Incidental Mutation 'IGL01701:Tmem30a'
| ID |
104483 |
| 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 # |
IGL01701
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
79676223-79700712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79681461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 236
(F236Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034878]
[ENSMUST00000120690]
|
| AlphaFold |
Q8VEK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034878
AA Change: F272Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328
AA Change: F272Y
| 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: F236Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328
AA Change: F236Y
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,254,776 (GRCm39) |
Y36H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,567,750 (GRCm39) |
D5141G |
possibly damaging |
Het |
| Adk |
G |
A |
14: 21,153,922 (GRCm39) |
E42K |
probably damaging |
Het |
| Akap1 |
C |
A |
11: 88,735,958 (GRCm39) |
V268L |
probably benign |
Het |
| Arl6ip5 |
A |
G |
6: 97,187,774 (GRCm39) |
|
probably benign |
Het |
| Atrx |
A |
G |
X: 104,874,526 (GRCm39) |
S1945P |
probably damaging |
Het |
| Clec5a |
G |
A |
6: 40,559,160 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,232,741 (GRCm39) |
|
probably benign |
Het |
| Cul3 |
G |
T |
1: 80,255,140 (GRCm39) |
H6Q |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,669,012 (GRCm39) |
|
probably benign |
Het |
| Furin |
C |
A |
7: 80,042,240 (GRCm39) |
V452F |
probably benign |
Het |
| Furin |
T |
A |
7: 80,040,507 (GRCm39) |
D777V |
probably benign |
Het |
| Gm57859 |
T |
C |
11: 113,579,927 (GRCm39) |
F441L |
probably benign |
Het |
| Hmgb4 |
G |
A |
4: 128,154,166 (GRCm39) |
T134I |
probably benign |
Het |
| Ift74 |
A |
T |
4: 94,550,895 (GRCm39) |
E349V |
possibly damaging |
Het |
| Igkv6-23 |
A |
T |
6: 70,237,880 (GRCm39) |
L13Q |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,591,425 (GRCm39) |
Y54F |
probably damaging |
Het |
| Lman1 |
A |
T |
18: 66,127,921 (GRCm39) |
V241E |
possibly damaging |
Het |
| Mat1a |
T |
A |
14: 40,836,772 (GRCm39) |
D167E |
probably benign |
Het |
| Myl6 |
G |
A |
10: 128,327,966 (GRCm39) |
A130V |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,791,877 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
A |
T |
13: 65,347,223 (GRCm39) |
W12R |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,314,669 (GRCm39) |
R276G |
probably benign |
Het |
| Or4f61 |
T |
C |
2: 111,922,851 (GRCm39) |
N65S |
possibly damaging |
Het |
| Or5m13b |
C |
A |
2: 85,754,421 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Pag1 |
C |
T |
3: 9,758,886 (GRCm39) |
E411K |
probably damaging |
Het |
| Prorp |
T |
G |
12: 55,355,660 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,082,339 (GRCm39) |
N1422D |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,759,235 (GRCm39) |
R3345Q |
probably damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,361,280 (GRCm39) |
L85P |
probably damaging |
Het |
| Slc22a17 |
T |
C |
14: 55,144,718 (GRCm39) |
H565R |
probably damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,108 (GRCm39) |
T245A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,358,665 (GRCm39) |
H33R |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,847,318 (GRCm39) |
V1260A |
probably benign |
Het |
| Trim30b |
A |
C |
7: 104,015,258 (GRCm39) |
Y43* |
probably null |
Het |
| Trpc3 |
T |
C |
3: 36,725,743 (GRCm39) |
K78E |
possibly damaging |
Het |
| Twist2 |
A |
T |
1: 91,729,736 (GRCm39) |
M130L |
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,377,804 (GRCm39) |
Y342F |
probably 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 |
|
|
IGL02043:Tmem30a
|
APN |
9 |
79,681,371 (GRCm39) |
splice site |
probably benign |
|
|
IGL02319:Tmem30a
|
APN |
9 |
79,681,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation