Incidental Mutation 'R2276:Tmem132d'
ID |
242797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem132d
|
Ensembl Gene |
ENSMUSG00000034310 |
Gene Name |
transmembrane protein 132D |
Synonyms |
C630028F04Rik |
MMRRC Submission |
040275-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R2276 (G1)
|
Quality Score |
174 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
127860555-128510141 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 127872987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 541
(R541W)
|
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: R541W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043633 Gene: ENSMUSG00000034310 AA Change: R541W
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
Ankrd27 |
T |
C |
7: 35,315,265 (GRCm39) |
|
probably benign |
Het |
Anxa3 |
T |
C |
5: 96,978,349 (GRCm39) |
|
probably null |
Het |
Arfgef2 |
G |
C |
2: 166,707,679 (GRCm39) |
G1025A |
probably benign |
Het |
Arhgap21 |
T |
C |
2: 20,868,037 (GRCm39) |
I829V |
possibly damaging |
Het |
Arhgap42 |
T |
C |
9: 9,035,512 (GRCm39) |
M277V |
probably benign |
Het |
Cep112 |
A |
T |
11: 108,746,671 (GRCm39) |
R176S |
probably damaging |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Cpped1 |
A |
C |
16: 11,712,745 (GRCm39) |
|
probably null |
Het |
Cr2 |
T |
C |
1: 194,839,676 (GRCm39) |
R960G |
possibly damaging |
Het |
Dbf4 |
T |
C |
5: 8,471,333 (GRCm39) |
N36S |
possibly damaging |
Het |
Dnah6 |
G |
A |
6: 73,090,564 (GRCm39) |
S2210L |
probably benign |
Het |
Dnajb12 |
C |
T |
10: 59,728,799 (GRCm39) |
T229I |
probably benign |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Epb41l2 |
T |
C |
10: 25,364,842 (GRCm39) |
|
probably benign |
Het |
Fam178b |
A |
G |
1: 36,671,539 (GRCm39) |
L194P |
probably damaging |
Het |
Fam50b |
C |
T |
13: 34,930,823 (GRCm39) |
Q100* |
probably null |
Het |
Gimap9 |
A |
G |
6: 48,654,812 (GRCm39) |
H133R |
probably benign |
Het |
Gpbp1 |
A |
T |
13: 111,603,512 (GRCm39) |
|
probably null |
Het |
Gpr89 |
A |
G |
3: 96,804,743 (GRCm39) |
Y38H |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,732,105 (GRCm39) |
Y307F |
probably benign |
Het |
H4c16 |
T |
A |
6: 136,781,299 (GRCm39) |
I27F |
probably damaging |
Het |
Hip1 |
C |
T |
5: 135,485,900 (GRCm39) |
R101K |
probably damaging |
Het |
Hsf4 |
G |
A |
8: 105,996,628 (GRCm39) |
D18N |
probably null |
Het |
Igfn1 |
T |
C |
1: 135,892,479 (GRCm39) |
K2214E |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,927,919 (GRCm39) |
E1038V |
probably null |
Het |
Kank2 |
C |
A |
9: 21,681,080 (GRCm39) |
M816I |
probably damaging |
Het |
Kctd15 |
T |
C |
7: 34,344,366 (GRCm39) |
D95G |
possibly damaging |
Het |
Kif1a |
A |
T |
1: 92,996,199 (GRCm39) |
|
probably benign |
Het |
Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,885,429 (GRCm39) |
F432L |
probably damaging |
Het |
Madd |
A |
T |
2: 90,974,028 (GRCm39) |
C1419S |
possibly damaging |
Het |
Nisch |
T |
C |
14: 30,898,803 (GRCm39) |
|
probably benign |
Het |
Or2h1b |
A |
T |
17: 37,462,145 (GRCm39) |
C239* |
probably null |
Het |
Osbpl2 |
G |
A |
2: 179,790,319 (GRCm39) |
G198S |
possibly damaging |
Het |
Pclo |
T |
A |
5: 14,764,287 (GRCm39) |
D4253E |
unknown |
Het |
Phactr1 |
A |
T |
13: 43,231,265 (GRCm39) |
S244C |
possibly damaging |
Het |
Pja2 |
T |
C |
17: 64,599,865 (GRCm39) |
S478G |
probably damaging |
Het |
Prex1 |
A |
T |
2: 166,419,875 (GRCm39) |
I79N |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,612,321 (GRCm39) |
D24G |
probably damaging |
Het |
Rars2 |
T |
C |
4: 34,656,835 (GRCm39) |
S495P |
probably damaging |
Het |
Rhebl1 |
A |
T |
15: 98,776,167 (GRCm39) |
D162E |
probably benign |
Het |
Rhou |
T |
C |
8: 124,382,258 (GRCm39) |
V100A |
probably damaging |
Het |
Rpn2 |
A |
G |
2: 157,152,208 (GRCm39) |
T394A |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,479,664 (GRCm39) |
M4386K |
possibly damaging |
Het |
Scmh1 |
G |
T |
4: 120,340,869 (GRCm39) |
C185F |
probably damaging |
Het |
Sema3d |
A |
T |
5: 12,592,549 (GRCm39) |
Q326L |
possibly damaging |
Het |
Sis |
T |
A |
3: 72,821,934 (GRCm39) |
K1376* |
probably null |
Het |
Slc25a29 |
T |
C |
12: 108,792,852 (GRCm39) |
E242G |
probably benign |
Het |
Slc26a5 |
A |
G |
5: 22,028,545 (GRCm39) |
V304A |
probably benign |
Het |
Slc39a7 |
C |
T |
17: 34,250,241 (GRCm39) |
|
probably benign |
Het |
Slco1a4 |
A |
G |
6: 141,761,308 (GRCm39) |
V435A |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
Tgm5 |
T |
A |
2: 120,879,304 (GRCm39) |
|
probably benign |
Het |
Tgm7 |
A |
G |
2: 120,929,045 (GRCm39) |
S284P |
probably damaging |
Het |
Tmem170 |
C |
A |
8: 112,596,349 (GRCm39) |
V59L |
probably benign |
Het |
Tpbgl |
G |
T |
7: 99,275,233 (GRCm39) |
A208E |
possibly damaging |
Het |
Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
Ulk1 |
T |
C |
5: 110,936,028 (GRCm39) |
E827G |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,687,790 (GRCm39) |
V886A |
possibly damaging |
Het |
Wrn |
A |
T |
8: 33,814,584 (GRCm39) |
C44S |
probably benign |
Het |
Zscan22 |
T |
A |
7: 12,640,750 (GRCm39) |
C331* |
probably null |
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 |
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 |
|
R7826:Tmem132d
|
UTSW |
5 |
127,866,953 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GAAGCTAGCCATCTGTCTGCTTC -3'
(R):5'- GCAATGAAGTTCACCTCCCC -3'
Sequencing Primer
(F):5'- CCCTCCTCAAGTTTAACCATAGTGG -3'
(R):5'- CACCAGGTTTCTGACAGATGTGAC -3'
|
Posted On |
2014-10-16 |