Incidental Mutation 'R5882:Tmem38a'
| ID |
454473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem38a
|
| Ensembl Gene |
ENSMUSG00000031791 |
| Gene Name |
transmembrane protein 38A |
| Synonyms |
1110001E17Rik, TRIC-A |
| MMRRC Submission |
043236-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
73325899-73341126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73339731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 233
(H233R)
|
| 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: H233R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034244
Gene: ENSMUSG00000031791
AA Change: H233R
| 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 benign
Transcript: ENSMUST00000212763
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.5%
- 20x: 86.5%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
T |
A |
15: 77,602,447 (GRCm39) |
H348Q |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,350,645 (GRCm39) |
E400V |
probably damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,839 (GRCm39) |
K176N |
probably benign |
Het |
| Dcaf4 |
T |
C |
12: 83,586,203 (GRCm39) |
V377A |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,851,675 (GRCm39) |
L71P |
probably damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,777,498 (GRCm39) |
R117S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,903,453 (GRCm39) |
V382A |
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,730,057 (GRCm39) |
R107* |
probably null |
Het |
| Kif16b |
C |
T |
2: 142,549,178 (GRCm39) |
|
probably null |
Het |
| Lrrc69 |
A |
G |
4: 14,708,690 (GRCm39) |
F218S |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,760,422 (GRCm39) |
Y1158C |
probably damaging |
Het |
| Myom1 |
G |
C |
17: 71,417,717 (GRCm39) |
A1307P |
probably damaging |
Het |
| Nacad |
C |
T |
11: 6,548,568 (GRCm39) |
V1389I |
possibly damaging |
Het |
| Nit2 |
T |
C |
16: 56,979,829 (GRCm39) |
D132G |
probably benign |
Het |
| Nln |
G |
T |
13: 104,196,006 (GRCm39) |
D60E |
probably benign |
Het |
| Oas1f |
G |
A |
5: 120,986,316 (GRCm39) |
E90K |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,893 (GRCm39) |
V82A |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,484 (GRCm39) |
V76E |
probably damaging |
Het |
| Or8b12 |
C |
T |
9: 37,657,928 (GRCm39) |
T166I |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,230 (GRCm39) |
Q727L |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 42,863,327 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
T |
19: 31,563,097 (GRCm39) |
N116K |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,366,581 (GRCm39) |
S593C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,494 (GRCm39) |
N85S |
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,596,965 (GRCm39) |
T93A |
probably benign |
Het |
| St7 |
T |
C |
6: 17,846,248 (GRCm39) |
L121P |
probably damaging |
Het |
| Stoml2 |
G |
C |
4: 43,031,003 (GRCm39) |
R57G |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,837,371 (GRCm39) |
R532C |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,254,142 (GRCm39) |
N660S |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,269,777 (GRCm39) |
V304A |
possibly damaging |
Het |
| Ush1g |
C |
A |
11: 115,209,368 (GRCm39) |
M275I |
probably damaging |
Het |
| Zfp882 |
A |
T |
8: 72,667,303 (GRCm39) |
|
probably null |
Het |
| Zim1 |
A |
T |
7: 6,685,737 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TGGAAGTCATGCCTCTTCAGAG -3'
(R):5'- TCCTTCTACCAAGCACGCAG -3'
Sequencing Primer
(F):5'- GAAGTCATGCCTCTTCAGAGTCCAG -3'
(R):5'- AGTGGATTCCTGGGGCCAAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation