Incidental Mutation 'IGL01455:Tmem262'
| ID |
84743 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem262
|
| Ensembl Gene |
ENSMUSG00000047733 |
| Gene Name |
transmembrane protein 262 |
| Synonyms |
BC048609 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
IGL01455
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6130063-6130818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 6130189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 6
(R6L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025704]
[ENSMUST00000025707]
[ENSMUST00000025711]
[ENSMUST00000143303]
[ENSMUST00000149347]
[ENSMUST00000159832]
[ENSMUST00000160448]
[ENSMUST00000160712]
[ENSMUST00000161548]
[ENSMUST00000159859]
[ENSMUST00000160977]
[ENSMUST00000160590]
[ENSMUST00000160233]
|
| AlphaFold |
D3Z338 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025704
|
| SMART Domains |
Protein: ENSMUSP00000025704
Gene: ENSMUSG00000024791
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
34 |
N/A |
INTRINSIC |
|
Pfam:Sororin
|
88 |
228 |
4.1e-31 |
PFAM |
|
low complexity region
|
251 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025707
|
| SMART Domains |
Protein: ENSMUSP00000025707
Gene: ENSMUSG00000024792
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
53 |
100 |
1.14e-1 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
193 |
N/A |
INTRINSIC |
|
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025711
|
| SMART Domains |
Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:COG2
|
56 |
191 |
2.6e-10 |
PFAM |
|
Pfam:DUF2450
|
62 |
250 |
2.3e-14 |
PFAM |
|
Pfam:Vps51
|
63 |
149 |
1.1e-26 |
PFAM |
|
Pfam:Dor1
|
75 |
246 |
1.8e-19 |
PFAM |
|
Pfam:Zw10
|
83 |
291 |
2.2e-8 |
PFAM |
|
Pfam:Sec5
|
101 |
275 |
6.5e-24 |
PFAM |
|
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
758 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143303
AA Change: R6L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121339
Gene: ENSMUSG00000047733
AA Change: R6L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
99 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149347
AA Change: R6L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116436
Gene: ENSMUSG00000047733
AA Change: R6L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159832
|
| SMART Domains |
Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:COG2
|
56 |
191 |
2e-10 |
PFAM |
|
Pfam:DUF2450
|
62 |
250 |
1.9e-14 |
PFAM |
|
Pfam:Vps51
|
63 |
149 |
8.3e-27 |
PFAM |
|
Pfam:Dor1
|
75 |
246 |
1.8e-19 |
PFAM |
|
Pfam:Sec5
|
101 |
275 |
1.6e-19 |
PFAM |
|
low complexity region
|
276 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
758 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162374
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160448
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160712
|
| SMART Domains |
Protein: ENSMUSP00000125085
Gene: ENSMUSG00000024792
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
53 |
100 |
1.14e-1 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161548
|
| SMART Domains |
Protein: ENSMUSP00000125459
Gene: ENSMUSG00000024792
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
53 |
100 |
1.14e-1 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159859
|
| SMART Domains |
Protein: ENSMUSP00000124857
Gene: ENSMUSG00000024792
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
53 |
100 |
1.14e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160977
|
| SMART Domains |
Protein: ENSMUSP00000125176
Gene: ENSMUSG00000024792
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
53 |
100 |
1.14e-1 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160590
|
| SMART Domains |
Protein: ENSMUSP00000123857
Gene: ENSMUSG00000024797
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:Vps51
|
63 |
121 |
2.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160233
|
| SMART Domains |
Protein: ENSMUSP00000124842
Gene: ENSMUSG00000024797
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,214,131 (GRCm39) |
D87G |
possibly damaging |
Het |
| Adgra3 |
G |
A |
5: 50,144,899 (GRCm39) |
R565* |
probably null |
Het |
| Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
| Arb2a |
A |
T |
13: 78,050,766 (GRCm39) |
|
probably benign |
Het |
| B3gnt2 |
A |
T |
11: 22,787,042 (GRCm39) |
W49R |
probably damaging |
Het |
| Ccdc112 |
T |
A |
18: 46,426,511 (GRCm39) |
K137N |
possibly damaging |
Het |
| Ccdc117 |
G |
T |
11: 5,484,297 (GRCm39) |
T181K |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,033,277 (GRCm39) |
K756E |
possibly damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cyp2c29 |
T |
A |
19: 39,317,561 (GRCm39) |
I349K |
possibly damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,825,219 (GRCm39) |
T434A |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,441,451 (GRCm39) |
I106V |
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,481,922 (GRCm39) |
|
probably benign |
Het |
| Erbin |
G |
T |
13: 103,995,895 (GRCm39) |
P269Q |
probably damaging |
Het |
| Fbxw22 |
C |
T |
9: 109,214,062 (GRCm39) |
M251I |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,308,354 (GRCm39) |
T9S |
probably benign |
Het |
| Haus8 |
T |
C |
8: 71,705,875 (GRCm39) |
I270V |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,121,922 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
G |
A |
4: 137,281,128 (GRCm39) |
V3367M |
probably damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,385 (GRCm39) |
F302L |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,279,773 (GRCm39) |
C458R |
probably damaging |
Het |
| Klhl18 |
T |
C |
9: 110,261,511 (GRCm39) |
E411G |
probably damaging |
Het |
| Krt20 |
A |
T |
11: 99,322,769 (GRCm39) |
F289I |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,355,065 (GRCm39) |
|
probably null |
Het |
| Nav1 |
T |
C |
1: 135,397,373 (GRCm39) |
D932G |
probably benign |
Het |
| Nme4 |
A |
T |
17: 26,311,036 (GRCm39) |
D176E |
probably benign |
Het |
| Nox4 |
C |
T |
7: 87,025,424 (GRCm39) |
S517L |
possibly damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,368 (GRCm39) |
L258H |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,492,659 (GRCm39) |
H82L |
probably benign |
Het |
| Pip5k1a |
T |
C |
3: 94,975,471 (GRCm39) |
D333G |
probably benign |
Het |
| Polb |
T |
C |
8: 23,143,088 (GRCm39) |
Y36C |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,030,877 (GRCm39) |
I953T |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,659,686 (GRCm39) |
D1071E |
probably damaging |
Het |
| Stxbp3-ps |
T |
C |
19: 9,535,371 (GRCm39) |
|
noncoding transcript |
Het |
| Tmcc3 |
A |
T |
10: 94,422,617 (GRCm39) |
I356F |
probably damaging |
Het |
| Tnks |
C |
A |
8: 35,408,054 (GRCm39) |
V225L |
probably damaging |
Het |
|
| Other mutations in Tmem262 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4789:Tmem262
|
UTSW |
19 |
6,130,452 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6212:Tmem262
|
UTSW |
19 |
6,130,668 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6228:Tmem262
|
UTSW |
19 |
6,130,567 (GRCm39) |
splice site |
probably null |
|
|
R6657:Tmem262
|
UTSW |
19 |
6,130,542 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6919:Tmem262
|
UTSW |
19 |
6,130,767 (GRCm39) |
missense |
probably benign |
|
|
R8005:Tmem262
|
UTSW |
19 |
6,130,507 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8828:Tmem262
|
UTSW |
19 |
6,130,118 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Tmem262
|
UTSW |
19 |
6,130,151 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2013-11-11 |
Incidental Mutation