Incidental Mutation 'IGL03202:Lin54'
ID |
413009 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lin54
|
Ensembl Gene |
ENSMUSG00000035310 |
Gene Name |
lin-54 DREAM MuvB core complex component |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
IGL03202
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
100589900-100648493 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100623673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 55
(S55P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046154]
[ENSMUST00000123572]
[ENSMUST00000137750]
[ENSMUST00000139234]
[ENSMUST00000144030]
[ENSMUST00000154921]
[ENSMUST00000149714]
[ENSMUST00000152387]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046154
AA Change: S276P
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000041374 Gene: ENSMUSG00000035310 AA Change: S276P
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: S276P
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000123425 Gene: ENSMUSG00000035310 AA Change: S276P
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 |
silent
Transcript: ENSMUST00000134439
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137750
AA Change: S55P
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000120644 Gene: ENSMUSG00000035310 AA Change: S55P
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 |
silent
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: S55P
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154921
AA Change: S55P
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000121137 Gene: ENSMUSG00000035310 AA Change: S55P
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
AA Change: S55P
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000123544 Gene: ENSMUSG00000035310 AA Change: S55P
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 86,909,911 (GRCm39) |
M1T |
probably null |
Het |
Ace |
T |
A |
11: 105,867,788 (GRCm39) |
I168N |
probably damaging |
Het |
Actr10 |
T |
G |
12: 70,987,605 (GRCm39) |
C37W |
probably damaging |
Het |
Atp10b |
T |
C |
11: 43,125,268 (GRCm39) |
|
probably null |
Het |
Bend5 |
A |
G |
4: 111,290,441 (GRCm39) |
N146D |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,541,124 (GRCm39) |
F1347L |
probably damaging |
Het |
Crybg3 |
T |
A |
16: 59,315,072 (GRCm39) |
I2910F |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,805,023 (GRCm39) |
S1945P |
possibly damaging |
Het |
Cxcr4 |
T |
G |
1: 128,516,641 (GRCm39) |
K340T |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,121,683 (GRCm39) |
Y1433F |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,231,101 (GRCm39) |
V77A |
probably damaging |
Het |
Fscn3 |
A |
T |
6: 28,434,451 (GRCm39) |
H342L |
probably benign |
Het |
Gm9843 |
T |
C |
16: 76,200,234 (GRCm39) |
|
noncoding transcript |
Het |
Hdac9 |
T |
C |
12: 34,423,950 (GRCm39) |
E520G |
probably damaging |
Het |
Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
Itpa |
T |
A |
2: 130,509,859 (GRCm39) |
|
probably benign |
Het |
Lce1l |
A |
T |
3: 92,757,631 (GRCm39) |
C76S |
unknown |
Het |
Lrrc37 |
T |
A |
11: 103,506,199 (GRCm39) |
E1923V |
probably benign |
Het |
Mtfmt |
C |
A |
9: 65,356,008 (GRCm39) |
P303Q |
probably damaging |
Het |
Nae1 |
A |
T |
8: 105,244,811 (GRCm39) |
|
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,983,011 (GRCm39) |
|
probably benign |
Het |
Or13a19 |
A |
G |
7: 139,903,019 (GRCm39) |
M136V |
possibly damaging |
Het |
Or1e22 |
G |
A |
11: 73,377,351 (GRCm39) |
Q100* |
probably null |
Het |
Pcnx2 |
A |
C |
8: 126,498,783 (GRCm39) |
I1572S |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,144,669 (GRCm39) |
Y2809N |
probably damaging |
Het |
Pygl |
G |
T |
12: 70,246,420 (GRCm39) |
Q376K |
probably benign |
Het |
Resf1 |
G |
A |
6: 149,227,937 (GRCm39) |
V328I |
probably benign |
Het |
Rrp12 |
T |
C |
19: 41,857,205 (GRCm39) |
|
probably null |
Het |
Sephs1 |
A |
T |
2: 4,894,074 (GRCm39) |
I92F |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,836,692 (GRCm39) |
F101L |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,915,375 (GRCm39) |
I2053T |
probably damaging |
Het |
Tgfbr3 |
T |
G |
5: 107,257,630 (GRCm39) |
|
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,691,319 (GRCm39) |
Y401* |
probably null |
Het |
Vmn2r87 |
A |
G |
10: 130,333,091 (GRCm39) |
M53T |
probably benign |
Het |
Zfp941 |
A |
G |
7: 140,392,966 (GRCm39) |
V131A |
probably benign |
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 |
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 |
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 |
|
|
Posted On |
2016-08-02 |