Incidental Mutation 'R7287:Tmem132d'
| ID |
566080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132d
|
| Ensembl Gene |
ENSMUSG00000034310 |
| Gene Name |
transmembrane protein 132D |
| Synonyms |
C630028F04Rik |
| MMRRC Submission |
045321-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R7287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
127860555-128510141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 128061415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 396
(Q396K)
|
| 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: Q396K
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: Q396K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,604,861 (GRCm39) |
D656G |
possibly damaging |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,762,534 (GRCm39) |
H1209R |
probably damaging |
Het |
| Adam26a |
T |
C |
8: 44,023,380 (GRCm39) |
T37A |
possibly damaging |
Het |
| Adamts9 |
C |
T |
6: 92,866,984 (GRCm39) |
R685Q |
possibly damaging |
Het |
| Anapc7 |
T |
A |
5: 122,571,499 (GRCm39) |
N191K |
probably benign |
Het |
| Ankrd26 |
C |
T |
6: 118,526,598 (GRCm39) |
|
probably null |
Het |
| Ap5z1 |
T |
C |
5: 142,459,802 (GRCm39) |
L484P |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,063,993 (GRCm39) |
D77G |
|
Het |
| Atp10a |
T |
A |
7: 58,477,017 (GRCm39) |
D1213E |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,328,395 (GRCm39) |
L275P |
probably damaging |
Het |
| Bltp2 |
G |
A |
11: 78,163,709 (GRCm39) |
R1059H |
possibly damaging |
Het |
| Cab39 |
A |
G |
1: 85,746,182 (GRCm39) |
E21G |
probably benign |
Het |
| Capn15 |
G |
T |
17: 26,179,429 (GRCm39) |
S948R |
probably damaging |
Het |
| Cbarp |
T |
C |
10: 79,973,154 (GRCm39) |
T15A |
unknown |
Het |
| Ccdc81 |
C |
T |
7: 89,542,331 (GRCm39) |
A182T |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,922,688 (GRCm39) |
H766R |
probably benign |
Het |
| Cfl1 |
T |
C |
19: 5,542,562 (GRCm39) |
V14A |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,850,312 (GRCm39) |
I875T |
probably benign |
Het |
| Cidec |
T |
A |
6: 113,405,359 (GRCm39) |
E121D |
probably benign |
Het |
| Clpx |
C |
A |
9: 65,207,295 (GRCm39) |
Y64* |
probably null |
Het |
| Cntn1 |
T |
A |
15: 92,143,833 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
A |
G |
2: 170,327,826 (GRCm39) |
L472P |
probably damaging |
Het |
| Dcdc2c |
G |
T |
12: 28,566,685 (GRCm39) |
D159E |
probably benign |
Het |
| Emp1 |
T |
C |
6: 135,357,167 (GRCm39) |
F82L |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,404 (GRCm39) |
T619A |
probably benign |
Het |
| Fgf15 |
A |
T |
7: 144,450,531 (GRCm39) |
D39V |
probably benign |
Het |
| Galnt12 |
T |
G |
4: 47,108,525 (GRCm39) |
F221V |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,628,965 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
G |
A |
4: 137,256,867 (GRCm39) |
V1537I |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,025,154 (GRCm39) |
|
probably null |
Het |
| Insr |
G |
A |
8: 3,219,717 (GRCm39) |
T935I |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,747,677 (GRCm39) |
C1031Y |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Kmt5b |
T |
C |
19: 3,854,501 (GRCm39) |
Y255H |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,051,877 (GRCm39) |
Y292N |
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,917,717 (GRCm39) |
F318S |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,070,076 (GRCm39) |
N311D |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nlrp9b |
T |
C |
7: 19,762,381 (GRCm39) |
C673R |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,612,563 (GRCm39) |
V74A |
probably benign |
Het |
| Or10ak12 |
T |
A |
4: 118,666,939 (GRCm39) |
T41S |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,669 (GRCm39) |
I47F |
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,690,347 (GRCm39) |
Q677L |
probably benign |
Het |
| Pmel |
C |
T |
10: 128,551,095 (GRCm39) |
Q113* |
probably null |
Het |
| Pom121l2 |
T |
A |
13: 22,168,502 (GRCm39) |
F924L |
probably benign |
Het |
| Poteg |
G |
A |
8: 27,943,372 (GRCm39) |
R214K |
probably null |
Het |
| Pprc1 |
G |
T |
19: 46,059,793 (GRCm39) |
S1480I |
unknown |
Het |
| Secisbp2l |
A |
G |
2: 125,582,289 (GRCm39) |
S1056P |
probably benign |
Het |
| Selenoo |
T |
C |
15: 88,982,903 (GRCm39) |
F477L |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
| Slc25a11 |
T |
C |
11: 70,536,181 (GRCm39) |
D211G |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,253,752 (GRCm39) |
D131G |
probably benign |
Het |
| Tcf25 |
G |
A |
8: 124,100,711 (GRCm39) |
A34T |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,205,818 (GRCm39) |
Y530H |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tmem154 |
A |
G |
3: 84,597,870 (GRCm39) |
T136A |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,763,742 (GRCm39) |
T415A |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,517,925 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
T |
C |
7: 4,128,657 (GRCm39) |
Y185H |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,254,852 (GRCm39) |
T535S |
probably benign |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,201 (GRCm39) |
L23P |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,040 (GRCm39) |
H78L |
possibly damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,460 (GRCm39) |
T608A |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,614,430 (GRCm39) |
I1104V |
|
Het |
| Zbtb2 |
C |
T |
10: 4,318,986 (GRCm39) |
D347N |
possibly damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,575,453 (GRCm39) |
S543T |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,692 (GRCm39) |
N518S |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,016,775 (GRCm39) |
V852A |
possibly 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 |
|
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 |
|
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'- GGTGCTTGCTGATTGACATCC -3'
(R):5'- TGGTGGTCAGTCCTTAAATTGCC -3'
Sequencing Primer
(F):5'- GATTGACATCCTTGACCCCTAAG -3'
(R):5'- CAGTCCTTAAATTGCCCAAGACTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation