Incidental Mutation 'IGL03085:Tmub1'
ID |
418079 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmub1
|
Ensembl Gene |
ENSMUSG00000028958 |
Gene Name |
transmembrane and ubiquitin-like domain containing 1 |
Synonyms |
2010004O20Rik, Hops |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
IGL03085
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
24650456-24652852 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24651096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 188
(G188S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030799]
[ENSMUST00000030800]
[ENSMUST00000115033]
[ENSMUST00000115036]
[ENSMUST00000115041]
[ENSMUST00000115043]
[ENSMUST00000127194]
[ENSMUST00000144389]
[ENSMUST00000123167]
|
AlphaFold |
Q9JMG3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030799
AA Change: G188S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000030799 Gene: ENSMUSG00000028958 AA Change: G188S
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 damaging
Transcript: ENSMUST00000115033
AA Change: G188S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110685 Gene: ENSMUSG00000028958 AA Change: G188S
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 damaging
Transcript: ENSMUST00000115036
AA Change: G203S
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110688 Gene: ENSMUSG00000028958 AA Change: G203S
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000123144
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000127194
AA Change: G188S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123173 Gene: ENSMUSG00000028958 AA Change: G188S
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 |
noncoding transcript
Transcript: ENSMUST00000149085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144866
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130577
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132498
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131946
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132109
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144389
|
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 |
noncoding transcript
Transcript: ENSMUST00000198276
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
A |
T |
14: 64,208,881 (GRCm39) |
H230Q |
probably benign |
Het |
Aagab |
T |
A |
9: 63,546,316 (GRCm39) |
|
probably benign |
Het |
Actl11 |
G |
T |
9: 107,806,749 (GRCm39) |
K357N |
probably damaging |
Het |
Aktip |
A |
G |
8: 91,852,651 (GRCm39) |
|
probably null |
Het |
Amtn |
A |
G |
5: 88,529,501 (GRCm39) |
|
probably benign |
Het |
Arhgap21 |
T |
A |
2: 20,919,532 (GRCm39) |
M58L |
probably benign |
Het |
Art2b |
T |
A |
7: 101,229,785 (GRCm39) |
Y38F |
probably damaging |
Het |
Asb10 |
T |
C |
5: 24,744,601 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
T |
9: 53,395,471 (GRCm39) |
D1699E |
possibly damaging |
Het |
Azi2 |
A |
C |
9: 117,888,214 (GRCm39) |
K259T |
probably damaging |
Het |
Bcas3 |
A |
G |
11: 85,367,609 (GRCm39) |
D77G |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,903,945 (GRCm39) |
R1246H |
probably damaging |
Het |
Cdh13 |
C |
A |
8: 120,015,463 (GRCm39) |
D559E |
probably damaging |
Het |
Chrm3 |
C |
T |
13: 9,927,570 (GRCm39) |
A489T |
probably damaging |
Het |
Ckap2l |
A |
T |
2: 129,126,967 (GRCm39) |
Y404N |
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,895,015 (GRCm39) |
|
probably benign |
Het |
Col4a1 |
T |
A |
8: 11,272,198 (GRCm39) |
K731* |
probably null |
Het |
Corin |
A |
T |
5: 72,511,273 (GRCm39) |
C360S |
probably damaging |
Het |
Cyp1a1 |
A |
C |
9: 57,608,995 (GRCm39) |
H292P |
possibly damaging |
Het |
Dennd5b |
A |
G |
6: 148,928,893 (GRCm39) |
V760A |
probably damaging |
Het |
Dhx57 |
T |
C |
17: 80,565,526 (GRCm39) |
D842G |
possibly damaging |
Het |
Emp2 |
C |
A |
16: 10,105,910 (GRCm39) |
|
probably benign |
Het |
Eral1 |
G |
A |
11: 77,969,093 (GRCm39) |
R136C |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,174,072 (GRCm39) |
M2214L |
probably benign |
Het |
Flnb |
G |
A |
14: 7,882,211 (GRCm38) |
R304H |
probably benign |
Het |
G6pd2 |
A |
T |
5: 61,967,645 (GRCm39) |
E473D |
probably benign |
Het |
Gpx8 |
A |
G |
13: 113,179,795 (GRCm39) |
Y169H |
probably damaging |
Het |
Ighv1-64 |
A |
G |
12: 115,471,461 (GRCm39) |
S19P |
possibly damaging |
Het |
Ikbkb |
G |
T |
8: 23,172,802 (GRCm39) |
N139K |
probably benign |
Het |
Inpp5b |
A |
T |
4: 124,686,115 (GRCm39) |
T720S |
probably benign |
Het |
Kmt2d |
C |
A |
15: 98,737,821 (GRCm39) |
|
probably benign |
Het |
Lrig2 |
G |
A |
3: 104,374,575 (GRCm39) |
P169S |
probably damaging |
Het |
Magi3 |
T |
A |
3: 103,922,655 (GRCm39) |
K1354I |
possibly damaging |
Het |
Mapk9 |
A |
T |
11: 49,757,865 (GRCm39) |
D103V |
probably damaging |
Het |
Mrpl46 |
A |
T |
7: 78,431,333 (GRCm39) |
I75N |
probably damaging |
Het |
Or3a1c |
T |
A |
11: 74,046,511 (GRCm39) |
I177N |
probably damaging |
Het |
Or8b41 |
A |
G |
9: 38,054,479 (GRCm39) |
E16G |
probably damaging |
Het |
Or8d2b |
G |
A |
9: 38,788,959 (GRCm39) |
M162I |
probably benign |
Het |
Otog |
G |
T |
7: 45,955,346 (GRCm39) |
|
probably null |
Het |
Pex11a |
A |
G |
7: 79,387,523 (GRCm39) |
L103P |
probably damaging |
Het |
Pnpla8 |
A |
G |
12: 44,358,305 (GRCm39) |
T687A |
probably benign |
Het |
Ppm1d |
A |
G |
11: 85,227,989 (GRCm39) |
I302V |
probably null |
Het |
Prdm11 |
C |
A |
2: 92,805,304 (GRCm39) |
V549F |
possibly damaging |
Het |
Prss54 |
G |
A |
8: 96,292,258 (GRCm39) |
P107L |
probably benign |
Het |
Rasa3 |
T |
A |
8: 13,635,690 (GRCm39) |
N422I |
probably benign |
Het |
Rbm27 |
T |
C |
18: 42,460,589 (GRCm39) |
|
probably benign |
Het |
Rpl13-ps3 |
A |
T |
14: 59,131,156 (GRCm39) |
|
noncoding transcript |
Het |
Rps6ka2 |
G |
A |
17: 7,562,679 (GRCm39) |
|
probably null |
Het |
Sphkap |
T |
A |
1: 83,258,075 (GRCm39) |
I223F |
possibly damaging |
Het |
Srm |
T |
C |
4: 148,677,838 (GRCm39) |
F159L |
probably damaging |
Het |
Stt3a |
A |
G |
9: 36,644,266 (GRCm39) |
|
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,638,027 (GRCm39) |
S395P |
possibly damaging |
Het |
Tecpr2 |
A |
G |
12: 110,921,260 (GRCm39) |
|
probably benign |
Het |
Trim66 |
T |
A |
7: 109,057,952 (GRCm39) |
I877F |
probably benign |
Het |
Ubr5 |
T |
C |
15: 38,029,812 (GRCm39) |
E471G |
probably damaging |
Het |
Vmn1r218 |
A |
T |
13: 23,321,481 (GRCm39) |
Y196F |
possibly damaging |
Het |
Vmn2r89 |
T |
A |
14: 51,689,615 (GRCm39) |
D39E |
probably damaging |
Het |
Wee1 |
C |
A |
7: 109,723,805 (GRCm39) |
P240Q |
probably damaging |
Het |
Zc3h12a |
A |
T |
4: 125,020,813 (GRCm39) |
V10D |
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,746,350 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Tmub1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R2938: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 |
|
Posted On |
2016-08-02 |