Incidental Mutation 'R6018:Ano4'
| ID |
478722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano4
|
| Ensembl Gene |
ENSMUSG00000035189 |
| Gene Name |
anoctamin 4 |
| Synonyms |
Tmem16d, A330096O15Rik |
| MMRRC Submission |
044192-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6018 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88865128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 297
(L297P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
| AlphaFold |
Q8C5H1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182341
AA Change: L297P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: L297P
| 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 benign
Transcript: ENSMUST00000182613
AA Change: L262P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: L262P
| 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: L262P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: L262P
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,210,448 (GRCm39) |
Y155N |
probably damaging |
Het |
| 1700019A02Rik |
C |
T |
1: 53,202,405 (GRCm39) |
|
probably null |
Het |
| 2310022B05Rik |
A |
G |
8: 125,365,853 (GRCm39) |
F297L |
probably benign |
Het |
| Acbd3 |
T |
C |
1: 180,579,903 (GRCm39) |
S516P |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,190 (GRCm39) |
N227S |
probably damaging |
Het |
| Ak6 |
C |
T |
13: 100,802,459 (GRCm39) |
Q151* |
probably null |
Het |
| Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
| Ap5s1 |
G |
A |
2: 131,054,915 (GRCm39) |
W212* |
probably null |
Het |
| Arl9 |
A |
G |
5: 77,155,253 (GRCm39) |
Q113R |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,627,430 (GRCm39) |
H519R |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,125,579 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
G |
A |
10: 98,846,622 (GRCm39) |
A808T |
probably damaging |
Het |
| Bckdhb |
C |
A |
9: 83,951,237 (GRCm39) |
T342K |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,174,732 (GRCm39) |
H1996R |
probably benign |
Het |
| Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,926,235 (GRCm39) |
I1148M |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,937,414 (GRCm39) |
M766K |
probably benign |
Het |
| Ctnnd1 |
T |
A |
2: 84,480,812 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,499,436 (GRCm39) |
N41I |
probably damaging |
Het |
| D2hgdh |
G |
T |
1: 93,754,182 (GRCm39) |
V52L |
probably benign |
Het |
| Dppa4 |
T |
A |
16: 48,109,490 (GRCm39) |
Y77* |
probably null |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,481 (GRCm39) |
S770P |
probably damaging |
Het |
| Fbxl16 |
A |
T |
17: 26,036,709 (GRCm39) |
D230V |
probably damaging |
Het |
| Gm4847 |
G |
A |
1: 166,471,017 (GRCm39) |
A11V |
probably damaging |
Het |
| Gm9978 |
C |
T |
10: 78,322,915 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
G |
11: 102,371,741 (GRCm39) |
L599P |
unknown |
Het |
| Hdac4 |
A |
G |
1: 91,886,120 (GRCm39) |
L254P |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,419,828 (GRCm39) |
I384V |
probably benign |
Het |
| Heatr1 |
A |
T |
13: 12,420,939 (GRCm39) |
Q410L |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,260,804 (GRCm39) |
I1065V |
probably benign |
Het |
| Igkv6-14 |
A |
G |
6: 70,412,024 (GRCm39) |
S87P |
probably damaging |
Het |
| Il2rb |
G |
T |
15: 78,366,266 (GRCm39) |
Q344K |
possibly damaging |
Het |
| Ipo4 |
A |
G |
14: 55,863,609 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
A |
G |
1: 135,318,274 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
T |
C |
4: 129,613,887 (GRCm39) |
T374A |
probably benign |
Het |
| Lamc3 |
G |
T |
2: 31,795,724 (GRCm39) |
G370W |
probably damaging |
Het |
| Lipn |
T |
A |
19: 34,054,335 (GRCm39) |
L191Q |
probably damaging |
Het |
| Lpl |
T |
C |
8: 69,353,940 (GRCm39) |
V427A |
probably benign |
Het |
| Magi3 |
T |
C |
3: 104,013,128 (GRCm39) |
S120G |
probably damaging |
Het |
| Mgl2 |
T |
C |
11: 70,027,937 (GRCm39) |
*382Q |
probably null |
Het |
| Nab2 |
G |
A |
10: 127,500,793 (GRCm39) |
Q100* |
probably null |
Het |
| Nfat5 |
T |
A |
8: 108,082,283 (GRCm39) |
|
probably null |
Het |
| Nqo1 |
T |
C |
8: 108,115,500 (GRCm39) |
H259R |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,870,944 (GRCm39) |
D190E |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,815,148 (GRCm39) |
|
probably benign |
Het |
| Osmr |
G |
A |
15: 6,845,276 (GRCm39) |
P830L |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
| Pde11a |
T |
A |
2: 75,848,194 (GRCm39) |
M878L |
probably benign |
Het |
| Pik3ap1 |
T |
C |
19: 41,373,455 (GRCm39) |
|
probably benign |
Het |
| Pla2g3 |
T |
C |
11: 3,441,916 (GRCm39) |
L360P |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,779,710 (GRCm39) |
V244A |
probably benign |
Het |
| Pramel16 |
C |
T |
4: 143,677,469 (GRCm39) |
A37T |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,345,422 (GRCm39) |
V8A |
probably benign |
Het |
| Rbbp5 |
T |
C |
1: 132,422,078 (GRCm39) |
V199A |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,423,059 (GRCm39) |
V7A |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,720,889 (GRCm39) |
T1347A |
probably benign |
Het |
| Sgo2a |
T |
A |
1: 58,056,118 (GRCm39) |
H767Q |
probably benign |
Het |
| Sis |
G |
A |
3: 72,820,525 (GRCm39) |
P1413L |
possibly damaging |
Het |
| Slc22a5 |
G |
T |
11: 53,766,846 (GRCm39) |
A214E |
probably damaging |
Het |
| Snx13 |
G |
T |
12: 35,097,318 (GRCm39) |
|
probably benign |
Het |
| Sun5 |
T |
A |
2: 153,700,363 (GRCm39) |
I295F |
probably damaging |
Het |
| Themis3 |
C |
T |
17: 66,900,204 (GRCm39) |
A55T |
probably damaging |
Het |
| Tmem255b |
T |
C |
8: 13,505,138 (GRCm39) |
Y148H |
probably benign |
Het |
| Tmem74b |
A |
G |
2: 151,548,639 (GRCm39) |
E122G |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,710,756 (GRCm39) |
V862A |
probably damaging |
Het |
| Trim35 |
A |
T |
14: 66,546,199 (GRCm39) |
D322V |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,753,547 (GRCm39) |
F1319S |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,785,020 (GRCm39) |
R756S |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,268 (GRCm39) |
N645K |
possibly damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,521,875 (GRCm39) |
S155P |
possibly damaging |
Het |
| Vstm4 |
G |
A |
14: 32,585,627 (GRCm39) |
A65T |
probably benign |
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 |
|
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'- TGAATTCATGCTGGGTGACTC -3'
(R):5'- TTACTCACTACTGAGAAAACCCAGG -3'
Sequencing Primer
(F):5'- GACTCTTGATTTAAGCGTTCTTTCAG -3'
(R):5'- GAGAAAACCCAGGCTGTGTTTTCC -3'
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| Posted On |
2017-06-26 |
Incidental Mutation