Incidental Mutation 'R1161:Tmem38a'
| ID |
100411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem38a
|
| Ensembl Gene |
ENSMUSG00000031791 |
| Gene Name |
transmembrane protein 38A |
| Synonyms |
1110001E17Rik, TRIC-A |
| MMRRC Submission |
039234-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1161 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
73325899-73341126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73333814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 98
(F98I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034244]
[ENSMUST00000211914]
[ENSMUST00000212763]
|
| AlphaFold |
Q3TMP8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034244
AA Change: F98I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034244
Gene: ENSMUSG00000031791
AA Change: F98I
| 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: ENSMUST00000211914
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212763
AA Change: F98I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.7%
- 20x: 89.6%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,030,662 (GRCm39) |
D349G |
probably benign |
Het |
| Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
| Ckap5 |
T |
G |
2: 91,429,720 (GRCm39) |
L1464R |
probably null |
Het |
| Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,181,143 (GRCm39) |
T179S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
| Fhip1a |
A |
G |
3: 85,579,775 (GRCm39) |
I810T |
probably damaging |
Het |
| Fzd3 |
G |
A |
14: 65,449,537 (GRCm39) |
R514C |
probably damaging |
Het |
| H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
| Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
| Ipcef1 |
T |
A |
10: 6,930,288 (GRCm39) |
|
probably null |
Het |
| Mmel1 |
C |
T |
4: 154,979,671 (GRCm39) |
R764C |
probably damaging |
Het |
| Or7e166 |
A |
G |
9: 19,624,476 (GRCm39) |
M118V |
probably damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
| Prx |
T |
C |
7: 27,219,102 (GRCm39) |
F1340S |
probably damaging |
Het |
| Rgs7 |
T |
C |
1: 174,907,021 (GRCm39) |
T90A |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
CAAGAAGAAGAAGAA |
CAAGAAGAAGAA |
5: 135,883,246 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,165,780 (GRCm39) |
|
probably null |
Het |
| Usp29 |
A |
G |
7: 6,964,529 (GRCm39) |
E124G |
probably 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 |
|
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 |
|
R4522: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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation