Incidental Mutation 'R2384:Tmem232'
| ID |
247663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem232
|
| Ensembl Gene |
ENSMUSG00000045036 |
| Gene Name |
transmembrane protein 232 |
| Synonyms |
LOC381107, E130009J12Rik |
| MMRRC Submission |
040358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R2384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
65562994-65847777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65709852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 479
(R479W)
|
| 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: R479W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055652
Gene: ENSMUSG00000045036
AA Change: R479W
| 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: R479W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083927
Gene: ENSMUSG00000045036
AA Change: R479W
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4933414I15Rik |
A |
G |
11: 50,833,333 (GRCm39) |
S90P |
unknown |
Het |
| Abca13 |
T |
C |
11: 9,217,450 (GRCm39) |
|
probably benign |
Het |
| Chpf |
C |
T |
1: 75,451,753 (GRCm39) |
R567H |
probably benign |
Het |
| Cnp |
A |
G |
11: 100,467,279 (GRCm39) |
Y74C |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,406 (GRCm39) |
V273D |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,951,591 (GRCm39) |
Y656C |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,470,288 (GRCm39) |
E107V |
possibly damaging |
Het |
| Fscn2 |
T |
C |
11: 120,257,559 (GRCm39) |
S307P |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,936 (GRCm39) |
E62G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,912,207 (GRCm39) |
Y394C |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,306 (GRCm39) |
I314T |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,863,964 (GRCm39) |
I293L |
probably benign |
Het |
| Il36g |
A |
G |
2: 24,082,660 (GRCm39) |
H145R |
probably benign |
Het |
| Ints12 |
T |
A |
3: 132,814,864 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,558,976 (GRCm39) |
S369G |
probably damaging |
Het |
| Klrh1 |
T |
A |
6: 129,749,343 (GRCm39) |
H84L |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,753,261 (GRCm39) |
|
probably null |
Het |
| Nlrp4g |
A |
G |
9: 124,349,707 (GRCm38) |
|
noncoding transcript |
Het |
| Obscn |
A |
G |
11: 58,933,663 (GRCm39) |
|
probably null |
Het |
| Ogdh |
C |
A |
11: 6,292,526 (GRCm39) |
A413D |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,879,269 (GRCm39) |
E283G |
probably damaging |
Het |
| Ripk1 |
A |
G |
13: 34,214,026 (GRCm39) |
D456G |
probably benign |
Het |
| Saxo4 |
A |
C |
19: 10,458,646 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
C |
9: 75,573,008 (GRCm39) |
T308A |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,878,344 (GRCm39) |
T228A |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,393 (GRCm39) |
E138G |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,630,204 (GRCm39) |
V104A |
probably benign |
Het |
| Trim26 |
C |
T |
17: 37,161,781 (GRCm39) |
P67S |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,378 (GRCm39) |
Y787C |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,424,074 (GRCm39) |
V1447D |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,199 (GRCm39) |
A527T |
probably damaging |
Het |
| Ucp2 |
A |
G |
7: 100,147,461 (GRCm39) |
I172V |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,749,220 (GRCm39) |
Y903N |
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 |
|
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 |
|
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'- AACCGTGGCCTGGTGATATG -3'
(R):5'- ATCATCATCGTCCCTGCAGG -3'
Sequencing Primer
(F):5'- ATAATGTCGTCCGGAACTTGGCTC -3'
(R):5'- ATCGTCCCTGCAGGTGAGAAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation