Incidental Mutation 'R0918:Tmem132a'
| ID |
81566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132a
|
| Ensembl Gene |
ENSMUSG00000024736 |
| Gene Name |
transmembrane protein 132A |
| Synonyms |
6720481D13Rik, Hspa5bp1 |
| MMRRC Submission |
039068-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0918 (G1)
|
| Quality Score |
90 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10835477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1018
(S1018P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000025646]
[ENSMUST00000120524]
|
| AlphaFold |
Q922P8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025645
AA Change: S1018P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
AA Change: S1018P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:TMEM132D_N
|
44 |
167 |
1.6e-35 |
PFAM |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
Pfam:TMEM132
|
403 |
745 |
4.1e-108 |
PFAM |
|
low complexity region
|
759 |
776 |
N/A |
INTRINSIC |
|
Pfam:TMEM132D_C
|
809 |
897 |
1.5e-31 |
PFAM |
|
low complexity region
|
906 |
923 |
N/A |
INTRINSIC |
|
low complexity region
|
932 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
960 |
976 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025646
|
| SMART Domains |
Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
37 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
38 |
508 |
3.4e-10 |
PFAM |
|
Pfam:PTR2
|
101 |
519 |
3.2e-79 |
PFAM |
|
transmembrane domain
|
538 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120524
|
| SMART Domains |
Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138263
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.2%
- 20x: 90.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
G |
3: 59,946,953 (GRCm39) |
I217R |
probably damaging |
Het |
| Acp1 |
G |
T |
12: 30,955,126 (GRCm39) |
S20* |
probably null |
Het |
| Adcy3 |
A |
G |
12: 4,248,360 (GRCm39) |
D474G |
probably benign |
Het |
| Apob |
T |
C |
12: 8,033,941 (GRCm39) |
I217T |
probably benign |
Het |
| Cdh12 |
G |
A |
15: 21,492,685 (GRCm39) |
V235I |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,062 (GRCm39) |
T197S |
probably damaging |
Het |
| Cerkl |
A |
G |
2: 79,163,973 (GRCm39) |
I449T |
probably benign |
Het |
| Cpz |
A |
G |
5: 35,674,998 (GRCm39) |
Y84H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,842,619 (GRCm39) |
|
probably null |
Het |
| Fbxo11 |
A |
T |
17: 88,305,031 (GRCm39) |
N613K |
probably damaging |
Het |
| Fes |
G |
T |
7: 80,030,953 (GRCm39) |
T536K |
probably damaging |
Het |
| Gm13941 |
G |
C |
2: 110,930,945 (GRCm39) |
T76R |
unknown |
Het |
| Lrp1 |
T |
C |
10: 127,429,834 (GRCm39) |
E412G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,412,287 (GRCm39) |
I285V |
probably damaging |
Het |
| Map3k13 |
G |
A |
16: 21,744,990 (GRCm39) |
D850N |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,103,408 (GRCm39) |
V34M |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,171,928 (GRCm39) |
W43R |
probably damaging |
Het |
| Ncan |
T |
G |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,168,239 (GRCm39) |
T984M |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,062,403 (GRCm39) |
T278A |
probably benign |
Het |
| Or5a3 |
A |
G |
19: 12,400,599 (GRCm39) |
K309E |
probably benign |
Het |
| Or5ak4 |
A |
G |
2: 85,162,276 (GRCm39) |
|
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,418 (GRCm39) |
I209T |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,653,067 (GRCm39) |
F255L |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,103,124 (GRCm39) |
D1697G |
possibly damaging |
Het |
| Pla2g12b |
A |
G |
10: 59,257,306 (GRCm39) |
D163G |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,756,267 (GRCm39) |
T359M |
possibly damaging |
Het |
| Sass6 |
G |
A |
3: 116,397,172 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,153,651 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
A |
G |
15: 96,507,743 (GRCm39) |
L103P |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,391,559 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,547,511 (GRCm39) |
P265S |
probably benign |
Het |
| Snrpa1 |
A |
G |
7: 65,720,363 (GRCm39) |
T189A |
probably benign |
Het |
| Snx11 |
G |
A |
11: 96,660,104 (GRCm39) |
P195L |
possibly damaging |
Het |
| Spen |
T |
G |
4: 141,212,875 (GRCm39) |
I584L |
unknown |
Het |
| Sult2a5 |
T |
A |
7: 13,359,334 (GRCm39) |
H103Q |
probably benign |
Het |
| Syce1 |
T |
C |
7: 140,360,436 (GRCm39) |
K50E |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
|
| Other mutations in Tmem132a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01401:Tmem132a
|
APN |
19 |
10,838,888 (GRCm39) |
splice site |
probably benign |
|
|
IGL02508:Tmem132a
|
APN |
19 |
10,835,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Tmem132a
|
UTSW |
19 |
10,836,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1160:Tmem132a
|
UTSW |
19 |
10,835,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1205:Tmem132a
|
UTSW |
19 |
10,836,448 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1619:Tmem132a
|
UTSW |
19 |
10,839,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Tmem132a
|
UTSW |
19 |
10,835,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1815:Tmem132a
|
UTSW |
19 |
10,838,931 (GRCm39) |
nonsense |
probably null |
|
|
R1869:Tmem132a
|
UTSW |
19 |
10,836,052 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1888:Tmem132a
|
UTSW |
19 |
10,840,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Tmem132a
|
UTSW |
19 |
10,840,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Tmem132a
|
UTSW |
19 |
10,841,430 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2441:Tmem132a
|
UTSW |
19 |
10,837,501 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2570:Tmem132a
|
UTSW |
19 |
10,837,106 (GRCm39) |
missense |
probably null |
1.00 |
|
R3157:Tmem132a
|
UTSW |
19 |
10,836,901 (GRCm39) |
nonsense |
probably null |
|
|
R3159:Tmem132a
|
UTSW |
19 |
10,836,901 (GRCm39) |
nonsense |
probably null |
|
|
R4152:Tmem132a
|
UTSW |
19 |
10,836,427 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4281:Tmem132a
|
UTSW |
19 |
10,839,090 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4547:Tmem132a
|
UTSW |
19 |
10,837,564 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4793:Tmem132a
|
UTSW |
19 |
10,842,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Tmem132a
|
UTSW |
19 |
10,844,298 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4998:Tmem132a
|
UTSW |
19 |
10,836,305 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5226:Tmem132a
|
UTSW |
19 |
10,844,508 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5323:Tmem132a
|
UTSW |
19 |
10,841,371 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6659:Tmem132a
|
UTSW |
19 |
10,837,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6814:Tmem132a
|
UTSW |
19 |
10,840,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6872:Tmem132a
|
UTSW |
19 |
10,840,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Tmem132a
|
UTSW |
19 |
10,844,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7383:Tmem132a
|
UTSW |
19 |
10,844,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7505:Tmem132a
|
UTSW |
19 |
10,836,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Tmem132a
|
UTSW |
19 |
10,837,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7595:Tmem132a
|
UTSW |
19 |
10,835,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8327:Tmem132a
|
UTSW |
19 |
10,836,311 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8442:Tmem132a
|
UTSW |
19 |
10,835,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8550:Tmem132a
|
UTSW |
19 |
10,837,745 (GRCm39) |
missense |
probably benign |
|
|
R8905:Tmem132a
|
UTSW |
19 |
10,842,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9025:Tmem132a
|
UTSW |
19 |
10,837,525 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9032:Tmem132a
|
UTSW |
19 |
10,843,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9085:Tmem132a
|
UTSW |
19 |
10,843,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9095:Tmem132a
|
UTSW |
19 |
10,844,412 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9563:Tmem132a
|
UTSW |
19 |
10,838,960 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9744:Tmem132a
|
UTSW |
19 |
10,840,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9774:Tmem132a
|
UTSW |
19 |
10,842,904 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Tmem132a
|
UTSW |
19 |
10,836,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCAGTACCAGCTATGCCCATTC -3'
(R):5'- TGTGACATTTGCACCAGCACCC -3'
Sequencing Primer
(F):5'- CTTGACCATAGTCCATGACAAGGG -3'
(R):5'- CAGCACCCCCAACCCAG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation