Incidental Mutation 'R8124:Tmem132d'
| ID |
631638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132d
|
| Ensembl Gene |
ENSMUSG00000034310 |
| Gene Name |
transmembrane protein 132D |
| Synonyms |
C630028F04Rik |
| MMRRC Submission |
067553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R8124 (G1)
|
| Quality Score |
171.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
127860555-128510141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127869624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 570
(Q570R)
|
| 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: Q570R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: Q570R
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.5%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap3 |
T |
A |
5: 24,683,128 (GRCm39) |
I320N |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,487 (GRCm39) |
G1924S |
probably damaging |
Het |
| Ap2a2 |
G |
A |
7: 141,178,757 (GRCm39) |
R141H |
probably benign |
Het |
| Atf7ip2 |
T |
C |
16: 10,026,999 (GRCm39) |
V89A |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Dab2 |
T |
A |
15: 6,458,878 (GRCm39) |
C263* |
probably null |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,497,142 (GRCm39) |
I1119N |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,623,099 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
G |
A |
18: 78,008,211 (GRCm39) |
A780T |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,451 (GRCm39) |
D1546G |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| F13a1 |
T |
C |
13: 37,209,779 (GRCm39) |
K62R |
probably damaging |
Het |
| Gm2832 |
T |
C |
14: 41,000,894 (GRCm39) |
M44T |
|
Het |
| Gm9195 |
T |
C |
14: 72,680,063 (GRCm39) |
I2249V |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,290,136 (GRCm39) |
V2323A |
probably benign |
Het |
| Ice2 |
T |
A |
9: 69,307,777 (GRCm39) |
N20K |
probably damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,863 (GRCm39) |
F146S |
probably damaging |
Het |
| Lgi3 |
A |
G |
14: 70,772,178 (GRCm39) |
Y241C |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,022,954 (GRCm39) |
D275E |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,784,005 (GRCm39) |
S444R |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,511,257 (GRCm39) |
V237A |
unknown |
Het |
| Mip |
T |
C |
10: 128,062,070 (GRCm39) |
V107A |
possibly damaging |
Het |
| Mtrex |
A |
C |
13: 113,063,871 (GRCm39) |
D7E |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,398,279 (GRCm39) |
V1581M |
|
Het |
| Nckap1l |
A |
G |
15: 103,382,248 (GRCm39) |
D481G |
possibly damaging |
Het |
| Obox3 |
A |
T |
7: 15,323,874 (GRCm39) |
|
probably null |
Het |
| Or11h4 |
C |
T |
14: 50,973,743 (GRCm39) |
R292H |
probably benign |
Het |
| Or2d3 |
G |
A |
7: 106,491,088 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or5a21 |
T |
A |
19: 12,310,834 (GRCm39) |
N129Y |
probably damaging |
Het |
| Or5p1 |
C |
A |
7: 107,916,984 (GRCm39) |
N294K |
possibly damaging |
Het |
| Or8g27 |
T |
C |
9: 39,128,967 (GRCm39) |
F105L |
probably benign |
Het |
| Pilrb2 |
T |
A |
5: 137,869,306 (GRCm39) |
E98V |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,257,775 (GRCm39) |
V1053A |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,861,835 (GRCm39) |
V485E |
probably damaging |
Het |
| Riox2 |
G |
A |
16: 59,306,954 (GRCm39) |
E282K |
probably benign |
Het |
| Rps6ka2 |
T |
A |
17: 7,549,228 (GRCm39) |
V379E |
possibly damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,729,211 (GRCm38) |
E20K |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,210,711 (GRCm39) |
|
probably null |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tent4a |
G |
A |
13: 69,681,716 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
T |
C |
2: 120,222,676 (GRCm39) |
T168A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,207,995 (GRCm39) |
R1747G |
probably benign |
Het |
| Txk |
C |
T |
5: 72,860,606 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,852,373 (GRCm39) |
L862F |
possibly damaging |
Het |
| Wdr64 |
A |
T |
1: 175,626,844 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
G |
T |
2: 120,354,812 (GRCm39) |
Q1343K |
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,239,314 (GRCm39) |
T301A |
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 |
|
|
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 |
|
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'- GAATAGTGGTCATGCCCAGCTC -3'
(R):5'- TGTCACACTGGTGGTTTAGC -3'
Sequencing Primer
(F):5'- TGGCCAGTCAGGATCTGC -3'
(R):5'- ACTGGTGGTTTAGCACCCTGAATC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation