Incidental Mutation 'IGL03293:Tmem232'
ID |
415970 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem232
|
Ensembl Gene |
ENSMUSG00000045036 |
Gene Name |
transmembrane protein 232 |
Synonyms |
LOC381107, E130009J12Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL03293
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
65562994-65847777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65757369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 275
(S275P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062161]
[ENSMUST00000086722]
|
AlphaFold |
Q5K6N0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062161
AA Change: S275P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055652 Gene: ENSMUSG00000045036 AA Change: S275P
Domain | Start | End | E-Value | Type |
Pfam:TMEM232
|
40 |
488 |
5.3e-235 |
PFAM |
coiled coil region
|
598 |
634 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086722
AA Change: S275P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083927 Gene: ENSMUSG00000045036 AA Change: S275P
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
67 |
N/A |
INTRINSIC |
coiled coil region
|
598 |
634 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,615,375 (GRCm39) |
|
probably null |
Het |
Akr1c14 |
C |
T |
13: 4,129,130 (GRCm39) |
R45* |
probably null |
Het |
Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
Ccdc66 |
T |
A |
14: 27,212,628 (GRCm39) |
N565I |
probably damaging |
Het |
Cerkl |
G |
T |
2: 79,172,719 (GRCm39) |
A318E |
probably damaging |
Het |
Clec4n |
A |
T |
6: 123,209,105 (GRCm39) |
T57S |
probably benign |
Het |
Cluh |
A |
G |
11: 74,556,578 (GRCm39) |
E921G |
probably benign |
Het |
Cnbd1 |
C |
T |
4: 18,860,565 (GRCm39) |
E394K |
possibly damaging |
Het |
Dmgdh |
G |
T |
13: 93,843,209 (GRCm39) |
M348I |
probably benign |
Het |
Dnajc13 |
G |
A |
9: 104,051,625 (GRCm39) |
S1744L |
possibly damaging |
Het |
Dspp |
A |
T |
5: 104,325,427 (GRCm39) |
S597C |
unknown |
Het |
Dync1h1 |
A |
T |
12: 110,595,168 (GRCm39) |
N1360I |
probably benign |
Het |
Eepd1 |
A |
G |
9: 25,514,708 (GRCm39) |
H505R |
possibly damaging |
Het |
Entr1 |
A |
T |
2: 26,277,688 (GRCm39) |
|
probably benign |
Het |
Gcnt7 |
T |
C |
2: 172,296,303 (GRCm39) |
T174A |
possibly damaging |
Het |
Gnb1 |
T |
C |
4: 155,625,004 (GRCm39) |
|
probably benign |
Het |
Gpam |
A |
G |
19: 55,059,448 (GRCm39) |
S800P |
probably benign |
Het |
Gsr |
T |
C |
8: 34,185,024 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,804,878 (GRCm39) |
K2302R |
probably benign |
Het |
Hipk1 |
C |
A |
3: 103,684,575 (GRCm39) |
A347S |
possibly damaging |
Het |
Iqgap2 |
T |
C |
13: 95,867,942 (GRCm39) |
N222S |
probably damaging |
Het |
Marco |
T |
A |
1: 120,422,524 (GRCm39) |
M46L |
probably benign |
Het |
Morc2b |
A |
T |
17: 33,357,337 (GRCm39) |
V145D |
probably damaging |
Het |
Mprip |
C |
A |
11: 59,586,989 (GRCm39) |
P54Q |
probably damaging |
Het |
Ndufv2 |
A |
T |
17: 66,390,444 (GRCm39) |
C175* |
probably null |
Het |
Or13c25 |
A |
G |
4: 52,910,835 (GRCm39) |
*320Q |
probably null |
Het |
Or4p20 |
T |
C |
2: 88,253,571 (GRCm39) |
D266G |
probably damaging |
Het |
Orc3 |
A |
C |
4: 34,595,210 (GRCm39) |
I195S |
probably damaging |
Het |
Otos |
C |
A |
1: 92,572,135 (GRCm39) |
E64* |
probably null |
Het |
Plxna2 |
T |
C |
1: 194,487,253 (GRCm39) |
S1603P |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,005,527 (GRCm39) |
I1151N |
probably benign |
Het |
Scaper |
A |
G |
9: 55,782,107 (GRCm39) |
V283A |
probably benign |
Het |
Slc25a43 |
A |
G |
X: 36,039,252 (GRCm39) |
T270A |
probably benign |
Het |
Slc35a5 |
A |
G |
16: 44,964,144 (GRCm39) |
V78A |
probably damaging |
Het |
Smurf1 |
A |
T |
5: 144,818,609 (GRCm39) |
D636E |
probably benign |
Het |
Tchhl1 |
A |
T |
3: 93,377,582 (GRCm39) |
E95D |
probably damaging |
Het |
Tcp10a |
A |
G |
17: 7,593,891 (GRCm39) |
E72G |
possibly damaging |
Het |
Ugt1a5 |
T |
C |
1: 88,094,540 (GRCm39) |
F256S |
probably damaging |
Het |
Ulbp3 |
A |
G |
10: 3,075,699 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r5 |
A |
G |
3: 64,398,747 (GRCm39) |
V744A |
probably benign |
Het |
Vmn2r53 |
A |
T |
7: 12,332,349 (GRCm39) |
S433R |
probably benign |
Het |
Vmn2r9 |
A |
T |
5: 108,995,997 (GRCm39) |
I217N |
probably damaging |
Het |
Wdr83 |
G |
T |
8: 85,807,216 (GRCm39) |
A10E |
probably benign |
Het |
|
Other mutations in Tmem232 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00897:Tmem232
|
APN |
17 |
65,563,569 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL00954:Tmem232
|
APN |
17 |
65,807,148 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01530:Tmem232
|
APN |
17 |
65,563,543 (GRCm39) |
nonsense |
probably null |
|
IGL02881:Tmem232
|
APN |
17 |
65,757,365 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02969:Tmem232
|
APN |
17 |
65,563,558 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02972:Tmem232
|
APN |
17 |
65,783,668 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03028:Tmem232
|
APN |
17 |
65,563,384 (GRCm39) |
missense |
probably benign |
0.14 |
R0380:Tmem232
|
UTSW |
17 |
65,563,443 (GRCm39) |
missense |
probably benign |
0.23 |
R0432:Tmem232
|
UTSW |
17 |
65,563,498 (GRCm39) |
missense |
probably damaging |
0.99 |
R0524:Tmem232
|
UTSW |
17 |
65,792,937 (GRCm39) |
missense |
probably damaging |
0.98 |
R0548:Tmem232
|
UTSW |
17 |
65,689,615 (GRCm39) |
missense |
probably benign |
0.22 |
R1345:Tmem232
|
UTSW |
17 |
65,757,401 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1521:Tmem232
|
UTSW |
17 |
65,791,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R1954:Tmem232
|
UTSW |
17 |
65,791,482 (GRCm39) |
missense |
probably benign |
0.01 |
R1955:Tmem232
|
UTSW |
17 |
65,791,482 (GRCm39) |
missense |
probably benign |
0.01 |
R2012:Tmem232
|
UTSW |
17 |
65,807,167 (GRCm39) |
missense |
probably benign |
0.21 |
R2294:Tmem232
|
UTSW |
17 |
65,757,436 (GRCm39) |
missense |
probably benign |
0.00 |
R2369:Tmem232
|
UTSW |
17 |
65,709,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R2384:Tmem232
|
UTSW |
17 |
65,709,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R2894:Tmem232
|
UTSW |
17 |
65,757,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R3431:Tmem232
|
UTSW |
17 |
65,572,297 (GRCm39) |
splice site |
probably null |
|
R3788:Tmem232
|
UTSW |
17 |
65,689,628 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3789:Tmem232
|
UTSW |
17 |
65,689,520 (GRCm39) |
missense |
probably benign |
0.02 |
R3789:Tmem232
|
UTSW |
17 |
65,689,628 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4155:Tmem232
|
UTSW |
17 |
65,743,328 (GRCm39) |
missense |
probably damaging |
0.97 |
R4691:Tmem232
|
UTSW |
17 |
65,572,237 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4838:Tmem232
|
UTSW |
17 |
65,737,883 (GRCm39) |
missense |
probably benign |
0.04 |
R5340:Tmem232
|
UTSW |
17 |
65,709,993 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5619:Tmem232
|
UTSW |
17 |
65,793,506 (GRCm39) |
missense |
probably benign |
0.06 |
R6176:Tmem232
|
UTSW |
17 |
65,792,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R6192:Tmem232
|
UTSW |
17 |
65,737,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R6223:Tmem232
|
UTSW |
17 |
65,807,191 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R6256:Tmem232
|
UTSW |
17 |
65,785,397 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6782:Tmem232
|
UTSW |
17 |
65,807,119 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6856:Tmem232
|
UTSW |
17 |
65,757,305 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7262:Tmem232
|
UTSW |
17 |
65,807,112 (GRCm39) |
missense |
probably benign |
|
R7459:Tmem232
|
UTSW |
17 |
65,563,384 (GRCm39) |
missense |
probably benign |
0.14 |
R7699:Tmem232
|
UTSW |
17 |
65,572,213 (GRCm39) |
missense |
probably damaging |
0.97 |
R7700:Tmem232
|
UTSW |
17 |
65,572,213 (GRCm39) |
missense |
probably damaging |
0.97 |
R8284:Tmem232
|
UTSW |
17 |
65,709,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R8523:Tmem232
|
UTSW |
17 |
65,785,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R8821:Tmem232
|
UTSW |
17 |
65,743,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Tmem232
|
UTSW |
17 |
65,737,778 (GRCm39) |
missense |
probably benign |
0.30 |
R9420:Tmem232
|
UTSW |
17 |
65,792,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R9617:Tmem232
|
UTSW |
17 |
65,807,180 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |