Incidental Mutation 'R5720:Tmem132e'
| ID |
451417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132e
|
| Ensembl Gene |
ENSMUSG00000020701 |
| Gene Name |
transmembrane protein 132E |
| Synonyms |
LOC270893 |
| MMRRC Submission |
043188-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.577)
|
| Stock # |
R5720 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82279726-82337158 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 82333276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054245]
[ENSMUST00000092852]
|
| AlphaFold |
Q6IEE6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054245
|
| SMART Domains |
Protein: ENSMUSP00000052484
Gene: ENSMUSG00000020701
| 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 null
Transcript: ENSMUST00000092852
|
| SMART Domains |
Protein: ENSMUSP00000090528
Gene: ENSMUSG00000020701
| 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: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
4: 140,308,930 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,228,802 (GRCm39) |
T1125A |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,233,171 (GRCm39) |
N1165K |
probably benign |
Het |
| Ctf1 |
A |
T |
7: 127,316,174 (GRCm39) |
|
probably null |
Het |
| Defb26 |
T |
C |
2: 152,350,122 (GRCm39) |
N53D |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,907,825 (GRCm39) |
T787A |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,552,979 (GRCm39) |
L96P |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gpr65 |
A |
T |
12: 98,241,361 (GRCm39) |
S5C |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Itga8 |
G |
A |
2: 12,115,898 (GRCm39) |
S76L |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,205,931 (GRCm39) |
F1810Y |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,306,038 (GRCm39) |
L126P |
probably damaging |
Het |
| Or4a77 |
T |
C |
2: 89,487,299 (GRCm39) |
Y162C |
probably benign |
Het |
| Primpol |
A |
G |
8: 47,034,677 (GRCm39) |
V417A |
probably damaging |
Het |
| Pus1 |
C |
T |
5: 110,925,584 (GRCm39) |
E79K |
probably damaging |
Het |
| Rspo2 |
C |
T |
15: 43,033,210 (GRCm39) |
C4Y |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 104,004,563 (GRCm39) |
D23G |
probably benign |
Het |
| Serpind1 |
A |
T |
16: 17,157,696 (GRCm39) |
R297S |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc17a6 |
C |
T |
7: 51,275,145 (GRCm39) |
P68L |
probably damaging |
Het |
| Slc6a5 |
C |
T |
7: 49,606,264 (GRCm39) |
P724L |
possibly damaging |
Het |
| Spaca7 |
A |
G |
8: 12,649,004 (GRCm39) |
E166G |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,021,993 (GRCm39) |
S345P |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 76,014,441 (GRCm39) |
D3211N |
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,261,964 (GRCm39) |
V44A |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,013,587 (GRCm39) |
S536P |
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 |
|
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'- GAAGACATCTCTCCAGGCAG -3'
(R):5'- CATGAAGTCACTAACCAGGTCAG -3'
Sequencing Primer
(F):5'- ACATCTCTCCAGGCAGATGCTG -3'
(R):5'- GTCACTAACCAGGTCAGTGACTTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation