Incidental Mutation 'R5897:Tmub1'
ID |
457582 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmub1
|
Ensembl Gene |
ENSMUSG00000028958 |
Gene Name |
transmembrane and ubiquitin-like domain containing 1 |
Synonyms |
2010004O20Rik, Hops |
MMRRC Submission |
044096-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R5897 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
24650456-24652852 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24651925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 13
(T13M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110688
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030799]
[ENSMUST00000030800]
[ENSMUST00000115033]
[ENSMUST00000115036]
[ENSMUST00000115041]
[ENSMUST00000115043]
[ENSMUST00000123167]
[ENSMUST00000127194]
[ENSMUST00000144389]
|
AlphaFold |
Q9JMG3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030799
|
SMART Domains |
Protein: ENSMUSP00000030799 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 |
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: ENSMUST00000115033
|
SMART Domains |
Protein: ENSMUSP00000110685 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 |
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115036
AA Change: T13M
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000110688 Gene: ENSMUSG00000028958 AA Change: T13M
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 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: 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 |
noncoding transcript
Transcript: ENSMUST00000139307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144866
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132109
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195796
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130577
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131946
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132498
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144389
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198276
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.7%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
G |
16: 56,425,032 (GRCm39) |
T489A |
possibly damaging |
Het |
Adam3 |
T |
C |
8: 25,187,244 (GRCm39) |
T416A |
probably benign |
Het |
Agbl3 |
A |
G |
6: 34,780,508 (GRCm39) |
I494V |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,127,904 (GRCm39) |
S3747P |
probably benign |
Het |
Arhgef18 |
G |
T |
8: 3,489,682 (GRCm39) |
R338L |
probably damaging |
Het |
Atg16l1 |
G |
T |
1: 87,713,719 (GRCm39) |
|
probably null |
Het |
BC024139 |
A |
G |
15: 76,010,339 (GRCm39) |
S56P |
possibly damaging |
Het |
Ccdc121 |
T |
C |
5: 31,643,308 (GRCm39) |
|
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,206,578 (GRCm39) |
I223L |
probably benign |
Het |
Cdcp3 |
A |
T |
7: 130,798,280 (GRCm39) |
|
probably null |
Het |
Cep76 |
T |
A |
18: 67,771,398 (GRCm39) |
Q78L |
probably benign |
Het |
Cyp20a1 |
A |
C |
1: 60,392,220 (GRCm39) |
N92T |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,700,975 (GRCm39) |
D281G |
probably benign |
Het |
Cyp2j12 |
T |
C |
4: 95,990,279 (GRCm39) |
N429S |
probably damaging |
Het |
Dchs2 |
G |
A |
3: 83,192,717 (GRCm39) |
V1721I |
possibly damaging |
Het |
Elovl4 |
G |
A |
9: 83,672,157 (GRCm39) |
T54M |
possibly damaging |
Het |
Fam13b |
A |
G |
18: 34,587,134 (GRCm39) |
V542A |
possibly damaging |
Het |
Gje1 |
A |
T |
10: 14,592,467 (GRCm39) |
I105N |
probably damaging |
Het |
Grm4 |
G |
T |
17: 27,654,137 (GRCm39) |
F349L |
probably benign |
Het |
Hsd17b3 |
A |
G |
13: 64,236,799 (GRCm39) |
|
probably null |
Het |
Khdrbs1 |
A |
T |
4: 129,614,448 (GRCm39) |
D368E |
probably benign |
Het |
Klra10 |
T |
A |
6: 130,258,792 (GRCm39) |
R32* |
probably null |
Het |
Lrrc7 |
T |
A |
3: 157,869,990 (GRCm39) |
I644F |
probably damaging |
Het |
Or2i1 |
A |
T |
17: 37,508,151 (GRCm39) |
L161Q |
probably damaging |
Het |
Or2t1 |
G |
T |
14: 14,328,120 (GRCm38) |
G3V |
probably benign |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pbx3 |
A |
T |
2: 34,261,920 (GRCm39) |
S5T |
probably benign |
Het |
Pcdhb13 |
T |
A |
18: 37,576,264 (GRCm39) |
V214E |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,829,176 (GRCm39) |
D1022G |
probably benign |
Het |
Pla2g4a |
T |
A |
1: 149,740,899 (GRCm39) |
K380I |
probably damaging |
Het |
Prl3b1 |
A |
G |
13: 27,429,858 (GRCm39) |
T99A |
probably benign |
Het |
Prr12 |
C |
T |
7: 44,692,808 (GRCm39) |
V1575I |
probably damaging |
Het |
Ptpn5 |
C |
T |
7: 46,729,262 (GRCm39) |
V451I |
probably benign |
Het |
Rab1a |
C |
T |
11: 20,168,867 (GRCm39) |
R51* |
probably null |
Het |
Skint9 |
A |
G |
4: 112,271,113 (GRCm39) |
I99T |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,431,190 (GRCm39) |
V394A |
possibly damaging |
Het |
Tcf20 |
A |
T |
15: 82,735,984 (GRCm39) |
C1822* |
probably null |
Het |
Tdrd6 |
T |
A |
17: 43,935,768 (GRCm39) |
D1760V |
probably damaging |
Het |
Tinag |
C |
A |
9: 76,952,726 (GRCm39) |
C86F |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,249,459 (GRCm39) |
N91K |
probably damaging |
Het |
Txn2 |
G |
A |
15: 77,808,726 (GRCm39) |
A135V |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,553,935 (GRCm39) |
G3475R |
probably damaging |
Het |
Usp38 |
T |
C |
8: 81,732,082 (GRCm39) |
D276G |
probably benign |
Het |
Vax1 |
T |
A |
19: 59,158,233 (GRCm39) |
I77F |
unknown |
Het |
Vmn2r108 |
C |
T |
17: 20,691,580 (GRCm39) |
M314I |
probably benign |
Het |
Vmn2r4 |
C |
A |
3: 64,322,687 (GRCm39) |
G11* |
probably null |
Het |
Zcchc14 |
T |
C |
8: 122,331,899 (GRCm39) |
|
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 |
|
R2938:Tmub1
|
UTSW |
5 |
24,650,922 (GRCm39) |
makesense |
probably null |
|
R4438:Tmub1
|
UTSW |
5 |
24,651,068 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCAGAGGCTGACATGGCTTC -3'
(R):5'- CGGGTGCTGAATGAAGATCTAG -3'
Sequencing Primer
(F):5'- AGGCTGACATGGCTTCACTGG -3'
(R):5'- CAAAGCTAGCACTTGGAATCTG -3'
|
Posted On |
2017-02-15 |