Incidental Mutation 'R1378:Tmem132d'
| ID |
162937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132d
|
| Ensembl Gene |
ENSMUSG00000034310 |
| Gene Name |
transmembrane protein 132D |
| Synonyms |
C630028F04Rik |
| MMRRC Submission |
039442-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R1378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
127860555-128510141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128346011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 170
(F170L)
|
| 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: F170L
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: F170L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200316
|
| Meta Mutation Damage Score |
0.1759 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,126,030 (GRCm39) |
T342A |
probably damaging |
Het |
| Alg1 |
A |
G |
16: 5,061,580 (GRCm39) |
N406D |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,239,246 (GRCm39) |
M825K |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,450 (GRCm39) |
I4117K |
probably damaging |
Het |
| Brinp2 |
A |
T |
1: 158,074,624 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,842,570 (GRCm39) |
V789D |
probably benign |
Het |
| Ccdc153 |
C |
G |
9: 44,154,958 (GRCm39) |
L94V |
probably null |
Het |
| Ccna1 |
A |
G |
3: 54,957,150 (GRCm39) |
V237A |
probably damaging |
Het |
| Cct7 |
T |
A |
6: 85,444,545 (GRCm39) |
|
probably null |
Het |
| Cenpb |
C |
T |
2: 131,020,230 (GRCm39) |
|
probably benign |
Het |
| Chrne |
T |
A |
11: 70,505,956 (GRCm39) |
|
probably null |
Het |
| Clstn3 |
T |
A |
6: 124,415,378 (GRCm39) |
D662V |
probably damaging |
Het |
| Clu |
G |
T |
14: 66,212,350 (GRCm39) |
C189F |
probably damaging |
Het |
| Cstdc5 |
A |
G |
16: 36,179,929 (GRCm39) |
C63R |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,973,052 (GRCm39) |
R1388C |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,571,696 (GRCm39) |
|
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,280 (GRCm39) |
T1236A |
probably benign |
Het |
| Edn2 |
A |
G |
4: 120,019,095 (GRCm39) |
E28G |
probably benign |
Het |
| Elp3 |
T |
C |
14: 65,830,380 (GRCm39) |
I24V |
probably benign |
Het |
| Faap24 |
T |
C |
7: 35,092,326 (GRCm39) |
E197G |
probably benign |
Het |
| Fam13a |
T |
A |
6: 58,933,736 (GRCm39) |
M285L |
probably benign |
Het |
| Gm9944 |
T |
A |
4: 144,179,773 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,731,435 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,201,373 (GRCm39) |
I624F |
probably damaging |
Het |
| Ift22 |
A |
C |
5: 136,941,757 (GRCm39) |
K133T |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,429,394 (GRCm39) |
K316I |
possibly damaging |
Het |
| Klra17 |
T |
A |
6: 129,842,647 (GRCm39) |
E217V |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,130,402 (GRCm39) |
V657E |
probably damaging |
Het |
| Nlrp4d |
C |
A |
7: 10,098,111 (GRCm39) |
K850N |
probably benign |
Het |
| Nsmce4a |
C |
T |
7: 130,139,900 (GRCm39) |
R276Q |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,962 (GRCm39) |
L203P |
probably damaging |
Het |
| Or4p8 |
T |
A |
2: 88,727,370 (GRCm39) |
R190S |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,475 (GRCm39) |
D123G |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,145 (GRCm39) |
R95* |
probably null |
Het |
| Pclo |
T |
C |
5: 14,732,327 (GRCm39) |
S3610P |
probably benign |
Het |
| Pon3 |
T |
G |
6: 5,230,813 (GRCm39) |
D238A |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,547,751 (GRCm39) |
|
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,658,297 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,711 (GRCm39) |
Y1652C |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,799,871 (GRCm39) |
|
probably null |
Het |
| Soat1 |
A |
G |
1: 156,294,352 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,065,244 (GRCm39) |
N1558I |
probably damaging |
Het |
| Tro |
G |
T |
X: 149,438,567 (GRCm39) |
P30Q |
probably damaging |
Het |
| Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
| Unc45b |
G |
A |
11: 82,827,678 (GRCm39) |
S725N |
probably benign |
Het |
| Vmn2r7 |
A |
G |
3: 64,599,025 (GRCm39) |
S511P |
possibly damaging |
Het |
| Vps35l |
G |
T |
7: 118,393,795 (GRCm39) |
E515* |
probably null |
Het |
| Vps35l |
A |
T |
7: 118,393,796 (GRCm39) |
E515V |
probably damaging |
Het |
| Zfp174 |
G |
A |
16: 3,667,353 (GRCm39) |
E181K |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGAAGACGCTCCCAATTCTATGC -3'
(R):5'- ACATTCTCCCTCAACTGGAGGCTG -3'
Sequencing Primer
(F):5'- AACATCATTGTGGCCTGCTG -3'
(R):5'- CTCAACTGGAGGCTGAAGGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation