Incidental Mutation 'R2294:Tmem232'
ID |
245119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem232
|
Ensembl Gene |
ENSMUSG00000045036 |
Gene Name |
transmembrane protein 232 |
Synonyms |
LOC381107, E130009J12Rik |
MMRRC Submission |
040293-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R2294 (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 65757436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 252
(N252K)
|
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: N252K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000055652 Gene: ENSMUSG00000045036 AA Change: N252K
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: N252K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000083927 Gene: ENSMUSG00000045036 AA Change: N252K
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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (30/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
C |
T |
15: 98,495,322 (GRCm39) |
V673I |
possibly damaging |
Het |
Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
Chchd3 |
T |
C |
6: 32,829,122 (GRCm39) |
E166G |
probably damaging |
Het |
Chrna7 |
A |
T |
7: 62,760,172 (GRCm39) |
S135T |
probably benign |
Het |
Dxo |
G |
A |
17: 35,057,962 (GRCm39) |
|
probably null |
Het |
Fbxw18 |
A |
G |
9: 109,505,865 (GRCm39) |
S469P |
probably damaging |
Het |
G3bp2 |
G |
A |
5: 92,205,887 (GRCm39) |
R290C |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,026,591 (GRCm39) |
L103P |
probably damaging |
Het |
Lrig3 |
C |
T |
10: 125,802,363 (GRCm39) |
R7* |
probably null |
Het |
Lrp6 |
A |
G |
6: 134,434,705 (GRCm39) |
C1333R |
probably damaging |
Het |
Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,680 (GRCm39) |
N154I |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,200,155 (GRCm39) |
D252E |
probably damaging |
Het |
Nos3 |
T |
A |
5: 24,569,855 (GRCm39) |
V7E |
probably damaging |
Het |
Or1e33 |
A |
G |
11: 73,738,312 (GRCm39) |
L213P |
probably damaging |
Het |
Osbpl6 |
A |
T |
2: 76,407,423 (GRCm39) |
D446V |
possibly damaging |
Het |
Pik3c2b |
C |
A |
1: 132,994,513 (GRCm39) |
P159H |
probably damaging |
Het |
Pkhd1l1 |
C |
T |
15: 44,343,003 (GRCm39) |
T160I |
probably damaging |
Het |
Prelid3a |
C |
T |
18: 67,605,941 (GRCm39) |
T16M |
probably damaging |
Het |
Prl7b1 |
A |
T |
13: 27,786,854 (GRCm39) |
M125K |
possibly damaging |
Het |
Rars1 |
C |
A |
11: 35,708,363 (GRCm39) |
|
probably benign |
Het |
Ripk1 |
A |
G |
13: 34,200,991 (GRCm39) |
T235A |
probably benign |
Het |
Slc38a2 |
C |
A |
15: 96,589,643 (GRCm39) |
V363L |
probably benign |
Het |
Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
Tgfb3 |
T |
C |
12: 86,116,684 (GRCm39) |
N118S |
probably benign |
Het |
Tmem175 |
T |
C |
5: 108,786,525 (GRCm39) |
|
probably benign |
Het |
Trappc8 |
G |
T |
18: 20,999,211 (GRCm39) |
C305* |
probably null |
Het |
Tyro3 |
T |
C |
2: 119,636,126 (GRCm39) |
V223A |
probably damaging |
Het |
Yipf2 |
C |
T |
9: 21,501,177 (GRCm39) |
V74M |
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 |
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'- TTTCGGGCACTAAGGTCTCC -3'
(R):5'- GATACATTGAACACAGGGACTTG -3'
Sequencing Primer
(F):5'- ACTAAGGTCTCCTGGAGTCAC -3'
(R):5'- CATTGAACACAGGGACTTGTAAAC -3'
|
Posted On |
2014-10-30 |