Incidental Mutation 'IGL01401:Tmem132a'
| ID |
79661 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem132a
|
| Ensembl Gene |
ENSMUSG00000024736 |
| Gene Name |
transmembrane protein 132A |
| Synonyms |
6720481D13Rik, Hspa5bp1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 10838888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000025646]
[ENSMUST00000120524]
|
| AlphaFold |
Q922P8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025645
|
| SMART Domains |
Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
| 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 |
|
| 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 |
|---|
| Adgrl3 |
T |
C |
5: 81,836,516 (GRCm39) |
V758A |
possibly damaging |
Het |
| Arf4 |
T |
C |
14: 26,359,609 (GRCm39) |
L12P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,996,441 (GRCm39) |
N1051S |
probably benign |
Het |
| C4bp |
A |
T |
1: 130,575,801 (GRCm39) |
V230E |
possibly damaging |
Het |
| Carm1 |
T |
A |
9: 21,480,878 (GRCm39) |
|
probably null |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Ceacam16 |
T |
C |
7: 19,595,054 (GRCm39) |
Y8C |
probably benign |
Het |
| Ckap2l |
A |
T |
2: 129,111,136 (GRCm39) |
V687E |
probably damaging |
Het |
| Dcaf4 |
A |
G |
12: 83,588,148 (GRCm39) |
D449G |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,278,746 (GRCm39) |
Y1113C |
probably benign |
Het |
| Fry |
A |
G |
5: 150,362,253 (GRCm39) |
I161V |
probably benign |
Het |
| Gm17093 |
A |
C |
14: 44,758,984 (GRCm39) |
M169L |
unknown |
Het |
| Gm20721 |
A |
G |
2: 174,187,295 (GRCm39) |
D999G |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,713,361 (GRCm39) |
H840R |
probably damaging |
Het |
| Hoxc12 |
C |
A |
15: 102,845,755 (GRCm39) |
H156Q |
probably benign |
Het |
| Htr3b |
T |
C |
9: 48,858,934 (GRCm39) |
D68G |
probably damaging |
Het |
| Inpp5b |
T |
C |
4: 124,639,880 (GRCm39) |
V99A |
probably damaging |
Het |
| Klhl42 |
C |
T |
6: 147,009,241 (GRCm39) |
T360M |
probably benign |
Het |
| Lmo7 |
C |
T |
14: 102,031,713 (GRCm39) |
R36* |
probably null |
Het |
| Lmod3 |
T |
G |
6: 97,229,513 (GRCm39) |
N7T |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mthfd2l |
T |
A |
5: 91,148,425 (GRCm39) |
I284K |
possibly damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,448 (GRCm39) |
I267N |
probably damaging |
Het |
| Or13c7d |
T |
C |
4: 43,770,112 (GRCm39) |
R300G |
probably damaging |
Het |
| Or2y1g |
T |
A |
11: 49,171,314 (GRCm39) |
V113E |
possibly damaging |
Het |
| Prkce |
T |
C |
17: 86,476,268 (GRCm39) |
V83A |
probably damaging |
Het |
| Pxdn |
G |
T |
12: 30,051,983 (GRCm39) |
C540F |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,228,394 (GRCm39) |
E480G |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,606,238 (GRCm39) |
E4448V |
possibly damaging |
Het |
| Scn1a |
A |
T |
2: 66,119,455 (GRCm39) |
N1349K |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 109,979,033 (GRCm39) |
I172T |
possibly damaging |
Het |
| Syt16 |
T |
C |
12: 74,269,437 (GRCm39) |
V92A |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,474 (GRCm39) |
Y1672C |
probably damaging |
Het |
| Tmem131 |
A |
G |
1: 36,838,468 (GRCm39) |
Y1486H |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,920 (GRCm39) |
D314E |
probably damaging |
Het |
| Vmn2r79 |
G |
A |
7: 86,686,481 (GRCm39) |
V621I |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,167,509 (GRCm39) |
|
probably benign |
Het |
| Wwc1 |
C |
A |
11: 35,789,445 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tmem132a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0918:Tmem132a
|
UTSW |
19 |
10,835,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation