Incidental Mutation 'R4281:Tmem132a'
ID |
322915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem132a
|
Ensembl Gene |
ENSMUSG00000024736 |
Gene Name |
transmembrane protein 132A |
Synonyms |
6720481D13Rik, Hspa5bp1 |
MMRRC Submission |
041649-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4281 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 10839090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glutamine
at position 451
(E451Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000025646]
[ENSMUST00000120524]
|
AlphaFold |
Q922P8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025645
AA Change: E451Q
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000025645 Gene: ENSMUSG00000024736 AA Change: E451Q
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 |
possibly damaging
Transcript: ENSMUST00000120524
AA Change: E451Q
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000113696 Gene: ENSMUSG00000024736 AA Change: E451Q
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
|
Meta Mutation Damage Score |
0.0827 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
92% (44/48) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
B9d2 |
A |
G |
7: 25,380,851 (GRCm39) |
T14A |
possibly damaging |
Het |
Cavin3 |
A |
C |
7: 105,130,981 (GRCm39) |
|
probably null |
Het |
Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,252,378 (GRCm39) |
H429Q |
probably benign |
Het |
Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
Evc2 |
T |
C |
5: 37,495,938 (GRCm39) |
V16A |
probably benign |
Het |
Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
Gimap8 |
A |
C |
6: 48,635,754 (GRCm39) |
R506S |
probably benign |
Het |
Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
Gtf2a1l |
A |
G |
17: 89,019,065 (GRCm39) |
N383S |
possibly damaging |
Het |
Hepacam2 |
G |
A |
6: 3,475,938 (GRCm39) |
T329I |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
Mark4 |
T |
C |
7: 19,167,371 (GRCm39) |
K456R |
probably benign |
Het |
Nox4 |
A |
G |
7: 86,946,732 (GRCm39) |
I143V |
possibly damaging |
Het |
Or11h7 |
T |
C |
14: 50,891,029 (GRCm39) |
C112R |
probably benign |
Het |
Or12j3 |
A |
G |
7: 139,953,385 (GRCm39) |
I46T |
probably benign |
Het |
Pcdh18 |
A |
G |
3: 49,710,982 (GRCm39) |
L111P |
possibly damaging |
Het |
Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
Pnpla6 |
T |
C |
8: 3,571,513 (GRCm39) |
L148P |
probably damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,623,963 (GRCm39) |
|
probably null |
Het |
Rars1 |
T |
C |
11: 35,712,051 (GRCm39) |
E275G |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,638,946 (GRCm39) |
V287A |
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,865,404 (GRCm39) |
R641Q |
possibly damaging |
Het |
Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
Tmem229b-ps |
A |
G |
10: 53,351,474 (GRCm39) |
|
noncoding transcript |
Het |
Trim33 |
T |
A |
3: 103,236,402 (GRCm39) |
V504D |
probably damaging |
Het |
Usp47 |
A |
T |
7: 111,709,200 (GRCm39) |
E1315D |
probably benign |
Het |
Zbtb24 |
T |
C |
10: 41,340,916 (GRCm39) |
S649P |
probably benign |
Het |
Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
Zfp612 |
A |
G |
8: 110,816,691 (GRCm39) |
I594V |
probably damaging |
Het |
Zfp692 |
T |
C |
11: 58,205,091 (GRCm39) |
F447L |
probably damaging |
Het |
Zranb3 |
A |
C |
1: 127,891,614 (GRCm39) |
S787R |
possibly 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 |
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 |
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'- CCTCGGATTTGTTCCAGAGTGG -3'
(R):5'- ATGTTGCATGCAAATGGCC -3'
Sequencing Primer
(F):5'- GGTGTCAGTCAGCTCAATGC -3'
(R):5'- TACAGTAACGCCCCTGGAGTG -3'
|
Posted On |
2015-06-20 |