Incidental Mutation 'R3789:Tmem232'
| ID |
272460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem232
|
| Ensembl Gene |
ENSMUSG00000045036 |
| Gene Name |
transmembrane protein 232 |
| Synonyms |
LOC381107, E130009J12Rik |
| MMRRC Submission |
041604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R3789 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
65562994-65847777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 65689628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 496
(D496Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062161]
[ENSMUST00000086722]
|
| AlphaFold |
Q5K6N0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062161
AA Change: D496Y
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000055652
Gene: ENSMUSG00000045036
AA Change: D496Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM232
|
40 |
488 |
5.3e-235 |
PFAM |
|
coiled coil region
|
598 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086722
AA Change: D496Y
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083927
Gene: ENSMUSG00000045036
AA Change: D496Y
| 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 |
0.1680 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,460,668 (GRCm39) |
I4226N |
probably damaging |
Het |
| Abhd16a |
A |
G |
17: 35,320,563 (GRCm39) |
N411S |
probably damaging |
Het |
| Acvrl1 |
C |
T |
15: 101,035,350 (GRCm39) |
T292M |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,870,588 (GRCm39) |
S688P |
probably damaging |
Het |
| Adprs |
A |
T |
4: 126,210,544 (GRCm39) |
I312N |
probably damaging |
Het |
| Bclaf3 |
A |
G |
X: 158,349,492 (GRCm39) |
H619R |
probably benign |
Het |
| Clca4a |
C |
A |
3: 144,680,717 (GRCm39) |
G20V |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,547,005 (GRCm39) |
V2276L |
possibly damaging |
Het |
| Cstdc2 |
C |
A |
2: 148,689,878 (GRCm39) |
E92* |
probably null |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
T |
A |
14: 67,476,942 (GRCm39) |
|
probably null |
Het |
| Emc8 |
T |
C |
8: 121,384,869 (GRCm39) |
T195A |
probably benign |
Het |
| Frs3 |
G |
A |
17: 48,010,621 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,813,058 (GRCm39) |
S640P |
probably damaging |
Het |
| Hdhd2 |
G |
A |
18: 77,042,883 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,955,613 (GRCm39) |
S1310P |
probably damaging |
Het |
| Hltf |
C |
T |
3: 20,123,211 (GRCm39) |
P200S |
probably damaging |
Het |
| Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,407,838 (GRCm39) |
D1817G |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,078,956 (GRCm39) |
I253V |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,456,022 (GRCm39) |
T1512A |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,492,113 (GRCm39) |
R403W |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,517,115 (GRCm39) |
D222G |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,156 (GRCm39) |
D127E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,730,464 (GRCm39) |
|
probably benign |
Het |
| Plekha7 |
A |
C |
7: 115,774,969 (GRCm39) |
I175R |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,938,355 (GRCm39) |
V1303D |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
| Rexo2 |
A |
G |
9: 48,384,362 (GRCm39) |
I139T |
probably damaging |
Het |
| Rsbn1l |
A |
C |
5: 21,101,106 (GRCm39) |
S811R |
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,814,276 (GRCm39) |
D345G |
probably benign |
Het |
| Serpina1b |
A |
G |
12: 103,695,531 (GRCm39) |
S337P |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,827,617 (GRCm39) |
S134P |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,825,844 (GRCm39) |
E539G |
probably benign |
Het |
| Sorcs3 |
A |
G |
19: 48,387,150 (GRCm39) |
T212A |
possibly damaging |
Het |
| Spa17 |
T |
G |
9: 37,523,141 (GRCm39) |
K49Q |
possibly damaging |
Het |
| St3gal6 |
C |
T |
16: 58,305,136 (GRCm39) |
E109K |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,050,955 (GRCm39) |
N5D |
probably benign |
Het |
| Tmem81 |
A |
G |
1: 132,435,809 (GRCm39) |
N205S |
probably benign |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,348 (GRCm39) |
N567I |
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 |
|
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 |
|
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'- GCAATGAAACCCGGGTTCAC -3'
(R):5'- GGAGGTTATCACAAAGGTTAGTTTTAC -3'
Sequencing Primer
(F):5'- AATGAAACCCGGGTTCACTTACTTC -3'
(R):5'- GAGCCTTAACCCAGTGAATTCATGG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation