Incidental Mutation 'R3717:Tmub2'
| ID |
476176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmub2
|
| Ensembl Gene |
ENSMUSG00000034757 |
| Gene Name |
transmembrane and ubiquitin-like domain containing 2 |
| Synonyms |
2010008E23Rik |
| MMRRC Submission |
040709-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3717 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102175757-102180063 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 102175887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036376]
[ENSMUST00000073234]
[ENSMUST00000107132]
[ENSMUST00000107134]
[ENSMUST00000137387]
[ENSMUST00000156326]
|
| AlphaFold |
Q3V209 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036376
|
| SMART Domains |
Protein: ENSMUSP00000047600
Gene: ENSMUSG00000034757
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
UBQ
|
173 |
242 |
1.75e-9 |
SMART |
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073234
|
| SMART Domains |
Protein: ENSMUSP00000072967
Gene: ENSMUSG00000059995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sgf11
|
80 |
112 |
1.3e-21 |
PFAM |
|
low complexity region
|
135 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
159 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
202 |
239 |
8.8e-10 |
PFAM |
|
low complexity region
|
275 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000100387
AA Change: S41I
|
| SMART Domains |
Protein: ENSMUSP00000097956
Gene: ENSMUSG00000034757
AA Change: S41I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
UBQ
|
212 |
281 |
1.75e-9 |
SMART |
|
transmembrane domain
|
303 |
325 |
N/A |
INTRINSIC |
|
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107132
|
| SMART Domains |
Protein: ENSMUSP00000102750
Gene: ENSMUSG00000059995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sgf11
|
80 |
112 |
1.1e-21 |
PFAM |
|
low complexity region
|
135 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
159 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
209 |
246 |
7.8e-11 |
PFAM |
|
low complexity region
|
282 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
345 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107134
|
| SMART Domains |
Protein: ENSMUSP00000102752
Gene: ENSMUSG00000059995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sgf11
|
80 |
112 |
1.3e-21 |
PFAM |
|
low complexity region
|
135 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
159 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
202 |
239 |
8.8e-10 |
PFAM |
|
low complexity region
|
275 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137387
|
| SMART Domains |
Protein: ENSMUSP00000122610
Gene: ENSMUSG00000059995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sgf11
|
76 |
108 |
2.6e-21 |
PFAM |
|
low complexity region
|
131 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
155 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
205 |
242 |
1.9e-9 |
PFAM |
|
low complexity region
|
278 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145484
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156326
|
| SMART Domains |
Protein: ENSMUSP00000116327
Gene: ENSMUSG00000034757
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
UBQ
|
173 |
242 |
1.75e-9 |
SMART |
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141516
|
| SMART Domains |
Protein: ENSMUSP00000121917
Gene: ENSMUSG00000059995
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
51 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
113 |
150 |
6.7e-11 |
PFAM |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
249 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: This gene encodes a predicted multi-pass membrane protein that features a C-terminal ubiquitin-related domain. This gene may be expressed in cone photoreceptors in the retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd10 |
C |
T |
16: 45,552,137 (GRCm39) |
W245* |
probably null |
Het |
| Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Bpifb6 |
A |
G |
2: 153,750,061 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,948,386 (GRCm39) |
V232A |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,228,995 (GRCm39) |
M2031K |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
| Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
| Fgfr2 |
G |
A |
7: 129,784,487 (GRCm39) |
T270M |
probably damaging |
Het |
| Hoxd10 |
C |
T |
2: 74,524,474 (GRCm39) |
T262I |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,968,866 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
A |
T |
9: 4,330,598 (GRCm39) |
H324L |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
| Mtrex |
A |
G |
13: 113,032,129 (GRCm39) |
F561S |
probably damaging |
Het |
| Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,249,886 (GRCm39) |
S559P |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
| Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,016,369 (GRCm39) |
I127F |
possibly damaging |
Het |
| Ptx3 |
G |
T |
3: 66,132,376 (GRCm39) |
S299I |
probably benign |
Het |
| Rbbp4 |
T |
A |
4: 129,222,425 (GRCm39) |
D89V |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,716,088 (GRCm39) |
E375G |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,999,420 (GRCm39) |
|
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
| Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
| St8sia6 |
T |
C |
2: 13,661,745 (GRCm39) |
N362S |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,775,054 (GRCm39) |
D1996G |
possibly damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Vdac1 |
A |
G |
11: 52,267,473 (GRCm39) |
|
probably null |
Het |
| Vps51 |
G |
A |
19: 6,127,198 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,682 (GRCm39) |
R132G |
probably benign |
Het |
|
| Other mutations in Tmub2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0115:Tmub2
|
UTSW |
11 |
102,179,201 (GRCm39) |
splice site |
probably null |
|
|
R0332:Tmub2
|
UTSW |
11 |
102,179,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Tmub2
|
UTSW |
11 |
102,178,196 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1530:Tmub2
|
UTSW |
11 |
102,178,312 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2141:Tmub2
|
UTSW |
11 |
102,178,379 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2420:Tmub2
|
UTSW |
11 |
102,178,581 (GRCm39) |
missense |
probably benign |
|
|
R2421:Tmub2
|
UTSW |
11 |
102,178,581 (GRCm39) |
missense |
probably benign |
|
|
R4660:Tmub2
|
UTSW |
11 |
102,175,845 (GRCm39) |
unclassified |
probably benign |
|
|
R5238:Tmub2
|
UTSW |
11 |
102,175,820 (GRCm39) |
unclassified |
probably benign |
|
|
R5444:Tmub2
|
UTSW |
11 |
102,179,066 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6590:Tmub2
|
UTSW |
11 |
102,178,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6690:Tmub2
|
UTSW |
11 |
102,178,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9213:Tmub2
|
UTSW |
11 |
102,178,475 (GRCm39) |
missense |
|
|
|
R9569:Tmub2
|
UTSW |
11 |
102,179,153 (GRCm39) |
nonsense |
probably null |
|
|
R9572:Tmub2
|
UTSW |
11 |
102,176,541 (GRCm39) |
missense |
|
|
|
R9735:Tmub2
|
UTSW |
11 |
102,178,352 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
|
| Posted On |
2017-05-11 |
Incidental Mutation