Incidental Mutation 'IGL01393:Tmem132d'
| ID |
79287 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem132d
|
| Ensembl Gene |
ENSMUSG00000034310 |
| Gene Name |
transmembrane protein 132D |
| Synonyms |
C630028F04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL01393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
127860555-128510141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127861702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 806
(S806R)
|
| 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: S806R
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: S806R
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
A |
14: 35,818,379 (GRCm39) |
V126I |
possibly damaging |
Het |
| A630073D07Rik |
G |
T |
6: 132,603,577 (GRCm39) |
Q60K |
unknown |
Het |
| Alpk2 |
A |
G |
18: 65,440,779 (GRCm39) |
S205P |
possibly damaging |
Het |
| Ang4 |
T |
A |
14: 52,001,670 (GRCm39) |
I93L |
probably benign |
Het |
| Arpin |
A |
G |
7: 79,581,588 (GRCm39) |
V44A |
possibly damaging |
Het |
| Atxn3 |
A |
T |
12: 101,899,306 (GRCm39) |
C263* |
probably null |
Het |
| Cd209f |
T |
C |
8: 4,153,154 (GRCm39) |
N260S |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,861,969 (GRCm39) |
R50G |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,006,818 (GRCm39) |
S1060P |
unknown |
Het |
| Csmd3 |
C |
T |
15: 48,320,995 (GRCm39) |
V272I |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,206,706 (GRCm39) |
Y1136F |
possibly damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,026 (GRCm39) |
Y420C |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,554,321 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,160,135 (GRCm39) |
D3326G |
probably benign |
Het |
| Filip1l |
A |
G |
16: 57,392,586 (GRCm39) |
N820S |
probably damaging |
Het |
| Gm26566 |
G |
A |
4: 88,640,581 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
A |
G |
10: 94,134,304 (GRCm39) |
L22P |
unknown |
Het |
| Gpat2 |
A |
G |
2: 127,274,571 (GRCm39) |
E386G |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,639,856 (GRCm39) |
D63G |
probably benign |
Het |
| Hdc |
A |
G |
2: 126,436,581 (GRCm39) |
V430A |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,393,492 (GRCm39) |
|
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,687,865 (GRCm39) |
D215G |
probably damaging |
Het |
| Kctd3 |
T |
C |
1: 188,732,487 (GRCm39) |
I74V |
probably benign |
Het |
| Kctd5 |
A |
T |
17: 24,278,292 (GRCm39) |
|
probably null |
Het |
| Lrsam1 |
A |
T |
2: 32,845,185 (GRCm39) |
|
probably benign |
Het |
| Mblac1 |
A |
G |
5: 138,193,036 (GRCm39) |
N126S |
possibly damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,937,692 (GRCm39) |
|
probably benign |
Het |
| Mpp3 |
A |
T |
11: 101,916,304 (GRCm39) |
L16Q |
probably damaging |
Het |
| Mrgprb1 |
C |
A |
7: 48,097,754 (GRCm39) |
A53S |
possibly damaging |
Het |
| Nbea |
C |
A |
3: 55,912,729 (GRCm39) |
M1019I |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,103,599 (GRCm39) |
K22R |
probably null |
Het |
| Or1j4 |
G |
A |
2: 36,740,553 (GRCm39) |
R165Q |
probably benign |
Het |
| Or2ag18 |
C |
T |
7: 106,405,642 (GRCm39) |
G9E |
probably benign |
Het |
| Or4k48 |
A |
G |
2: 111,475,601 (GRCm39) |
V247A |
probably damaging |
Het |
| Pard6b |
T |
A |
2: 167,929,298 (GRCm39) |
S35T |
probably benign |
Het |
| Peli1 |
T |
C |
11: 21,097,400 (GRCm39) |
V215A |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,178,269 (GRCm39) |
D1003V |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,744,630 (GRCm39) |
R625* |
probably null |
Het |
| Ppp1r16a |
T |
C |
15: 76,578,744 (GRCm39) |
S483P |
probably benign |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Prrg3 |
T |
C |
X: 71,011,123 (GRCm39) |
V210A |
probably benign |
Het |
| Rev1 |
A |
G |
1: 38,131,144 (GRCm39) |
V168A |
probably damaging |
Het |
| Sez6l |
G |
T |
5: 112,586,261 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,934,926 (GRCm39) |
T711A |
possibly damaging |
Het |
| Spice1 |
A |
G |
16: 44,186,993 (GRCm39) |
I163M |
probably benign |
Het |
| Tex13c1 |
C |
T |
X: 42,680,233 (GRCm39) |
A66V |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,932,291 (GRCm39) |
|
probably benign |
Het |
| Tpbg |
T |
A |
9: 85,726,145 (GRCm39) |
V38E |
unknown |
Het |
| Unc13c |
T |
A |
9: 73,447,552 (GRCm39) |
I1883F |
probably benign |
Het |
| Vmn2r61 |
A |
C |
7: 41,916,258 (GRCm39) |
Q290H |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,180,719 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,442,288 (GRCm39) |
V294A |
possibly damaging |
Het |
| Zfp821 |
T |
A |
8: 110,436,110 (GRCm39) |
|
probably benign |
Het |
| Zfp941 |
C |
T |
7: 140,391,841 (GRCm39) |
G506E |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation