Incidental Mutation 'R6177:Ano1'
ID |
529372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano1
|
Ensembl Gene |
ENSMUSG00000031075 |
Gene Name |
anoctamin 1, calcium activated chloride channel |
Synonyms |
Tmem16a |
MMRRC Submission |
044319-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6177 (G1)
|
Quality Score |
52.0072 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 144232478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 25
(M25L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033393]
[ENSMUST00000118556]
[ENSMUST00000121758]
[ENSMUST00000131731]
[ENSMUST00000155175]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033393
AA Change: M1L
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000033393 Gene: ENSMUSG00000031075 AA Change: M1L
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
AA Change: M59L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000113899 Gene: ENSMUSG00000031075 AA Change: M59L
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 benign
Transcript: ENSMUST00000121758
AA Change: M58L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000112616 Gene: ENSMUSG00000031075 AA Change: M58L
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 |
possibly damaging
Transcript: ENSMUST00000131731
AA Change: M1L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118206 Gene: ENSMUSG00000031075 AA Change: M1L
Domain | Start | End | E-Value | Type |
low complexity region
|
129 |
147 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155175
AA Change: M25L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120306 Gene: ENSMUSG00000031075 AA Change: M25L
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
171 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6163 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.7%
|
Validation Efficiency |
100% (65/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
T |
C |
15: 91,074,896 (GRCm39) |
I306V |
probably damaging |
Het |
Actrt3 |
A |
T |
3: 30,652,316 (GRCm39) |
Y259* |
probably null |
Het |
Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
Apol10b |
A |
T |
15: 77,469,987 (GRCm39) |
D63E |
possibly damaging |
Het |
Atp6v1c1 |
C |
A |
15: 38,674,172 (GRCm39) |
S55* |
probably null |
Het |
C1s2 |
T |
G |
6: 124,606,960 (GRCm39) |
D296A |
probably damaging |
Het |
Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
Cadm4 |
G |
A |
7: 24,202,186 (GRCm39) |
V342M |
possibly damaging |
Het |
Cat |
T |
C |
2: 103,303,420 (GRCm39) |
E119G |
probably damaging |
Het |
Cavin2 |
G |
T |
1: 51,328,654 (GRCm39) |
S37I |
probably damaging |
Het |
Cdhr18 |
T |
C |
14: 13,868,002 (GRCm38) |
D229G |
probably benign |
Het |
Cdk5rap2 |
G |
A |
4: 70,199,719 (GRCm39) |
R802C |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,751,897 (GRCm39) |
|
probably benign |
Het |
Dhx57 |
T |
C |
17: 80,580,395 (GRCm39) |
N519S |
possibly damaging |
Het |
Dpep2 |
T |
C |
8: 106,712,831 (GRCm39) |
D260G |
probably damaging |
Het |
Edem1 |
T |
A |
6: 108,828,159 (GRCm39) |
|
probably null |
Het |
Epb41l4a |
A |
T |
18: 33,931,868 (GRCm39) |
|
probably null |
Het |
Esp1 |
T |
C |
17: 41,039,723 (GRCm39) |
S3P |
possibly damaging |
Het |
Fam111a |
A |
G |
19: 12,564,746 (GRCm39) |
Y165C |
probably damaging |
Het |
Fstl4 |
A |
G |
11: 53,059,031 (GRCm39) |
T497A |
probably benign |
Het |
Gstcd |
T |
C |
3: 132,787,834 (GRCm39) |
D288G |
probably damaging |
Het |
Hmcn2 |
T |
A |
2: 31,310,118 (GRCm39) |
L3264* |
probably null |
Het |
Hyal4 |
T |
A |
6: 24,766,089 (GRCm39) |
L481* |
probably null |
Het |
Ighv2-7 |
A |
G |
12: 113,771,055 (GRCm39) |
Y77H |
possibly damaging |
Het |
Jdp2 |
G |
T |
12: 85,685,614 (GRCm39) |
R125L |
probably benign |
Het |
Lrp1b |
A |
T |
2: 41,013,748 (GRCm39) |
|
probably null |
Het |
Lrp2 |
AC |
A |
2: 69,340,763 (GRCm39) |
|
probably null |
Het |
Marveld2 |
C |
T |
13: 100,733,886 (GRCm39) |
D250N |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,242,662 (GRCm39) |
S53P |
probably damaging |
Het |
Ms4a20 |
A |
G |
19: 11,083,114 (GRCm39) |
I102T |
possibly damaging |
Het |
Myo3b |
T |
C |
2: 70,143,707 (GRCm39) |
V1041A |
probably benign |
Het |
Nkpd1 |
T |
A |
7: 19,257,009 (GRCm39) |
F113I |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,923,490 (GRCm39) |
S6470P |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4a73 |
T |
C |
2: 89,420,661 (GRCm39) |
D266G |
possibly damaging |
Het |
Or9g4b |
C |
T |
2: 85,616,004 (GRCm39) |
R50C |
probably damaging |
Het |
Pdcd11 |
G |
T |
19: 47,108,722 (GRCm39) |
G1246V |
probably damaging |
Het |
Phc3 |
A |
T |
3: 30,996,714 (GRCm39) |
S219T |
probably damaging |
Het |
Plxnb1 |
C |
T |
9: 108,931,993 (GRCm39) |
|
probably null |
Het |
Polh |
T |
C |
17: 46,495,670 (GRCm39) |
D276G |
possibly damaging |
Het |
Polq |
T |
A |
16: 36,892,071 (GRCm39) |
V1991E |
probably damaging |
Het |
Polr2g |
G |
A |
19: 8,771,541 (GRCm39) |
R144C |
probably damaging |
Het |
Pramel16 |
G |
A |
4: 143,675,576 (GRCm39) |
H417Y |
possibly damaging |
Het |
Prex2 |
A |
C |
1: 11,207,001 (GRCm39) |
T520P |
possibly damaging |
Het |
Psg21 |
T |
A |
7: 18,386,279 (GRCm39) |
T236S |
possibly damaging |
Het |
Ptpru |
A |
T |
4: 131,520,836 (GRCm39) |
S761R |
probably benign |
Het |
Rapgef6 |
G |
A |
11: 54,510,842 (GRCm39) |
R253Q |
probably damaging |
Het |
Rc3h2 |
C |
T |
2: 37,279,658 (GRCm39) |
V524I |
probably benign |
Het |
Sde2 |
T |
C |
1: 180,685,784 (GRCm39) |
V112A |
probably damaging |
Het |
Septin7 |
T |
C |
9: 25,205,100 (GRCm39) |
|
probably null |
Het |
Spef2 |
A |
G |
15: 9,727,618 (GRCm39) |
V155A |
possibly damaging |
Het |
St7 |
T |
C |
6: 17,819,333 (GRCm39) |
|
probably null |
Het |
Tmcc3 |
A |
T |
10: 94,418,249 (GRCm39) |
Y339F |
probably damaging |
Het |
Tmed6 |
T |
C |
8: 107,792,083 (GRCm39) |
E54G |
probably damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,889,624 (GRCm39) |
|
probably benign |
Het |
Trim43c |
T |
C |
9: 88,722,600 (GRCm39) |
L82P |
possibly damaging |
Het |
Txndc2 |
T |
C |
17: 65,945,466 (GRCm39) |
D237G |
probably benign |
Het |
Vmn1r91 |
T |
A |
7: 19,835,404 (GRCm39) |
C108S |
possibly damaging |
Het |
Vtn |
A |
T |
11: 78,390,836 (GRCm39) |
D165V |
probably damaging |
Het |
Wdr3 |
A |
T |
3: 100,068,468 (GRCm39) |
S13R |
probably damaging |
Het |
Zdhhc16 |
A |
G |
19: 41,926,198 (GRCm39) |
Y31C |
probably benign |
Het |
Zfp39 |
A |
T |
11: 58,781,887 (GRCm39) |
W292R |
probably benign |
Het |
Zfp612 |
A |
T |
8: 110,816,606 (GRCm39) |
L604F |
probably damaging |
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 |
R0732:Ano1
|
UTSW |
7 |
144,173,225 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
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'- AGAGACACTGCAAACCCTGG -3'
(R):5'- GCGCTTATATCTTTAAGGCGG -3'
Sequencing Primer
(F):5'- AGGACACCAGGGACACTCTG -3'
(R):5'- GCCAAGTTCACGGCGCG -3'
|
Posted On |
2018-07-31 |