Incidental Mutation 'R4517:Tmem38a'
| ID |
332955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem38a
|
| Ensembl Gene |
ENSMUSG00000031791 |
| Gene Name |
transmembrane protein 38A |
| Synonyms |
1110001E17Rik, TRIC-A |
| MMRRC Submission |
041761-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4517 (G1)
|
| Quality Score |
154 |
|
Status
|
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: 99.4%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
95% (39/41) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank |
A |
G |
15: 27,562,835 (GRCm39) |
H181R |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,635 (GRCm39) |
K408E |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,795,525 (GRCm39) |
D123V |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,850,566 (GRCm39) |
I340V |
probably benign |
Het |
| Echs1 |
A |
G |
7: 139,692,409 (GRCm39) |
S113P |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,361,059 (GRCm39) |
I391V |
probably benign |
Het |
| Glb1l |
C |
T |
1: 75,185,347 (GRCm39) |
C121Y |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
| H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
| Ibsp |
C |
A |
5: 104,453,863 (GRCm39) |
S67* |
probably null |
Het |
| Ifit1bl2 |
C |
T |
19: 34,607,164 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,800,569 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
G |
14: 23,387,097 (GRCm39) |
S982P |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,213,272 (GRCm39) |
S707G |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,589,323 (GRCm39) |
I437V |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,855,545 (GRCm39) |
|
probably benign |
Het |
| Mcu |
T |
C |
10: 59,303,456 (GRCm39) |
Y127C |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,031 (GRCm39) |
Y284C |
probably damaging |
Het |
| Nr2f2 |
T |
G |
7: 70,007,870 (GRCm39) |
N204T |
probably benign |
Het |
| Or13a26 |
A |
G |
7: 140,285,004 (GRCm39) |
Y280C |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,877 (GRCm39) |
Y279* |
probably null |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcf11 |
T |
C |
7: 92,295,696 (GRCm39) |
Y1451C |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,047,097 (GRCm39) |
S920P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Tas2r135 |
A |
T |
6: 42,383,013 (GRCm39) |
H184L |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,969,683 (GRCm39) |
V259A |
probably damaging |
Het |
| Whrn |
A |
G |
4: 63,379,517 (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 |
|
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 |
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