Incidental Mutation 'R7035:Ano4'
| ID |
546613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano4
|
| Ensembl Gene |
ENSMUSG00000035189 |
| Gene Name |
anoctamin 4 |
| Synonyms |
Tmem16d, A330096O15Rik |
| MMRRC Submission |
045136-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7035 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88790573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 842
(F842S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
| AlphaFold |
Q8C5H1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182341
AA Change: F877S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: F877S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
339 |
922 |
4.8e-162 |
PFAM |
|
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182462
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182613
AA Change: F842S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: F842S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
|
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182790
AA Change: F842S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: F842S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
|
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
T |
A |
3: 68,777,272 (GRCm39) |
F78I |
probably benign |
Het |
| 1700102P08Rik |
A |
T |
9: 108,272,510 (GRCm39) |
D140V |
possibly damaging |
Het |
| 6430548M08Rik |
A |
T |
8: 120,879,225 (GRCm39) |
S208C |
probably damaging |
Het |
| Abcd4 |
G |
T |
12: 84,662,123 (GRCm39) |
T41K |
probably damaging |
Het |
| Acaca |
C |
T |
11: 84,129,769 (GRCm39) |
R375C |
probably damaging |
Het |
| Acad11 |
T |
A |
9: 103,990,694 (GRCm39) |
V433D |
probably damaging |
Het |
| Adal |
T |
A |
2: 120,985,942 (GRCm39) |
C226S |
probably benign |
Het |
| Aldh3b2 |
A |
T |
19: 4,028,142 (GRCm39) |
M95L |
probably benign |
Het |
| Ap5s1 |
T |
C |
2: 131,054,732 (GRCm39) |
F181S |
probably damaging |
Het |
| Apba1 |
G |
A |
19: 23,894,931 (GRCm39) |
D456N |
possibly damaging |
Het |
| Armh4 |
T |
A |
14: 50,010,507 (GRCm39) |
H400L |
possibly damaging |
Het |
| Atp6v0a1 |
A |
C |
11: 100,918,183 (GRCm39) |
Q199H |
probably damaging |
Het |
| Atp8a1 |
C |
G |
5: 67,938,373 (GRCm39) |
G161A |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,949,530 (GRCm39) |
Q61* |
probably null |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,670 (GRCm39) |
I178K |
probably damaging |
Het |
| Catsperb |
A |
C |
12: 101,381,593 (GRCm39) |
T92P |
probably damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,202,419 (GRCm39) |
I292T |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,334,933 (GRCm39) |
S318T |
probably benign |
Het |
| Cfb |
T |
A |
17: 35,079,007 (GRCm39) |
Y826F |
possibly damaging |
Het |
| Cntn1 |
C |
A |
15: 92,212,392 (GRCm39) |
D851E |
probably benign |
Het |
| Coq6 |
A |
G |
12: 84,415,415 (GRCm39) |
D146G |
probably damaging |
Het |
| Crem |
G |
A |
18: 3,327,503 (GRCm39) |
T12I |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,730,574 (GRCm39) |
V824I |
probably damaging |
Het |
| Dnase2b |
C |
T |
3: 146,288,096 (GRCm39) |
C333Y |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,406,355 (GRCm39) |
F365I |
possibly damaging |
Het |
| Dysf |
A |
T |
6: 84,163,374 (GRCm39) |
I1570F |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,475,493 (GRCm39) |
C275S |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,334,102 (GRCm39) |
S1031A |
possibly damaging |
Het |
| Gga2 |
T |
C |
7: 121,588,939 (GRCm39) |
D596G |
probably damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,100 (GRCm39) |
Y365S |
possibly damaging |
Het |
| Gipr |
T |
A |
7: 18,896,809 (GRCm39) |
I154F |
probably damaging |
Het |
| Gm5478 |
A |
T |
15: 101,553,632 (GRCm39) |
I284N |
possibly damaging |
Het |
| Gnat1 |
A |
T |
9: 107,553,827 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,650,569 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,088,044 (GRCm39) |
I1554N |
|
Het |
| Mycbp2 |
T |
A |
14: 103,412,417 (GRCm39) |
T2519S |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,797,352 (GRCm39) |
V1604M |
possibly damaging |
Het |
| Mypop |
C |
T |
7: 18,725,922 (GRCm39) |
|
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,118,479 (GRCm39) |
V774E |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,814,678 (GRCm39) |
V262A |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,113,965 (GRCm39) |
V637D |
probably damaging |
Het |
| Or1e16 |
T |
C |
11: 73,286,544 (GRCm39) |
I101M |
probably benign |
Het |
| Or4f52 |
A |
G |
2: 111,061,784 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,140 (GRCm39) |
V72A |
probably benign |
Het |
| Pcdhgb8 |
A |
T |
18: 37,896,201 (GRCm39) |
I424F |
possibly damaging |
Het |
| Phf7 |
A |
C |
14: 30,961,183 (GRCm39) |
W231G |
probably damaging |
Het |
| Plagl1 |
A |
G |
10: 13,003,977 (GRCm39) |
|
probably benign |
Het |
| Plat |
A |
T |
8: 23,262,327 (GRCm39) |
D117V |
probably benign |
Het |
| Prkag2 |
T |
C |
5: 25,152,564 (GRCm39) |
Y180C |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,395,654 (GRCm39) |
I1927T |
possibly damaging |
Het |
| Ptchd1 |
T |
A |
X: 154,357,708 (GRCm39) |
Y499F |
probably damaging |
Het |
| Rad17 |
T |
A |
13: 100,764,133 (GRCm39) |
D446V |
possibly damaging |
Het |
| Ralgapa2 |
G |
T |
2: 146,353,777 (GRCm39) |
Q15K |
probably damaging |
Het |
| Ret |
A |
G |
6: 118,140,247 (GRCm39) |
Y982H |
probably damaging |
Het |
| Rnf145 |
T |
A |
11: 44,452,583 (GRCm39) |
S521T |
probably damaging |
Het |
| Samd4 |
G |
A |
14: 47,326,620 (GRCm39) |
|
silent |
Het |
| Sardh |
T |
C |
2: 27,120,854 (GRCm39) |
D390G |
probably damaging |
Het |
| Saxo1 |
T |
C |
4: 86,363,359 (GRCm39) |
T375A |
probably damaging |
Het |
| Scly |
A |
G |
1: 91,236,125 (GRCm39) |
T126A |
probably damaging |
Het |
| Slc6a16 |
T |
A |
7: 44,910,251 (GRCm39) |
V307D |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,189,852 (GRCm39) |
C320R |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,426,147 (GRCm39) |
|
probably null |
Het |
| Sycp2l |
C |
T |
13: 41,310,973 (GRCm39) |
T645I |
unknown |
Het |
| Tpmt |
T |
C |
13: 47,193,584 (GRCm39) |
K72E |
probably damaging |
Het |
| Tsbp1 |
C |
T |
17: 34,679,305 (GRCm39) |
|
probably benign |
Het |
| Ube2q2l |
G |
A |
6: 136,378,347 (GRCm39) |
T161M |
possibly damaging |
Het |
| Vmn1r51 |
A |
T |
6: 90,106,207 (GRCm39) |
H41L |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,003,415 (GRCm39) |
I2900N |
probably damaging |
Het |
| Zfp663 |
A |
G |
2: 165,195,023 (GRCm39) |
S399P |
probably benign |
Het |
| Zfp692 |
T |
C |
11: 58,200,268 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ano4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00642:Ano4
|
APN |
10 |
88,790,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00916:Ano4
|
APN |
10 |
88,833,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01010:Ano4
|
APN |
10 |
88,796,462 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01015:Ano4
|
APN |
10 |
88,870,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01877:Ano4
|
APN |
10 |
88,860,932 (GRCm39) |
nonsense |
probably null |
0.00 |
|
IGL02310:Ano4
|
APN |
10 |
88,859,740 (GRCm39) |
nonsense |
probably null |
|
|
IGL02390:Ano4
|
APN |
10 |
88,860,843 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02560:Ano4
|
APN |
10 |
88,814,603 (GRCm39) |
nonsense |
probably null |
|
|
Dwindle
|
UTSW |
10 |
88,819,640 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB007:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
BB017:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
P0017:Ano4
|
UTSW |
10 |
88,817,052 (GRCm39) |
nonsense |
probably null |
|
|
PIT4486001:Ano4
|
UTSW |
10 |
88,828,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Ano4
|
UTSW |
10 |
88,788,154 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0380:Ano4
|
UTSW |
10 |
88,814,675 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0508:Ano4
|
UTSW |
10 |
88,816,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Ano4
|
UTSW |
10 |
88,859,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1802:Ano4
|
UTSW |
10 |
88,816,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Ano4
|
UTSW |
10 |
88,807,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Ano4
|
UTSW |
10 |
88,828,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2829:Ano4
|
UTSW |
10 |
88,948,801 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2880:Ano4
|
UTSW |
10 |
88,948,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3846:Ano4
|
UTSW |
10 |
88,831,114 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3904:Ano4
|
UTSW |
10 |
88,860,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4006:Ano4
|
UTSW |
10 |
88,924,125 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4429:Ano4
|
UTSW |
10 |
88,828,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4547:Ano4
|
UTSW |
10 |
88,817,032 (GRCm39) |
missense |
probably null |
|
|
R4638:Ano4
|
UTSW |
10 |
88,790,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4640:Ano4
|
UTSW |
10 |
88,790,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Ano4
|
UTSW |
10 |
88,948,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Ano4
|
UTSW |
10 |
88,948,807 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5104:Ano4
|
UTSW |
10 |
88,903,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5151:Ano4
|
UTSW |
10 |
88,948,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Ano4
|
UTSW |
10 |
89,153,165 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5396:Ano4
|
UTSW |
10 |
88,948,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5826:Ano4
|
UTSW |
10 |
88,788,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Ano4
|
UTSW |
10 |
88,865,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6036:Ano4
|
UTSW |
10 |
88,818,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6036:Ano4
|
UTSW |
10 |
88,818,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6037:Ano4
|
UTSW |
10 |
89,153,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6037:Ano4
|
UTSW |
10 |
89,153,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6222:Ano4
|
UTSW |
10 |
88,863,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6387:Ano4
|
UTSW |
10 |
88,807,267 (GRCm39) |
nonsense |
probably null |
|
|
R6521:Ano4
|
UTSW |
10 |
88,819,640 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6739:Ano4
|
UTSW |
10 |
88,863,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6786:Ano4
|
UTSW |
10 |
88,828,732 (GRCm39) |
splice site |
probably null |
|
|
R7523:Ano4
|
UTSW |
10 |
88,807,257 (GRCm39) |
nonsense |
probably null |
|
|
R7715:Ano4
|
UTSW |
10 |
88,831,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7930:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7955:Ano4
|
UTSW |
10 |
88,831,088 (GRCm39) |
missense |
probably null |
0.45 |
|
R7975:Ano4
|
UTSW |
10 |
88,952,847 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8005:Ano4
|
UTSW |
10 |
88,807,183 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8024:Ano4
|
UTSW |
10 |
88,807,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8168:Ano4
|
UTSW |
10 |
88,816,857 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8190:Ano4
|
UTSW |
10 |
88,808,607 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8206:Ano4
|
UTSW |
10 |
88,860,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8252:Ano4
|
UTSW |
10 |
88,816,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8285:Ano4
|
UTSW |
10 |
88,904,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8917:Ano4
|
UTSW |
10 |
88,788,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9302:Ano4
|
UTSW |
10 |
88,831,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9688:Ano4
|
UTSW |
10 |
89,180,506 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
T0970:Ano4
|
UTSW |
10 |
88,817,052 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Ano4
|
UTSW |
10 |
88,948,807 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGAGGCTACATTATATGGCCATG -3'
(R):5'- GCTGGACAAAGTGACAGATGTC -3'
Sequencing Primer
(F):5'- GCCATGGTGCTTTAGAAAGTCCATC -3'
(R):5'- ATATCGAGACTACCGGGA -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation