,818 (GRCm39) |
V490A |
probably damaging |
Het |
Sohlh2 |
T |
A |
3: 55,097,794 (GRCm39) |
|
probably null |
Het |
Stk31 |
A |
G |
6: 49,394,429 (GRCm39) |
T264A |
probably benign |
Het |
Syngap1 |
T |
A |
17: 27,173,962 (GRCm39) |
S190R |
possibly damaging |
Het |
Tacr1 |
T |
A |
6: 82,529,882 (GRCm39) |
V200E |
probably damaging |
Het |
Tbrg4 |
C |
T |
11: 6,570,812 (GRCm39) |
R220H |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,736,504 (GRCm39) |
L1649P |
probably benign |
Het |
Tcirg1 |
A |
T |
19: 3,947,866 (GRCm39) |
L523Q |
possibly damaging |
Het |
Tinag |
T |
A |
9: 76,908,936 (GRCm39) |
K335M |
possibly damaging |
Het |
Tkt |
T |
G |
14: 30,293,097 (GRCm39) |
|
probably null |
Het |
Tnpo1 |
C |
T |
13: 99,000,320 (GRCm39) |
R349H |
probably damaging |
Het |
Trim26 |
T |
A |
17: 37,163,510 (GRCm39) |
S230R |
possibly damaging |
Het |
Trim8 |
T |
A |
19: 46,503,178 (GRCm39) |
|
probably null |
Het |
Trp53bp1 |
T |
C |
2: 121,078,745 (GRCm39) |
R326G |
probably null |
Het |
Ugt2a2 |
A |
T |
5: 87,608,498 (GRCm39) |
I613N |
probably damaging |
Het |
Vmn1r32 |
T |
C |
6: 66,530,690 (GRCm39) |
I29V |
probably benign |
Het |
Wnt5b |
C |
T |
6: 119,423,543 (GRCm39) |
W27* |
probably null |
Het |
|
Other mutations in Ano1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00595:Ano1
|
APN |
7 |
144,192,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00754:Ano1
|
APN |
7 |
144,150,968 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00780:Ano1
|
APN |
7 |
144,209,367 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00918:Ano1
|
APN |
7 |
144,198,489 (GRCm39) |
splice site |
probably benign |
|
IGL01112:Ano1
|
APN |
7 |
144,190,882 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL01285:Ano1
|
APN |
7 |
144,198,479 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01285:Ano1
|
APN |
7 |
144,149,275 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01308:Ano1
|
APN |
7 |
144,149,235 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01407:Ano1
|
APN |
7 |
144,190,848 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01672:Ano1
|
APN |
7 |
144,209,412 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01920:Ano1
|
APN |
7 |
144,165,191 (GRCm39) |
splice site |
probably benign |
|
IGL01926:Ano1
|
APN |
7 |
144,164,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02164:Ano1
|
APN |
7 |
144,190,918 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02190:Ano1
|
APN |
7 |
144,172,620 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02214:Ano1
|
APN |
7 |
144,209,445 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02299:Ano1
|
APN |
7 |
144,143,812 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02567:Ano1
|
APN |
7 |
144,165,362 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03131:Ano1
|
APN |
7 |
144,157,322 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03291:Ano1
|
APN |
7 |
144,175,412 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03299:Ano1
|
APN |
7 |
144,207,993 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03394:Ano1
|
APN |
7 |
144,149,176 (GRCm39) |
splice site |
probably null |
|
PIT4434001:Ano1
|
UTSW |
7 |
144,164,632 (GRCm39) |
missense |
probably benign |
0.28 |
R0502:Ano1
|
UTSW |
7 |
144,150,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R0595:Ano1
|
UTSW |
7 |
144,143,890 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0970:Ano1
|
UTSW |
7 |
144,149,308 (GRCm39) |
missense |
probably benign |
0.02 |
R0988:Ano1
|
UTSW |
7 |
144,187,390 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1074:Ano1
|
UTSW |
7 |
144,165,417 (GRCm39) |
missense |
probably damaging |
0.98 |
R1301:Ano1
|
UTSW |
7 |
144,187,426 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1528:Ano1
|
UTSW |
7 |
144,149,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Ano1
|
UTSW |
7 |
144,207,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R2056:Ano1
|
UTSW |
7 |
144,201,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R2057:Ano1
|
UTSW |
7 |
144,201,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R2058:Ano1
|
UTSW |
7 |
144,201,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R2059:Ano1
|
UTSW |
7 |
144,165,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R2860:Ano1
|
UTSW |
7 |
144,143,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R2861:Ano1
|
UTSW |
7 |
144,143,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R3770:Ano1
|
UTSW |
7 |
144,149,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R3970:Ano1
|
UTSW |
7 |
144,161,700 (GRCm39) |
missense |
probably benign |
0.00 |
R4179:Ano1
|
UTSW |
7 |
144,204,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4489:Ano1
|
UTSW |
7 |
144,165,479 (GRCm39) |
missense |
probably benign |
0.00 |
R4678:Ano1
|
UTSW |
7 |
144,223,289 (GRCm39) |
missense |
probably benign |
0.01 |
R4915:Ano1
|
UTSW |
7 |
144,165,112 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5114:Ano1
|
UTSW |
7 |
144,210,820 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5362:Ano1
|
UTSW |
7 |
144,202,337 (GRCm39) |
unclassified |
probably benign |
|
R5364:Ano1
|
UTSW |
7 |
144,190,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R5366:Ano1
|
UTSW |
7 |
144,207,946 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5387:Ano1
|
UTSW |
7 |
144,202,356 (GRCm39) |
missense |
probably benign |
|
R5762:Ano1
|
UTSW |
7 |
144,201,774 (GRCm39) |
missense |
probably damaging |
0.99 |
R5857:Ano1
|
UTSW |
7 |
144,190,840 (GRCm39) |
missense |
probably benign |
0.02 |
R6091:Ano1
|
UTSW |
7 |
144,223,171 (GRCm39) |
missense |
probably benign |
0.12 |
R6093:Ano1
|
UTSW |
7 |
144,165,114 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6177:Ano1
|
UTSW |
7 |
144,232,478 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6246:Ano1
|
UTSW |
7 |
144,187,462 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6274:Ano1
|
UTSW |
7 |
144,172,600 (GRCm39) |
missense |
probably benign |
0.01 |
R6323:Ano1
|
UTSW |
7 |
144,165,423 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6574:Ano1
|
UTSW |
7 |
144,161,653 (GRCm39) |
critical splice donor site |
probably null |
|
R6782:Ano1
|
UTSW |
7 |
144,175,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R6880:Ano1
|
UTSW |
7 |
144,198,479 (GRCm39) |
missense |
probably benign |
0.00 |
R6909:Ano1
|
UTSW |
7 |
144,209,468 (GRCm39) |
missense |
probably damaging |
0.96 |
R7066:Ano1
|
UTSW |
7 |
144,190,823 (GRCm39) |
missense |
probably benign |
0.35 |
R7073:Ano1
|
UTSW |
7 |
144,192,289 (GRCm39) |
missense |
probably damaging |
0.96 |
R7146:Ano1
|
UTSW |
7 |
144,209,393 (GRCm39) |
missense |
probably benign |
0.00 |
R7420:Ano1
|
UTSW |
7 |
144,209,378 (GRCm39) |
missense |
probably benign |
0.00 |
R7874:Ano1
|
UTSW |
7 |
144,175,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R8468:Ano1
|
UTSW |
7 |
144,209,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R8867:Ano1
|
UTSW |
7 |
144,223,397 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8923:Ano1
|
UTSW |
7 |
144,204,288 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9215:Ano1
|
UTSW |
7 |
144,149,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R9281:Ano1
|
UTSW |
7 |
144,149,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R9572:Ano1
|
UTSW |
7 |
144,204,293 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9668:Ano1
|
UTSW |
7 |
144,164,579 (GRCm39) |
critical splice donor site |
probably null |
|
R9681:Ano1
|
UTSW |
7 |
144,143,893 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9756:Ano1
|
UTSW |
7 |
144,162,666 (GRCm39) |
missense |
probably benign |
0.45 |
R9780:Ano1
|
UTSW |
7 |
144,209,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R9792:Ano1
|
UTSW |
7 |
144,175,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R9793:Ano1
|
UTSW |
7 |
144,175,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R9795:Ano1
|
UTSW |
7 |
144,175,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAGGAACCCCAGCTCAATGGAATG -3'
(R):5'- GAGAATTGTGGGAAGCTTGCACAAC -3'
Sequencing Primer
(F):5'- TGCTAGGTTTCAATGAACACCC -3'
(R):5'- CAACTGGCATCTTGAAATGGC -3'
|
Posted On |
2013-09-03 |