Incidental Mutation 'R4238:Lin54'
| ID |
321204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin54
|
| Ensembl Gene |
ENSMUSG00000035310 |
| Gene Name |
lin-54 DREAM MuvB core complex component |
| Synonyms |
|
| MMRRC Submission |
041055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R4238 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
100589900-100648493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100623603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 78
(S78L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046154]
[ENSMUST00000123572]
[ENSMUST00000137750]
[ENSMUST00000139234]
[ENSMUST00000144030]
[ENSMUST00000149714]
[ENSMUST00000154921]
[ENSMUST00000152387]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046154
AA Change: S299L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: S299L
| 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: S299L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: S299L
| 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: ENSMUST00000134439
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137750
AA Change: S78L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310
AA Change: S78L
| 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: ENSMUST00000139234
|
| SMART Domains |
Protein: ENSMUSP00000119322
Gene: ENSMUSG00000035310
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
218 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144030
AA Change: S78L
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149714
AA Change: S78L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310
AA Change: S78L
| 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: ENSMUST00000154921
AA Change: S78L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310
AA Change: S78L
| 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: ENSMUST00000152387
|
| SMART Domains |
Protein: ENSMUSP00000121902
Gene: ENSMUSG00000035310
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| Aar2 |
A |
G |
2: 156,393,064 (GRCm39) |
E151G |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,217,669 (GRCm39) |
D125G |
probably null |
Het |
| Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,423,424 (GRCm39) |
F87S |
probably damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Cndp1 |
G |
T |
18: 84,636,342 (GRCm39) |
H391N |
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,818 (GRCm39) |
D609G |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,841,523 (GRCm39) |
I1574V |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Gpr158 |
G |
T |
2: 21,373,362 (GRCm39) |
C99F |
probably damaging |
Het |
| Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| Igkv12-44 |
A |
G |
6: 69,791,868 (GRCm39) |
S32P |
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
| Lzts1 |
G |
T |
8: 69,588,579 (GRCm39) |
A459E |
possibly damaging |
Het |
| Mlf1 |
G |
A |
3: 67,291,910 (GRCm39) |
S25N |
probably benign |
Het |
| Mrgprx2 |
C |
A |
7: 48,132,738 (GRCm39) |
V27L |
probably benign |
Het |
| Myof |
T |
A |
19: 37,911,456 (GRCm39) |
R1505* |
probably null |
Het |
| Or4k15 |
T |
C |
14: 50,364,889 (GRCm39) |
V285A |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
T |
7: 18,418,434 (GRCm39) |
V111D |
probably damaging |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Simc1 |
C |
G |
13: 54,674,073 (GRCm39) |
S807* |
probably null |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Snrpa |
A |
T |
7: 26,892,293 (GRCm39) |
|
probably null |
Het |
| Sval2 |
T |
A |
6: 41,837,283 (GRCm39) |
L4H |
probably damaging |
Het |
| Tax1bp1 |
C |
T |
6: 52,743,036 (GRCm39) |
Q808* |
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,754,962 (GRCm39) |
Y345H |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,954,340 (GRCm39) |
L853P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,956,002 (GRCm39) |
R1155G |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,851,297 (GRCm39) |
E739G |
probably damaging |
Het |
| Zfp433 |
A |
C |
10: 81,556,046 (GRCm39) |
T182P |
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 |
|
|
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 |
|
R4533:Lin54
|
UTSW |
5 |
100,633,262 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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'- AGTACCTATTGATAACTGCTTAGGG -3'
(R):5'- TTCATTAGGGTCACACTGGTG -3'
Sequencing Primer
(F):5'- GCATTTGGGGCTCATTTTC -3'
(R):5'- GGTCACACTGGTGTCTCTAAAGTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation