Incidental Mutation 'R4522:Tmem38a'
| ID |
334268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem38a
|
| Ensembl Gene |
ENSMUSG00000031791 |
| Gene Name |
transmembrane protein 38A |
| Synonyms |
1110001E17Rik, TRIC-A |
| MMRRC Submission |
041765-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4522 (G1)
|
| Quality Score |
186 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
73325899-73341126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 73326005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 20
(P20S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034244]
[ENSMUST00000058733]
[ENSMUST00000167290]
[ENSMUST00000211914]
[ENSMUST00000212763]
|
| AlphaFold |
Q3TMP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034244
AA Change: P20S
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000034244
Gene: ENSMUSG00000031791
AA Change: P20S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:TRIC
|
40 |
231 |
5.5e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058733
|
| SMART Domains |
Protein: ENSMUSP00000059943
Gene: ENSMUSG00000044600
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167290
|
| SMART Domains |
Protein: ENSMUSP00000127441
Gene: ENSMUSG00000044600
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
23 |
N/A |
INTRINSIC |
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211914
AA Change: P20S
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212763
AA Change: P20S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1118 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [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 |
|---|
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Babam2 |
G |
A |
5: 32,164,586 (GRCm39) |
V287M |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,080,627 (GRCm39) |
I146M |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,544,442 (GRCm39) |
R1248H |
probably damaging |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cfap47 |
A |
T |
X: 78,553,601 (GRCm39) |
N291K |
possibly damaging |
Het |
| Chaf1b |
G |
A |
16: 93,698,183 (GRCm39) |
A485T |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,850,461 (GRCm39) |
R1594G |
probably damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Gm3739 |
T |
A |
14: 18,505,267 (GRCm39) |
K86* |
probably null |
Het |
| Mark2 |
A |
T |
19: 7,263,313 (GRCm39) |
D151E |
probably damaging |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Nwd1 |
A |
T |
8: 73,397,579 (GRCm39) |
D606V |
probably damaging |
Het |
| Or8w1 |
T |
A |
2: 87,465,495 (GRCm39) |
I199L |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcbp1 |
T |
C |
6: 86,502,032 (GRCm39) |
N289S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,512,041 (GRCm39) |
L55P |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,420,286 (GRCm39) |
I450N |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,404,974 (GRCm39) |
E2922G |
probably damaging |
Het |
| Spem1 |
C |
A |
11: 69,712,631 (GRCm39) |
|
probably null |
Het |
| Stxbp3-ps |
A |
T |
19: 9,536,474 (GRCm39) |
|
noncoding transcript |
Het |
| Tmod2 |
T |
C |
9: 75,499,866 (GRCm39) |
T129A |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,428,038 (GRCm39) |
T1845A |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,596,822 (GRCm39) |
T3854M |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
| Xdh |
C |
A |
17: 74,205,339 (GRCm39) |
G1042V |
probably damaging |
Het |
| Zfp105 |
T |
A |
9: 122,759,121 (GRCm39) |
V264E |
possibly damaging |
Het |
|
| Other mutations in Tmem38a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02572:Tmem38a
|
APN |
8 |
73,333,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02715:Tmem38a
|
APN |
8 |
73,333,512 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02967:Tmem38a
|
APN |
8 |
73,339,926 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0631:Tmem38a
|
UTSW |
8 |
73,333,862 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1073:Tmem38a
|
UTSW |
8 |
73,333,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1161:Tmem38a
|
UTSW |
8 |
73,333,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1310:Tmem38a
|
UTSW |
8 |
73,333,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1489:Tmem38a
|
UTSW |
8 |
73,333,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2040:Tmem38a
|
UTSW |
8 |
73,335,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4508:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4515:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4517:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4521:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4529:Tmem38a
|
UTSW |
8 |
73,326,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4867:Tmem38a
|
UTSW |
8 |
73,335,077 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5200:Tmem38a
|
UTSW |
8 |
73,333,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5807:Tmem38a
|
UTSW |
8 |
73,333,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5882:Tmem38a
|
UTSW |
8 |
73,339,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Tmem38a
|
UTSW |
8 |
73,325,964 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8945:Tmem38a
|
UTSW |
8 |
73,338,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGTTCTGACGTCCCTAC -3'
(R):5'- AACAAGAGCGCTCCTTTTCTTC -3'
Sequencing Primer
(F):5'- TACGGCCCCGCATTTTGG -3'
(R):5'- GAGCACTCCACGATCTCAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation