Incidental Mutation 'IGL02972:Tmem232'
ID |
365868 |
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: 0.083)
|
Stock # |
IGL02972
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
65562994-65847777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65783668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 233
(H233L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062161]
[ENSMUST00000086722]
|
AlphaFold |
Q5K6N0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062161
AA Change: H233L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000055652 Gene: ENSMUSG00000045036 AA Change: H233L
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 benign
Transcript: ENSMUST00000086722
AA Change: H233L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000083927 Gene: ENSMUSG00000045036 AA Change: H233L
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410137M14Rik |
T |
A |
17: 37,289,412 (GRCm39) |
I105F |
possibly damaging |
Het |
Bmpr1b |
C |
T |
3: 141,576,519 (GRCm39) |
D105N |
probably benign |
Het |
Ces2e |
A |
T |
8: 105,653,693 (GRCm39) |
S44C |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,855,174 (GRCm39) |
N2134K |
probably benign |
Het |
Chst15 |
T |
C |
7: 131,870,902 (GRCm39) |
D211G |
probably damaging |
Het |
Dpp4 |
T |
C |
2: 62,182,569 (GRCm39) |
S571G |
probably damaging |
Het |
Gna11 |
T |
C |
10: 81,369,225 (GRCm39) |
I113V |
probably benign |
Het |
Grm3 |
T |
C |
5: 9,562,410 (GRCm39) |
Y480C |
probably damaging |
Het |
Mccc1 |
C |
T |
3: 36,039,238 (GRCm39) |
V252I |
possibly damaging |
Het |
Nol12 |
A |
G |
15: 78,824,799 (GRCm39) |
T209A |
probably damaging |
Het |
Or2y14 |
G |
A |
11: 49,404,918 (GRCm39) |
G151D |
probably damaging |
Het |
Or52a33 |
A |
G |
7: 103,289,101 (GRCm39) |
M82T |
probably damaging |
Het |
Or7e168 |
T |
C |
9: 19,720,238 (GRCm39) |
F208S |
probably damaging |
Het |
P3h1 |
C |
A |
4: 119,105,157 (GRCm39) |
Q712K |
possibly damaging |
Het |
Per2 |
T |
A |
1: 91,351,703 (GRCm39) |
E934D |
possibly damaging |
Het |
Pfkl |
T |
C |
10: 77,824,108 (GRCm39) |
D760G |
probably benign |
Het |
Piezo2 |
C |
A |
18: 63,197,856 (GRCm39) |
|
probably benign |
Het |
Pkd1l1 |
C |
T |
11: 8,813,908 (GRCm39) |
R1481Q |
probably damaging |
Het |
Plpp3 |
T |
C |
4: 105,065,989 (GRCm39) |
V189A |
possibly damaging |
Het |
Pnpla1 |
A |
G |
17: 29,105,921 (GRCm39) |
E592G |
probably null |
Het |
Prdm2 |
A |
T |
4: 142,858,736 (GRCm39) |
M1518K |
probably benign |
Het |
Rhbdl3 |
G |
A |
11: 80,222,742 (GRCm39) |
|
probably benign |
Het |
Rnf145 |
C |
T |
11: 44,454,865 (GRCm39) |
S582F |
probably benign |
Het |
Rsf1 |
A |
G |
7: 97,310,533 (GRCm39) |
D421G |
probably benign |
Het |
Serac1 |
A |
C |
17: 6,121,039 (GRCm39) |
L85* |
probably null |
Het |
Slc43a1 |
T |
G |
2: 84,690,462 (GRCm39) |
V460G |
probably damaging |
Het |
Slc7a6 |
G |
A |
8: 106,906,059 (GRCm39) |
C97Y |
probably damaging |
Het |
Slco5a1 |
A |
T |
1: 13,060,379 (GRCm39) |
L114* |
probably null |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Taok1 |
A |
G |
11: 77,450,584 (GRCm39) |
V396A |
probably benign |
Het |
Tmprss11c |
C |
T |
5: 86,385,692 (GRCm39) |
S247N |
possibly damaging |
Het |
Tnc |
C |
T |
4: 63,894,715 (GRCm39) |
S1557N |
probably benign |
Het |
Txlng |
A |
G |
X: 161,590,551 (GRCm39) |
M94T |
probably damaging |
Het |
Ube2b |
A |
T |
11: 51,879,509 (GRCm39) |
I87K |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,042,196 (GRCm39) |
S133R |
probably damaging |
Het |
Ugt1a5 |
C |
T |
1: 88,094,144 (GRCm39) |
T124I |
probably benign |
Het |
Vamp1 |
G |
T |
6: 125,196,610 (GRCm39) |
R117L |
probably benign |
Het |
Vmn1r87 |
G |
T |
7: 12,866,256 (GRCm39) |
Y10* |
probably null |
Het |
Zan |
G |
A |
5: 137,461,948 (GRCm39) |
T1077I |
unknown |
Het |
Zc2hc1b |
C |
A |
10: 13,047,025 (GRCm39) |
V29F |
probably damaging |
Het |
Zfp597 |
T |
C |
16: 3,684,387 (GRCm39) |
D123G |
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 |
IGL03028:Tmem232
|
APN |
17 |
65,563,384 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03293:Tmem232
|
APN |
17 |
65,757,369 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-12-18 |