Incidental Mutation 'IGL01300:Tmem30a'
ID |
75249 |
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 # |
IGL01300
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
79676223-79700712 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 79682382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114042
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034878]
[ENSMUST00000120690]
|
AlphaFold |
Q8VEK0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034878
|
SMART Domains |
Protein: ENSMUSP00000034878 Gene: ENSMUSG00000032328
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 null
Transcript: ENSMUST00000120690
|
SMART Domains |
Protein: ENSMUSP00000114042 Gene: ENSMUSG00000032328
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa8 |
A |
G |
14: 33,821,700 (GRCm39) |
D300G |
probably benign |
Het |
Cacna1g |
T |
C |
11: 94,324,738 (GRCm39) |
H1161R |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,331,372 (GRCm39) |
R1471Q |
unknown |
Het |
Gm14496 |
A |
T |
2: 181,642,753 (GRCm39) |
E808V |
probably damaging |
Het |
Gm1968 |
T |
C |
16: 29,781,038 (GRCm39) |
|
noncoding transcript |
Het |
Gzmb |
G |
A |
14: 56,497,653 (GRCm39) |
R196C |
probably benign |
Het |
Hkdc1 |
A |
G |
10: 62,231,040 (GRCm39) |
|
probably benign |
Het |
Itgal |
T |
A |
7: 126,913,290 (GRCm39) |
V629E |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,287,083 (GRCm39) |
Y1050N |
probably damaging |
Het |
Lrrc69 |
C |
T |
4: 14,773,663 (GRCm39) |
|
probably benign |
Het |
Mmd |
T |
C |
11: 90,140,537 (GRCm39) |
M1T |
probably null |
Het |
Myh6 |
A |
G |
14: 55,200,548 (GRCm39) |
V191A |
possibly damaging |
Het |
Mynn |
A |
G |
3: 30,667,755 (GRCm39) |
N485S |
probably damaging |
Het |
Naa30 |
C |
T |
14: 49,410,714 (GRCm39) |
T214M |
probably damaging |
Het |
Ncoa3 |
A |
T |
2: 165,910,381 (GRCm39) |
T1265S |
probably benign |
Het |
Or10al2 |
C |
A |
17: 37,983,778 (GRCm39) |
T288K |
probably damaging |
Het |
Or1j10 |
T |
C |
2: 36,267,054 (GRCm39) |
S89P |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,480,327 (GRCm39) |
C138R |
possibly damaging |
Het |
Prom2 |
A |
T |
2: 127,377,009 (GRCm39) |
L535H |
probably benign |
Het |
Pros1 |
T |
C |
16: 62,734,174 (GRCm39) |
F327L |
possibly damaging |
Het |
Ros1 |
A |
G |
10: 51,977,809 (GRCm39) |
M1479T |
probably benign |
Het |
Scn9a |
G |
A |
2: 66,318,397 (GRCm39) |
Q1465* |
probably null |
Het |
Serpinb3b |
A |
G |
1: 107,083,573 (GRCm39) |
|
probably benign |
Het |
Sipa1l3 |
G |
A |
7: 29,099,253 (GRCm39) |
Q339* |
probably null |
Het |
Slc34a2 |
A |
C |
5: 53,225,469 (GRCm39) |
|
probably null |
Het |
Smc3 |
T |
A |
19: 53,630,283 (GRCm39) |
|
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,954,903 (GRCm39) |
D878E |
probably benign |
Het |
Trrap |
C |
T |
5: 144,741,628 (GRCm39) |
T1325M |
probably damaging |
Het |
Ttc12 |
A |
T |
9: 49,359,222 (GRCm39) |
|
probably benign |
Het |
Vmn1r237 |
T |
A |
17: 21,534,337 (GRCm39) |
I20N |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
Vmn2r74 |
A |
G |
7: 85,606,414 (GRCm39) |
Y311H |
probably benign |
Het |
Vnn3 |
T |
A |
10: 23,740,263 (GRCm39) |
F189I |
possibly damaging |
Het |
|
Other mutations in Tmem30a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-10-07 |