Incidental Mutation 'R4429:Ano4'
| ID |
328331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano4
|
| Ensembl Gene |
ENSMUSG00000035189 |
| Gene Name |
anoctamin 4 |
| Synonyms |
Tmem16d, A330096O15Rik |
| MMRRC Submission |
041699-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88828804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 545
(N545I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
| AlphaFold |
Q8C5H1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182341
AA Change: N545I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: N545I
| 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 |
possibly damaging
Transcript: ENSMUST00000182598
AA Change: N60I
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182613
AA Change: N510I
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: N510I
| 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: N510I
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: N510I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
|
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182888
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,202,236 (GRCm39) |
T390A |
probably benign |
Het |
| Ahcyl2 |
T |
G |
6: 29,894,874 (GRCm39) |
V452G |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Catip |
T |
A |
1: 74,407,891 (GRCm39) |
|
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cnpy3 |
T |
A |
17: 47,058,070 (GRCm39) |
Q111L |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,971,120 (GRCm39) |
N2725D |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
| Ephb3 |
G |
A |
16: 21,033,213 (GRCm39) |
E66K |
probably damaging |
Het |
| Gm6594 |
T |
A |
17: 82,846,923 (GRCm39) |
D79E |
probably benign |
Het |
| Gtf2e2 |
T |
A |
8: 34,242,521 (GRCm39) |
Y74* |
probably null |
Het |
| Hacd4 |
A |
T |
4: 88,353,184 (GRCm39) |
F103I |
possibly damaging |
Het |
| Hap1 |
T |
C |
11: 100,245,098 (GRCm39) |
T38A |
probably benign |
Het |
| Havcr2 |
T |
A |
11: 46,347,387 (GRCm39) |
D72E |
probably damaging |
Het |
| Iqcg |
G |
A |
16: 32,839,860 (GRCm39) |
T362I |
probably benign |
Het |
| Lect2 |
C |
T |
13: 56,693,538 (GRCm39) |
|
probably null |
Het |
| Lemd3 |
T |
C |
10: 120,813,893 (GRCm39) |
T447A |
probably benign |
Het |
| Lrrc72 |
T |
C |
12: 36,258,623 (GRCm39) |
N78S |
probably damaging |
Het |
| Map3k14 |
A |
G |
11: 103,118,410 (GRCm39) |
L592P |
probably damaging |
Het |
| Meioc |
T |
C |
11: 102,566,546 (GRCm39) |
Y721H |
probably damaging |
Het |
| Mrps10 |
T |
A |
17: 47,689,124 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
G |
9: 75,201,283 (GRCm39) |
Y1406C |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,702,395 (GRCm39) |
Y2098C |
probably damaging |
Het |
| Nol9 |
C |
T |
4: 152,125,631 (GRCm39) |
T194I |
probably damaging |
Het |
| Nox3 |
G |
A |
17: 3,733,233 (GRCm39) |
T206I |
probably benign |
Het |
| Nsd2 |
T |
G |
5: 34,000,546 (GRCm39) |
M21R |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,820 (GRCm39) |
N327S |
probably damaging |
Het |
| Pclo |
T |
G |
5: 14,728,114 (GRCm39) |
|
probably benign |
Het |
| Pparg |
T |
A |
6: 115,416,984 (GRCm39) |
M59K |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,613,796 (GRCm39) |
K1116R |
probably damaging |
Het |
| Rhbdf1 |
C |
T |
11: 32,163,369 (GRCm39) |
E368K |
probably benign |
Het |
| Rita1 |
A |
G |
5: 120,747,626 (GRCm39) |
V224A |
probably damaging |
Het |
| Rsph6a |
T |
A |
7: 18,807,988 (GRCm39) |
W384R |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,181,329 (GRCm39) |
Y65N |
possibly damaging |
Het |
| Serpina5 |
C |
A |
12: 104,069,665 (GRCm39) |
F292L |
probably benign |
Het |
| Sf3b3 |
A |
C |
8: 111,552,750 (GRCm39) |
L511V |
probably benign |
Het |
| Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
| Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
| Slco6d1 |
T |
C |
1: 98,424,091 (GRCm39) |
V581A |
possibly damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,788,383 (GRCm39) |
Y1121H |
probably damaging |
Het |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Timm29 |
G |
C |
9: 21,504,775 (GRCm39) |
A148P |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
| Uba6 |
C |
T |
5: 86,268,406 (GRCm39) |
V941I |
probably damaging |
Het |
| Vmn1r174 |
T |
C |
7: 23,453,565 (GRCm39) |
V77A |
probably benign |
Het |
| Zfp661 |
A |
G |
2: 127,420,628 (GRCm39) |
V57A |
probably damaging |
Het |
| Zfp867 |
C |
T |
11: 59,355,863 (GRCm39) |
D64N |
possibly damaging |
Het |
| Zp3r |
T |
C |
1: 130,519,128 (GRCm39) |
T294A |
possibly damaging |
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 |
|
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 |
|
|
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'- AAGTGCTTCATCACAGATCGTC -3'
(R):5'- GGAAAGTGCACTCTTGTGGG -3'
Sequencing Primer
(F):5'- CAGATCGTCTGCCTTGACTG -3'
(R):5'- TCTGGAAGCAGCAGCAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation