Incidental Mutation 'R6659:Tmem132a'
| ID |
526787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132a
|
| Ensembl Gene |
ENSMUSG00000024736 |
| Gene Name |
transmembrane protein 132A |
| Synonyms |
6720481D13Rik, Hspa5bp1 |
| MMRRC Submission |
044779-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6659 (G1)
|
| Quality Score |
161.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 10837685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 542
(G542C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000025646]
[ENSMUST00000120524]
|
| AlphaFold |
Q922P8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025645
AA Change: G542C
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
AA Change: G542C
| 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 damaging
Transcript: ENSMUST00000120524
AA Change: G542C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736
AA Change: G542C
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,950,133 (GRCm39) |
D212G |
probably damaging |
Het |
| Add1 |
C |
T |
5: 34,770,639 (GRCm39) |
A250V |
possibly damaging |
Het |
| Atxn2 |
A |
G |
5: 121,916,027 (GRCm39) |
N411S |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,500,395 (GRCm39) |
T788A |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,817,537 (GRCm39) |
T721A |
probably damaging |
Het |
| Eif2b1 |
G |
A |
5: 124,717,171 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,905,243 (GRCm39) |
K1241E |
probably damaging |
Het |
| Engase |
T |
A |
11: 118,372,142 (GRCm39) |
Y145N |
probably benign |
Het |
| Fbrs |
C |
A |
7: 127,087,091 (GRCm39) |
A674D |
probably damaging |
Het |
| Gm4884 |
G |
A |
7: 40,694,046 (GRCm39) |
G672R |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Iars2 |
T |
A |
1: 185,020,273 (GRCm39) |
I954F |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,785,120 (GRCm39) |
I310F |
probably damaging |
Het |
| Kcnmb3 |
A |
G |
3: 32,526,594 (GRCm39) |
V199A |
possibly damaging |
Het |
| Kctd12 |
G |
T |
14: 103,219,622 (GRCm39) |
D85E |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,125,630 (GRCm39) |
R2929H |
probably damaging |
Het |
| Lgmn |
T |
A |
12: 102,368,951 (GRCm39) |
Y176F |
probably benign |
Het |
| Lipo3 |
A |
G |
19: 33,533,828 (GRCm39) |
F335L |
possibly damaging |
Het |
| Map2k3 |
T |
C |
11: 60,833,150 (GRCm39) |
S46P |
probably benign |
Het |
| Megf8 |
C |
A |
7: 25,058,159 (GRCm39) |
H2144Q |
probably benign |
Het |
| Neb |
A |
T |
2: 52,124,365 (GRCm39) |
W3694R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,861,684 (GRCm38) |
E580G |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,929,835 (GRCm39) |
P5930S |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,986,477 (GRCm39) |
F621L |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,509,348 (GRCm39) |
I732N |
probably damaging |
Het |
| Plpbp |
T |
A |
8: 27,542,307 (GRCm39) |
I214N |
possibly damaging |
Het |
| Ppp1r37 |
A |
G |
7: 19,266,048 (GRCm39) |
S573P |
probably benign |
Het |
| Prg4 |
C |
A |
1: 150,336,432 (GRCm39) |
C97F |
probably damaging |
Het |
| Prmt2 |
T |
C |
10: 76,053,208 (GRCm39) |
D269G |
possibly damaging |
Het |
| Ptbp3 |
T |
A |
4: 59,517,640 (GRCm39) |
L80F |
probably damaging |
Het |
| Reep1 |
T |
A |
6: 71,750,179 (GRCm39) |
F64I |
probably damaging |
Het |
| Srcap |
C |
A |
7: 127,141,563 (GRCm39) |
P1720Q |
probably damaging |
Het |
| Ssr1 |
A |
T |
13: 38,171,666 (GRCm39) |
F124I |
probably damaging |
Het |
| Tbx18 |
A |
G |
9: 87,589,864 (GRCm39) |
L358P |
probably damaging |
Het |
| Tfpt |
T |
C |
7: 3,623,835 (GRCm39) |
K71E |
probably benign |
Het |
| Tmem135 |
C |
A |
7: 88,956,371 (GRCm39) |
L81F |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,956,372 (GRCm39) |
L81* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Washc5 |
A |
G |
15: 59,212,739 (GRCm39) |
|
probably null |
Het |
| Zfp24 |
T |
C |
18: 24,150,391 (GRCm39) |
E173G |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,410,155 (GRCm39) |
I1814T |
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 |
|
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 |
|
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'- AAGTCTTGCTCTTTGGCGTC -3'
(R):5'- GGCATTAGGCTTCCATCTAGAACC -3'
Sequencing Primer
(F):5'- TGGCGGCTCACCTCGATAG -3'
(R):5'- CCTCTAGATAGGTGGCTGGGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation