Incidental Mutation 'R3431:Tmem232'
ID |
268135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem232
|
Ensembl Gene |
ENSMUSG00000045036 |
Gene Name |
transmembrane protein 232 |
Synonyms |
LOC381107, E130009J12Rik |
MMRRC Submission |
040649-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R3431 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
65562994-65847777 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 65572297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062161]
[ENSMUST00000086722]
|
AlphaFold |
Q5K6N0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000062161
|
SMART Domains |
Protein: ENSMUSP00000055652 Gene: ENSMUSG00000045036
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
|
SMART Domains |
Protein: ENSMUSP00000083927 Gene: ENSMUSG00000045036
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
67 |
N/A |
INTRINSIC |
coiled coil region
|
598 |
634 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
A |
G |
5: 35,746,560 (GRCm39) |
H140R |
possibly damaging |
Het |
Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
Apob |
T |
G |
12: 8,060,778 (GRCm39) |
F3054V |
probably damaging |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Calcb |
A |
T |
7: 114,319,064 (GRCm39) |
R30W |
probably damaging |
Het |
Cbl |
T |
C |
9: 44,062,743 (GRCm39) |
*914W |
probably null |
Het |
Chd4 |
A |
G |
6: 125,097,523 (GRCm39) |
|
probably benign |
Het |
Clec4a2 |
A |
T |
6: 123,116,370 (GRCm39) |
|
probably null |
Het |
Crb2 |
T |
A |
2: 37,682,229 (GRCm39) |
V870E |
probably benign |
Het |
Cyp2c39 |
A |
G |
19: 39,525,306 (GRCm39) |
E203G |
probably damaging |
Het |
Dhrs7 |
A |
T |
12: 72,711,501 (GRCm39) |
L12Q |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,295,413 (GRCm39) |
Y1382C |
probably benign |
Het |
Efs |
C |
T |
14: 55,157,681 (GRCm39) |
R117Q |
probably damaging |
Het |
Evl |
T |
C |
12: 108,614,567 (GRCm39) |
|
probably benign |
Het |
Fbxo16 |
T |
C |
14: 65,531,233 (GRCm39) |
F46L |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,822,354 (GRCm39) |
E6029G |
possibly damaging |
Het |
Gm20775 |
A |
T |
Y: 10,641,956 (GRCm39) |
|
noncoding transcript |
Het |
Gm4924 |
T |
A |
10: 82,214,864 (GRCm39) |
Y887* |
probably null |
Het |
H60c |
G |
T |
10: 3,210,382 (GRCm39) |
R56S |
possibly damaging |
Het |
Hbq1a |
T |
G |
11: 32,250,715 (GRCm39) |
S133A |
probably benign |
Het |
Hhipl1 |
A |
G |
12: 108,277,948 (GRCm39) |
E92G |
probably damaging |
Het |
Knl1 |
A |
T |
2: 118,892,843 (GRCm39) |
E46D |
probably damaging |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mmp21 |
T |
C |
7: 133,280,479 (GRCm39) |
T164A |
probably benign |
Het |
Mthfd2 |
T |
C |
6: 83,288,330 (GRCm39) |
R142G |
probably benign |
Het |
Mup4 |
T |
G |
4: 59,959,192 (GRCm39) |
|
probably null |
Het |
Npas3 |
A |
T |
12: 54,115,832 (GRCm39) |
Q900L |
probably damaging |
Het |
Nr1h3 |
T |
C |
2: 91,022,205 (GRCm39) |
D141G |
probably damaging |
Het |
Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
Rttn |
A |
G |
18: 89,113,695 (GRCm39) |
T1705A |
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,486,876 (GRCm39) |
V3834E |
probably damaging |
Het |
Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
Tbc1d19 |
T |
C |
5: 54,005,548 (GRCm39) |
|
probably benign |
Het |
Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
Tulp4 |
C |
A |
17: 6,257,239 (GRCm39) |
S311R |
probably benign |
Het |
Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
Usp34 |
T |
C |
11: 23,320,466 (GRCm39) |
I917T |
possibly 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 |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGGCTGTACAATGATATATGCAC -3'
(R):5'- GTAGAGTTTGCATCTGCCCAC -3'
Sequencing Primer
(F):5'- TAGGCTATGTATTTGAAGGAGAGTAG -3'
(R):5'- GCACATCAGTAGTCTATCAGA -3'
|
Posted On |
2015-02-18 |