Incidental Mutation 'R9744:Tmem132a'
ID |
732003 |
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 # |
R9744 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 10840678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 418
(P418L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000120524]
|
AlphaFold |
Q922P8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025645
AA Change: P418L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025645 Gene: ENSMUSG00000024736 AA Change: P418L
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 damaging
Transcript: ENSMUST00000120524
AA Change: P418L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113696 Gene: ENSMUSG00000024736 AA Change: P418L
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: 98.5%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
T |
A |
14: 68,742,583 (GRCm39) |
M677L |
probably benign |
Het |
Ankrd24 |
T |
G |
10: 81,482,951 (GRCm39) |
D966E |
possibly damaging |
Het |
Arhgef28 |
A |
G |
13: 98,094,261 (GRCm39) |
L961P |
probably damaging |
Het |
Atxn1 |
G |
A |
13: 45,721,299 (GRCm39) |
Q199* |
probably null |
Het |
Bcl2a1c |
G |
A |
9: 114,159,341 (GRCm39) |
V40I |
probably benign |
Het |
Cep41 |
A |
G |
6: 30,656,603 (GRCm39) |
V283A |
probably benign |
Het |
Cerk |
A |
G |
15: 86,033,491 (GRCm39) |
Y311H |
probably damaging |
Het |
Ciz1 |
A |
T |
2: 32,253,859 (GRCm39) |
Q13L |
unknown |
Het |
Cpeb2 |
T |
C |
5: 43,391,268 (GRCm39) |
S155P |
|
Het |
Dmbx1 |
T |
A |
4: 115,777,262 (GRCm39) |
E200D |
probably damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Erc1 |
T |
C |
6: 119,720,360 (GRCm39) |
Y747C |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,637,124 (GRCm39) |
E1114G |
probably damaging |
Het |
Fndc3a |
C |
A |
14: 72,777,693 (GRCm39) |
E1171* |
probably null |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Gys2 |
A |
C |
6: 142,394,187 (GRCm39) |
D450E |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,623,941 (GRCm39) |
I1120N |
probably damaging |
Het |
Ints3 |
G |
T |
3: 90,318,605 (GRCm39) |
T210K |
probably damaging |
Het |
Itih5 |
T |
C |
2: 10,256,221 (GRCm39) |
Y896H |
probably damaging |
Het |
Kcna7 |
A |
G |
7: 45,056,402 (GRCm39) |
D206G |
probably benign |
Het |
Klhl10 |
T |
A |
11: 100,336,396 (GRCm39) |
C128S |
probably damaging |
Het |
Klhl5 |
T |
C |
5: 65,320,255 (GRCm39) |
V603A |
probably damaging |
Het |
Mapk15 |
T |
A |
15: 75,869,912 (GRCm39) |
I344N |
possibly damaging |
Het |
Mdn1 |
T |
C |
4: 32,715,711 (GRCm39) |
F1993L |
possibly damaging |
Het |
Myo1c |
T |
C |
11: 75,562,797 (GRCm39) |
L959P |
probably damaging |
Het |
Nectin1 |
A |
G |
9: 43,715,240 (GRCm39) |
Q492R |
probably damaging |
Het |
Nlrp14 |
A |
T |
7: 106,796,987 (GRCm39) |
L951F |
probably damaging |
Het |
Nlrp5 |
T |
G |
7: 23,120,902 (GRCm39) |
S705R |
possibly damaging |
Het |
Nlrp9a |
A |
G |
7: 26,267,266 (GRCm39) |
Y787C |
probably benign |
Het |
Npsr1 |
A |
G |
9: 24,201,182 (GRCm39) |
T189A |
probably benign |
Het |
Nup205 |
T |
C |
6: 35,209,510 (GRCm39) |
Y1606H |
probably damaging |
Het |
Or2w4 |
A |
G |
13: 21,795,827 (GRCm39) |
F104S |
possibly damaging |
Het |
Or4k48 |
C |
A |
2: 111,475,664 (GRCm39) |
R226L |
probably benign |
Het |
Or6z5 |
A |
T |
7: 6,477,210 (GRCm39) |
I34L |
probably benign |
Het |
Pitx2 |
A |
T |
3: 129,009,467 (GRCm39) |
T129S |
probably damaging |
Het |
Pla2g2c |
T |
C |
4: 138,470,972 (GRCm39) |
S118P |
probably damaging |
Het |
Polr1a |
A |
G |
6: 71,906,372 (GRCm39) |
N396S |
probably benign |
Het |
Prl |
A |
T |
13: 27,248,338 (GRCm39) |
Q135L |
probably benign |
Het |
Prrc2c |
A |
G |
1: 162,505,733 (GRCm39) |
L2555P |
possibly damaging |
Het |
Psg29 |
A |
T |
7: 16,944,495 (GRCm39) |
D335V |
probably benign |
Het |
Psme4 |
T |
C |
11: 30,765,294 (GRCm39) |
|
probably null |
Het |
Ramp2 |
T |
A |
11: 101,137,913 (GRCm39) |
S52T |
unknown |
Het |
Skint6 |
C |
T |
4: 112,666,360 (GRCm39) |
G1155D |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,215,275 (GRCm39) |
R655C |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,274,184 (GRCm39) |
C1867R |
probably benign |
Het |
Tcf21 |
T |
C |
10: 22,695,726 (GRCm39) |
D26G |
probably benign |
Het |
Tob1 |
C |
T |
11: 94,105,054 (GRCm39) |
R197C |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,794,848 (GRCm39) |
V607A |
probably damaging |
Het |
Vmn2r30 |
A |
G |
7: 7,315,284 (GRCm39) |
S850P |
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 |
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'- GATTGACATCCTGTCCCTGC -3'
(R):5'- AAATGGTGTGGGAGATCCTG -3'
Sequencing Primer
(F):5'- AGAAGCTGTTCCCTTGGAGAC -3'
(R):5'- TGTCTGAGCGGGACATCAG -3'
|
Posted On |
2022-11-14 |