Incidental Mutation 'R5793:Tmem132e'
| ID |
447086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132e
|
| Ensembl Gene |
ENSMUSG00000020701 |
| Gene Name |
transmembrane protein 132E |
| Synonyms |
LOC270893 |
| MMRRC Submission |
043208-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.577)
|
| Stock # |
R5793 (G1)
|
| Quality Score |
198 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82279726-82337158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82335684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 922
(I922N)
|
| 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: I922N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052484
Gene: ENSMUSG00000020701
AA Change: I922N
| 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: I830N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090528
Gene: ENSMUSG00000020701
AA Change: I830N
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12 |
C |
A |
11: 70,133,879 (GRCm39) |
R522L |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,279,753 (GRCm39) |
D271E |
probably benign |
Het |
| Arg1 |
C |
T |
10: 24,796,540 (GRCm39) |
V96M |
probably benign |
Het |
| Axin1 |
T |
C |
17: 26,362,282 (GRCm39) |
S209P |
probably damaging |
Het |
| B4galnt3 |
A |
G |
6: 120,185,865 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
T |
A |
10: 60,141,907 (GRCm39) |
D3058V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,728,384 (GRCm39) |
T794A |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,450,180 (GRCm39) |
T1891I |
possibly damaging |
Het |
| Cspg4b |
G |
T |
13: 113,457,556 (GRCm39) |
V1201L |
possibly damaging |
Het |
| Dzank1 |
T |
C |
2: 144,348,144 (GRCm39) |
I207M |
probably benign |
Het |
| Fkbp9 |
G |
A |
6: 56,850,498 (GRCm39) |
|
probably null |
Het |
| Gm4781 |
T |
A |
10: 100,232,529 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,255,094 (GRCm39) |
L33F |
probably benign |
Het |
| Hsd11b1 |
A |
C |
1: 192,924,492 (GRCm39) |
F27V |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,434,292 (GRCm39) |
I482N |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
T |
C |
15: 75,093,493 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,653,077 (GRCm39) |
Q1420R |
probably benign |
Het |
| Ncam2 |
G |
A |
16: 81,372,991 (GRCm39) |
V569I |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,395,819 (GRCm39) |
V1140A |
probably benign |
Het |
| Ogdhl |
T |
A |
14: 32,054,730 (GRCm39) |
L226Q |
probably damaging |
Het |
| Or51a24 |
T |
C |
7: 103,734,237 (GRCm39) |
T17A |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,536,547 (GRCm39) |
M1V |
probably null |
Het |
| Padi2 |
T |
C |
4: 140,660,501 (GRCm39) |
L327P |
probably benign |
Het |
| Palb2 |
T |
C |
7: 121,726,860 (GRCm39) |
N337D |
probably benign |
Het |
| Pard3b |
A |
T |
1: 61,807,132 (GRCm39) |
H49L |
probably damaging |
Het |
| Pigz |
T |
C |
16: 31,764,285 (GRCm39) |
S448P |
probably benign |
Het |
| Ppfia4 |
A |
G |
1: 134,239,844 (GRCm39) |
V911A |
probably damaging |
Het |
| Prr5 |
T |
A |
15: 84,656,223 (GRCm39) |
M408K |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,593,205 (GRCm39) |
Y1604C |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,987,400 (GRCm39) |
S886P |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,759,778 (GRCm39) |
I408V |
possibly damaging |
Het |
| Sema7a |
A |
T |
9: 57,867,540 (GRCm39) |
R431W |
probably damaging |
Het |
| Slc22a30 |
T |
A |
19: 8,314,183 (GRCm39) |
Y501F |
possibly damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,917,345 (GRCm39) |
V323D |
probably damaging |
Het |
| Snap47 |
C |
T |
11: 59,329,018 (GRCm39) |
E95K |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,998,069 (GRCm39) |
I1209F |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,708,333 (GRCm39) |
M297K |
probably benign |
Het |
| Tmx2 |
T |
C |
2: 84,506,501 (GRCm39) |
R64G |
probably damaging |
Het |
| Trim68 |
A |
T |
7: 102,333,560 (GRCm39) |
S41T |
possibly damaging |
Het |
| Tsga10 |
A |
T |
1: 37,874,540 (GRCm39) |
M115K |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,221,754 (GRCm39) |
C822Y |
probably damaging |
Het |
| Wdr72 |
C |
T |
9: 74,117,625 (GRCm39) |
A779V |
probably benign |
Het |
| Zfp580 |
A |
T |
7: 5,055,891 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
G |
A |
7: 7,207,283 (GRCm39) |
T136I |
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 |
|
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 |
|
|
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'- ACCCACAGAGGACTACTTGC -3'
(R):5'- CCCTTTTGCGCTTAGAAGTGG -3'
Sequencing Primer
(F):5'- ACAGAGGACTACTTGCCGCTG -3'
(R):5'- CTTAGAAGTGGGCGAGCTAGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation