Incidental Mutation 'R8284:Tmem232'
ID |
638404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem232
|
Ensembl Gene |
ENSMUSG00000045036 |
Gene Name |
transmembrane protein 232 |
Synonyms |
LOC381107, E130009J12Rik |
MMRRC Submission |
067707-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R8284 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
65562994-65847777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65709990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 433
(I433F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062161]
[ENSMUST00000086722]
|
AlphaFold |
Q5K6N0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062161
AA Change: I433F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000055652 Gene: ENSMUSG00000045036 AA Change: I433F
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: I433F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000083927 Gene: ENSMUSG00000045036 AA Change: I433F
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
T |
C |
10: 61,034,438 (GRCm39) |
Y1147C |
possibly damaging |
Het |
Adgrf5 |
T |
A |
17: 43,766,161 (GRCm39) |
S1328T |
unknown |
Het |
Aff4 |
A |
G |
11: 53,295,379 (GRCm39) |
K860E |
probably damaging |
Het |
Aox1 |
A |
C |
1: 58,115,250 (GRCm39) |
H745P |
probably damaging |
Het |
Bpifc |
T |
C |
10: 85,836,413 (GRCm39) |
T31A |
probably benign |
Het |
C3 |
C |
A |
17: 57,530,938 (GRCm39) |
V388L |
probably benign |
Het |
Celsr3 |
G |
T |
9: 108,723,612 (GRCm39) |
M2874I |
probably damaging |
Het |
Cnga4 |
T |
A |
7: 105,057,239 (GRCm39) |
D550E |
probably benign |
Het |
Dhx8 |
A |
G |
11: 101,648,455 (GRCm39) |
T918A |
probably damaging |
Het |
Dnah14 |
A |
C |
1: 181,601,376 (GRCm39) |
E3670A |
probably benign |
Het |
Fbxo31 |
T |
C |
8: 122,287,181 (GRCm39) |
I131V |
probably benign |
Het |
Ftcd |
T |
C |
10: 76,413,893 (GRCm39) |
V99A |
probably benign |
Het |
Gucy2e |
A |
G |
11: 69,123,177 (GRCm39) |
V471A |
probably benign |
Het |
H60b |
T |
A |
10: 22,162,971 (GRCm39) |
L182Q |
probably benign |
Het |
Hbp1 |
G |
A |
12: 31,987,625 (GRCm39) |
H188Y |
probably damaging |
Het |
Itga4 |
C |
T |
2: 79,151,783 (GRCm39) |
T862I |
probably benign |
Het |
Kcnmb4 |
T |
A |
10: 116,254,158 (GRCm39) |
K206N |
probably damaging |
Het |
Klra4 |
A |
G |
6: 130,042,243 (GRCm39) |
F8S |
possibly damaging |
Het |
Mrpl2 |
C |
A |
17: 46,958,435 (GRCm39) |
Y72* |
probably null |
Het |
Nars2 |
C |
A |
7: 96,600,845 (GRCm39) |
|
probably benign |
Het |
Nup214 |
T |
C |
2: 31,886,458 (GRCm39) |
S607P |
possibly damaging |
Het |
Oas1d |
C |
T |
5: 121,057,221 (GRCm39) |
R276* |
probably null |
Het |
Or12d13 |
C |
T |
17: 37,647,587 (GRCm39) |
V179I |
probably benign |
Het |
Or1l8 |
T |
A |
2: 36,818,018 (GRCm39) |
Y36F |
probably damaging |
Het |
Or2t1 |
T |
A |
14: 14,329,011 (GRCm38) |
L300Q |
possibly damaging |
Het |
Or2y1b |
A |
G |
11: 49,209,002 (GRCm39) |
T210A |
probably benign |
Het |
Pex13 |
A |
G |
11: 23,605,685 (GRCm39) |
S182P |
possibly damaging |
Het |
Piwil4 |
G |
T |
9: 14,638,774 (GRCm39) |
N297K |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,129,789 (GRCm39) |
T1845A |
probably benign |
Het |
Pml |
T |
C |
9: 58,136,643 (GRCm39) |
N579D |
probably benign |
Het |
Ppl |
A |
G |
16: 4,950,201 (GRCm39) |
S3P |
probably damaging |
Het |
Pramel16 |
G |
T |
4: 143,676,695 (GRCm39) |
D136E |
possibly damaging |
Het |
Prss54 |
G |
A |
8: 96,285,994 (GRCm39) |
Q360* |
probably null |
Het |
Ralgps2 |
A |
G |
1: 156,655,718 (GRCm39) |
I402T |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,318,909 (GRCm39) |
D1123E |
|
Het |
Sdha |
A |
T |
13: 74,479,416 (GRCm39) |
|
probably null |
Het |
Senp8 |
G |
A |
9: 59,644,814 (GRCm39) |
T114I |
|
Het |
Setx |
C |
T |
2: 29,035,348 (GRCm39) |
T611I |
possibly damaging |
Het |
Shc1 |
T |
G |
3: 89,329,215 (GRCm39) |
S20A |
possibly damaging |
Het |
Slc15a1 |
T |
C |
14: 121,727,275 (GRCm39) |
I98V |
probably benign |
Het |
Snrk |
A |
G |
9: 121,989,538 (GRCm39) |
E294G |
probably damaging |
Het |
Sox18 |
G |
A |
2: 181,312,751 (GRCm39) |
P127S |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,007,387 (GRCm39) |
T206A |
probably benign |
Het |
Tcfl5 |
A |
G |
2: 180,280,330 (GRCm39) |
S358P |
probably benign |
Het |
Tecta |
T |
A |
9: 42,289,325 (GRCm39) |
L413F |
possibly damaging |
Het |
Tlk1 |
T |
C |
2: 70,544,365 (GRCm39) |
T757A |
probably benign |
Het |
Top1mt |
T |
A |
15: 75,539,712 (GRCm39) |
K300* |
probably null |
Het |
Trbv20 |
C |
T |
6: 41,165,782 (GRCm39) |
A69V |
probably damaging |
Het |
Trim12a |
A |
T |
7: 103,955,282 (GRCm39) |
L147Q |
probably damaging |
Het |
Tuba8 |
G |
A |
6: 121,199,736 (GRCm39) |
S140N |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,852,454 (GRCm39) |
N835K |
possibly damaging |
Het |
Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
Yipf7 |
C |
T |
5: 69,674,539 (GRCm39) |
G202D |
probably benign |
Het |
Ythdc1 |
T |
G |
5: 86,964,325 (GRCm39) |
S45A |
probably benign |
Het |
Zfp1002 |
T |
C |
2: 150,097,276 (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 |
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 |
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 |
65,689,628 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3789:Tmem232
|
UTSW |
17 |
65,689,520 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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'- TCCACTTTCCGTAGAGAGCTG -3'
(R):5'- GGAGAGTGTTCTGAATTTCAATTTCTC -3'
Sequencing Primer
(F):5'- CTTTCCGTAGAGAGCTGCTAAAC -3'
(R):5'- CATGCATTAGAAAGCATGTTCT -3'
|
Posted On |
2020-07-28 |