Incidental Mutation 'R9774:Tmem132a'
| ID |
733611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132a
|
| Ensembl Gene |
ENSMUSG00000024736 |
| Gene Name |
transmembrane protein 132A |
| Synonyms |
6720481D13Rik, Hspa5bp1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 10842904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 190
(W190*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000120524]
|
| AlphaFold |
Q922P8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025645
AA Change: W190*
|
| SMART Domains |
Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
AA Change: W190*
| 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 null
Transcript: ENSMUST00000120524
AA Change: W190*
|
| SMART Domains |
Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736
AA Change: W190*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
A |
C |
7: 30,399,261 (GRCm39) |
Q18H |
possibly damaging |
Het |
| Adam23 |
C |
T |
1: 63,585,583 (GRCm39) |
T390I |
probably benign |
Het |
| Adh7 |
T |
A |
3: 137,929,847 (GRCm39) |
C174* |
probably null |
Het |
| Brip1 |
A |
G |
11: 86,077,838 (GRCm39) |
S197P |
possibly damaging |
Het |
| Ccdc146 |
G |
T |
5: 21,506,247 (GRCm39) |
D731E |
probably benign |
Het |
| Cfi |
T |
C |
3: 129,668,645 (GRCm39) |
V557A |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,484,665 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,299,093 (GRCm39) |
I424V |
unknown |
Het |
| Cubn |
C |
T |
2: 13,433,530 (GRCm39) |
V1127I |
probably benign |
Het |
| Ehhadh |
T |
C |
16: 21,581,976 (GRCm39) |
T339A |
probably benign |
Het |
| Ezh2 |
T |
A |
6: 47,519,315 (GRCm39) |
I506L |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,991,057 (GRCm39) |
M1V |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,372,032 (GRCm39) |
V567E |
probably null |
Het |
| Hrh1 |
A |
T |
6: 114,457,241 (GRCm39) |
E174V |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,272,040 (GRCm39) |
S585G |
possibly damaging |
Het |
| Kcnq4 |
C |
A |
4: 120,573,076 (GRCm39) |
A242S |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,804,014 (GRCm39) |
N842S |
probably benign |
Het |
| Mbd1 |
A |
G |
18: 74,408,274 (GRCm39) |
Q309R |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,943,613 (GRCm39) |
I383T |
probably benign |
Het |
| Mrto4 |
T |
C |
4: 139,075,287 (GRCm39) |
D172G |
probably benign |
Het |
| Muc2 |
T |
G |
7: 141,285,811 (GRCm39) |
S19A |
probably benign |
Het |
| Ndufb2 |
T |
C |
6: 39,575,301 (GRCm39) |
|
probably null |
Het |
| Npas3 |
A |
T |
12: 53,994,108 (GRCm39) |
T246S |
probably damaging |
Het |
| Or8u8 |
C |
T |
2: 86,012,015 (GRCm39) |
V147M |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,675,920 (GRCm39) |
N942I |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,281,751 (GRCm39) |
V177A |
probably benign |
Het |
| Rab5b |
A |
G |
10: 128,522,658 (GRCm39) |
V41A |
probably benign |
Het |
| Rnf111 |
T |
C |
9: 70,334,303 (GRCm39) |
D980G |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,114,185 (GRCm39) |
T515A |
probably benign |
Het |
| Rsf1 |
GCGGC |
GCGGCGGCGTCGGC |
7: 97,229,138 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
T |
A |
1: 106,923,579 (GRCm39) |
F95I |
probably benign |
Het |
| Sgsm3 |
C |
T |
15: 80,890,673 (GRCm39) |
R76C |
possibly damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,603,134 (GRCm39) |
V494A |
probably benign |
Het |
| Spag9 |
A |
G |
11: 94,005,062 (GRCm39) |
E1182G |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,944,196 (GRCm39) |
S530P |
probably benign |
Het |
| Spatc1l |
A |
G |
10: 76,405,168 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
G |
2: 121,938,965 (GRCm39) |
S330P |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,445,010 (GRCm39) |
M306K |
probably damaging |
Het |
| Tcea2 |
C |
T |
2: 181,328,664 (GRCm39) |
T239I |
probably damaging |
Het |
| Tlcd2 |
A |
G |
11: 75,359,131 (GRCm39) |
D34G |
probably damaging |
Het |
| Top3a |
C |
A |
11: 60,638,998 (GRCm39) |
V551L |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,898,041 (GRCm39) |
E1225K |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,645,660 (GRCm39) |
H350R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tyw3 |
T |
C |
3: 154,302,584 (GRCm39) |
D27G |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,153,875 (GRCm39) |
A1012V |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,369,126 (GRCm39) |
T149I |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,791,873 (GRCm39) |
S380T |
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 |
|
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 |
|
Z1088:Tmem132a
|
UTSW |
19 |
10,836,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTCATCCAGAGGTACCTC -3'
(R):5'- GTCTGTTCAAGAAGAGTGACCTAC -3'
Sequencing Primer
(F):5'- ACCTCCTGGTACTGTGGG -3'
(R):5'- GAAGAGTGACCTACAGAGTAGTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation