Incidental Mutation 'IGL01530:Tmem232'
| ID |
89712 |
| 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 # |
IGL01530
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
65562994-65847777 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 65563543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 617
(Q617*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062161]
[ENSMUST00000086722]
|
| AlphaFold |
Q5K6N0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062161
AA Change: Q617*
|
| SMART Domains |
Protein: ENSMUSP00000055652
Gene: ENSMUSG00000045036
AA Change: Q617*
| 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 null
Transcript: ENSMUST00000086722
AA Change: Q617*
|
| SMART Domains |
Protein: ENSMUSP00000083927
Gene: ENSMUSG00000045036
AA Change: Q617*
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
A |
14: 54,881,443 (GRCm39) |
R1117W |
probably damaging |
Het |
| Acox2 |
T |
G |
14: 8,246,363 (GRCm38) |
Y476S |
probably damaging |
Het |
| Arl6ip5 |
G |
A |
6: 97,187,785 (GRCm39) |
D2N |
possibly damaging |
Het |
| Ces2h |
A |
G |
8: 105,741,116 (GRCm39) |
H36R |
probably benign |
Het |
| Cfap44 |
C |
A |
16: 44,269,530 (GRCm39) |
A1178E |
probably damaging |
Het |
| Clmn |
T |
A |
12: 104,758,115 (GRCm39) |
I134F |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,792,385 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
C |
T |
8: 15,953,195 (GRCm39) |
E3429K |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,308,094 (GRCm39) |
D1284G |
possibly damaging |
Het |
| Csmd3 |
C |
T |
15: 47,701,833 (GRCm39) |
G1750E |
possibly damaging |
Het |
| Csmd3 |
T |
G |
15: 47,533,013 (GRCm39) |
D2516A |
probably damaging |
Het |
| Depdc1a |
C |
T |
3: 159,229,560 (GRCm39) |
H631Y |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,174,213 (GRCm39) |
S2167T |
probably benign |
Het |
| Flii |
G |
A |
11: 60,611,008 (GRCm39) |
R474* |
probably null |
Het |
| Hmcn2 |
A |
C |
2: 31,244,276 (GRCm39) |
D687A |
possibly damaging |
Het |
| Hrh4 |
A |
G |
18: 13,149,004 (GRCm39) |
|
probably benign |
Het |
| Hsd3b5 |
G |
A |
3: 98,526,439 (GRCm39) |
R336C |
probably damaging |
Het |
| Igkv5-39 |
T |
A |
6: 69,877,459 (GRCm39) |
E79V |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,019,610 (GRCm39) |
|
probably null |
Het |
| Irak3 |
G |
A |
10: 119,978,699 (GRCm39) |
S492F |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,406,157 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,518,498 (GRCm39) |
I2394V |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,103,785 (GRCm39) |
A2002V |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,749,841 (GRCm39) |
E1170G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,711,938 (GRCm39) |
|
probably benign |
Het |
| Mpo |
G |
T |
11: 87,692,017 (GRCm39) |
M483I |
probably benign |
Het |
| Neu3 |
T |
C |
7: 99,462,953 (GRCm39) |
S257G |
probably benign |
Het |
| Nhsl3 |
G |
A |
4: 129,116,589 (GRCm39) |
|
probably null |
Het |
| Niban3 |
A |
T |
8: 72,056,561 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,923,733 (GRCm39) |
T1421A |
probably benign |
Het |
| Pbx1 |
T |
C |
1: 168,018,873 (GRCm39) |
N324S |
probably benign |
Het |
| Pcbp2 |
T |
C |
15: 102,392,601 (GRCm39) |
S5P |
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,715,640 (GRCm39) |
I511V |
probably benign |
Het |
| Pdzph1 |
C |
T |
17: 59,229,710 (GRCm39) |
D983N |
probably damaging |
Het |
| Phldb2 |
A |
C |
16: 45,623,092 (GRCm39) |
D651E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,629,643 (GRCm39) |
|
probably null |
Het |
| Plxnb1 |
A |
G |
9: 108,939,473 (GRCm39) |
D1406G |
probably benign |
Het |
| Rhebl1 |
T |
C |
15: 98,777,367 (GRCm39) |
D65G |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,683,989 (GRCm39) |
H249R |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,365,091 (GRCm39) |
T231A |
probably benign |
Het |
| Trim62 |
A |
G |
4: 128,778,252 (GRCm39) |
D97G |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,841,636 (GRCm39) |
T328A |
possibly damaging |
Het |
| Ugt2b5 |
C |
T |
5: 87,285,104 (GRCm39) |
V278I |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,240,099 (GRCm39) |
|
probably null |
Het |
| Vdac3-ps1 |
C |
T |
13: 18,206,091 (GRCm39) |
|
noncoding transcript |
Het |
| Wwc2 |
T |
A |
8: 48,316,974 (GRCm39) |
R706S |
unknown |
Het |
| Xpot |
A |
C |
10: 121,447,433 (GRCm39) |
I114S |
probably damaging |
Het |
| Zfp777 |
T |
A |
6: 48,020,918 (GRCm39) |
S279C |
probably damaging |
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 |
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation