Incidental Mutation 'R4533:Lin54'
| ID |
333191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin54
|
| Ensembl Gene |
ENSMUSG00000035310 |
| Gene Name |
lin-54 DREAM MuvB core complex component |
| Synonyms |
|
| MMRRC Submission |
041773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R4533 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
100589900-100648493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100633262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 141
(I141V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046154]
[ENSMUST00000123572]
[ENSMUST00000137750]
[ENSMUST00000139234]
[ENSMUST00000144030]
[ENSMUST00000152387]
[ENSMUST00000154921]
[ENSMUST00000149714]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046154
AA Change: I141V
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: I141V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
364 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
419 |
N/A |
INTRINSIC |
|
CXC
|
520 |
560 |
3.06e-15 |
SMART |
|
CXC
|
594 |
635 |
1.84e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123572
AA Change: I141V
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: I141V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
364 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
419 |
N/A |
INTRINSIC |
|
CXC
|
520 |
560 |
3.06e-15 |
SMART |
|
CXC
|
594 |
635 |
1.84e-18 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134439
AA Change: I3V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137750
|
| SMART Domains |
Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
CXC
|
299 |
339 |
3.06e-15 |
SMART |
|
CXC
|
373 |
414 |
1.84e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139234
AA Change: I141V
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119322
Gene: ENSMUSG00000035310
AA Change: I141V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
218 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144030
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144716
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152387
AA Change: I141V
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121902
Gene: ENSMUSG00000035310
AA Change: I141V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
218 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
330 |
N/A |
INTRINSIC |
|
CXC
|
431 |
471 |
3.06e-15 |
SMART |
|
CXC
|
505 |
546 |
1.84e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154921
|
| SMART Domains |
Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
CXC
|
299 |
339 |
3.06e-15 |
SMART |
|
CXC
|
373 |
414 |
1.84e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149714
|
| SMART Domains |
Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
CXC
|
299 |
339 |
3.06e-15 |
SMART |
|
CXC
|
373 |
414 |
1.84e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.0600 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,062,761 (GRCm39) |
Y405C |
probably damaging |
Het |
| Ago3 |
A |
T |
4: 126,239,356 (GRCm39) |
S832T |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,929,798 (GRCm39) |
E561G |
possibly damaging |
Het |
| Art5 |
T |
C |
7: 101,747,545 (GRCm39) |
H78R |
probably benign |
Het |
| Blvra |
T |
A |
2: 126,932,304 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
A |
G |
4: 83,575,579 (GRCm39) |
T488A |
possibly damaging |
Het |
| Crtc3 |
A |
T |
7: 80,239,543 (GRCm39) |
M603K |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,981,037 (GRCm39) |
|
probably null |
Het |
| Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm7356 |
A |
C |
17: 14,221,672 (GRCm39) |
I119R |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,449,392 (GRCm39) |
D1963E |
probably benign |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,147 (GRCm39) |
V21D |
probably damaging |
Het |
| Itga3 |
T |
G |
11: 94,948,119 (GRCm39) |
Q602P |
probably benign |
Het |
| Kcmf1 |
G |
A |
6: 72,826,574 (GRCm39) |
R152C |
probably damaging |
Het |
| Mast1 |
T |
A |
8: 85,647,990 (GRCm39) |
H497L |
probably damaging |
Het |
| Mrpl44 |
T |
C |
1: 79,753,971 (GRCm39) |
F41S |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,840,891 (GRCm39) |
R2301G |
probably damaging |
Het |
| Nek1 |
A |
T |
8: 61,460,247 (GRCm39) |
M58L |
possibly damaging |
Het |
| Or4k15c |
T |
C |
14: 50,321,156 (GRCm39) |
|
probably null |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,831,371 (GRCm39) |
V338A |
possibly damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcdha7 |
T |
C |
18: 37,108,460 (GRCm39) |
V495A |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,933,640 (GRCm39) |
E895G |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,516,057 (GRCm39) |
E770G |
probably damaging |
Het |
| Ptchd3 |
C |
T |
11: 121,727,257 (GRCm39) |
S377F |
probably damaging |
Het |
| Ptprj |
C |
T |
2: 90,270,299 (GRCm39) |
D1266N |
probably damaging |
Het |
| Raly |
A |
T |
2: 154,707,853 (GRCm39) |
E291V |
probably damaging |
Het |
| Rnf217 |
C |
A |
10: 31,484,759 (GRCm39) |
C141F |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,714 (GRCm39) |
M914V |
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,547 (GRCm39) |
T1035A |
probably damaging |
Het |
| Tex14 |
C |
T |
11: 87,427,655 (GRCm39) |
R36* |
probably null |
Het |
| Tiparp |
A |
G |
3: 65,453,768 (GRCm39) |
D172G |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,970,994 (GRCm39) |
I466N |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,772,963 (GRCm39) |
T426A |
possibly damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,756 (GRCm39) |
H177Q |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
| Vwc2l |
G |
A |
1: 70,921,298 (GRCm39) |
C151Y |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,117,354 (GRCm39) |
Y414C |
probably benign |
Het |
| Zfp609 |
A |
C |
9: 65,610,890 (GRCm39) |
V691G |
probably benign |
Het |
| Zmiz1 |
T |
C |
14: 25,646,084 (GRCm39) |
Y254H |
probably damaging |
Het |
|
| Other mutations in Lin54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01286:Lin54
|
APN |
5 |
100,633,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01356:Lin54
|
APN |
5 |
100,601,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02931:Lin54
|
APN |
5 |
100,628,180 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03089:Lin54
|
APN |
5 |
100,598,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03095:Lin54
|
APN |
5 |
100,602,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03202:Lin54
|
APN |
5 |
100,623,673 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0505:Lin54
|
UTSW |
5 |
100,600,152 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1138:Lin54
|
UTSW |
5 |
100,591,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1540:Lin54
|
UTSW |
5 |
100,628,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1719:Lin54
|
UTSW |
5 |
100,633,108 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1991:Lin54
|
UTSW |
5 |
100,633,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2698:Lin54
|
UTSW |
5 |
100,628,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3738:Lin54
|
UTSW |
5 |
100,607,665 (GRCm39) |
splice site |
probably benign |
|
|
R4238:Lin54
|
UTSW |
5 |
100,623,603 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R4424:Lin54
|
UTSW |
5 |
100,594,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4529:Lin54
|
UTSW |
5 |
100,594,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4530:Lin54
|
UTSW |
5 |
100,594,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4531:Lin54
|
UTSW |
5 |
100,594,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4532:Lin54
|
UTSW |
5 |
100,594,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4665:Lin54
|
UTSW |
5 |
100,600,943 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4784:Lin54
|
UTSW |
5 |
100,607,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4785:Lin54
|
UTSW |
5 |
100,607,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5252:Lin54
|
UTSW |
5 |
100,628,063 (GRCm39) |
missense |
probably benign |
|
|
R5265:Lin54
|
UTSW |
5 |
100,633,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6545:Lin54
|
UTSW |
5 |
100,632,996 (GRCm39) |
splice site |
probably null |
|
|
R7150:Lin54
|
UTSW |
5 |
100,633,159 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7544:Lin54
|
UTSW |
5 |
100,633,129 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8165:Lin54
|
UTSW |
5 |
100,602,358 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8767:Lin54
|
UTSW |
5 |
100,600,884 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8940:Lin54
|
UTSW |
5 |
100,594,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Lin54
|
UTSW |
5 |
100,598,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Lin54
|
UTSW |
5 |
100,602,302 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0026:Lin54
|
UTSW |
5 |
100,598,858 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1189:Lin54
|
UTSW |
5 |
100,607,640 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAGTGCTGAGACACCAATG -3'
(R):5'- CCACACTAACCAAGTTGCAGTG -3'
Sequencing Primer
(F):5'- GCTGAGACACCAATGACAGGTTTC -3'
(R):5'- GTGAATACCACAGTTTCTAAAGCAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation