Incidental Mutation 'R2035:Tmem132d'
| ID |
224451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132d
|
| Ensembl Gene |
ENSMUSG00000034310 |
| Gene Name |
transmembrane protein 132D |
| Synonyms |
C630028F04Rik |
| MMRRC Submission |
040042-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R2035 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
127860555-128510141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127869522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 604
(D604G)
|
| 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: D604G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: D604G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,760,761 (GRCm39) |
*1273Q |
probably null |
Het |
| Aars2 |
A |
G |
17: 45,825,727 (GRCm39) |
I348V |
possibly damaging |
Het |
| Abca8b |
G |
A |
11: 109,847,932 (GRCm39) |
R788C |
possibly damaging |
Het |
| Abhd15 |
T |
C |
11: 77,406,536 (GRCm39) |
L171P |
probably damaging |
Het |
| Abi3bp |
A |
T |
16: 56,480,581 (GRCm39) |
H686L |
probably benign |
Het |
| Acsl1 |
A |
G |
8: 46,981,621 (GRCm39) |
Y456C |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,973,624 (GRCm39) |
V2561D |
probably benign |
Het |
| B3galnt2 |
T |
A |
13: 14,140,909 (GRCm39) |
F44I |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,730,338 (GRCm39) |
H24Q |
possibly damaging |
Het |
| Ccdc163 |
T |
C |
4: 116,568,530 (GRCm39) |
S195P |
probably damaging |
Het |
| Cd163 |
A |
T |
6: 124,297,588 (GRCm39) |
K911N |
probably damaging |
Het |
| Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,671,489 (GRCm39) |
D120E |
possibly damaging |
Het |
| Dnali1 |
C |
T |
4: 124,952,903 (GRCm39) |
V207M |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,354,128 (GRCm39) |
Q3036R |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,310,494 (GRCm39) |
R4098H |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,760,525 (GRCm39) |
N1741K |
probably benign |
Het |
| Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
| Entr1 |
T |
A |
2: 26,273,639 (GRCm39) |
S374C |
probably damaging |
Het |
| Ess2 |
A |
G |
16: 17,727,950 (GRCm39) |
|
probably null |
Het |
| F8 |
ATCTCTCTC |
ATCTCTC |
X: 74,366,604 (GRCm39) |
|
probably null |
Het |
| Gm4841 |
T |
G |
18: 60,402,929 (GRCm39) |
Y388S |
probably benign |
Het |
| Grin3a |
T |
C |
4: 49,771,336 (GRCm39) |
T479A |
probably damaging |
Het |
| Gucy2e |
C |
A |
11: 69,118,358 (GRCm39) |
V743L |
probably benign |
Het |
| Il33 |
T |
A |
19: 29,932,037 (GRCm39) |
N143K |
probably damaging |
Het |
| Ism1 |
T |
A |
2: 139,599,075 (GRCm39) |
S349R |
probably damaging |
Het |
| Itgb2 |
T |
A |
10: 77,383,033 (GRCm39) |
D134E |
probably damaging |
Het |
| Kcnk1 |
A |
C |
8: 126,752,108 (GRCm39) |
N238T |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 26,386,721 (GRCm39) |
V535L |
probably benign |
Het |
| Muc19 |
T |
A |
15: 91,776,599 (GRCm39) |
|
noncoding transcript |
Het |
| Mycbp2 |
A |
T |
14: 103,497,675 (GRCm39) |
Y966N |
probably damaging |
Het |
| Myo19 |
A |
T |
11: 84,788,434 (GRCm39) |
M349L |
probably benign |
Het |
| Narf |
G |
A |
11: 121,129,326 (GRCm39) |
A37T |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,161,491 (GRCm39) |
N208D |
probably benign |
Het |
| Nr1i2 |
A |
G |
16: 38,071,488 (GRCm39) |
|
probably null |
Het |
| Opn5 |
A |
G |
17: 42,918,052 (GRCm39) |
I70T |
probably damaging |
Het |
| Or52e19 |
T |
A |
7: 102,959,463 (GRCm39) |
H178Q |
probably damaging |
Het |
| Or7a38 |
T |
C |
10: 78,753,421 (GRCm39) |
V249A |
possibly damaging |
Het |
| Pkn2 |
G |
T |
3: 142,526,348 (GRCm39) |
P410T |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,253,080 (GRCm39) |
N1337S |
probably damaging |
Het |
| Prkd3 |
A |
T |
17: 79,282,802 (GRCm39) |
|
probably null |
Het |
| Pum2 |
T |
A |
12: 8,778,638 (GRCm39) |
Y429* |
probably null |
Het |
| Resf1 |
G |
A |
6: 149,230,724 (GRCm39) |
V1257I |
possibly damaging |
Het |
| Rttn |
T |
A |
18: 89,038,340 (GRCm39) |
V812E |
probably damaging |
Het |
| Rufy2 |
T |
A |
10: 62,842,526 (GRCm39) |
L483H |
probably damaging |
Het |
| Slc35a3 |
T |
A |
3: 116,480,972 (GRCm39) |
Q97L |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,872,552 (GRCm39) |
M96L |
probably benign |
Het |
| Strc |
G |
A |
2: 121,205,415 (GRCm39) |
A905V |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,924,386 (GRCm39) |
M338V |
probably benign |
Het |
| Syngr2 |
A |
G |
11: 117,704,186 (GRCm39) |
D187G |
probably benign |
Het |
| Tas2r109 |
A |
C |
6: 132,957,423 (GRCm39) |
I169R |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,275,266 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
T |
A |
2: 117,948,821 (GRCm39) |
|
probably null |
Het |
| Them6 |
C |
A |
15: 74,593,524 (GRCm39) |
D127E |
probably damaging |
Het |
| Tnni1 |
A |
G |
1: 135,733,330 (GRCm39) |
T51A |
probably benign |
Het |
| Topors |
T |
C |
4: 40,262,879 (GRCm39) |
N135S |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,645,752 (GRCm39) |
D1476V |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,573 (GRCm39) |
V264A |
probably benign |
Het |
| Vmn1r193 |
T |
A |
13: 22,403,732 (GRCm39) |
T87S |
probably benign |
Het |
| Vmn1r202 |
C |
A |
13: 22,685,772 (GRCm39) |
R215L |
probably damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,019 (GRCm39) |
N782I |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,332,438 (GRCm39) |
F404L |
possibly damaging |
Het |
| Xpo4 |
A |
T |
14: 57,823,383 (GRCm39) |
C1036S |
possibly damaging |
Het |
| Yae1d1 |
T |
C |
13: 18,164,306 (GRCm39) |
N104D |
probably benign |
Het |
| Zan |
C |
A |
5: 137,442,209 (GRCm39) |
R1901L |
unknown |
Het |
| Zbtb9 |
G |
A |
17: 27,193,897 (GRCm39) |
R434H |
probably damaging |
Het |
| Zdhhc23 |
A |
C |
16: 43,793,871 (GRCm39) |
C268G |
probably damaging |
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 |
|
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 |
|
|
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'- ACAGACAGTTGAGCAATTCACC -3'
(R):5'- CCAAGCCATAACTCTTTGGAGG -3'
Sequencing Primer
(F):5'- TTGAGCAATTCACCTGGCAG -3'
(R):5'- GCCATAACTCTTTGGAGGTAGACTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation