Incidental Mutation 'R3436:Tmem132e'
ID |
267198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem132e
|
Ensembl Gene |
ENSMUSG00000020701 |
Gene Name |
transmembrane protein 132E |
Synonyms |
LOC270893 |
MMRRC Submission |
040654-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.517)
|
Stock # |
R3436 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
82279726-82337158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82335156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 654
(Y654C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054245]
[ENSMUST00000092852]
|
AlphaFold |
Q6IEE6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054245
AA Change: Y746C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052484 Gene: ENSMUSG00000020701 AA Change: Y746C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:TMEM132D_N
|
45 |
176 |
1.1e-52 |
PFAM |
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
low complexity region
|
241 |
262 |
N/A |
INTRINSIC |
low complexity region
|
318 |
328 |
N/A |
INTRINSIC |
Pfam:TMEM132
|
451 |
797 |
1.7e-136 |
PFAM |
low complexity region
|
827 |
837 |
N/A |
INTRINSIC |
low complexity region
|
841 |
854 |
N/A |
INTRINSIC |
Pfam:TMEM132D_C
|
867 |
944 |
2e-34 |
PFAM |
low complexity region
|
967 |
998 |
N/A |
INTRINSIC |
low complexity region
|
1016 |
1027 |
N/A |
INTRINSIC |
low complexity region
|
1036 |
1043 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092852
AA Change: Y654C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090528 Gene: ENSMUSG00000020701 AA Change: Y654C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
226 |
236 |
N/A |
INTRINSIC |
low complexity region
|
471 |
489 |
N/A |
INTRINSIC |
low complexity region
|
735 |
745 |
N/A |
INTRINSIC |
low complexity region
|
749 |
762 |
N/A |
INTRINSIC |
transmembrane domain
|
798 |
820 |
N/A |
INTRINSIC |
low complexity region
|
875 |
906 |
N/A |
INTRINSIC |
low complexity region
|
924 |
935 |
N/A |
INTRINSIC |
low complexity region
|
944 |
951 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202598
|
Meta Mutation Damage Score |
0.6213 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
Angptl3 |
A |
T |
4: 98,921,540 (GRCm39) |
K219N |
probably benign |
Het |
Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
Cadps |
A |
T |
14: 12,616,158 (GRCm38) |
|
probably null |
Het |
Ccdc146 |
A |
G |
5: 21,502,003 (GRCm39) |
S804P |
possibly damaging |
Het |
Cdc20b |
T |
C |
13: 113,215,233 (GRCm39) |
I267T |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 100,127,350 (GRCm39) |
|
probably benign |
Het |
Dse |
G |
T |
10: 34,028,470 (GRCm39) |
N873K |
probably benign |
Het |
Ehd1 |
G |
T |
19: 6,327,044 (GRCm39) |
E14* |
probably null |
Het |
F8 |
A |
G |
X: 74,311,030 (GRCm39) |
|
probably benign |
Het |
Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
Fndc1 |
T |
C |
17: 7,969,189 (GRCm39) |
K1559E |
probably damaging |
Het |
Ighg1 |
T |
C |
12: 113,293,180 (GRCm39) |
E170G |
probably damaging |
Het |
Kmt2b |
G |
T |
7: 30,276,117 (GRCm39) |
P1794Q |
probably damaging |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
Or2n1e |
G |
A |
17: 38,586,421 (GRCm39) |
G253D |
probably damaging |
Het |
Or4c102 |
T |
A |
2: 88,422,448 (GRCm39) |
F100Y |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,767,478 (GRCm39) |
N1271D |
probably benign |
Het |
Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
Prr16 |
A |
G |
18: 51,436,195 (GRCm39) |
N225D |
probably benign |
Het |
Pwwp2a |
C |
T |
11: 43,597,015 (GRCm39) |
Q452* |
probably null |
Het |
Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
Sort1 |
T |
A |
3: 108,245,123 (GRCm39) |
I325N |
probably damaging |
Het |
Tmprss11b |
A |
T |
5: 86,815,443 (GRCm39) |
Y48* |
probably null |
Het |
Tpp2 |
T |
C |
1: 43,979,304 (GRCm39) |
I67T |
probably damaging |
Het |
Trdn |
G |
A |
10: 33,344,191 (GRCm39) |
|
probably null |
Het |
Trim14 |
C |
T |
4: 46,523,739 (GRCm39) |
V100I |
possibly damaging |
Het |
Trim17 |
T |
C |
11: 58,856,059 (GRCm39) |
C39R |
probably damaging |
Het |
Trim52 |
C |
T |
14: 106,344,741 (GRCm39) |
P133L |
possibly damaging |
Het |
Unc13b |
T |
C |
4: 43,097,028 (GRCm39) |
|
probably benign |
Het |
Vmn2r94 |
G |
A |
17: 18,478,650 (GRCm39) |
|
probably benign |
Het |
Vsig4 |
A |
G |
X: 95,334,422 (GRCm39) |
V29A |
probably benign |
Het |
Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
Wnk3 |
T |
A |
X: 150,069,300 (GRCm39) |
F886I |
probably benign |
Het |
Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
Zfp507 |
A |
T |
7: 35,487,195 (GRCm39) |
Y234N |
probably damaging |
Het |
|
Other mutations in Tmem132e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01576:Tmem132e
|
APN |
11 |
82,329,200 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01586:Tmem132e
|
APN |
11 |
82,325,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01729:Tmem132e
|
APN |
11 |
82,325,942 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02592:Tmem132e
|
APN |
11 |
82,325,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R0029:Tmem132e
|
UTSW |
11 |
82,335,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R0501:Tmem132e
|
UTSW |
11 |
82,325,894 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0612:Tmem132e
|
UTSW |
11 |
82,334,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R0613:Tmem132e
|
UTSW |
11 |
82,329,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R1311:Tmem132e
|
UTSW |
11 |
82,335,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R1430:Tmem132e
|
UTSW |
11 |
82,329,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R1607:Tmem132e
|
UTSW |
11 |
82,328,196 (GRCm39) |
missense |
probably benign |
0.39 |
R1710:Tmem132e
|
UTSW |
11 |
82,334,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R1913:Tmem132e
|
UTSW |
11 |
82,334,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R1951:Tmem132e
|
UTSW |
11 |
82,335,908 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2018:Tmem132e
|
UTSW |
11 |
82,335,989 (GRCm39) |
missense |
probably benign |
0.26 |
R2051:Tmem132e
|
UTSW |
11 |
82,331,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R2076:Tmem132e
|
UTSW |
11 |
82,325,894 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2100:Tmem132e
|
UTSW |
11 |
82,335,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R2325:Tmem132e
|
UTSW |
11 |
82,325,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R2924:Tmem132e
|
UTSW |
11 |
82,335,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R3437:Tmem132e
|
UTSW |
11 |
82,335,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R4594:Tmem132e
|
UTSW |
11 |
82,325,894 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4704:Tmem132e
|
UTSW |
11 |
82,334,357 (GRCm39) |
missense |
probably damaging |
0.97 |
R4754:Tmem132e
|
UTSW |
11 |
82,335,677 (GRCm39) |
nonsense |
probably null |
|
R4764:Tmem132e
|
UTSW |
11 |
82,325,338 (GRCm39) |
missense |
probably damaging |
0.99 |
R5245:Tmem132e
|
UTSW |
11 |
82,333,464 (GRCm39) |
missense |
probably damaging |
0.96 |
R5720:Tmem132e
|
UTSW |
11 |
82,333,276 (GRCm39) |
splice site |
probably null |
|
R5793:Tmem132e
|
UTSW |
11 |
82,335,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R5984:Tmem132e
|
UTSW |
11 |
82,335,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R6980:Tmem132e
|
UTSW |
11 |
82,329,212 (GRCm39) |
critical splice donor site |
probably null |
|
R7052:Tmem132e
|
UTSW |
11 |
82,328,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R7637:Tmem132e
|
UTSW |
11 |
82,325,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R7918:Tmem132e
|
UTSW |
11 |
82,336,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R8262:Tmem132e
|
UTSW |
11 |
82,325,666 (GRCm39) |
missense |
probably benign |
0.33 |
R8772:Tmem132e
|
UTSW |
11 |
82,325,137 (GRCm39) |
missense |
probably damaging |
0.99 |
R9248:Tmem132e
|
UTSW |
11 |
82,335,308 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tmem132e
|
UTSW |
11 |
82,335,930 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Tmem132e
|
UTSW |
11 |
82,326,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGTCTCAGCTAGCACCTAG -3'
(R):5'- GAGTAGTAGCCAGCACACTCTTG -3'
Sequencing Primer
(F):5'- GCACCTAGCATTTCCAGTGTAAGG -3'
(R):5'- GCACACTCTTGCGCTTGG -3'
|
Posted On |
2015-02-18 |