Incidental Mutation 'PIT4434001:Ano1'
| ID |
555063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano1
|
| Ensembl Gene |
ENSMUSG00000031075 |
| Gene Name |
anoctamin 1, calcium activated chloride channel |
| Synonyms |
Tmem16a |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4434001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
144142286-144305711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144164632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 664
(V664A)
|
| 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
AA Change: V603A
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: V603A
| 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: V661A
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: V661A
| 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: V664A
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: V664A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
54 |
317 |
7.1e-83 |
PFAM |
|
Pfam:Anoctamin
|
320 |
901 |
2.2e-139 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
A |
11: 117,696,869 (GRCm39) |
D196E |
probably benign |
Het |
| Abcb5 |
G |
A |
12: 118,854,422 (GRCm39) |
S831F |
probably damaging |
Het |
| Alg2 |
C |
A |
4: 47,474,076 (GRCm39) |
A71S |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
| Bbox1 |
A |
C |
2: 110,105,979 (GRCm39) |
D188E |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,689,042 (GRCm39) |
T242M |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,584,947 (GRCm39) |
F30L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,145 (GRCm39) |
N214S |
probably null |
Het |
| Cep162 |
C |
A |
9: 87,075,701 (GRCm39) |
K1310N |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,548,421 (GRCm39) |
V21M |
unknown |
Het |
| Copa |
A |
G |
1: 171,933,742 (GRCm39) |
D401G |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,104 (GRCm39) |
V439A |
possibly damaging |
Het |
| Ddhd1 |
A |
C |
14: 45,848,062 (GRCm39) |
N569K |
possibly damaging |
Het |
| Dennd5a |
A |
G |
7: 109,532,831 (GRCm39) |
L313P |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,385,524 (GRCm39) |
F326L |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,068,276 (GRCm39) |
H864Q |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,907,612 (GRCm39) |
V2797I |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,229,134 (GRCm39) |
D692G |
probably damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,052,500 (GRCm39) |
S278P |
probably damaging |
Het |
| Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
| Grn |
C |
T |
11: 102,326,766 (GRCm39) |
H482Y |
possibly damaging |
Het |
| Igkv7-33 |
A |
G |
6: 70,035,797 (GRCm39) |
Y62H |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,189,569 (GRCm39) |
T95A |
probably benign |
Het |
| Lrp3 |
T |
C |
7: 34,903,420 (GRCm39) |
T309A |
probably damaging |
Het |
| Map3k2 |
C |
A |
18: 32,343,088 (GRCm39) |
D279E |
possibly damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
| Mcpt9 |
A |
G |
14: 56,266,686 (GRCm39) |
S14P |
probably benign |
Het |
| Or10b1 |
T |
C |
10: 78,355,549 (GRCm39) |
F36L |
possibly damaging |
Het |
| Or51a8 |
T |
C |
7: 102,549,837 (GRCm39) |
F88L |
probably benign |
Het |
| Or52a33 |
A |
C |
7: 103,289,054 (GRCm39) |
C98G |
probably damaging |
Het |
| Otud7b |
G |
A |
3: 96,047,776 (GRCm39) |
R45H |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,704 (GRCm39) |
N165D |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,779,681 (GRCm39) |
T538A |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,458 (GRCm39) |
E311G |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
| Raet1d |
A |
T |
10: 22,247,433 (GRCm39) |
K170* |
probably null |
Het |
| Rufy2 |
A |
T |
10: 62,826,845 (GRCm39) |
Q128L |
possibly damaging |
Het |
| Svopl |
T |
C |
6: 37,991,801 (GRCm39) |
N360D |
possibly damaging |
Het |
| Syt4 |
A |
C |
18: 31,573,384 (GRCm39) |
L377W |
probably damaging |
Het |
| Taar7a |
A |
G |
10: 23,869,319 (GRCm39) |
F21L |
probably benign |
Het |
| Tax1bp3 |
T |
A |
11: 73,071,630 (GRCm39) |
M78K |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,780 (GRCm38) |
|
probably null |
Het |
| Trim52 |
A |
T |
14: 106,344,732 (GRCm39) |
D130V |
probably benign |
Het |
| Ttc1 |
T |
C |
11: 43,635,955 (GRCm39) |
Y96C |
probably damaging |
Het |
| Vmn2r49 |
T |
C |
7: 9,710,762 (GRCm39) |
T657A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,881,817 (GRCm39) |
F1259I |
|
Het |
| Zbtb18 |
A |
T |
1: 177,275,989 (GRCm39) |
T441S |
possibly 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 |
|
|
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 |
|
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'- GCTTTTATCAGGGTGTCAATCAC -3'
(R):5'- CAAGACAGTAACCTCGGCTAG -3'
Sequencing Primer
(F):5'- TCAATCACAGTGACAGGGAAG -3'
(R):5'- AGTAACCTCGGCTAGTCCCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation