Incidental Mutation 'R7826:Tmem132d'
| ID |
602178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132d
|
| Ensembl Gene |
ENSMUSG00000034310 |
| Gene Name |
transmembrane protein 132D |
| Synonyms |
C630028F04Rik |
| MMRRC Submission |
045880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R7826 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
127860555-128510141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127866953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 649
(I649T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044441]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044441
AA Change: I649T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: I649T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:TMEM132D_N
|
49 |
178 |
1.9e-59 |
PFAM |
|
Pfam:TMEM132
|
435 |
778 |
3.9e-150 |
PFAM |
|
Pfam:TMEM132D_C
|
884 |
970 |
1.9e-37 |
PFAM |
|
low complexity region
|
998 |
1011 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8192 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
C |
A |
2: 25,468,477 (GRCm39) |
R478L |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,229,153 (GRCm39) |
T521A |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Btbd9 |
A |
T |
17: 30,553,301 (GRCm39) |
I387N |
probably benign |
Het |
| Ccdc27 |
C |
T |
4: 154,123,958 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
T |
11: 29,453,563 (GRCm39) |
H1642L |
probably benign |
Het |
| Cd300c2 |
C |
T |
11: 114,891,644 (GRCm39) |
V77I |
possibly damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,670,550 (GRCm39) |
S63T |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,793,410 (GRCm39) |
P467L |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,367,958 (GRCm39) |
T2781M |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,485,344 (GRCm39) |
D86G |
possibly damaging |
Het |
| Echs1 |
T |
A |
7: 139,696,349 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
C |
T |
4: 136,663,498 (GRCm39) |
M483I |
probably benign |
Het |
| Eprs1 |
T |
G |
1: 185,139,165 (GRCm39) |
V850G |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,392,561 (GRCm39) |
C114* |
probably null |
Het |
| Gm5160 |
C |
T |
18: 14,558,129 (GRCm39) |
R69C |
probably benign |
Het |
| Gpr75 |
A |
G |
11: 30,841,209 (GRCm39) |
H38R |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,319,197 (GRCm39) |
V230A |
probably benign |
Het |
| Lonp2 |
C |
T |
8: 87,435,641 (GRCm39) |
P626S |
probably damaging |
Het |
| Lrrtm1 |
G |
T |
6: 77,221,095 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
T |
C |
3: 100,489,455 (GRCm39) |
E508G |
probably damaging |
Het |
| Mipep |
C |
A |
14: 61,039,580 (GRCm39) |
A203E |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,299,668 (GRCm39) |
C753S |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,139,467 (GRCm39) |
E568G |
probably benign |
Het |
| Naca |
T |
A |
10: 127,879,479 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
G |
A |
14: 14,860,846 (GRCm38) |
|
probably null |
Het |
| Nf2 |
T |
C |
11: 4,739,750 (GRCm39) |
T419A |
probably benign |
Het |
| Npas3 |
A |
G |
12: 53,878,539 (GRCm39) |
T164A |
possibly damaging |
Het |
| Nudcd3 |
T |
A |
11: 6,100,581 (GRCm39) |
I124F |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,423 (GRCm39) |
*315Q |
probably null |
Het |
| Pappa2 |
A |
T |
1: 158,764,010 (GRCm39) |
C500* |
probably null |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,995 (GRCm39) |
S442T |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,105,752 (GRCm39) |
N105D |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Pzp |
T |
C |
6: 128,464,496 (GRCm39) |
T1344A |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,573,097 (GRCm39) |
I312V |
possibly damaging |
Het |
| Rsf1 |
A |
G |
7: 97,310,368 (GRCm39) |
|
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,903,851 (GRCm39) |
I150L |
probably benign |
Het |
| Smpd5 |
T |
C |
15: 76,180,496 (GRCm39) |
S433P |
probably benign |
Het |
| Spats1 |
C |
T |
17: 45,763,644 (GRCm39) |
D209N |
probably damaging |
Het |
| Spcs2 |
C |
T |
7: 99,488,984 (GRCm39) |
G235R |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,389,115 (GRCm39) |
M165T |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,337 (GRCm39) |
D775G |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,419,245 (GRCm39) |
D264G |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,132,710 (GRCm39) |
L218H |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,006,939 (GRCm39) |
Y114H |
probably damaging |
Het |
| Triml1 |
A |
T |
8: 43,591,803 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,715,220 (GRCm39) |
|
probably benign |
Het |
| Utrn |
C |
T |
10: 12,277,050 (GRCm39) |
|
probably null |
Het |
| Uty |
T |
C |
Y: 1,137,716 (GRCm39) |
K887E |
possibly damaging |
Het |
| Zfand2b |
T |
C |
1: 75,145,502 (GRCm39) |
F3L |
possibly damaging |
Het |
| Zfp280d |
C |
A |
9: 72,219,953 (GRCm39) |
Q243K |
possibly damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,668 (GRCm39) |
F544L |
probably benign |
Het |
|
| Other mutations in Tmem132d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Tmem132d
|
APN |
5 |
127,861,896 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01393:Tmem132d
|
APN |
5 |
127,861,702 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01482:Tmem132d
|
APN |
5 |
128,346,270 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01785:Tmem132d
|
APN |
5 |
128,061,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02409:Tmem132d
|
APN |
5 |
127,861,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02539:Tmem132d
|
APN |
5 |
127,861,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03411:Tmem132d
|
APN |
5 |
128,061,347 (GRCm39) |
nonsense |
probably null |
|
|
R0113:Tmem132d
|
UTSW |
5 |
127,861,657 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0420:Tmem132d
|
UTSW |
5 |
127,941,710 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0437:Tmem132d
|
UTSW |
5 |
127,866,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0468:Tmem132d
|
UTSW |
5 |
128,346,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0564:Tmem132d
|
UTSW |
5 |
127,861,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Tmem132d
|
UTSW |
5 |
128,061,351 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0924:Tmem132d
|
UTSW |
5 |
128,061,503 (GRCm39) |
splice site |
probably benign |
|
|
R1209:Tmem132d
|
UTSW |
5 |
127,861,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1333:Tmem132d
|
UTSW |
5 |
127,861,923 (GRCm39) |
missense |
probably benign |
|
|
R1378:Tmem132d
|
UTSW |
5 |
128,346,011 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1741:Tmem132d
|
UTSW |
5 |
127,861,922 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1753:Tmem132d
|
UTSW |
5 |
127,866,919 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1944:Tmem132d
|
UTSW |
5 |
127,860,828 (GRCm39) |
makesense |
probably null |
|
|
R1974:Tmem132d
|
UTSW |
5 |
128,346,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2035:Tmem132d
|
UTSW |
5 |
127,869,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2065:Tmem132d
|
UTSW |
5 |
127,861,505 (GRCm39) |
missense |
probably benign |
|
|
R2074:Tmem132d
|
UTSW |
5 |
128,346,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Tmem132d
|
UTSW |
5 |
127,872,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2297:Tmem132d
|
UTSW |
5 |
128,345,608 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2424:Tmem132d
|
UTSW |
5 |
127,941,663 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2902:Tmem132d
|
UTSW |
5 |
127,860,832 (GRCm39) |
missense |
probably benign |
|
|
R3053:Tmem132d
|
UTSW |
5 |
127,869,538 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3836:Tmem132d
|
UTSW |
5 |
127,861,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Tmem132d
|
UTSW |
5 |
128,345,884 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4236:Tmem132d
|
UTSW |
5 |
128,509,389 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4358:Tmem132d
|
UTSW |
5 |
128,061,405 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4610:Tmem132d
|
UTSW |
5 |
128,061,360 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4686:Tmem132d
|
UTSW |
5 |
127,869,674 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4814:Tmem132d
|
UTSW |
5 |
128,061,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4883:Tmem132d
|
UTSW |
5 |
128,346,366 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4883:Tmem132d
|
UTSW |
5 |
128,346,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4939:Tmem132d
|
UTSW |
5 |
127,873,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Tmem132d
|
UTSW |
5 |
127,873,064 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5652:Tmem132d
|
UTSW |
5 |
127,861,859 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5801:Tmem132d
|
UTSW |
5 |
127,861,964 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5900:Tmem132d
|
UTSW |
5 |
128,346,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5980:Tmem132d
|
UTSW |
5 |
127,861,662 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6048:Tmem132d
|
UTSW |
5 |
128,346,181 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6057:Tmem132d
|
UTSW |
5 |
127,861,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Tmem132d
|
UTSW |
5 |
127,861,164 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6505:Tmem132d
|
UTSW |
5 |
127,861,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6522:Tmem132d
|
UTSW |
5 |
127,860,832 (GRCm39) |
missense |
probably benign |
|
|
R6540:Tmem132d
|
UTSW |
5 |
128,345,596 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6717:Tmem132d
|
UTSW |
5 |
127,861,485 (GRCm39) |
missense |
probably benign |
|
|
R7158:Tmem132d
|
UTSW |
5 |
128,214,083 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7287:Tmem132d
|
UTSW |
5 |
128,061,415 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7526:Tmem132d
|
UTSW |
5 |
127,861,205 (GRCm39) |
nonsense |
probably null |
|
|
R7864:Tmem132d
|
UTSW |
5 |
127,860,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8124:Tmem132d
|
UTSW |
5 |
127,869,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8543:Tmem132d
|
UTSW |
5 |
128,345,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8694:Tmem132d
|
UTSW |
5 |
127,869,495 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8936:Tmem132d
|
UTSW |
5 |
127,869,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9017:Tmem132d
|
UTSW |
5 |
128,346,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9017:Tmem132d
|
UTSW |
5 |
127,866,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9163:Tmem132d
|
UTSW |
5 |
127,869,570 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9257:Tmem132d
|
UTSW |
5 |
127,861,491 (GRCm39) |
nonsense |
probably null |
|
|
R9645:Tmem132d
|
UTSW |
5 |
128,346,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Tmem132d
|
UTSW |
5 |
128,061,375 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9711:Tmem132d
|
UTSW |
5 |
127,869,579 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGCCACTTCCTTACCTG -3'
(R):5'- ACATGGACTTGCTACCTGCTC -3'
Sequencing Primer
(F):5'- ACCTGTTTGGGCCTCTGCAG -3'
(R):5'- ACCTGCTCCATGTTGTTATGTAGAAG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation