Incidental Mutation 'IGL02931:Lin54'
| ID |
364117 |
| 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: 0.958)
|
| Stock # |
IGL02931
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
100589900-100648493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100628180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 8
(I8V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121137
(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: I229V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: I229V
| 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: I229V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: I229V
| 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: I91V
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137750
AA Change: I8V
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310
AA Change: I8V
| 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: I8V
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144716
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154921
AA Change: I8V
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310
AA Change: I8V
| 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: ENSMUST00000149714
AA Change: I8V
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310
AA Change: I8V
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
G |
A |
11: 7,029,012 (GRCm39) |
R254Q |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,833 (GRCm39) |
Y269C |
probably damaging |
Het |
| Apol7a |
C |
A |
15: 77,277,650 (GRCm39) |
E33* |
probably null |
Het |
| Arhgap29 |
T |
C |
3: 121,786,509 (GRCm39) |
V358A |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,728 (GRCm39) |
S148P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,740,779 (GRCm39) |
N60D |
possibly damaging |
Het |
| Bcl9l |
C |
T |
9: 44,412,047 (GRCm39) |
P11L |
probably damaging |
Het |
| Ccdc89 |
A |
C |
7: 90,076,110 (GRCm39) |
K107Q |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,249,663 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,424,225 (GRCm39) |
D1067G |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,910,389 (GRCm39) |
R511S |
probably benign |
Het |
| Disp3 |
G |
A |
4: 148,333,658 (GRCm39) |
S1060F |
possibly damaging |
Het |
| Dusp8 |
T |
C |
7: 141,636,667 (GRCm39) |
T308A |
probably benign |
Het |
| Ern1 |
T |
C |
11: 106,314,266 (GRCm39) |
N178S |
probably damaging |
Het |
| Gas6 |
C |
A |
8: 13,527,136 (GRCm39) |
C204F |
probably damaging |
Het |
| Gga1 |
T |
C |
15: 78,777,522 (GRCm39) |
S558P |
possibly damaging |
Het |
| Gli1 |
T |
C |
10: 127,168,279 (GRCm39) |
T525A |
probably benign |
Het |
| Gse1 |
A |
G |
8: 121,304,808 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,532,958 (GRCm39) |
S3075L |
probably benign |
Het |
| Hnf4a |
G |
A |
2: 163,408,037 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
T |
5: 35,034,097 (GRCm39) |
E1894D |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,263,650 (GRCm39) |
E716K |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,937,874 (GRCm39) |
Y1524C |
probably damaging |
Het |
| Krtap9-5 |
A |
G |
11: 99,839,931 (GRCm39) |
T211A |
unknown |
Het |
| Lipe |
A |
G |
7: 25,082,760 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,545,678 (GRCm39) |
V508E |
probably damaging |
Het |
| Lrrc9 |
C |
A |
12: 72,500,923 (GRCm39) |
H216Q |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,709 (GRCm39) |
L169P |
probably damaging |
Het |
| Map9 |
C |
A |
3: 82,284,428 (GRCm39) |
T334K |
possibly damaging |
Het |
| Msantd5f1 |
G |
A |
4: 73,605,602 (GRCm39) |
A338T |
probably damaging |
Het |
| Mst1 |
A |
T |
9: 107,961,841 (GRCm39) |
|
probably null |
Het |
| Mtor |
T |
A |
4: 148,549,421 (GRCm39) |
F602I |
probably benign |
Het |
| Mylpf |
T |
A |
7: 126,812,798 (GRCm39) |
D98E |
probably benign |
Het |
| Naca |
C |
A |
10: 127,883,551 (GRCm39) |
Q2059K |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,891,356 (GRCm39) |
T421I |
possibly damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,348,940 (GRCm38) |
|
noncoding transcript |
Het |
| Npat |
C |
T |
9: 53,482,341 (GRCm39) |
Q1350* |
probably null |
Het |
| Oaz3 |
T |
C |
3: 94,342,287 (GRCm39) |
N123S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,299,410 (GRCm39) |
|
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,336,923 (GRCm39) |
F280L |
probably benign |
Het |
| Piezo1 |
A |
C |
8: 123,210,258 (GRCm39) |
D2224E |
probably damaging |
Het |
| Pnpla7 |
A |
T |
2: 24,905,241 (GRCm39) |
I610F |
possibly damaging |
Het |
| Psapl1 |
A |
T |
5: 36,362,233 (GRCm39) |
D275V |
probably damaging |
Het |
| Ptpdc1 |
T |
A |
13: 48,744,095 (GRCm39) |
|
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,454,947 (GRCm39) |
E31G |
possibly damaging |
Het |
| Sdhc |
T |
C |
1: 170,971,124 (GRCm39) |
|
probably benign |
Het |
| Smim23 |
G |
T |
11: 32,770,667 (GRCm39) |
P80T |
probably damaging |
Het |
| Snupn |
C |
T |
9: 56,864,364 (GRCm39) |
T21I |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,073,996 (GRCm39) |
V1097A |
probably benign |
Het |
| Ttc16 |
A |
G |
2: 32,661,939 (GRCm39) |
Y164H |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,730 (GRCm39) |
E296G |
probably damaging |
Het |
| Ube2l6 |
G |
A |
2: 84,633,195 (GRCm39) |
V34M |
probably damaging |
Het |
| Vwf |
A |
C |
6: 125,592,931 (GRCm39) |
S764R |
possibly damaging |
Het |
| Zfand3 |
A |
G |
17: 30,411,611 (GRCm39) |
S146G |
probably benign |
Het |
| Zfp280d |
T |
G |
9: 72,203,307 (GRCm39) |
F18L |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation