Incidental Mutation 'R0524:Tmem232'
| ID |
48810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem232
|
| Ensembl Gene |
ENSMUSG00000045036 |
| Gene Name |
transmembrane protein 232 |
| Synonyms |
LOC381107, E130009J12Rik |
| MMRRC Submission |
038717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R0524 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
65562994-65847777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65792937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 87
(S87P)
|
| 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: S87P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000055652
Gene: ENSMUSG00000045036
AA Change: S87P
| 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: S87P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083927
Gene: ENSMUSG00000045036
AA Change: S87P
| 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 |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.4%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
1: 180,574,624 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,949,013 (GRCm39) |
E216G |
probably benign |
Het |
| Aoc3 |
C |
A |
11: 101,228,337 (GRCm39) |
P715T |
probably damaging |
Het |
| Bnipl |
T |
C |
3: 95,157,140 (GRCm39) |
D33G |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,308,903 (GRCm39) |
H1701R |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,531,082 (GRCm39) |
H756L |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,675,154 (GRCm39) |
W159R |
probably damaging |
Het |
| Ddx49 |
A |
T |
8: 70,749,574 (GRCm39) |
I252N |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,112,317 (GRCm39) |
T1290A |
possibly damaging |
Het |
| Fam111a |
T |
A |
19: 12,565,412 (GRCm39) |
I431K |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,334,133 (GRCm39) |
D1020E |
probably benign |
Het |
| Flii |
A |
G |
11: 60,610,887 (GRCm39) |
V514A |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,283,774 (GRCm39) |
D865G |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,256,902 (GRCm39) |
V157M |
probably damaging |
Het |
| Gsr |
G |
A |
8: 34,159,208 (GRCm39) |
|
probably null |
Het |
| H1f11-ps |
T |
A |
19: 47,158,933 (GRCm39) |
K214M |
unknown |
Het |
| Hps3 |
A |
T |
3: 20,066,940 (GRCm39) |
V542E |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,234,270 (GRCm39) |
I15T |
probably benign |
Het |
| Kif2b |
T |
C |
11: 91,466,550 (GRCm39) |
R578G |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,361,571 (GRCm39) |
R676G |
possibly damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,692,302 (GRCm39) |
F94S |
possibly damaging |
Het |
| Myo7b |
C |
T |
18: 32,146,477 (GRCm39) |
V103M |
possibly damaging |
Het |
| Nmt2 |
T |
A |
2: 3,306,474 (GRCm39) |
W69R |
probably benign |
Het |
| Nsd3 |
C |
A |
8: 26,190,605 (GRCm39) |
Q1130K |
possibly damaging |
Het |
| Olfml1 |
T |
C |
7: 107,189,384 (GRCm39) |
S150P |
probably damaging |
Het |
| Or2g1 |
A |
T |
17: 38,106,496 (GRCm39) |
K54* |
probably null |
Het |
| Or5b116 |
A |
G |
19: 13,423,228 (GRCm39) |
N284S |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,238,556 (GRCm39) |
W1310R |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,091 (GRCm39) |
Q408R |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,029,488 (GRCm39) |
I700V |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,859,460 (GRCm39) |
V16A |
probably damaging |
Het |
| Pnpla8 |
C |
T |
12: 44,330,401 (GRCm39) |
Q318* |
probably null |
Het |
| Ppp1cc |
C |
T |
5: 122,310,833 (GRCm39) |
R142* |
probably null |
Het |
| Pygl |
T |
A |
12: 70,254,498 (GRCm39) |
N149I |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,581,110 (GRCm39) |
S1285T |
probably benign |
Het |
| Rdh13 |
A |
C |
7: 4,447,296 (GRCm39) |
C10W |
probably damaging |
Het |
| Rgr |
A |
T |
14: 36,760,252 (GRCm39) |
C273S |
probably benign |
Het |
| Ripk4 |
G |
T |
16: 97,556,487 (GRCm39) |
Y22* |
probably null |
Het |
| Slc34a2 |
G |
A |
5: 53,222,215 (GRCm39) |
W302* |
probably null |
Het |
| Smarce1 |
G |
A |
11: 99,104,888 (GRCm39) |
T263M |
probably damaging |
Het |
| Sypl1 |
C |
T |
12: 33,017,564 (GRCm39) |
P94L |
possibly damaging |
Het |
| Tet3 |
A |
G |
6: 83,356,924 (GRCm39) |
I878T |
probably damaging |
Het |
| Tmem260 |
A |
G |
14: 48,709,935 (GRCm39) |
T163A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,555,796 (GRCm39) |
Y30403C |
probably damaging |
Het |
| Ubash3b |
A |
T |
9: 40,927,904 (GRCm39) |
M468K |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,081,717 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,719 (GRCm39) |
F243S |
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,229,764 (GRCm39) |
Y45C |
probably damaging |
Het |
| Zfp704 |
T |
C |
3: 9,674,424 (GRCm39) |
D119G |
unknown |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
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 |
|
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'- TGCTTGAAAGAAGCCATGTAAGTGAGAA -3'
(R):5'- GGGGATAGTCAGCTACCTTTAAGTGAGA -3'
Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- CTACCTTTAAGTGAGAGTAAGCAGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation