Incidental Mutation 'R4547:Tmem132a'
| ID |
333845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132a
|
| Ensembl Gene |
ENSMUSG00000024736 |
| Gene Name |
transmembrane protein 132A |
| Synonyms |
6720481D13Rik, Hspa5bp1 |
| MMRRC Submission |
041781-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4547 (G1)
|
| Quality Score |
183 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10837564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 582
(V582A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000025646]
[ENSMUST00000120524]
|
| AlphaFold |
Q922P8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025645
AA Change: V582A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
AA Change: V582A
| 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: V582A
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736
AA Change: V582A
| 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 |
0.1190 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
96% (55/57) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
T |
14: 54,883,124 (GRCm39) |
A909E |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,913,357 (GRCm39) |
E23G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,817,032 (GRCm39) |
R148G |
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
C |
1: 139,405,925 (GRCm39) |
V1604A |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 107,390,535 (GRCm39) |
T625K |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cfhr3 |
T |
G |
1: 139,512,651 (GRCm39) |
|
noncoding transcript |
Het |
| Csmd1 |
T |
C |
8: 16,441,811 (GRCm39) |
D351G |
possibly damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,169,388 (GRCm39) |
D404E |
probably benign |
Het |
| Dpm1 |
A |
G |
2: 168,065,073 (GRCm39) |
L88P |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 39,005,432 (GRCm39) |
F1944L |
probably damaging |
Het |
| Frmd4a |
C |
A |
2: 4,477,956 (GRCm39) |
L46I |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,548,651 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,537,271 (GRCm39) |
V867E |
probably benign |
Het |
| Lnpk |
C |
G |
2: 74,352,630 (GRCm39) |
E351Q |
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,661,878 (GRCm39) |
D364G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,227,467 (GRCm39) |
V567I |
probably benign |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Naaa |
C |
T |
5: 92,411,445 (GRCm39) |
|
probably null |
Het |
| Ncdn |
A |
G |
4: 126,640,467 (GRCm39) |
F542S |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,036,291 (GRCm39) |
N715D |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,382,968 (GRCm39) |
|
probably benign |
Het |
| Or10ag57 |
G |
A |
2: 87,218,504 (GRCm39) |
V152I |
probably benign |
Het |
| Or2t6 |
A |
T |
14: 14,175,854 (GRCm38) |
I76N |
probably damaging |
Het |
| Psg25 |
A |
G |
7: 18,258,629 (GRCm39) |
L349P |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,370,496 (GRCm39) |
|
probably null |
Het |
| Scara5 |
A |
C |
14: 65,908,023 (GRCm39) |
K4N |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,500,119 (GRCm39) |
L211S |
probably benign |
Het |
| Slc44a4 |
T |
A |
17: 35,146,731 (GRCm39) |
F285I |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,361,625 (GRCm39) |
V398A |
possibly damaging |
Het |
| Smc2 |
T |
C |
4: 52,467,866 (GRCm39) |
S737P |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,785,170 (GRCm39) |
I229V |
possibly damaging |
Het |
| Tac1 |
A |
G |
6: 7,557,216 (GRCm39) |
D74G |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,490,771 (GRCm39) |
V607A |
probably benign |
Het |
| Traf4 |
A |
G |
11: 78,051,863 (GRCm39) |
I207T |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,819,068 (GRCm39) |
R449G |
possibly damaging |
Het |
| Ubn1 |
G |
A |
16: 4,889,956 (GRCm39) |
R407H |
probably damaging |
Het |
| Vmn1r19 |
C |
T |
6: 57,381,774 (GRCm39) |
T109I |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vsig8 |
A |
T |
1: 172,388,163 (GRCm39) |
M44L |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
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 |
|
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'- TCTCCCTGGTCACAGTAAGC -3'
(R):5'- GGGCATTAGGCTTCCATCTAGAAC -3'
Sequencing Primer
(F):5'- TCACAGTAAGCCCCGTCTG -3'
(R):5'- AGCCTGAGACTGCTGCTGAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation