Incidental Mutation 'R1741:Tmem132d'
ID |
200339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem132d
|
Ensembl Gene |
ENSMUSG00000034310 |
Gene Name |
transmembrane protein 132D |
Synonyms |
C630028F04Rik |
MMRRC Submission |
039773-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R1741 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
127860555-128510141 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 127861922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 733
(M733R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044441]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044441
AA Change: M733R
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000043633 Gene: ENSMUSG00000034310 AA Change: M733R
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: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034E13Rik |
A |
G |
18: 52,793,578 (GRCm39) |
N37S |
probably damaging |
Het |
Acad10 |
T |
C |
5: 121,785,899 (GRCm39) |
K230R |
probably damaging |
Het |
Actl7a |
A |
G |
4: 56,744,252 (GRCm39) |
N260D |
probably benign |
Het |
Adam24 |
T |
C |
8: 41,132,642 (GRCm39) |
Y37H |
probably benign |
Het |
Ahcy |
G |
A |
2: 154,906,154 (GRCm39) |
A229V |
probably benign |
Het |
Ap3b2 |
A |
G |
7: 81,117,347 (GRCm39) |
V563A |
possibly damaging |
Het |
Bcl9l |
T |
A |
9: 44,420,986 (GRCm39) |
M1427K |
probably damaging |
Het |
Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
Btg4 |
A |
T |
9: 51,027,910 (GRCm39) |
I27L |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,539,076 (GRCm39) |
Y366C |
probably damaging |
Het |
Chd3 |
A |
G |
11: 69,246,480 (GRCm39) |
Y1085H |
probably damaging |
Het |
Cnot10 |
T |
C |
9: 114,426,892 (GRCm39) |
D616G |
possibly damaging |
Het |
Crlf1 |
C |
A |
8: 70,953,556 (GRCm39) |
D243E |
probably damaging |
Het |
Cyp2b23 |
A |
G |
7: 26,372,502 (GRCm39) |
V371A |
possibly damaging |
Het |
Dennd2a |
A |
G |
6: 39,470,091 (GRCm39) |
S534P |
probably damaging |
Het |
Eln |
A |
G |
5: 134,758,038 (GRCm39) |
V185A |
unknown |
Het |
Epor |
C |
T |
9: 21,871,067 (GRCm39) |
G301D |
probably damaging |
Het |
Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
Fbxl21 |
A |
T |
13: 56,684,915 (GRCm39) |
T340S |
probably benign |
Het |
Fcgbpl1 |
G |
T |
7: 27,857,279 (GRCm39) |
C2209F |
probably damaging |
Het |
Fez1 |
T |
A |
9: 36,755,029 (GRCm39) |
D9E |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,820,256 (GRCm39) |
F5330L |
probably benign |
Het |
Glis1 |
G |
A |
4: 107,425,544 (GRCm39) |
R197Q |
probably damaging |
Het |
Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
Gpr158 |
A |
G |
2: 21,832,359 (GRCm39) |
N1153S |
probably benign |
Het |
Gramd4 |
T |
C |
15: 85,975,730 (GRCm39) |
|
probably null |
Het |
Hhatl |
T |
A |
9: 121,618,125 (GRCm39) |
Y210F |
possibly damaging |
Het |
Hltf |
T |
C |
3: 20,140,352 (GRCm39) |
W422R |
probably damaging |
Het |
Hspa5 |
T |
C |
2: 34,662,704 (GRCm39) |
S87P |
possibly damaging |
Het |
Il21 |
T |
C |
3: 37,281,811 (GRCm39) |
H111R |
probably benign |
Het |
Ip6k1 |
G |
A |
9: 107,918,183 (GRCm39) |
G73S |
probably benign |
Het |
Kdm5b |
A |
G |
1: 134,545,755 (GRCm39) |
D972G |
possibly damaging |
Het |
Kif21b |
C |
T |
1: 136,083,880 (GRCm39) |
A709V |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,743,115 (GRCm39) |
|
probably benign |
Het |
Lrrc14b |
A |
G |
13: 74,511,705 (GRCm39) |
L125P |
probably damaging |
Het |
Mapk8ip3 |
A |
G |
17: 25,118,828 (GRCm39) |
S1169P |
probably damaging |
Het |
Me3 |
A |
T |
7: 89,501,041 (GRCm39) |
Y584F |
probably damaging |
Het |
Mxra7 |
T |
G |
11: 116,707,070 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
C |
11: 79,334,757 (GRCm39) |
S870P |
probably benign |
Het |
Npr2 |
G |
A |
4: 43,643,350 (GRCm39) |
G525S |
probably damaging |
Het |
Nyap1 |
A |
T |
5: 137,731,387 (GRCm39) |
S726T |
probably damaging |
Het |
Padi4 |
A |
G |
4: 140,473,481 (GRCm39) |
V652A |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,726,524 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
G |
A |
4: 99,822,062 (GRCm39) |
|
probably null |
Het |
Piezo2 |
A |
G |
18: 63,154,244 (GRCm39) |
S2512P |
probably damaging |
Het |
Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
Ptpn3 |
A |
G |
4: 57,254,922 (GRCm39) |
V154A |
probably damaging |
Het |
Rassf4 |
T |
C |
6: 116,616,450 (GRCm39) |
E287G |
probably damaging |
Het |
Rnh1 |
C |
T |
7: 140,743,936 (GRCm39) |
R174H |
probably benign |
Het |
Scn9a |
T |
A |
2: 66,317,938 (GRCm39) |
I1517F |
probably damaging |
Het |
Sftpb |
C |
A |
6: 72,282,797 (GRCm39) |
A90E |
probably benign |
Het |
Slc39a14 |
T |
C |
14: 70,556,193 (GRCm39) |
K61R |
probably damaging |
Het |
Tmem248 |
A |
G |
5: 130,265,664 (GRCm39) |
I156V |
probably benign |
Het |
Traf2 |
T |
C |
2: 25,414,495 (GRCm39) |
D339G |
probably damaging |
Het |
Trappc11 |
A |
G |
8: 47,982,362 (GRCm39) |
|
probably null |
Het |
Tuba8 |
T |
A |
6: 121,199,727 (GRCm39) |
I137N |
possibly damaging |
Het |
Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,314,103 (GRCm39) |
T663A |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,038,431 (GRCm39) |
F669I |
probably damaging |
Het |
Wdr95 |
G |
A |
5: 149,518,861 (GRCm39) |
|
probably null |
Het |
Wfdc8 |
T |
G |
2: 164,450,789 (GRCm39) |
|
probably benign |
Het |
Zfp64 |
A |
C |
2: 168,768,238 (GRCm39) |
V458G |
probably benign |
Het |
Zfp868 |
C |
T |
8: 70,064,519 (GRCm39) |
G272D |
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 |
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 |
|
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'- CTCTTCCGCTTAGACTTCTGGCAAG -3'
(R):5'- TGGTAAAGCATCTCGTGGCTTTCTC -3'
Sequencing Primer
(F):5'- GACTTCTGGCAAGATTCACTG -3'
(R):5'- cacagacagagacagagacag -3'
|
Posted On |
2014-05-23 |