Incidental Mutation 'R2424:Tmem132d'
| ID |
249482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132d
|
| Ensembl Gene |
ENSMUSG00000034310 |
| Gene Name |
transmembrane protein 132D |
| Synonyms |
C630028F04Rik |
| MMRRC Submission |
040386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R2424 (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 127941663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 479
(V479A)
|
| 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: V479A
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: V479A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,590,159 (GRCm39) |
|
probably null |
Het |
| Acot3 |
G |
T |
12: 84,100,638 (GRCm39) |
R138L |
probably damaging |
Het |
| Ago3 |
A |
G |
4: 126,298,040 (GRCm39) |
V160A |
probably damaging |
Het |
| Akap9 |
A |
C |
5: 4,115,279 (GRCm39) |
E166D |
probably damaging |
Het |
| Arid5a |
T |
C |
1: 36,357,582 (GRCm39) |
Y136H |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,494,297 (GRCm39) |
V244A |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,444,303 (GRCm39) |
H560L |
probably benign |
Het |
| Btbd6 |
A |
G |
12: 112,941,980 (GRCm39) |
T482A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,770,980 (GRCm39) |
Y1828N |
probably damaging |
Het |
| Capzb |
A |
G |
4: 138,921,441 (GRCm39) |
M1V |
probably null |
Het |
| Cdh9 |
T |
G |
15: 16,850,440 (GRCm39) |
F524L |
probably damaging |
Het |
| Ctnna1 |
T |
C |
18: 35,386,760 (GRCm39) |
S846P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dock7 |
T |
A |
4: 98,833,544 (GRCm39) |
R1886* |
probably null |
Het |
| Dpp3 |
A |
T |
19: 4,957,735 (GRCm39) |
L711* |
probably null |
Het |
| Dst |
T |
A |
1: 34,206,141 (GRCm39) |
I566N |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,928,045 (GRCm39) |
S421R |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,011,828 (GRCm39) |
V825A |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,341,072 (GRCm39) |
|
probably benign |
Het |
| Fam187a |
T |
C |
11: 102,776,780 (GRCm39) |
Y195H |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,336,859 (GRCm39) |
C132Y |
probably damaging |
Het |
| Fbxw21 |
A |
T |
9: 108,986,587 (GRCm39) |
Y97* |
probably null |
Het |
| Grin1 |
A |
T |
2: 25,208,664 (GRCm39) |
C79S |
probably null |
Het |
| Haao |
T |
A |
17: 84,142,991 (GRCm39) |
Y118F |
probably damaging |
Het |
| Il11ra1 |
T |
A |
4: 41,768,222 (GRCm39) |
S378T |
probably damaging |
Het |
| Kcnj5 |
A |
T |
9: 32,234,116 (GRCm39) |
N66K |
probably damaging |
Het |
| Kif21a |
T |
A |
15: 90,855,399 (GRCm39) |
N668I |
probably damaging |
Het |
| Kprp |
A |
T |
3: 92,732,912 (GRCm39) |
L46Q |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,105,660 (GRCm39) |
T2056I |
probably benign |
Het |
| Madd |
G |
C |
2: 90,996,967 (GRCm39) |
D824E |
probably damaging |
Het |
| Mapk9 |
A |
G |
11: 49,754,499 (GRCm39) |
N84S |
probably damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,527,748 (GRCm39) |
V160A |
probably benign |
Het |
| Mrpl9 |
T |
C |
3: 94,351,113 (GRCm39) |
S98P |
probably benign |
Het |
| Mybpc3 |
A |
T |
2: 90,966,138 (GRCm39) |
M1233L |
probably benign |
Het |
| Neb |
A |
G |
2: 52,099,671 (GRCm39) |
|
probably benign |
Het |
| Ngly1 |
A |
G |
14: 16,290,721 (GRCm38) |
|
probably null |
Het |
| Nt5c1b |
A |
T |
12: 10,420,072 (GRCm39) |
T4S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,885,277 (GRCm39) |
|
probably benign |
Het |
| Or2h2c |
T |
C |
17: 37,422,408 (GRCm39) |
I155M |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,272,281 (GRCm39) |
Y193C |
probably damaging |
Het |
| Or8b1b |
T |
C |
9: 38,376,128 (GRCm39) |
S264P |
probably damaging |
Het |
| Or8g53 |
A |
G |
9: 39,683,593 (GRCm39) |
F168L |
probably benign |
Het |
| Otog |
A |
T |
7: 45,947,593 (GRCm39) |
K64* |
probably null |
Het |
| Papola |
A |
G |
12: 105,793,311 (GRCm39) |
T544A |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,297,002 (GRCm39) |
V790A |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,845,430 (GRCm39) |
R1252S |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,730 (GRCm39) |
T691A |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,783,111 (GRCm39) |
I159F |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,792,560 (GRCm39) |
E62V |
probably benign |
Het |
| Rnase1 |
A |
G |
14: 51,383,004 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Rnf214 |
T |
C |
9: 45,811,096 (GRCm39) |
D189G |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 79,869,023 (GRCm39) |
N365S |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,446,590 (GRCm39) |
H2480R |
probably benign |
Het |
| Slc27a6 |
G |
T |
18: 58,738,189 (GRCm39) |
C415F |
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,057,612 (GRCm39) |
I142V |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,014,590 (GRCm39) |
I1070V |
possibly damaging |
Het |
| Tbp |
T |
C |
17: 15,733,795 (GRCm39) |
F174L |
possibly damaging |
Het |
| Tex26 |
A |
G |
5: 149,393,913 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,711,489 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
T |
A |
8: 124,757,165 (GRCm39) |
N957K |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,256,310 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
T |
C |
17: 23,515,842 (GRCm39) |
T550A |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,161 (GRCm39) |
V296A |
probably damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,431 (GRCm39) |
Y699* |
probably null |
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 |
|
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'- CAGGCATGGGTTATAGCAGTG -3'
(R):5'- CAGGAAGAGACATCCTCACGTTC -3'
Sequencing Primer
(F):5'- ATAGCAGTGTATATCCTATTTGGCG -3'
(R):5'- AGAGACATCCTCACGTTCAGGTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation