Incidental Mutation 'R6814:Tmem132a'
| ID |
534032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132a
|
| Ensembl Gene |
ENSMUSG00000024736 |
| Gene Name |
transmembrane protein 132A |
| Synonyms |
6720481D13Rik, Hspa5bp1 |
| MMRRC Submission |
044926-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6814 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10840669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 421
(L421P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000120524]
|
| AlphaFold |
Q922P8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025645
AA Change: L421P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
AA Change: L421P
| 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: L421P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736
AA Change: L421P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9357 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
100% (48/48) |
| 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 |
|---|
| Aadacl4 |
G |
A |
4: 144,349,750 (GRCm39) |
V336I |
probably benign |
Het |
| Aadacl4fm4 |
A |
T |
4: 144,397,216 (GRCm39) |
L172* |
probably null |
Het |
| Abca7 |
G |
A |
10: 79,838,833 (GRCm39) |
V669I |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,083,860 (GRCm39) |
T637A |
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,866,812 (GRCm39) |
V749E |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,470,767 (GRCm39) |
L1666S |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,858,877 (GRCm39) |
N284D |
possibly damaging |
Het |
| Ccdc196 |
T |
A |
12: 78,244,141 (GRCm39) |
D31E |
probably damaging |
Het |
| Ccdc24 |
T |
C |
4: 117,727,123 (GRCm39) |
T196A |
probably benign |
Het |
| Cdc20b |
G |
A |
13: 113,220,509 (GRCm39) |
G463S |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,486,212 (GRCm39) |
R570* |
probably null |
Het |
| Cit |
G |
A |
5: 116,023,022 (GRCm39) |
C283Y |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,614,053 (GRCm39) |
Q65L |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,797,624 (GRCm39) |
I1363V |
possibly damaging |
Het |
| D2hgdh |
C |
A |
1: 93,763,025 (GRCm39) |
T270N |
possibly damaging |
Het |
| Dnah8 |
G |
T |
17: 30,981,653 (GRCm39) |
L3058F |
probably damaging |
Het |
| Dnajb8 |
A |
G |
6: 88,200,022 (GRCm39) |
N186S |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,862,325 (GRCm39) |
|
probably null |
Het |
| Ear6 |
A |
G |
14: 52,091,885 (GRCm39) |
Y144C |
probably damaging |
Het |
| Fam53a |
T |
C |
5: 33,767,829 (GRCm39) |
Y27C |
probably benign |
Het |
| Fgf2 |
A |
G |
3: 37,458,860 (GRCm39) |
K85E |
probably damaging |
Het |
| Fubp1 |
A |
T |
3: 151,931,783 (GRCm39) |
Q37L |
probably benign |
Het |
| Gabra2 |
G |
T |
5: 71,251,882 (GRCm39) |
P22T |
probably damaging |
Het |
| Gm10401 |
T |
C |
5: 115,236,245 (GRCm39) |
|
probably benign |
Het |
| Iglv3 |
A |
G |
16: 19,060,034 (GRCm39) |
I98T |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,311,709 (GRCm39) |
R922H |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,290,607 (GRCm39) |
T474A |
probably damaging |
Het |
| Pcdhb20 |
A |
C |
18: 37,639,218 (GRCm39) |
E581D |
probably benign |
Het |
| Pidd1 |
G |
T |
7: 141,019,331 (GRCm39) |
T750K |
probably benign |
Het |
| Pigq |
A |
T |
17: 26,150,630 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
A |
G |
17: 29,358,784 (GRCm39) |
E324G |
probably benign |
Het |
| Slc24a3 |
C |
T |
2: 145,458,630 (GRCm39) |
Q537* |
probably null |
Het |
| Slc34a1 |
T |
C |
13: 24,006,372 (GRCm39) |
I466T |
possibly damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,894,689 (GRCm39) |
V116A |
probably damaging |
Het |
| Taf15 |
T |
A |
11: 83,389,915 (GRCm39) |
N228K |
probably damaging |
Het |
| Tbx19 |
A |
T |
1: 164,975,202 (GRCm39) |
|
probably null |
Het |
| Tgoln1 |
A |
G |
6: 72,592,538 (GRCm39) |
V314A |
possibly damaging |
Het |
| Them4 |
A |
T |
3: 94,231,678 (GRCm39) |
I172F |
probably damaging |
Het |
| Tmc7 |
T |
A |
7: 118,146,846 (GRCm39) |
Y477F |
probably benign |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn2r11 |
T |
G |
5: 109,194,976 (GRCm39) |
R783S |
possibly damaging |
Het |
| Zfp180 |
G |
T |
7: 23,805,306 (GRCm39) |
C575F |
probably damaging |
Het |
| Zfp189 |
A |
T |
4: 49,529,026 (GRCm39) |
N43I |
probably damaging |
Het |
| Zfp36l2 |
A |
G |
17: 84,493,521 (GRCm39) |
|
probably benign |
Het |
| Zfp592 |
T |
C |
7: 80,673,576 (GRCm39) |
V180A |
probably benign |
Het |
| Zfp605 |
C |
T |
5: 110,275,311 (GRCm39) |
P143L |
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,482,505 (GRCm39) |
S1561P |
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 |
|
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 |
|
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'- TTGAGAAGCTGTTCCCTTGGAG -3'
(R):5'- CAAAATGGTGTGGGAGATCCTG -3'
Sequencing Primer
(F):5'- AAGCTGTTCCCTTGGAGACGTAC -3'
(R):5'- TGTCTGAGCGGGACATCAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation