Incidental Mutation 'R5238:Tmub2'
| ID |
400528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmub2
|
| Ensembl Gene |
ENSMUSG00000034757 |
| Gene Name |
transmembrane and ubiquitin-like domain containing 2 |
| Synonyms |
2010008E23Rik |
| MMRRC Submission |
042809-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5238 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102175757-102180063 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 102175820 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: N19D
|
| SMART Domains |
Protein: ENSMUSP00000097956
Gene: ENSMUSG00000034757
AA Change: N19D
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
T |
A |
12: 70,210,142 (GRCm39) |
|
probably null |
Het |
| Adamtsl5 |
C |
T |
10: 80,181,192 (GRCm39) |
G63D |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,127,569 (GRCm39) |
M68K |
probably benign |
Het |
| Atad2 |
A |
C |
15: 57,971,733 (GRCm39) |
H381Q |
possibly damaging |
Het |
| Bclaf1 |
T |
G |
10: 20,208,130 (GRCm39) |
|
probably benign |
Het |
| Ccdc188 |
A |
G |
16: 18,037,038 (GRCm39) |
E238G |
probably damaging |
Het |
| Cldn19 |
G |
T |
4: 119,112,930 (GRCm39) |
C54F |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,640,379 (GRCm39) |
V512A |
probably damaging |
Het |
| Cyfip1 |
G |
T |
7: 55,541,779 (GRCm39) |
A355S |
probably benign |
Het |
| Dffa |
T |
G |
4: 149,188,760 (GRCm39) |
L18R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,009,891 (GRCm39) |
E3761K |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,769,210 (GRCm39) |
T59A |
possibly damaging |
Het |
| Eed |
T |
C |
7: 89,626,173 (GRCm39) |
S67G |
probably benign |
Het |
| Fam181a |
C |
T |
12: 103,282,392 (GRCm39) |
A99V |
probably benign |
Het |
| Gm12185 |
G |
A |
11: 48,799,044 (GRCm39) |
T483I |
possibly damaging |
Het |
| Htr3b |
A |
T |
9: 48,848,542 (GRCm39) |
C234* |
probably null |
Het |
| Kidins220 |
C |
A |
12: 25,053,009 (GRCm39) |
T433K |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,943,502 (GRCm39) |
Y186H |
probably damaging |
Het |
| Mcm9 |
G |
T |
10: 53,506,093 (GRCm39) |
S60R |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,784,773 (GRCm39) |
C144S |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,955,461 (GRCm39) |
C364R |
probably damaging |
Het |
| Nptx2 |
T |
C |
5: 144,493,041 (GRCm39) |
I376T |
probably damaging |
Het |
| Or2a14 |
T |
C |
6: 43,130,961 (GRCm39) |
S241P |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,604,834 (GRCm39) |
C2191S |
probably damaging |
Het |
| Plxdc2 |
T |
A |
2: 16,655,026 (GRCm39) |
F208L |
probably damaging |
Het |
| Robo3 |
A |
C |
9: 37,328,175 (GRCm39) |
Y1339D |
probably damaging |
Het |
| Rsph9 |
G |
T |
17: 46,446,008 (GRCm39) |
Y42* |
probably null |
Het |
| Slc39a1 |
T |
A |
3: 90,156,702 (GRCm39) |
L86Q |
probably null |
Het |
| Slfn8 |
T |
C |
11: 82,904,214 (GRCm39) |
D392G |
probably damaging |
Het |
| Tiprl |
A |
G |
1: 165,043,337 (GRCm39) |
V263A |
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,918,702 (GRCm39) |
F681I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uba3 |
A |
T |
6: 97,178,896 (GRCm39) |
C68* |
probably null |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,799 (GRCm39) |
M137L |
probably benign |
Het |
| Vmn1r50 |
C |
T |
6: 90,084,465 (GRCm39) |
A70V |
possibly damaging |
Het |
| Wwc1 |
T |
C |
11: 35,766,723 (GRCm39) |
K511E |
probably benign |
Het |
| Zfp600 |
T |
C |
4: 146,131,741 (GRCm39) |
|
probably null |
Het |
| Zng1 |
G |
T |
19: 24,897,994 (GRCm39) |
T382K |
probably damaging |
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 |
|
|
R3717:Tmub2
|
UTSW |
11 |
102,175,887 (GRCm39) |
unclassified |
probably benign |
|
|
R4660:Tmub2
|
UTSW |
11 |
102,175,845 (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 |
PCR Primer
(F):5'- AATGGGCGTGGTCTTACTGC -3'
(R):5'- CCGGGACAGTGATGGTTTAG -3'
Sequencing Primer
(F):5'- CGTGGTCTTACTGCCGGAG -3'
(R):5'- ACCCCTCAAACTTCGGGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation