Incidental Mutation 'IGL02319:Tmem30a'
| ID |
288173 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem30a
|
| Ensembl Gene |
ENSMUSG00000032328 |
| Gene Name |
transmembrane protein 30A |
| Synonyms |
Cdc50a, 2010200I23Rik, D9Wsu20e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02319
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
79676223-79700712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79681485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 264
(M264K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034878]
[ENSMUST00000120690]
|
| AlphaFold |
Q8VEK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034878
AA Change: M264K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328
AA Change: M264K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
Pfam:CDC50
|
69 |
358 |
1.3e-98 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120690
AA Change: M228K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328
AA Change: M228K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
Pfam:CDC50
|
50 |
325 |
3.4e-92 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153815
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Conditional homozygous knockout in the liver leads to jaundice, increased bilirubin and bile salt levels, liver inflammation and liver fibrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
C |
10: 106,784,611 (GRCm39) |
Y537C |
probably damaging |
Het |
| Ambra1 |
A |
G |
2: 91,717,265 (GRCm39) |
H854R |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,570,116 (GRCm39) |
N981S |
probably benign |
Het |
| Atp6v1d |
A |
G |
12: 78,908,230 (GRCm39) |
S2P |
probably damaging |
Het |
| Cd59a |
A |
T |
2: 103,944,373 (GRCm39) |
I74F |
possibly damaging |
Het |
| Chek2 |
T |
C |
5: 111,014,877 (GRCm39) |
Y449H |
possibly damaging |
Het |
| Ctif |
C |
T |
18: 75,654,944 (GRCm39) |
|
probably benign |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,946 (GRCm39) |
E403G |
probably damaging |
Het |
| Dock1 |
T |
G |
7: 134,374,178 (GRCm39) |
V608G |
possibly damaging |
Het |
| Fcf1 |
T |
C |
12: 85,017,982 (GRCm39) |
|
probably null |
Het |
| Fgf17 |
T |
G |
14: 70,874,183 (GRCm39) |
Q202P |
possibly damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,868,924 (GRCm39) |
L501Q |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klra6 |
A |
T |
6: 130,002,177 (GRCm39) |
S2R |
probably damaging |
Het |
| Krtap19-9b |
T |
A |
16: 88,729,002 (GRCm39) |
Y33F |
unknown |
Het |
| Lpcat4 |
G |
A |
2: 112,074,229 (GRCm39) |
V264M |
probably damaging |
Het |
| Lyzl6 |
T |
C |
11: 103,525,862 (GRCm39) |
Y86C |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,939,005 (GRCm39) |
K1669E |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,893,159 (GRCm39) |
V1558A |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,140 (GRCm39) |
I223T |
probably damaging |
Het |
| Or51l14 |
G |
A |
7: 103,101,474 (GRCm39) |
C310Y |
probably benign |
Het |
| Or5b105 |
A |
G |
19: 13,080,026 (GRCm39) |
I214T |
probably benign |
Het |
| Or8b47 |
T |
A |
9: 38,435,166 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex11b |
T |
C |
3: 96,550,885 (GRCm39) |
|
probably benign |
Het |
| Rbm5 |
A |
T |
9: 107,621,064 (GRCm39) |
L689* |
probably null |
Het |
| Rd3 |
G |
T |
1: 191,715,452 (GRCm39) |
G76C |
probably null |
Het |
| Rgs16 |
A |
T |
1: 153,617,852 (GRCm39) |
I121F |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,426,695 (GRCm39) |
E127G |
probably damaging |
Het |
| Trmt11 |
A |
T |
10: 30,436,869 (GRCm39) |
D290E |
probably damaging |
Het |
| Wdr35 |
C |
A |
12: 9,077,480 (GRCm39) |
|
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,214,914 (GRCm39) |
S1211P |
possibly damaging |
Het |
|
| Other mutations in Tmem30a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01300:Tmem30a
|
APN |
9 |
79,682,382 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01701:Tmem30a
|
APN |
9 |
79,681,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02043:Tmem30a
|
APN |
9 |
79,681,371 (GRCm39) |
splice site |
probably benign |
|
|
IGL02629:Tmem30a
|
APN |
9 |
79,683,531 (GRCm39) |
splice site |
probably benign |
|
|
IGL02983:Tmem30a
|
APN |
9 |
79,678,725 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Imbroglio
|
UTSW |
9 |
79,681,547 (GRCm39) |
nonsense |
probably null |
|
|
ladyfinger
|
UTSW |
9 |
79,681,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Tmem30a
|
UTSW |
9 |
79,678,576 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0496:Tmem30a
|
UTSW |
9 |
79,684,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0498:Tmem30a
|
UTSW |
9 |
79,681,376 (GRCm39) |
nonsense |
probably null |
|
|
R1546:Tmem30a
|
UTSW |
9 |
79,678,570 (GRCm39) |
makesense |
probably null |
|
|
R1648:Tmem30a
|
UTSW |
9 |
79,700,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Tmem30a
|
UTSW |
9 |
79,681,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Tmem30a
|
UTSW |
9 |
79,681,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Tmem30a
|
UTSW |
9 |
79,681,446 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2260:Tmem30a
|
UTSW |
9 |
79,681,446 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4491:Tmem30a
|
UTSW |
9 |
79,684,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4492:Tmem30a
|
UTSW |
9 |
79,684,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Tmem30a
|
UTSW |
9 |
79,683,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5433:Tmem30a
|
UTSW |
9 |
79,687,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6707:Tmem30a
|
UTSW |
9 |
79,681,547 (GRCm39) |
nonsense |
probably null |
|
|
R7662:Tmem30a
|
UTSW |
9 |
79,682,513 (GRCm39) |
missense |
probably benign |
|
|
R7732:Tmem30a
|
UTSW |
9 |
79,687,826 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8100:Tmem30a
|
UTSW |
9 |
79,681,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8202:Tmem30a
|
UTSW |
9 |
79,681,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8413:Tmem30a
|
UTSW |
9 |
79,683,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9092:Tmem30a
|
UTSW |
9 |
79,678,581 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9621:Tmem30a
|
UTSW |
9 |
79,687,926 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9760:Tmem30a
|
UTSW |
9 |
79,687,874 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2015-04-16 |
Incidental Mutation