Incidental Mutation 'R5104:Ano4'
| ID |
392568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano4
|
| Ensembl Gene |
ENSMUSG00000035189 |
| Gene Name |
anoctamin 4 |
| Synonyms |
Tmem16d, A330096O15Rik |
| MMRRC Submission |
042692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5104 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88903974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 241
(Q241L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000181976]
[ENSMUST00000182341]
[ENSMUST00000182419]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
[ENSMUST00000183268]
|
| AlphaFold |
Q8C5H1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181976
AA Change: Q241L
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182041
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182341
AA Change: Q241L
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: Q241L
| 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: ENSMUST00000182419
|
| SMART Domains |
Protein: ENSMUSP00000138435
Gene: ENSMUSG00000035189
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182462
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182613
AA Change: Q206L
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: Q206L
| 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 benign
Transcript: ENSMUST00000182790
AA Change: Q206L
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: Q206L
| 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 benign
Transcript: ENSMUST00000183268
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.0%
|
| Validation Efficiency |
|
| 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 |
|---|
| Adarb1 |
A |
G |
10: 77,158,121 (GRCm39) |
F109L |
probably damaging |
Het |
| Apof |
C |
T |
10: 128,105,487 (GRCm39) |
R214* |
probably null |
Het |
| Armh4 |
A |
T |
14: 50,010,929 (GRCm39) |
D259E |
possibly damaging |
Het |
| Atl2 |
A |
T |
17: 80,160,046 (GRCm39) |
S47T |
probably benign |
Het |
| Azgp1 |
T |
G |
5: 137,985,815 (GRCm39) |
I146S |
probably damaging |
Het |
| Bicral |
G |
A |
17: 47,112,182 (GRCm39) |
T1006I |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,729 (GRCm39) |
N540I |
probably damaging |
Het |
| Ccdc77 |
T |
C |
6: 120,325,346 (GRCm39) |
|
probably null |
Het |
| Cxcr5 |
G |
T |
9: 44,424,616 (GRCm39) |
P347Q |
probably benign |
Het |
| Cyp4a14 |
T |
G |
4: 115,353,126 (GRCm39) |
H62P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 37,126,509 (GRCm39) |
E157G |
possibly damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
A |
G |
17: 74,134,442 (GRCm39) |
N267S |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,933,973 (GRCm39) |
Y58C |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,169,814 (GRCm39) |
Y2982H |
possibly damaging |
Het |
| Frmd3 |
C |
A |
4: 74,063,315 (GRCm39) |
A214D |
probably damaging |
Het |
| Gabrg1 |
A |
C |
5: 70,931,775 (GRCm39) |
S323A |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,228,007 (GRCm39) |
I592V |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,592,462 (GRCm39) |
Q107* |
probably null |
Het |
| Gm29609 |
T |
C |
5: 31,311,638 (GRCm39) |
|
probably null |
Het |
| Gpam |
A |
T |
19: 55,082,418 (GRCm39) |
F78I |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,515,377 (GRCm39) |
R252G |
probably damaging |
Het |
| Hsd3b5 |
T |
A |
3: 98,526,592 (GRCm39) |
S285C |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,507 (GRCm39) |
K37E |
possibly damaging |
Het |
| Igkv8-34 |
T |
C |
6: 70,021,138 (GRCm39) |
D108G |
probably damaging |
Het |
| Il6st |
C |
G |
13: 112,625,182 (GRCm39) |
T266S |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,776,138 (GRCm39) |
T307A |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,269,265 (GRCm39) |
R2552C |
probably damaging |
Het |
| Krt4 |
T |
A |
15: 101,828,758 (GRCm39) |
R369W |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,883,964 (GRCm39) |
M8K |
probably damaging |
Het |
| Lrit3 |
T |
A |
3: 129,582,040 (GRCm39) |
H528L |
possibly damaging |
Het |
| Mia3 |
A |
G |
1: 183,119,579 (GRCm39) |
L157S |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,622,140 (GRCm39) |
Y32* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,987,348 (GRCm39) |
Y381H |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,268,159 (GRCm39) |
V475A |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,976,246 (GRCm39) |
I347M |
probably benign |
Het |
| Or11h4b |
T |
A |
14: 50,918,159 (GRCm39) |
K311* |
probably null |
Het |
| Or2ag17 |
A |
T |
7: 106,389,539 (GRCm39) |
F223Y |
possibly damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or2y3 |
A |
T |
17: 38,393,174 (GRCm39) |
S232T |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,885,507 (GRCm39) |
I420K |
probably benign |
Het |
| Pi4ka |
C |
T |
16: 17,098,914 (GRCm39) |
C1990Y |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,655,415 (GRCm39) |
Q223L |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,575,964 (GRCm39) |
|
probably null |
Het |
| Proz |
A |
G |
8: 13,116,931 (GRCm39) |
D161G |
probably damaging |
Het |
| Ptprb |
C |
A |
10: 116,158,364 (GRCm39) |
H765Q |
probably benign |
Het |
| Relch |
T |
C |
1: 105,658,965 (GRCm39) |
V883A |
probably benign |
Het |
| Rffl |
A |
T |
11: 82,703,619 (GRCm39) |
C101* |
probably null |
Het |
| Rfx5 |
C |
T |
3: 94,862,451 (GRCm39) |
T36I |
probably benign |
Het |
| Rnase12 |
C |
A |
14: 51,294,361 (GRCm39) |
C106F |
probably damaging |
Het |
| Samd3 |
T |
C |
10: 26,139,686 (GRCm39) |
S273P |
possibly damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,175 (GRCm39) |
D841G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,260,908 (GRCm39) |
E607G |
probably null |
Het |
| Snrnp40 |
G |
T |
4: 130,258,958 (GRCm39) |
G122V |
possibly damaging |
Het |
| Snx25 |
T |
C |
8: 46,521,203 (GRCm39) |
*143W |
probably null |
Het |
| Taf15 |
A |
G |
11: 83,378,222 (GRCm39) |
Y154C |
probably damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,105,756 (GRCm39) |
V333A |
possibly damaging |
Het |
| Tiam1 |
A |
G |
16: 89,614,929 (GRCm39) |
S2P |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,925,142 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
T |
C |
14: 123,170,257 (GRCm39) |
D585G |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,264,114 (GRCm39) |
S34P |
probably benign |
Het |
| Trbv13-2 |
T |
C |
6: 41,098,745 (GRCm39) |
Y107H |
probably damaging |
Het |
| Tuba3a |
A |
G |
6: 125,259,347 (GRCm39) |
V115A |
probably benign |
Het |
| Tut1 |
A |
G |
19: 8,936,698 (GRCm39) |
E174G |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,768,600 (GRCm39) |
M469K |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,805,591 (GRCm39) |
|
probably benign |
Het |
| Wapl |
C |
T |
14: 34,414,016 (GRCm39) |
Q293* |
probably null |
Het |
| Wdr24 |
A |
G |
17: 26,043,565 (GRCm39) |
H129R |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,757,895 (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 |
|
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 |
|
|
R7035:Ano4
|
UTSW |
10 |
88,790,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CAGCATGGAAGGTGTGATCC -3'
(R):5'- CAGAGTGATGTTGACTTGATGTATCC -3'
Sequencing Primer
(F):5'- TCTGAGCACTGTGAACTGAC -3'
(R):5'- GACTTGATGTATCCTTTGATCTTGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation