Incidental Mutation 'R1160:Tmem132a'
ID |
100375 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem132a
|
Ensembl Gene |
ENSMUSG00000024736 |
Gene Name |
transmembrane protein 132A |
Synonyms |
6720481D13Rik, Hspa5bp1 |
MMRRC Submission |
039233-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1160 (G1)
|
Quality Score |
191 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10835938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 864
(V864A)
|
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: V864A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000025645 Gene: ENSMUSG00000024736 AA Change: V864A
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: 98.6%
- 3x: 97.3%
- 10x: 92.7%
- 20x: 81.6%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
G |
T |
1: 89,770,876 (GRCm39) |
K622N |
probably damaging |
Het |
Ap3b2 |
A |
T |
7: 81,115,917 (GRCm39) |
|
probably null |
Het |
Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,427,935 (GRCm39) |
V702A |
possibly damaging |
Het |
Bach1 |
T |
C |
16: 87,512,322 (GRCm39) |
V15A |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Ccar2 |
C |
T |
14: 70,377,218 (GRCm39) |
V774M |
probably benign |
Het |
Dcaf5 |
T |
C |
12: 80,386,989 (GRCm39) |
D379G |
possibly damaging |
Het |
Dcpp1 |
T |
A |
17: 24,100,405 (GRCm39) |
I45K |
possibly damaging |
Het |
Ddx17 |
T |
A |
15: 79,425,288 (GRCm39) |
S128C |
probably damaging |
Het |
Eml3 |
A |
G |
19: 8,910,614 (GRCm39) |
N192S |
probably benign |
Het |
Epha3 |
T |
G |
16: 63,593,431 (GRCm39) |
D219A |
probably damaging |
Het |
Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
Khdc4 |
C |
A |
3: 88,616,169 (GRCm39) |
P452Q |
probably damaging |
Het |
Klhl5 |
A |
G |
5: 65,298,683 (GRCm39) |
N154S |
probably benign |
Het |
Lrif1 |
A |
G |
3: 106,640,033 (GRCm39) |
N373D |
possibly damaging |
Het |
Map3k20 |
A |
G |
2: 72,271,864 (GRCm39) |
N664S |
probably benign |
Het |
Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pglyrp4 |
T |
A |
3: 90,636,138 (GRCm39) |
|
probably null |
Het |
Pole |
A |
G |
5: 110,443,119 (GRCm39) |
E349G |
possibly damaging |
Het |
Ptprj |
A |
G |
2: 90,274,868 (GRCm39) |
Y1165H |
probably damaging |
Het |
Rasd1 |
T |
A |
11: 59,855,547 (GRCm39) |
I29F |
possibly damaging |
Het |
Scamp3 |
T |
C |
3: 89,088,505 (GRCm39) |
F237S |
probably damaging |
Het |
Sccpdh |
T |
G |
1: 179,511,775 (GRCm39) |
D82E |
probably benign |
Het |
Slc19a3 |
A |
C |
1: 83,000,413 (GRCm39) |
H201Q |
possibly damaging |
Het |
Slc5a4a |
G |
A |
10: 76,013,995 (GRCm39) |
A401T |
possibly damaging |
Het |
Snupn |
T |
G |
9: 56,864,389 (GRCm39) |
C29W |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
Sox17 |
A |
T |
1: 4,562,075 (GRCm39) |
V310E |
probably damaging |
Het |
Srgap1 |
T |
A |
10: 121,691,382 (GRCm39) |
Y284F |
probably benign |
Het |
Srpk1 |
C |
A |
17: 28,818,748 (GRCm39) |
V363F |
probably benign |
Het |
Syt13 |
T |
A |
2: 92,773,387 (GRCm39) |
|
probably null |
Het |
Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
Tal1 |
A |
T |
4: 114,925,813 (GRCm39) |
D294V |
probably damaging |
Het |
Tbl2 |
A |
G |
5: 135,188,246 (GRCm39) |
T347A |
probably benign |
Het |
Tet3 |
A |
G |
6: 83,381,434 (GRCm39) |
S110P |
probably benign |
Het |
Trak1 |
T |
C |
9: 121,221,073 (GRCm39) |
I80T |
probably benign |
Het |
Trappc6b |
G |
A |
12: 59,097,064 (GRCm39) |
T86I |
probably damaging |
Het |
Usf3 |
T |
A |
16: 44,038,910 (GRCm39) |
I1130N |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,231 (GRCm39) |
V824A |
possibly damaging |
Het |
Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
Zmiz1 |
T |
A |
14: 25,654,936 (GRCm39) |
V685E |
probably damaging |
Het |
Zp2 |
A |
T |
7: 119,735,268 (GRCm39) |
D368E |
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 |
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 |
|
Posted On |
2014-01-15 |