Incidental Mutation 'R1205:Tmem132a'
| ID |
100457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132a
|
| Ensembl Gene |
ENSMUSG00000024736 |
| Gene Name |
transmembrane protein 132A |
| Synonyms |
6720481D13Rik, Hspa5bp1 |
| MMRRC Submission |
039275-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1205 (G1)
|
| Quality Score |
135 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 10836448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 694
(R694L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000025646]
[ENSMUST00000120524]
|
| AlphaFold |
Q922P8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025645
AA Change: R694L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
AA Change: R694L
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.9%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,310,083 (GRCm39) |
N774I |
probably damaging |
Het |
| Bpifc |
T |
A |
10: 85,817,168 (GRCm39) |
D230V |
probably damaging |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,158,406 (GRCm39) |
Q630* |
probably null |
Het |
| Dzip3 |
C |
T |
16: 48,772,044 (GRCm39) |
G542R |
probably damaging |
Het |
| Epha3 |
ATGAACTGCT |
AT |
16: 63,418,611 (GRCm39) |
|
probably null |
Het |
| Fnip1 |
G |
T |
11: 54,393,132 (GRCm39) |
V523L |
possibly damaging |
Het |
| Hc |
T |
A |
2: 34,893,536 (GRCm39) |
D1225V |
possibly damaging |
Het |
| Hnrnpu |
C |
T |
1: 178,159,734 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,443,136 (GRCm39) |
V125I |
probably benign |
Het |
| Kcnip2 |
T |
A |
19: 45,783,422 (GRCm39) |
Q93L |
probably null |
Het |
| Kif27 |
A |
T |
13: 58,492,019 (GRCm39) |
H373Q |
probably benign |
Het |
| Kl |
T |
C |
5: 150,904,153 (GRCm39) |
S302P |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,854,787 (GRCm39) |
V2386I |
probably benign |
Het |
| Map4k4 |
G |
A |
1: 40,043,004 (GRCm39) |
A128T |
probably damaging |
Het |
| Marchf6 |
A |
C |
15: 31,469,819 (GRCm39) |
M717R |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,354,908 (GRCm39) |
Y955H |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,127,395 (GRCm39) |
S636P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,112,996 (GRCm39) |
D4266V |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,091,646 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
G |
A |
2: 36,624,767 (GRCm39) |
V145I |
probably benign |
Het |
| Or4c107 |
A |
T |
2: 88,788,932 (GRCm39) |
I41L |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,899 (GRCm39) |
I38V |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,123,501 (GRCm39) |
S890P |
probably benign |
Het |
| Pcnx1 |
G |
T |
12: 82,003,017 (GRCm39) |
D1052Y |
probably damaging |
Het |
| Pibf1 |
G |
A |
14: 99,338,639 (GRCm39) |
E52K |
probably damaging |
Het |
| Siglec1 |
T |
G |
2: 130,922,384 (GRCm39) |
S564R |
possibly damaging |
Het |
| Sin3a |
T |
A |
9: 57,026,459 (GRCm39) |
V1125E |
probably damaging |
Het |
| Slco4c1 |
G |
T |
1: 96,795,613 (GRCm39) |
D148E |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,605,171 (GRCm39) |
L127Q |
probably damaging |
Het |
| Syne4 |
C |
A |
7: 30,014,761 (GRCm39) |
T68N |
probably damaging |
Het |
| Tas2r134 |
A |
G |
2: 51,517,998 (GRCm39) |
Y159C |
probably benign |
Het |
| Tasor |
A |
T |
14: 27,183,275 (GRCm39) |
D578V |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,668,079 (GRCm39) |
L867S |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,433,635 (GRCm39) |
P2192L |
probably benign |
Het |
| Ttc34 |
T |
G |
4: 154,946,671 (GRCm39) |
V857G |
probably benign |
Het |
| Ugt1a7c |
A |
T |
1: 88,023,678 (GRCm39) |
H279L |
probably benign |
Het |
| Vmn1r32 |
G |
A |
6: 66,530,539 (GRCm39) |
T79I |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,617,905 (GRCm39) |
V2960D |
probably damaging |
Het |
| Wee2 |
G |
T |
6: 40,420,875 (GRCm39) |
|
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- CCACACCATTGACCAGGAAGATGAG -3'
(R):5'- TGGCAGACAGGTGATTGACACG -3'
Sequencing Primer
(F):5'- cttcctcatcttcctcctcttc -3'
(R):5'- GTGTTTTGTCCATTCGCCTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation