Incidental Mutation 'R0938:Mob1b'
| ID |
81234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mob1b
|
| Ensembl Gene |
ENSMUSG00000006262 |
| Gene Name |
MOB kinase activator 1B |
| Synonyms |
1110003E08Rik, Mobkl1a |
| MMRRC Submission |
039077-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R0938 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
88868730-88906314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88897452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 120
(I120N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006424]
[ENSMUST00000113229]
|
| AlphaFold |
Q8BPB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006424
AA Change: I115N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006424
Gene: ENSMUSG00000006262
AA Change: I115N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mob1_phocein
|
29 |
205 |
1.2e-83 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113229
AA Change: I120N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108855
Gene: ENSMUSG00000006262
AA Change: I120N
| Domain | Start | End | E-Value | Type |
|---|
|
Mob1_phocein
|
31 |
209 |
2.18e-113 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155298
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 88.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit no abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcan |
A |
G |
3: 87,900,461 (GRCm39) |
S591P |
possibly damaging |
Het |
| Chfr |
T |
C |
5: 110,311,924 (GRCm39) |
L579P |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,464,865 (GRCm39) |
T439I |
probably benign |
Het |
| Dazap1 |
T |
C |
10: 80,116,795 (GRCm39) |
S165P |
possibly damaging |
Het |
| Dlx2 |
C |
A |
2: 71,375,012 (GRCm39) |
W284L |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,002,658 (GRCm39) |
N3803K |
probably benign |
Het |
| Dynlrb2 |
A |
C |
8: 117,241,707 (GRCm39) |
|
probably null |
Het |
| Fhl2 |
A |
G |
1: 43,180,866 (GRCm39) |
I108T |
possibly damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galnt18 |
T |
C |
7: 111,119,206 (GRCm39) |
I438M |
possibly damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Ifi204 |
A |
T |
1: 173,579,311 (GRCm39) |
N511K |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,389,476 (GRCm39) |
Y559* |
probably null |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Oosp2 |
G |
A |
19: 11,628,904 (GRCm39) |
Q66* |
probably null |
Het |
| P4ha2 |
A |
G |
11: 54,010,148 (GRCm39) |
K302E |
possibly damaging |
Het |
| Pard6g |
C |
T |
18: 80,123,259 (GRCm39) |
R98* |
probably null |
Het |
| Pkdrej |
G |
A |
15: 85,702,364 (GRCm39) |
P1191S |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Smim29 |
T |
C |
17: 27,783,368 (GRCm39) |
K43R |
possibly damaging |
Het |
| Ubap2 |
A |
C |
4: 41,202,304 (GRCm39) |
L708R |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,961,023 (GRCm39) |
V1204I |
probably benign |
Het |
| Zfp865 |
G |
T |
7: 5,034,403 (GRCm39) |
C796F |
possibly damaging |
Het |
| Zmiz2 |
A |
T |
11: 6,347,185 (GRCm39) |
M237L |
probably benign |
Het |
|
| Other mutations in Mob1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Mob1b
|
APN |
5 |
88,904,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01475:Mob1b
|
APN |
5 |
88,897,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02478:Mob1b
|
APN |
5 |
88,903,947 (GRCm39) |
splice site |
probably benign |
|
|
R0012:Mob1b
|
UTSW |
5 |
88,903,943 (GRCm39) |
splice site |
probably benign |
|
|
R0012:Mob1b
|
UTSW |
5 |
88,903,943 (GRCm39) |
splice site |
probably benign |
|
|
R1081:Mob1b
|
UTSW |
5 |
88,901,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3500:Mob1b
|
UTSW |
5 |
88,897,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3890:Mob1b
|
UTSW |
5 |
88,901,061 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3891:Mob1b
|
UTSW |
5 |
88,901,061 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3892:Mob1b
|
UTSW |
5 |
88,901,061 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7243:Mob1b
|
UTSW |
5 |
88,891,304 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7302:Mob1b
|
UTSW |
5 |
88,901,036 (GRCm39) |
missense |
probably benign |
|
|
R7782:Mob1b
|
UTSW |
5 |
88,897,542 (GRCm39) |
splice site |
probably null |
|
|
R8101:Mob1b
|
UTSW |
5 |
88,901,093 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9160:Mob1b
|
UTSW |
5 |
88,904,017 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGAAGTTAGTTCTCCCACTTCAGC -3'
(R):5'- TGGCCTCATCAATGCAGTCCCAAG -3'
Sequencing Primer
(F):5'- agggaaagaaaaagagaaagaaagg -3'
(R):5'- GAAACCACTCAAATGAGGACG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation