Incidental Mutation 'IGL01576:Tmem132e'
| ID |
91263 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem132e
|
| Ensembl Gene |
ENSMUSG00000020701 |
| Gene Name |
transmembrane protein 132E |
| Synonyms |
LOC270893 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.517)
|
| Stock # |
IGL01576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
82279726-82337158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82329200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 493
(D493G)
|
| 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: D493G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052484
Gene: ENSMUSG00000020701
AA Change: D493G
| 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: D401G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090528
Gene: ENSMUSG00000020701
AA Change: D401G
| 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: ENSMUST00000132477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202598
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,531,293 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,816,121 (GRCm39) |
E541G |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,962 (GRCm39) |
D571V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,984,365 (GRCm39) |
N4459S |
possibly damaging |
Het |
| Brsk2 |
T |
C |
7: 141,535,292 (GRCm39) |
I38T |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,258,602 (GRCm39) |
R563* |
probably null |
Het |
| Car7 |
T |
A |
8: 105,276,180 (GRCm39) |
|
probably null |
Het |
| Chml |
T |
C |
1: 175,515,271 (GRCm39) |
T217A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,307,813 (GRCm39) |
N3042K |
probably damaging |
Het |
| Efcab2 |
T |
G |
1: 178,264,957 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,208,174 (GRCm39) |
E397G |
probably damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,094 (GRCm39) |
T443A |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,227 (GRCm39) |
E128G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,096 (GRCm39) |
D663G |
probably damaging |
Het |
| Fndc10 |
T |
A |
4: 155,779,433 (GRCm39) |
V159D |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,633,164 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Gpr63 |
G |
T |
4: 25,008,445 (GRCm39) |
D390Y |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,876,409 (GRCm39) |
|
probably null |
Het |
| Igdcc3 |
A |
G |
9: 65,085,152 (GRCm39) |
T199A |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,739,047 (GRCm39) |
V285A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,062,101 (GRCm39) |
S443G |
possibly damaging |
Het |
| Med22 |
C |
T |
2: 26,799,004 (GRCm39) |
|
probably null |
Het |
| Or7c70 |
G |
T |
10: 78,683,207 (GRCm39) |
L181I |
possibly damaging |
Het |
| Pals2 |
G |
A |
6: 50,140,472 (GRCm39) |
R164Q |
probably benign |
Het |
| Pcnt |
T |
G |
10: 76,204,656 (GRCm39) |
D2583A |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,977,054 (GRCm39) |
R598Q |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,906,575 (GRCm39) |
V646A |
probably damaging |
Het |
| Podxl |
A |
T |
6: 31,501,319 (GRCm39) |
V412D |
probably damaging |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,123 (GRCm39) |
S129R |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,346,526 (GRCm39) |
I349V |
probably benign |
Het |
| Rorb |
C |
T |
19: 18,934,698 (GRCm39) |
G224D |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,757 (GRCm39) |
I508F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,628,079 (GRCm39) |
V619M |
probably damaging |
Het |
| Tgm7 |
A |
T |
2: 120,931,514 (GRCm39) |
D216E |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,583,598 (GRCm39) |
C749S |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,519 (GRCm39) |
N284D |
possibly damaging |
Het |
|
| Other mutations in Tmem132e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation