Incidental Mutation 'R5245:Tmem132e'
| ID |
401118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132e
|
| Ensembl Gene |
ENSMUSG00000020701 |
| Gene Name |
transmembrane protein 132E |
| Synonyms |
LOC270893 |
| MMRRC Submission |
042816-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.517)
|
| Stock # |
R5245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82279726-82337158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82333464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 624
(V624A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054245]
[ENSMUST00000092852]
|
| AlphaFold |
Q6IEE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054245
AA Change: V624A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000052484
Gene: ENSMUSG00000020701
AA Change: V624A
| 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 |
possibly damaging
Transcript: ENSMUST00000092852
AA Change: V532A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090528
Gene: ENSMUSG00000020701
AA Change: V532A
| 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 |
0.1691 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
T |
A |
19: 21,661,624 (GRCm39) |
Y270* |
probably null |
Het |
| Akap9 |
A |
T |
5: 4,026,209 (GRCm39) |
Q59L |
probably damaging |
Het |
| Aloxe3 |
A |
T |
11: 69,020,502 (GRCm39) |
Q182L |
probably benign |
Het |
| Arhgef5 |
G |
T |
6: 43,242,614 (GRCm39) |
|
probably benign |
Het |
| Bcas3 |
T |
A |
11: 85,449,912 (GRCm39) |
N663K |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,921,770 (GRCm39) |
H51R |
possibly damaging |
Het |
| Cntfr |
A |
T |
4: 41,670,879 (GRCm39) |
W95R |
possibly damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,714,657 (GRCm39) |
T275A |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,473,873 (GRCm39) |
R227G |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,513,304 (GRCm39) |
W160* |
probably null |
Het |
| Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,823,505 (GRCm39) |
M6413V |
probably benign |
Het |
| Gm14401 |
C |
T |
2: 176,778,471 (GRCm39) |
P186S |
probably damaging |
Het |
| Hrc |
G |
A |
7: 44,984,855 (GRCm39) |
G2D |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,903,284 (GRCm39) |
V142A |
possibly damaging |
Het |
| Lama3 |
G |
A |
18: 12,552,950 (GRCm39) |
C454Y |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,680,292 (GRCm39) |
T2068A |
probably damaging |
Het |
| Mab21l2 |
T |
C |
3: 86,454,799 (GRCm39) |
E67G |
possibly damaging |
Het |
| Map3k5 |
G |
A |
10: 20,016,437 (GRCm39) |
V1343I |
probably benign |
Het |
| Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
| Mmp16 |
A |
G |
4: 18,054,596 (GRCm39) |
|
probably benign |
Het |
| Nat3 |
C |
T |
8: 68,000,832 (GRCm39) |
T237I |
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,828,179 (GRCm39) |
*484R |
probably null |
Het |
| Nsmf |
A |
G |
2: 24,946,119 (GRCm39) |
E202G |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,496,443 (GRCm39) |
V358A |
probably benign |
Het |
| Or2v2 |
T |
A |
11: 49,004,116 (GRCm39) |
I146F |
probably benign |
Het |
| Or4b1d |
T |
A |
2: 89,968,606 (GRCm39) |
K292N |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,891,910 (GRCm39) |
E466G |
probably damaging |
Het |
| Pim3 |
A |
G |
15: 88,747,404 (GRCm39) |
E90G |
possibly damaging |
Het |
| Recql5 |
T |
C |
11: 115,784,385 (GRCm39) |
E905G |
probably damaging |
Het |
| Rnf31 |
T |
G |
14: 55,839,163 (GRCm39) |
L925R |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,589,511 (GRCm39) |
V679A |
probably damaging |
Het |
| Setdb2 |
T |
A |
14: 59,663,943 (GRCm39) |
E68V |
probably null |
Het |
| Shtn1 |
T |
A |
19: 59,020,652 (GRCm39) |
N190I |
possibly damaging |
Het |
| Slc25a25 |
G |
A |
2: 32,311,340 (GRCm39) |
Q14* |
probably null |
Het |
| Snrnp27 |
A |
G |
6: 86,659,941 (GRCm39) |
S18P |
unknown |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
T |
C |
5: 120,021,230 (GRCm39) |
V412A |
possibly damaging |
Het |
| Tcea3 |
A |
G |
4: 135,991,813 (GRCm39) |
T166A |
probably benign |
Het |
| Tdrp |
A |
T |
8: 14,024,479 (GRCm39) |
|
probably benign |
Het |
| Tent5a |
G |
T |
9: 85,208,401 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,513,066 (GRCm39) |
D72G |
probably damaging |
Het |
| Trim80 |
C |
A |
11: 115,332,398 (GRCm39) |
H197N |
probably damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,156 (GRCm39) |
C195* |
probably null |
Het |
| Zfp335 |
A |
G |
2: 164,736,678 (GRCm39) |
S986P |
probably benign |
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 |
|
R3436:Tmem132e
|
UTSW |
11 |
82,335,156 (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 |
|
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'- ATTTGGCATTCCCCAGGTCAG -3'
(R):5'- AATGTGTTGGTCCTGGGTACAC -3'
Sequencing Primer
(F):5'- ATTCCCCAGGTCAGCTCGAG -3'
(R):5'- TGGTCCTGGGTACACCTTGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation