Incidental Mutation 'R8413:Tmem30a'
ID |
652793 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem30a
|
Ensembl Gene |
ENSMUSG00000032328 |
Gene Name |
transmembrane protein 30A |
Synonyms |
Cdc50a, 2010200I23Rik, D9Wsu20e |
MMRRC Submission |
067767-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8413 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
79676223-79700712 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 79683507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 157
(C157S)
|
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: C157S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034878 Gene: ENSMUSG00000032328 AA Change: C157S
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: C121S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114042 Gene: ENSMUSG00000032328 AA Change: C121S
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
Pfam:CDC50
|
50 |
325 |
3.4e-92 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,023,123 (GRCm39) |
D86E |
probably benign |
Het |
Adamts5 |
A |
G |
16: 85,663,506 (GRCm39) |
|
probably null |
Het |
Arhgap31 |
T |
C |
16: 38,423,283 (GRCm39) |
R928G |
possibly damaging |
Het |
Birc6 |
T |
C |
17: 74,853,388 (GRCm39) |
V164A |
possibly damaging |
Het |
Cdh26 |
T |
A |
2: 178,110,022 (GRCm39) |
H438Q |
probably damaging |
Het |
Cfap65 |
T |
A |
1: 74,956,328 (GRCm39) |
K1084* |
probably null |
Het |
Csmd1 |
T |
C |
8: 15,950,676 (GRCm39) |
H3511R |
probably damaging |
Het |
Ebf1 |
T |
A |
11: 44,534,274 (GRCm39) |
S178T |
possibly damaging |
Het |
Efcab3 |
A |
C |
11: 104,811,135 (GRCm39) |
K3192N |
unknown |
Het |
Eln |
A |
G |
5: 134,755,375 (GRCm39) |
V226A |
unknown |
Het |
Fat4 |
A |
T |
3: 39,063,128 (GRCm39) |
|
probably null |
Het |
Gcn1 |
C |
T |
5: 115,717,698 (GRCm39) |
T222I |
probably benign |
Het |
Gm5624 |
T |
G |
14: 44,799,347 (GRCm39) |
N70T |
|
Het |
Gpc6 |
T |
A |
14: 118,129,761 (GRCm39) |
V387E |
possibly damaging |
Het |
Gyg1 |
C |
T |
3: 20,179,619 (GRCm39) |
V255M |
probably damaging |
Het |
Henmt1 |
T |
A |
3: 108,864,965 (GRCm39) |
F146I |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,330,900 (GRCm39) |
L1736Q |
probably damaging |
Het |
Kcnh4 |
A |
G |
11: 100,640,619 (GRCm39) |
V469A |
possibly damaging |
Het |
Mybpc2 |
A |
G |
7: 44,157,729 (GRCm39) |
L750P |
probably damaging |
Het |
Naalad2 |
A |
G |
9: 18,241,939 (GRCm39) |
V655A |
probably damaging |
Het |
Nme8 |
C |
T |
13: 19,858,689 (GRCm39) |
D289N |
probably benign |
Het |
Or12k5 |
T |
G |
2: 36,895,402 (GRCm39) |
T75P |
probably damaging |
Het |
Or2t6 |
A |
G |
14: 14,175,416 (GRCm38) |
V222A |
probably benign |
Het |
Or4c104 |
T |
A |
2: 88,587,024 (GRCm39) |
|
probably benign |
Het |
Or4k15 |
C |
G |
14: 50,364,827 (GRCm39) |
S264R |
probably benign |
Het |
Or5aq6 |
T |
C |
2: 86,923,502 (GRCm39) |
K80E |
probably benign |
Het |
Or8g30 |
T |
A |
9: 39,230,401 (GRCm39) |
K170* |
probably null |
Het |
Phf24 |
T |
A |
4: 42,937,906 (GRCm39) |
C173* |
probably null |
Het |
Plcb2 |
A |
G |
2: 118,549,304 (GRCm39) |
F353L |
probably damaging |
Het |
Prss33 |
C |
A |
17: 24,052,930 (GRCm39) |
W248L |
probably damaging |
Het |
Rgs3 |
T |
G |
4: 62,544,254 (GRCm39) |
L350R |
possibly damaging |
Het |
Samd11 |
C |
T |
4: 156,333,730 (GRCm39) |
G200D |
probably damaging |
Het |
Sh3tc2 |
T |
A |
18: 62,123,873 (GRCm39) |
V878E |
probably damaging |
Het |
Sh3tc2 |
G |
C |
18: 62,148,142 (GRCm39) |
G1284A |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,572,900 (GRCm39) |
S780P |
unknown |
Het |
Slc8a3 |
T |
C |
12: 81,361,452 (GRCm39) |
K456E |
probably damaging |
Het |
Smok2a |
T |
A |
17: 13,444,499 (GRCm39) |
H25Q |
probably benign |
Het |
Srrt |
A |
G |
5: 137,298,589 (GRCm39) |
L225P |
possibly damaging |
Het |
Stox1 |
C |
T |
10: 62,500,754 (GRCm39) |
R602Q |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,892,622 (GRCm39) |
S850P |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,809,849 (GRCm39) |
I1082V |
probably benign |
Het |
Ttll5 |
T |
A |
12: 85,965,895 (GRCm39) |
N646K |
probably benign |
Het |
Vmn1r179 |
A |
T |
7: 23,628,277 (GRCm39) |
Y156F |
probably benign |
Het |
Vmn1r54 |
T |
A |
6: 90,246,413 (GRCm39) |
L109H |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,115,953 (GRCm39) |
I617V |
probably benign |
Het |
Zeb2 |
T |
A |
2: 44,886,183 (GRCm39) |
Q958L |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAATGTCATGATCCCATTCATAG -3'
(R):5'- GGCAAACATTTGAAGACTGGAC -3'
Sequencing Primer
(F):5'- ATAGTACTGACTACTCCGTAGCG -3'
(R):5'- CCAGACATGGTGATGCATACCTG -3'
|
Posted On |
2020-10-20 |