Incidental Mutation 'R0380:Tmem232'
| ID |
30951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem232
|
| Ensembl Gene |
ENSMUSG00000045036 |
| Gene Name |
transmembrane protein 232 |
| Synonyms |
LOC381107, E130009J12Rik |
| MMRRC Submission |
038586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R0380 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
65562994-65847777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65563443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 650
(L650Q)
|
| 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: L650Q
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000055652
Gene: ENSMUSG00000045036
AA Change: L650Q
| 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: L650Q
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000083927
Gene: ENSMUSG00000045036
AA Change: L650Q
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,538,500 (GRCm39) |
|
probably null |
Het |
| Abca14 |
A |
T |
7: 119,877,703 (GRCm39) |
I1073L |
probably benign |
Het |
| Adamts17 |
C |
T |
7: 66,799,792 (GRCm39) |
P1116L |
probably benign |
Het |
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,814,675 (GRCm39) |
I671T |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,773 (GRCm39) |
I233V |
probably benign |
Het |
| Ap1g1 |
A |
G |
8: 110,529,796 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,761,576 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
C |
T |
9: 32,157,773 (GRCm39) |
R129W |
probably damaging |
Het |
| Atp10b |
G |
T |
11: 43,116,424 (GRCm39) |
A924S |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,930,197 (GRCm39) |
|
probably null |
Het |
| Cckbr |
A |
G |
7: 105,084,198 (GRCm39) |
T311A |
probably benign |
Het |
| Cr2 |
C |
T |
1: 194,839,715 (GRCm39) |
G947R |
probably damaging |
Het |
| Cyp2g1 |
T |
A |
7: 26,513,720 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,857,810 (GRCm39) |
Y67H |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,715,996 (GRCm39) |
Y282* |
probably null |
Het |
| Epg5 |
T |
C |
18: 78,004,056 (GRCm39) |
L688P |
probably damaging |
Het |
| Esr2 |
T |
G |
12: 76,170,065 (GRCm39) |
E458A |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,463,160 (GRCm39) |
S1326P |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
| Gpr12 |
T |
A |
5: 146,520,146 (GRCm39) |
T259S |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,723,584 (GRCm39) |
C625S |
possibly damaging |
Het |
| H2-Q1 |
C |
T |
17: 35,542,054 (GRCm39) |
H209Y |
probably damaging |
Het |
| Hcfc2 |
C |
A |
10: 82,564,272 (GRCm39) |
|
probably benign |
Het |
| Itgal |
C |
A |
7: 126,909,923 (GRCm39) |
Y495* |
probably null |
Het |
| Kbtbd3 |
T |
A |
9: 4,330,545 (GRCm39) |
Y306* |
probably null |
Het |
| Kcns2 |
T |
C |
15: 34,839,318 (GRCm39) |
F227S |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,983,753 (GRCm39) |
|
probably null |
Het |
| Maml2 |
C |
T |
9: 13,532,396 (GRCm39) |
R537* |
probably null |
Het |
| Muc4 |
G |
A |
16: 32,574,333 (GRCm39) |
A928T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,594,740 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,122,214 (GRCm39) |
M605K |
probably damaging |
Het |
| Or2c1 |
A |
T |
16: 3,656,849 (GRCm39) |
D4V |
probably benign |
Het |
| Pcdhb3 |
T |
G |
18: 37,435,210 (GRCm39) |
I392S |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,101,371 (GRCm39) |
T2292A |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 179,923,512 (GRCm39) |
M108K |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,707,130 (GRCm39) |
T259A |
probably benign |
Het |
| Recql |
C |
A |
6: 142,315,156 (GRCm39) |
R243L |
probably damaging |
Het |
| Rsf1 |
TGGCG |
TGGCGACGGCGGCG |
7: 97,229,112 (GRCm39) |
|
probably benign |
Het |
| Serpinb12 |
T |
C |
1: 106,878,551 (GRCm39) |
|
probably null |
Het |
| Slc16a14 |
T |
A |
1: 84,907,251 (GRCm39) |
I8F |
possibly damaging |
Het |
| Spef1 |
G |
T |
2: 131,014,332 (GRCm39) |
|
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,166 (GRCm39) |
L300P |
probably damaging |
Het |
| Tas2r117 |
A |
T |
6: 132,780,551 (GRCm39) |
R230* |
probably null |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,118,314 (GRCm39) |
L38Q |
probably damaging |
Het |
| Tmem171 |
G |
T |
13: 98,828,535 (GRCm39) |
T205K |
possibly damaging |
Het |
| Tpr |
T |
A |
1: 150,288,698 (GRCm39) |
D518E |
probably benign |
Het |
| Tsen54 |
T |
C |
11: 115,713,423 (GRCm39) |
V442A |
probably damaging |
Het |
| Tshz3 |
A |
T |
7: 36,470,725 (GRCm39) |
I905F |
probably damaging |
Het |
| Vmn1r66 |
C |
T |
7: 10,008,670 (GRCm39) |
C121Y |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,096,832 (GRCm39) |
Q322R |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,597,208 (GRCm39) |
|
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 |
|
IGL03293:Tmem232
|
APN |
17 |
65,757,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTGAAAGAGCGATCCTCGAAC -3'
(R):5'- TAAGAAACTTGGACGCCCCTGC -3'
Sequencing Primer
(F):5'- GTGTAGCTGGAAAAACTACTTCACC -3'
(R):5'- GCCCCTGCAAACGGTAAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation