Incidental Mutation 'R0113:Tmem132d'
ID |
20575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem132d
|
Ensembl Gene |
ENSMUSG00000034310 |
Gene Name |
transmembrane protein 132D |
Synonyms |
C630028F04Rik |
MMRRC Submission |
038399-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R0113 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
5 |
Chromosomal Location |
127860555-128510141 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 127861657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 821
(N821K)
|
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: N821K
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000043633 Gene: ENSMUSG00000034310 AA Change: N821K
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: 99.2%
- 3x: 98.1%
- 10x: 95.2%
- 20x: 87.5%
|
Validation Efficiency |
99% (70/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3930402G23Rik |
A |
G |
8: 10,976,126 (GRCm39) |
|
noncoding transcript |
Het |
Abca13 |
A |
T |
11: 9,242,114 (GRCm39) |
I1326F |
possibly damaging |
Het |
Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
Aspscr1 |
C |
G |
11: 120,579,751 (GRCm39) |
Q97E |
probably damaging |
Het |
Atad2 |
A |
G |
15: 57,984,330 (GRCm39) |
|
probably benign |
Het |
Atcay |
A |
T |
10: 81,050,554 (GRCm39) |
|
probably null |
Het |
Brme1 |
C |
T |
8: 84,893,871 (GRCm39) |
T311I |
probably damaging |
Het |
C4b |
T |
A |
17: 34,960,214 (GRCm39) |
Y279F |
probably damaging |
Het |
Cav1 |
A |
T |
6: 17,308,048 (GRCm39) |
S67C |
possibly damaging |
Het |
Ceacam23 |
G |
A |
7: 17,642,873 (GRCm39) |
|
noncoding transcript |
Het |
Celf2 |
A |
C |
2: 6,629,525 (GRCm39) |
H113Q |
probably damaging |
Het |
Cep170 |
A |
C |
1: 176,586,021 (GRCm39) |
N590K |
probably damaging |
Het |
Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
Chrna1 |
C |
A |
2: 73,397,180 (GRCm39) |
D370Y |
possibly damaging |
Het |
Csmd1 |
C |
A |
8: 16,034,849 (GRCm39) |
G2441C |
probably damaging |
Het |
D630003M21Rik |
C |
T |
2: 158,038,495 (GRCm39) |
D984N |
possibly damaging |
Het |
Dhrs1 |
T |
C |
14: 55,977,396 (GRCm39) |
T241A |
probably benign |
Het |
Edar |
A |
C |
10: 58,465,271 (GRCm39) |
C31G |
probably damaging |
Het |
Eps8 |
A |
G |
6: 137,514,682 (GRCm39) |
S24P |
possibly damaging |
Het |
Fam149a |
T |
C |
8: 45,794,061 (GRCm39) |
E669G |
probably damaging |
Het |
Fcrla |
A |
T |
1: 170,749,868 (GRCm39) |
M1K |
probably null |
Het |
G3bp1 |
T |
A |
11: 55,386,252 (GRCm39) |
V237E |
probably benign |
Het |
Galnt5 |
A |
G |
2: 57,888,889 (GRCm39) |
E163G |
probably benign |
Het |
Gpr87 |
T |
C |
3: 59,086,932 (GRCm39) |
D192G |
possibly damaging |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Ints1 |
T |
C |
5: 139,750,968 (GRCm39) |
T810A |
|
Het |
Kalrn |
A |
G |
16: 33,870,306 (GRCm39) |
|
probably benign |
Het |
Kcnk6 |
T |
C |
7: 28,931,634 (GRCm39) |
D92G |
probably damaging |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mfsd6 |
A |
T |
1: 52,748,348 (GRCm39) |
N172K |
probably damaging |
Het |
Mtcl1 |
G |
T |
17: 66,661,237 (GRCm39) |
Q1225K |
possibly damaging |
Het |
Nav2 |
C |
T |
7: 49,185,701 (GRCm39) |
T948M |
probably damaging |
Het |
Nfic |
T |
C |
10: 81,256,419 (GRCm39) |
K104E |
probably damaging |
Het |
Nup58 |
G |
A |
14: 60,488,740 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,965,241 (GRCm39) |
K1608N |
probably damaging |
Het |
Or10n1 |
T |
A |
9: 39,525,298 (GRCm39) |
I145K |
probably benign |
Het |
Or1j21 |
G |
A |
2: 36,684,006 (GRCm39) |
G253R |
probably damaging |
Het |
Or1j21 |
G |
T |
2: 36,684,007 (GRCm39) |
G253V |
probably damaging |
Het |
Phf21b |
T |
C |
15: 84,688,968 (GRCm39) |
D186G |
probably damaging |
Het |
Poli |
C |
T |
18: 70,661,829 (GRCm39) |
C57Y |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Psg23 |
T |
C |
7: 18,345,927 (GRCm39) |
Y256C |
probably benign |
Het |
Satb1 |
C |
A |
17: 52,089,726 (GRCm39) |
E374* |
probably null |
Het |
Scn4a |
C |
T |
11: 106,236,262 (GRCm39) |
E333K |
probably benign |
Het |
Sec14l2 |
C |
T |
11: 4,053,661 (GRCm39) |
|
probably benign |
Het |
Slain1 |
T |
C |
14: 103,923,261 (GRCm39) |
|
probably benign |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Syne2 |
T |
C |
12: 75,977,352 (GRCm39) |
S1266P |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,080,496 (GRCm39) |
E4810G |
probably damaging |
Het |
Tbck |
T |
C |
3: 132,448,841 (GRCm39) |
I618T |
probably damaging |
Het |
Trim28 |
T |
A |
7: 12,762,628 (GRCm39) |
V381E |
probably damaging |
Het |
Ttc1 |
T |
C |
11: 43,636,115 (GRCm39) |
S43G |
probably benign |
Het |
Ube2u |
A |
G |
4: 100,338,852 (GRCm39) |
E39G |
possibly damaging |
Het |
Urb2 |
T |
C |
8: 124,757,665 (GRCm39) |
V1124A |
probably benign |
Het |
Usp13 |
A |
G |
3: 32,872,025 (GRCm39) |
|
probably benign |
Het |
Vmn1r216 |
A |
T |
13: 23,283,631 (GRCm39) |
S105C |
probably damaging |
Het |
Yipf2 |
T |
C |
9: 21,501,412 (GRCm39) |
T23A |
probably damaging |
Het |
Zfp521 |
G |
A |
18: 13,978,148 (GRCm39) |
T755M |
probably damaging |
Het |
Zfp619 |
T |
A |
7: 39,187,183 (GRCm39) |
M1071K |
probably benign |
Het |
Zfp942 |
A |
T |
17: 22,148,066 (GRCm39) |
C188S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCTTGCTCCTCAAAGGGAACCTG -3'
(R):5'- GGACCCCAAATTCAAGTGGCCTATC -3'
Sequencing Primer
(F):5'- CTCAAAGGGAACCTGCTTGTG -3'
(R):5'- CAAGTGGCCTATCATTGCTG -3'
|
Posted On |
2013-04-11 |