Incidental Mutation 'R2938:Tmub1'
ID |
256096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmub1
|
Ensembl Gene |
ENSMUSG00000028958 |
Gene Name |
transmembrane and ubiquitin-like domain containing 1 |
Synonyms |
2010004O20Rik, Hops |
MMRRC Submission |
040515-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R2938 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
24650456-24652852 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to G
at 24650922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glutamine
at position 261
(*261Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110688
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030799]
[ENSMUST00000030800]
[ENSMUST00000080067]
[ENSMUST00000115033]
[ENSMUST00000115036]
[ENSMUST00000115041]
[ENSMUST00000123167]
[ENSMUST00000115049]
[ENSMUST00000127194]
[ENSMUST00000115043]
[ENSMUST00000115047]
[ENSMUST00000144389]
|
AlphaFold |
Q9JMG3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030799
AA Change: *246Q
|
SMART Domains |
Protein: ENSMUSP00000030799 Gene: ENSMUSG00000028958 AA Change: *246Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
UBQ
|
102 |
171 |
4.58e-4 |
SMART |
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000030800
|
SMART Domains |
Protein: ENSMUSP00000030800 Gene: ENSMUSG00000028959
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
low complexity region
|
180 |
194 |
N/A |
INTRINSIC |
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
Pfam:FAST_1
|
274 |
340 |
7.4e-18 |
PFAM |
Pfam:FAST_2
|
351 |
440 |
5e-20 |
PFAM |
RAP
|
475 |
532 |
3.04e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080067
|
SMART Domains |
Protein: ENSMUSP00000078972 Gene: ENSMUSG00000028962
Domain | Start | End | E-Value | Type |
low complexity region
|
93 |
110 |
N/A |
INTRINSIC |
low complexity region
|
112 |
135 |
N/A |
INTRINSIC |
low complexity region
|
138 |
151 |
N/A |
INTRINSIC |
low complexity region
|
169 |
178 |
N/A |
INTRINSIC |
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
low complexity region
|
296 |
313 |
N/A |
INTRINSIC |
Pfam:Band_3_cyto
|
348 |
616 |
4.7e-111 |
PFAM |
Pfam:HCO3_cotransp
|
671 |
1165 |
1.7e-217 |
PFAM |
transmembrane domain
|
1183 |
1200 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115033
AA Change: *246Q
|
SMART Domains |
Protein: ENSMUSP00000110685 Gene: ENSMUSG00000028958 AA Change: *246Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
UBQ
|
102 |
171 |
4.58e-4 |
SMART |
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115036
AA Change: *261Q
|
SMART Domains |
Protein: ENSMUSP00000110688 Gene: ENSMUSG00000028958 AA Change: *261Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
45 |
N/A |
INTRINSIC |
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
UBQ
|
117 |
186 |
4.58e-4 |
SMART |
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
transmembrane domain
|
207 |
229 |
N/A |
INTRINSIC |
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115041
|
SMART Domains |
Protein: ENSMUSP00000110693 Gene: ENSMUSG00000028959
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
Pfam:FAST_1
|
136 |
204 |
5.4e-24 |
PFAM |
Pfam:FAST_2
|
212 |
303 |
4.7e-26 |
PFAM |
RAP
|
338 |
395 |
3.04e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123144
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132109
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130577
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131946
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132498
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123167
|
SMART Domains |
Protein: ENSMUSP00000122487 Gene: ENSMUSG00000028958
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
Blast:UBQ
|
102 |
122 |
2e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115049
|
SMART Domains |
Protein: ENSMUSP00000110701 Gene: ENSMUSG00000028962
Domain | Start | End | E-Value | Type |
low complexity region
|
84 |
101 |
N/A |
INTRINSIC |
low complexity region
|
103 |
126 |
N/A |
INTRINSIC |
low complexity region
|
129 |
142 |
N/A |
INTRINSIC |
low complexity region
|
160 |
169 |
N/A |
INTRINSIC |
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
low complexity region
|
287 |
304 |
N/A |
INTRINSIC |
Pfam:Band_3_cyto
|
339 |
607 |
7.3e-108 |
PFAM |
Pfam:HCO3_cotransp
|
661 |
1156 |
1e-244 |
PFAM |
transmembrane domain
|
1174 |
1191 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127194
|
SMART Domains |
Protein: ENSMUSP00000123173 Gene: ENSMUSG00000028958
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
UBQ
|
102 |
171 |
4.58e-4 |
SMART |
low complexity region
|
175 |
204 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115043
|
SMART Domains |
Protein: ENSMUSP00000110695 Gene: ENSMUSG00000028959
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
low complexity region
|
180 |
194 |
N/A |
INTRINSIC |
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
Pfam:FAST_1
|
273 |
341 |
7.6e-24 |
PFAM |
Pfam:FAST_2
|
349 |
440 |
6.9e-26 |
PFAM |
Pfam:RAP
|
475 |
513 |
1.4e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115047
|
SMART Domains |
Protein: ENSMUSP00000110699 Gene: ENSMUSG00000028962
Domain | Start | End | E-Value | Type |
low complexity region
|
79 |
96 |
N/A |
INTRINSIC |
low complexity region
|
98 |
121 |
N/A |
INTRINSIC |
low complexity region
|
124 |
137 |
N/A |
INTRINSIC |
low complexity region
|
155 |
164 |
N/A |
INTRINSIC |
low complexity region
|
186 |
202 |
N/A |
INTRINSIC |
low complexity region
|
282 |
299 |
N/A |
INTRINSIC |
Pfam:Band_3_cyto
|
334 |
602 |
7.2e-108 |
PFAM |
Pfam:HCO3_cotransp
|
656 |
1151 |
1e-244 |
PFAM |
transmembrane domain
|
1169 |
1186 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144866
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198276
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144389
|
Meta Mutation Damage Score |
0.9214 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (62/62) |
MGI Phenotype |
PHENOTYPE: Knockout mice exhibit a strong increase in home cage locomotor activity during the dark phase (subjective day) of the light:dark (L:D) cycle, and increased waking and decreased NREM & REM times during the dark phase as determined by EEG analysis. Decreased abdominal fat and monocyte counts are seen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef2 |
T |
A |
2: 166,736,653 (GRCm39) |
I1775K |
probably damaging |
Het |
Arhgap45 |
T |
A |
10: 79,864,836 (GRCm39) |
M933K |
probably damaging |
Het |
Astn2 |
A |
T |
4: 65,910,550 (GRCm39) |
H427Q |
possibly damaging |
Het |
Bace2 |
T |
C |
16: 97,213,388 (GRCm39) |
|
probably null |
Het |
Cacna1b |
A |
G |
2: 24,496,540 (GRCm39) |
V125A |
probably benign |
Het |
Cbarp |
T |
C |
10: 79,967,603 (GRCm39) |
D539G |
probably damaging |
Het |
Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
Ccdc73 |
T |
A |
2: 104,805,980 (GRCm39) |
L296* |
probably null |
Het |
Cd40 |
G |
C |
2: 164,911,622 (GRCm39) |
V191L |
probably benign |
Het |
Cdc6 |
A |
G |
11: 98,801,586 (GRCm39) |
I217V |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cdr1 |
T |
G |
X: 60,228,968 (GRCm39) |
D66A |
unknown |
Het |
Cela3b |
A |
G |
4: 137,150,574 (GRCm39) |
I208T |
probably benign |
Het |
Col1a2 |
A |
T |
6: 4,520,788 (GRCm39) |
Q375L |
possibly damaging |
Het |
Csn1s1 |
A |
T |
5: 87,824,995 (GRCm39) |
Q221L |
possibly damaging |
Het |
Cstl1 |
T |
A |
2: 148,592,977 (GRCm39) |
I44N |
possibly damaging |
Het |
Depdc5 |
G |
A |
5: 33,058,965 (GRCm39) |
|
probably null |
Het |
Dthd1 |
A |
G |
5: 63,000,300 (GRCm39) |
I541V |
probably benign |
Het |
Eml6 |
G |
A |
11: 29,783,049 (GRCm39) |
|
probably benign |
Het |
Fkbp15 |
T |
A |
4: 62,222,900 (GRCm39) |
T1000S |
probably benign |
Het |
Gimap8 |
A |
T |
6: 48,635,730 (GRCm39) |
R498S |
possibly damaging |
Het |
Glis1 |
A |
G |
4: 107,489,488 (GRCm39) |
N692D |
possibly damaging |
Het |
Gpr83 |
A |
G |
9: 14,776,167 (GRCm39) |
T163A |
probably benign |
Het |
Hmgcr |
G |
A |
13: 96,799,576 (GRCm39) |
L173F |
probably damaging |
Het |
Htr2b |
T |
A |
1: 86,030,177 (GRCm39) |
I173F |
possibly damaging |
Het |
Ifna11 |
T |
C |
4: 88,738,530 (GRCm39) |
L112P |
probably damaging |
Het |
Lmod1 |
A |
G |
1: 135,291,654 (GRCm39) |
K170E |
probably benign |
Het |
Lrrtm1 |
A |
T |
6: 77,220,635 (GRCm39) |
M31L |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,326,695 (GRCm39) |
N2815S |
probably damaging |
Het |
Man1c1 |
A |
G |
4: 134,430,263 (GRCm39) |
I173T |
possibly damaging |
Het |
Man2b2 |
A |
G |
5: 36,978,330 (GRCm39) |
I318T |
probably benign |
Het |
Mib1 |
T |
A |
18: 10,752,033 (GRCm39) |
|
probably benign |
Het |
Myo10 |
T |
A |
15: 25,795,803 (GRCm39) |
S1315T |
probably damaging |
Het |
Nsun5 |
C |
T |
5: 135,404,317 (GRCm39) |
Q375* |
probably null |
Het |
Opcml |
A |
G |
9: 27,702,682 (GRCm39) |
M1V |
probably null |
Het |
Or4d5 |
A |
T |
9: 40,012,039 (GRCm39) |
I249K |
probably benign |
Het |
Or5m3 |
T |
C |
2: 85,838,357 (GRCm39) |
M79T |
probably damaging |
Het |
Or6c66b |
T |
A |
10: 129,376,484 (GRCm39) |
F26Y |
probably damaging |
Het |
Parm1 |
T |
C |
5: 91,742,328 (GRCm39) |
I232T |
possibly damaging |
Het |
Pdss1 |
T |
A |
2: 22,796,799 (GRCm39) |
|
probably null |
Het |
Pfkfb2 |
G |
A |
1: 130,633,147 (GRCm39) |
T202I |
possibly damaging |
Het |
Postn |
T |
A |
3: 54,277,731 (GRCm39) |
F242Y |
probably damaging |
Het |
Prss12 |
A |
G |
3: 123,280,625 (GRCm39) |
T437A |
probably benign |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rbm10 |
T |
C |
X: 20,513,934 (GRCm39) |
L429P |
possibly damaging |
Het |
Saraf |
A |
G |
8: 34,635,735 (GRCm39) |
N346D |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,524,618 (GRCm39) |
D93G |
probably damaging |
Het |
Sgcg |
A |
T |
14: 61,467,074 (GRCm39) |
F175L |
probably damaging |
Het |
Sh3rf2 |
A |
G |
18: 42,282,789 (GRCm39) |
D449G |
probably benign |
Het |
Slc9a3 |
T |
C |
13: 74,269,788 (GRCm39) |
I52T |
possibly damaging |
Het |
Tcf7 |
A |
T |
11: 52,173,610 (GRCm39) |
|
probably null |
Het |
Tlr1 |
A |
G |
5: 65,083,251 (GRCm39) |
V442A |
probably damaging |
Het |
Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
Utp4 |
A |
G |
8: 107,649,561 (GRCm39) |
D670G |
probably damaging |
Het |
Vamp5 |
A |
G |
6: 72,346,323 (GRCm39) |
V91A |
probably benign |
Het |
Vmn1r35 |
A |
T |
6: 66,655,950 (GRCm39) |
M73K |
possibly damaging |
Het |
Vmn2r12 |
C |
T |
5: 109,239,397 (GRCm39) |
E389K |
probably damaging |
Het |
Wdsub1 |
T |
C |
2: 59,703,630 (GRCm39) |
T112A |
possibly damaging |
Het |
Xpo4 |
G |
T |
14: 57,841,897 (GRCm39) |
Q473K |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,909,130 (GRCm39) |
I797T |
probably damaging |
Het |
Zfp808 |
G |
A |
13: 62,319,032 (GRCm39) |
V67M |
probably benign |
Het |
|
Other mutations in Tmub1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03085:Tmub1
|
APN |
5 |
24,651,096 (GRCm39) |
missense |
probably damaging |
0.99 |
P0018:Tmub1
|
UTSW |
5 |
24,651,755 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2256:Tmub1
|
UTSW |
5 |
24,652,175 (GRCm39) |
unclassified |
probably benign |
|
R2256:Tmub1
|
UTSW |
5 |
24,651,922 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2257:Tmub1
|
UTSW |
5 |
24,651,922 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2937:Tmub1
|
UTSW |
5 |
24,650,922 (GRCm39) |
makesense |
probably null |
|
R4438:Tmub1
|
UTSW |
5 |
24,651,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R5897:Tmub1
|
UTSW |
5 |
24,651,925 (GRCm39) |
missense |
probably benign |
0.03 |
R6703:Tmub1
|
UTSW |
5 |
24,651,944 (GRCm39) |
missense |
probably benign |
0.18 |
R7500:Tmub1
|
UTSW |
5 |
24,652,507 (GRCm39) |
unclassified |
probably benign |
|
R7525:Tmub1
|
UTSW |
5 |
24,651,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R7867:Tmub1
|
UTSW |
5 |
24,651,664 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8896:Tmub1
|
UTSW |
5 |
24,651,680 (GRCm39) |
missense |
probably benign |
0.01 |
R8957:Tmub1
|
UTSW |
5 |
24,651,775 (GRCm39) |
missense |
probably benign |
0.06 |
R9331:Tmub1
|
UTSW |
5 |
24,650,985 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Tmub1
|
UTSW |
5 |
24,651,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTATGAAGATCACACGGAGC -3'
(R):5'- AGACACTAGGCAGTCTCCAC -3'
Sequencing Primer
(F):5'- ATCACACGGAGCGGCCTC -3'
(R):5'- AGAGTCGGTCCCCCACATC -3'
|
Posted On |
2014-12-29 |