Incidental Mutation 'R4492:Tmem30a'
| ID |
330785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem30a
|
| Ensembl Gene |
ENSMUSG00000032328 |
| Gene Name |
transmembrane protein 30A |
| Synonyms |
Cdc50a, 2010200I23Rik, D9Wsu20e |
| MMRRC Submission |
041581-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
79676223-79700712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79684567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 95
(H95R)
|
| 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: H131R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328
AA Change: H131R
| 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: H95R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328
AA Change: H95R
| 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
|
| Meta Mutation Damage Score |
0.9437 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
T |
G |
10: 89,561,676 (GRCm39) |
I157L |
probably benign |
Het |
| Amph |
T |
C |
13: 19,333,928 (GRCm39) |
V663A |
possibly damaging |
Het |
| Anapc16 |
A |
G |
10: 59,826,724 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ank3 |
T |
A |
10: 69,644,755 (GRCm39) |
V60D |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,746,545 (GRCm39) |
Y94H |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,063,017 (GRCm39) |
I191T |
probably damaging |
Het |
| Clpb |
T |
C |
7: 101,436,929 (GRCm39) |
L668P |
probably damaging |
Het |
| Cyp2d22 |
G |
A |
15: 82,258,571 (GRCm39) |
H97Y |
probably benign |
Het |
| Dhrs7 |
A |
T |
12: 72,699,899 (GRCm39) |
N244K |
probably damaging |
Het |
| Dusp4 |
C |
T |
8: 35,274,890 (GRCm39) |
T3M |
possibly damaging |
Het |
| Edc4 |
GGATTTTAGCCA |
G |
8: 106,611,700 (GRCm39) |
|
probably null |
Het |
| Etl4 |
G |
A |
2: 20,811,676 (GRCm39) |
S1621N |
possibly damaging |
Het |
| Fam174a |
T |
C |
1: 95,241,701 (GRCm39) |
S54P |
probably benign |
Het |
| Fdxacb1 |
T |
C |
9: 50,681,547 (GRCm39) |
F7S |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,812,468 (GRCm39) |
L268H |
probably damaging |
Het |
| Gpr17 |
A |
T |
18: 32,080,304 (GRCm39) |
I253N |
possibly damaging |
Het |
| H2-T23 |
A |
T |
17: 36,343,058 (GRCm39) |
N106K |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,171,296 (GRCm39) |
R303G |
probably damaging |
Het |
| Irgm1 |
G |
A |
11: 48,756,955 (GRCm39) |
|
silent |
Het |
| Jph1 |
A |
C |
1: 17,067,770 (GRCm39) |
I114S |
probably damaging |
Het |
| Kcna1 |
C |
T |
6: 126,619,238 (GRCm39) |
D361N |
possibly damaging |
Het |
| Kcna4 |
G |
A |
2: 107,126,436 (GRCm39) |
R390Q |
probably damaging |
Het |
| Lum |
C |
A |
10: 97,404,300 (GRCm39) |
P65H |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,711 (GRCm39) |
L134P |
probably benign |
Het |
| Mroh8 |
A |
T |
2: 157,099,960 (GRCm39) |
I248N |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,840,921 (GRCm39) |
T677A |
probably benign |
Het |
| Nup37 |
T |
A |
10: 88,010,791 (GRCm39) |
F257I |
possibly damaging |
Het |
| Or13c3 |
T |
C |
4: 52,855,764 (GRCm39) |
I250V |
probably benign |
Het |
| Or6k6 |
C |
T |
1: 173,944,770 (GRCm39) |
V271I |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
| Pdzd2 |
A |
C |
15: 12,419,567 (GRCm39) |
M501R |
possibly damaging |
Het |
| Pitx1 |
T |
C |
13: 55,976,465 (GRCm39) |
K65E |
probably benign |
Het |
| Pla1a |
C |
T |
16: 38,229,972 (GRCm39) |
A247T |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Prss8 |
A |
G |
7: 127,528,979 (GRCm39) |
S26P |
probably damaging |
Het |
| Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,027,684 (GRCm39) |
C1334S |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,613,146 (GRCm39) |
W385R |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,821,263 (GRCm39) |
M249T |
probably benign |
Het |
| Srsf9 |
T |
A |
5: 115,470,651 (GRCm39) |
I117N |
probably damaging |
Het |
| Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,770,346 (GRCm39) |
V139A |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,648,125 (GRCm39) |
V1012D |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,815,929 (GRCm39) |
Q379K |
probably damaging |
Het |
| Zfp930 |
C |
T |
8: 69,680,898 (GRCm39) |
Q198* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTATTTTGTGGGCATTCAAG -3'
(R):5'- GTTGCTACTTAACCTCAGTACCTG -3'
Sequencing Primer
(F):5'- TTTGTGGGCATTCAAGAAAAAGC -3'
(R):5'- GTTAAAAGGTTTTCCCTTTCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation