Incidental Mutation 'R5801:Tmem132d'
| ID |
448340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132d
|
| Ensembl Gene |
ENSMUSG00000034310 |
| Gene Name |
transmembrane protein 132D |
| Synonyms |
C630028F04Rik |
| MMRRC Submission |
043390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R5801 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
127860555-128510141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127861964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 719
(V719A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044441]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044441
AA Change: V719A
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: V719A
| 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 |
0.0844 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
| Adam15 |
C |
T |
3: 89,249,668 (GRCm39) |
V667I |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,038,775 (GRCm39) |
S912G |
probably damaging |
Het |
| Adamts20 |
C |
A |
15: 94,245,551 (GRCm39) |
E584* |
probably null |
Het |
| Ago3 |
A |
T |
4: 126,265,561 (GRCm39) |
N284K |
possibly damaging |
Het |
| Alx3 |
T |
A |
3: 107,512,257 (GRCm39) |
Y298* |
probably null |
Het |
| Arhgap32 |
A |
G |
9: 32,167,084 (GRCm39) |
I574V |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,694,299 (GRCm39) |
D400G |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,484,281 (GRCm39) |
H525L |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,778,523 (GRCm39) |
E674G |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,970,863 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Col5a2 |
T |
C |
1: 45,428,641 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
A |
G |
9: 105,825,566 (GRCm39) |
V9A |
unknown |
Het |
| Cpsf7 |
A |
T |
19: 10,516,996 (GRCm39) |
D366V |
probably benign |
Het |
| Cuedc2 |
T |
C |
19: 46,319,796 (GRCm39) |
E173G |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,761,913 (GRCm39) |
E1318G |
probably damaging |
Het |
| Ddx55 |
T |
C |
5: 124,704,560 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
T |
A |
1: 138,967,727 (GRCm39) |
|
probably null |
Het |
| Dpy19l3 |
T |
C |
7: 35,424,723 (GRCm39) |
T111A |
probably benign |
Het |
| Edn1 |
C |
A |
13: 42,460,282 (GRCm39) |
A179E |
probably benign |
Het |
| Eif2b1 |
T |
C |
5: 124,712,775 (GRCm39) |
|
probably null |
Het |
| Epha5 |
A |
G |
5: 84,479,085 (GRCm39) |
|
probably null |
Het |
| Erc1 |
T |
A |
6: 119,750,783 (GRCm39) |
N466I |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,590,228 (GRCm39) |
F825L |
probably damaging |
Het |
| Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,461,515 (GRCm39) |
F64L |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,312,216 (GRCm39) |
S14P |
probably benign |
Het |
| Gm6505 |
A |
T |
3: 28,819,116 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv1-18 |
T |
A |
12: 114,646,328 (GRCm39) |
D91V |
probably damaging |
Het |
| Imp3 |
A |
G |
9: 56,845,086 (GRCm39) |
D99G |
probably benign |
Het |
| Iqub |
T |
C |
6: 24,449,768 (GRCm39) |
K699R |
probably benign |
Het |
| Itpk1 |
A |
G |
12: 102,540,204 (GRCm39) |
V293A |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,509,916 (GRCm39) |
F157L |
probably damaging |
Het |
| Mapk1ip1 |
T |
A |
7: 138,438,239 (GRCm39) |
T64S |
possibly damaging |
Het |
| Mrpl9 |
T |
C |
3: 94,355,103 (GRCm39) |
L225P |
possibly damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,279,150 (GRCm39) |
L1136S |
possibly damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,279,246 (GRCm39) |
I1104K |
possibly damaging |
Het |
| Nkain2 |
T |
C |
10: 32,278,264 (GRCm39) |
T54A |
probably damaging |
Het |
| Ociad2 |
A |
G |
5: 73,483,642 (GRCm39) |
F60S |
probably damaging |
Het |
| Or1e1f |
T |
C |
11: 73,855,772 (GRCm39) |
F113L |
probably benign |
Het |
| Polk |
T |
A |
13: 96,620,094 (GRCm39) |
H723L |
probably damaging |
Het |
| Prickle4 |
C |
A |
17: 47,999,698 (GRCm39) |
R285L |
possibly damaging |
Het |
| Psmd2 |
A |
G |
16: 20,473,672 (GRCm39) |
N121S |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,582 (GRCm39) |
S1212C |
probably damaging |
Het |
| Rasgef1c |
T |
G |
11: 49,860,883 (GRCm39) |
M266R |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,181,369 (GRCm39) |
E155G |
possibly damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,831,703 (GRCm39) |
S155P |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,870,103 (GRCm39) |
Y991C |
possibly damaging |
Het |
| Shank1 |
G |
A |
7: 44,006,240 (GRCm39) |
E1986K |
possibly damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,001,149 (GRCm39) |
F482L |
probably benign |
Het |
| Slc35e3 |
T |
A |
10: 117,581,767 (GRCm39) |
M109L |
probably benign |
Het |
| Slco4c1 |
T |
C |
1: 96,799,809 (GRCm39) |
N9S |
probably damaging |
Het |
| Slco6b1 |
C |
T |
1: 96,875,356 (GRCm39) |
|
noncoding transcript |
Het |
| Sptan1 |
A |
G |
2: 29,920,613 (GRCm39) |
|
probably null |
Het |
| Sptlc2 |
T |
C |
12: 87,388,545 (GRCm39) |
|
probably null |
Het |
| Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
| Strip1 |
A |
C |
3: 107,528,757 (GRCm39) |
L391R |
possibly damaging |
Het |
| Tacr1 |
T |
A |
6: 82,534,134 (GRCm39) |
S387T |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,908,125 (GRCm39) |
F213I |
probably damaging |
Het |
| Thbs3 |
A |
T |
3: 89,131,704 (GRCm39) |
Y692F |
probably benign |
Het |
| Tktl2 |
C |
A |
8: 66,966,299 (GRCm39) |
A619E |
probably benign |
Het |
| Tmc3 |
A |
T |
7: 83,271,686 (GRCm39) |
E946V |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,968,302 (GRCm39) |
H488R |
probably damaging |
Het |
| Tsfm |
TCACTCC |
TCACTCCACTCC |
10: 126,858,706 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,056,723 (GRCm39) |
T503A |
possibly damaging |
Het |
| Zfp109 |
T |
C |
7: 23,928,126 (GRCm39) |
K436E |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,585,990 (GRCm39) |
Y78H |
probably damaging |
Het |
| Zfp970 |
A |
G |
2: 177,165,151 (GRCm39) |
K26E |
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 |
|
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 |
|
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'- CTGGCAAGATTCACTGATGAGC -3'
(R):5'- TGCTCCACATGTTGACCTAC -3'
Sequencing Primer
(F):5'- GGCAAGATTCACTGATGAGCATCTC -3'
(R):5'- ATGCTCTACATGTTGACCCAATTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation