Incidental Mutation 'R5323:Tmem132a'
| ID |
404999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132a
|
| Ensembl Gene |
ENSMUSG00000024736 |
| Gene Name |
transmembrane protein 132A |
| Synonyms |
6720481D13Rik, Hspa5bp1 |
| MMRRC Submission |
042906-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10841371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 318
(H318Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000120524]
|
| AlphaFold |
Q922P8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025645
AA Change: H318Y
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
AA Change: H318Y
| 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 |
possibly damaging
Transcript: ENSMUST00000120524
AA Change: H318Y
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736
AA Change: H318Y
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
A |
7: 82,206,269 (GRCm39) |
C784S |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,745,989 (GRCm39) |
|
probably benign |
Het |
| Apon |
A |
G |
10: 128,090,907 (GRCm39) |
E195G |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,275,944 (GRCm39) |
I334V |
probably benign |
Het |
| Camsap1 |
G |
T |
2: 25,855,823 (GRCm39) |
A145E |
probably damaging |
Het |
| Capns1 |
G |
T |
7: 29,887,147 (GRCm39) |
F243L |
possibly damaging |
Het |
| Catsper2 |
A |
T |
2: 121,237,216 (GRCm39) |
I228N |
probably damaging |
Het |
| Ceacam14 |
A |
T |
7: 17,549,402 (GRCm39) |
*264C |
probably null |
Het |
| Cel |
A |
C |
2: 28,450,530 (GRCm39) |
V165G |
probably damaging |
Het |
| Cldnd1 |
T |
A |
16: 58,550,016 (GRCm39) |
D66E |
possibly damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,311,275 (GRCm39) |
C589* |
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,620,234 (GRCm39) |
H1554L |
probably damaging |
Het |
| Fbxw25 |
T |
A |
9: 109,492,573 (GRCm39) |
M55L |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,636,591 (GRCm39) |
H2187R |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,818,489 (GRCm39) |
T4741A |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,653,934 (GRCm39) |
I272N |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,886,049 (GRCm39) |
S212P |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,421,495 (GRCm39) |
|
probably null |
Het |
| Hpgds |
T |
C |
6: 65,109,169 (GRCm39) |
T81A |
probably benign |
Het |
| Insr |
G |
A |
8: 3,252,902 (GRCm39) |
T419I |
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,140,059 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,799,289 (GRCm39) |
I951V |
possibly damaging |
Het |
| Lrrc4c |
T |
A |
2: 97,460,498 (GRCm39) |
C375S |
probably damaging |
Het |
| Muc17 |
G |
T |
5: 137,175,537 (GRCm39) |
C44* |
probably null |
Het |
| Mycbpap |
A |
T |
11: 94,394,330 (GRCm39) |
D313E |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,813,931 (GRCm39) |
|
probably null |
Het |
| Ntsr2 |
C |
T |
12: 16,709,934 (GRCm39) |
S405F |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,870,682 (GRCm39) |
P21S |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,887,703 (GRCm39) |
E7705D |
probably benign |
Het |
| Ogn |
A |
G |
13: 49,762,817 (GRCm39) |
D53G |
probably benign |
Het |
| Or10d5j |
A |
T |
9: 39,868,125 (GRCm39) |
Y35* |
probably null |
Het |
| Or14j10 |
A |
T |
17: 37,935,046 (GRCm39) |
I160K |
probably benign |
Het |
| Or5k8 |
G |
A |
16: 58,645,066 (GRCm39) |
T2I |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,413,883 (GRCm39) |
F33L |
possibly damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,980 (GRCm39) |
I199F |
possibly damaging |
Het |
| Pde6a |
G |
A |
18: 61,365,983 (GRCm39) |
R236H |
possibly damaging |
Het |
| Pigk |
T |
A |
3: 152,443,837 (GRCm39) |
M85K |
probably damaging |
Het |
| Pirb |
A |
C |
7: 3,719,598 (GRCm39) |
I516S |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Pum2 |
T |
A |
12: 8,794,706 (GRCm39) |
I737N |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,818,215 (GRCm39) |
C159S |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,452,573 (GRCm39) |
N125S |
probably benign |
Het |
| Sgip1 |
C |
A |
4: 102,823,477 (GRCm39) |
N699K |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,046,041 (GRCm39) |
|
probably null |
Het |
| Smcp |
C |
T |
3: 92,491,454 (GRCm39) |
G131D |
unknown |
Het |
| St8sia6 |
A |
G |
2: 13,798,188 (GRCm39) |
L23P |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,699,276 (GRCm39) |
T335S |
probably benign |
Het |
| Stox1 |
G |
A |
10: 62,499,812 (GRCm39) |
A916V |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,785,753 (GRCm39) |
T297S |
probably benign |
Het |
| Tert |
G |
T |
13: 73,796,490 (GRCm39) |
A1074S |
probably benign |
Het |
| Tex9 |
A |
T |
9: 72,385,187 (GRCm39) |
D135E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,738,249 (GRCm39) |
S4097P |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,553,874 (GRCm39) |
|
probably null |
Het |
| Usp36 |
A |
T |
11: 118,156,020 (GRCm39) |
S586T |
probably benign |
Het |
| Vsig8 |
A |
G |
1: 172,388,244 (GRCm39) |
S71G |
probably benign |
Het |
| Zfp318 |
G |
A |
17: 46,697,662 (GRCm39) |
D173N |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,939,076 (GRCm39) |
S936T |
probably damaging |
Het |
| Zic2 |
A |
G |
14: 122,713,728 (GRCm39) |
Y214C |
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 |
|
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'- ATGAGCTGAGTGTTCGCCAG -3'
(R):5'- GGTGATATCTCTGGTTCCTCATCTG -3'
Sequencing Primer
(F):5'- AGCTTGAATCCTGGCTACAG -3'
(R):5'- ATCTGTCTTCCTAAAGCAATCGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation