Incidental Mutation 'IGL00579:Pacc1'
ID |
7296 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pacc1
|
Ensembl Gene |
ENSMUSG00000026627 |
Gene Name |
proton activated chloride channel 1 |
Synonyms |
Tmem206, 2310028N02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
IGL00579
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
191058109-191083111 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 191060405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 21
(V21A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027940
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027940]
|
AlphaFold |
Q9D771 |
Predicted Effect |
unknown
Transcript: ENSMUST00000027940
AA Change: V21A
|
SMART Domains |
Protein: ENSMUSP00000027940 Gene: ENSMUSG00000026627 AA Change: V21A
Domain | Start | End | E-Value | Type |
coiled coil region
|
2 |
36 |
N/A |
INTRINSIC |
Pfam:TMEM206
|
55 |
349 |
7.2e-173 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
T |
C |
5: 24,773,794 (GRCm39) |
E365G |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,152,100 (GRCm39) |
Y197H |
probably benign |
Het |
Cept1 |
A |
T |
3: 106,413,119 (GRCm39) |
V202E |
possibly damaging |
Het |
Cfap53 |
A |
T |
18: 74,438,611 (GRCm39) |
K263* |
probably null |
Het |
Dennd3 |
T |
C |
15: 73,412,691 (GRCm39) |
I451T |
possibly damaging |
Het |
Dync2h1 |
A |
C |
9: 7,035,728 (GRCm39) |
|
probably benign |
Het |
Egf |
T |
A |
3: 129,491,447 (GRCm39) |
H850L |
probably benign |
Het |
Gm11595 |
T |
C |
11: 99,662,868 (GRCm39) |
T271A |
unknown |
Het |
Gorab |
T |
C |
1: 163,222,256 (GRCm39) |
E142G |
probably damaging |
Het |
Gpat4 |
A |
G |
8: 23,672,791 (GRCm39) |
S20P |
probably damaging |
Het |
Gpr83 |
T |
C |
9: 14,771,897 (GRCm39) |
V23A |
probably benign |
Het |
Il13ra2 |
A |
G |
X: 146,177,386 (GRCm39) |
Y146H |
probably damaging |
Het |
Kcnj16 |
C |
T |
11: 110,916,034 (GRCm39) |
T232M |
probably benign |
Het |
Mdfic |
A |
T |
6: 15,741,073 (GRCm39) |
I61F |
possibly damaging |
Het |
Mmp3 |
G |
T |
9: 7,445,894 (GRCm39) |
|
probably benign |
Het |
Olr1 |
C |
T |
6: 129,470,486 (GRCm39) |
R227K |
probably benign |
Het |
Otof |
T |
A |
5: 30,556,666 (GRCm39) |
I257F |
possibly damaging |
Het |
Oxsr1 |
T |
A |
9: 119,088,277 (GRCm39) |
R43S |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,482,103 (GRCm39) |
D382G |
probably damaging |
Het |
Slc35b2 |
G |
T |
17: 45,875,886 (GRCm39) |
V81L |
probably damaging |
Het |
Thumpd3 |
G |
A |
6: 113,024,622 (GRCm39) |
R72H |
possibly damaging |
Het |
Tsga10 |
G |
A |
1: 37,874,534 (GRCm39) |
T117I |
probably damaging |
Het |
Vps13a |
T |
A |
19: 16,684,726 (GRCm39) |
T953S |
probably benign |
Het |
Wdr62 |
A |
C |
7: 29,967,320 (GRCm39) |
C311W |
probably damaging |
Het |
Wdr74 |
A |
G |
19: 8,716,830 (GRCm39) |
T247A |
possibly damaging |
Het |
Zbtb26 |
A |
T |
2: 37,326,454 (GRCm39) |
V194D |
possibly damaging |
Het |
Zfp639 |
A |
T |
3: 32,574,626 (GRCm39) |
E417V |
probably damaging |
Het |
|
Other mutations in Pacc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02318:Pacc1
|
APN |
1 |
191,080,605 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03180:Pacc1
|
APN |
1 |
191,071,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R1301:Pacc1
|
UTSW |
1 |
191,080,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R1445:Pacc1
|
UTSW |
1 |
191,080,559 (GRCm39) |
unclassified |
probably benign |
|
R1463:Pacc1
|
UTSW |
1 |
191,060,486 (GRCm39) |
splice site |
probably benign |
|
R1610:Pacc1
|
UTSW |
1 |
191,077,262 (GRCm39) |
missense |
probably benign |
0.04 |
R2149:Pacc1
|
UTSW |
1 |
191,077,306 (GRCm39) |
missense |
probably benign |
0.04 |
R4418:Pacc1
|
UTSW |
1 |
191,080,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4825:Pacc1
|
UTSW |
1 |
191,073,040 (GRCm39) |
missense |
probably damaging |
0.97 |
R5274:Pacc1
|
UTSW |
1 |
191,080,665 (GRCm39) |
missense |
probably damaging |
0.99 |
R5842:Pacc1
|
UTSW |
1 |
191,078,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R5956:Pacc1
|
UTSW |
1 |
191,080,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R6031:Pacc1
|
UTSW |
1 |
191,073,037 (GRCm39) |
missense |
probably benign |
0.09 |
R6031:Pacc1
|
UTSW |
1 |
191,073,037 (GRCm39) |
missense |
probably benign |
0.09 |
R7500:Pacc1
|
UTSW |
1 |
191,078,910 (GRCm39) |
splice site |
probably null |
|
R7670:Pacc1
|
UTSW |
1 |
191,073,065 (GRCm39) |
missense |
probably benign |
0.19 |
R9331:Pacc1
|
UTSW |
1 |
191,077,318 (GRCm39) |
critical splice donor site |
probably null |
|
R9516:Pacc1
|
UTSW |
1 |
191,082,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R9539:Pacc1
|
UTSW |
1 |
191,077,174 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-04-20 |