Incidental Mutation 'R2698:Lin54'
| ID |
251299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin54
|
| Ensembl Gene |
ENSMUSG00000035310 |
| Gene Name |
lin-54 DREAM MuvB core complex component |
| Synonyms |
|
| MMRRC Submission |
040436-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R2698 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
100589900-100648493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100628109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 31
(N31K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000046154
AA Change: N252K
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: N252K
| 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 |
possibly damaging
Transcript: ENSMUST00000123572
AA Change: N252K
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: N252K
| 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: N114K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137750
AA Change: N31K
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310
AA Change: N31K
| 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 |
probably damaging
Transcript: ENSMUST00000144030
AA Change: N31K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144716
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149714
AA Change: N31K
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310
AA Change: N31K
| 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: N31K
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310
AA Change: N31K
| 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 |
0.0638 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,578,862 (GRCm39) |
R901G |
possibly damaging |
Het |
| Abhd18 |
T |
A |
3: 40,885,401 (GRCm39) |
M262K |
probably benign |
Het |
| Ano2 |
C |
A |
6: 125,689,309 (GRCm39) |
L145I |
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,408,426 (GRCm39) |
W874R |
probably damaging |
Het |
| Cox4i1 |
G |
T |
8: 121,396,102 (GRCm39) |
|
probably benign |
Het |
| Cwc27 |
A |
T |
13: 104,943,259 (GRCm39) |
N94K |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,804,342 (GRCm39) |
S372P |
probably damaging |
Het |
| Dpysl4 |
A |
G |
7: 138,676,681 (GRCm39) |
N356S |
probably damaging |
Het |
| Dusp8 |
A |
G |
7: 141,635,701 (GRCm39) |
|
probably benign |
Het |
| Erc2 |
G |
A |
14: 27,993,662 (GRCm39) |
V894M |
probably benign |
Het |
| Fbxo28 |
T |
A |
1: 182,144,719 (GRCm39) |
I282F |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,729,421 (GRCm39) |
H453R |
probably benign |
Het |
| Glrx |
T |
A |
13: 75,988,065 (GRCm39) |
|
probably null |
Het |
| Gm11541 |
A |
T |
11: 94,586,441 (GRCm39) |
L102* |
probably null |
Het |
| Gm5113 |
T |
A |
7: 29,878,150 (GRCm39) |
Y79* |
probably null |
Het |
| Gpr87 |
T |
A |
3: 59,086,587 (GRCm39) |
N306I |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,336,561 (GRCm39) |
Y5113N |
possibly damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,390,430 (GRCm39) |
|
probably benign |
Het |
| Kbtbd8 |
C |
A |
6: 95,103,570 (GRCm39) |
Y406* |
probably null |
Het |
| Lamb1 |
G |
T |
12: 31,348,882 (GRCm39) |
R590L |
probably benign |
Het |
| Lnpk |
T |
C |
2: 74,367,845 (GRCm39) |
E165G |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,305,557 (GRCm39) |
R276C |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,841,028 (GRCm39) |
T1384S |
probably benign |
Het |
| Mia2 |
T |
C |
12: 59,217,780 (GRCm39) |
|
probably null |
Het |
| Morc2a |
T |
C |
11: 3,635,400 (GRCm39) |
V797A |
probably damaging |
Het |
| Mrps23 |
T |
C |
11: 88,096,193 (GRCm39) |
|
probably benign |
Het |
| Muc17 |
A |
T |
5: 137,175,484 (GRCm39) |
I62K |
probably damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,349,630 (GRCm38) |
|
noncoding transcript |
Het |
| Nptx1 |
A |
T |
11: 119,435,669 (GRCm39) |
|
probably benign |
Het |
| Or1j20 |
T |
A |
2: 36,760,208 (GRCm39) |
I210K |
possibly damaging |
Het |
| Pabpc1l |
T |
G |
2: 163,886,302 (GRCm39) |
|
probably null |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,575 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,250,349 (GRCm39) |
Q230R |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,824,282 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptch1 |
T |
A |
13: 63,690,038 (GRCm39) |
N320Y |
probably damaging |
Het |
| Qars1 |
G |
A |
9: 108,385,642 (GRCm39) |
V60I |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rhag |
T |
C |
17: 41,147,367 (GRCm39) |
S410P |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,300,970 (GRCm39) |
K297E |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,814,720 (GRCm39) |
E294G |
probably benign |
Het |
| Scaf4 |
T |
A |
16: 90,041,244 (GRCm39) |
I695F |
unknown |
Het |
| Scrn2 |
T |
C |
11: 96,923,122 (GRCm39) |
|
probably benign |
Het |
| Scx |
T |
A |
15: 76,342,363 (GRCm39) |
C188S |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 142,197,805 (GRCm39) |
V1893L |
possibly damaging |
Het |
| Sema5a |
C |
A |
15: 32,673,546 (GRCm39) |
Q795K |
probably damaging |
Het |
| Slc24a3 |
A |
G |
2: 145,455,487 (GRCm39) |
S459G |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,820,372 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
T |
C |
10: 23,837,328 (GRCm39) |
Y313H |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,419,322 (GRCm39) |
F79S |
probably damaging |
Het |
| Tnfaip8l2 |
T |
A |
3: 95,047,672 (GRCm39) |
I64F |
possibly damaging |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,372 (GRCm39) |
T102A |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,976,222 (GRCm39) |
N160K |
probably damaging |
Het |
| Ttc22 |
A |
G |
4: 106,496,435 (GRCm39) |
Y495C |
probably benign |
Het |
| Usp50 |
A |
G |
2: 126,619,949 (GRCm39) |
I121T |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,885 (GRCm39) |
S780P |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,607 (GRCm39) |
V601D |
probably damaging |
Het |
| Wapl |
G |
A |
14: 34,413,734 (GRCm39) |
A199T |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,222,969 (GRCm39) |
T415A |
possibly damaging |
Het |
| Zfp760 |
C |
T |
17: 21,939,935 (GRCm39) |
T9I |
probably damaging |
Het |
| Zfp998 |
A |
G |
13: 66,581,495 (GRCm39) |
S59P |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGGACTATGATTATTTTGTGTGT -3'
(R):5'- TAAATGACCTGACTTTACTGTACTACT -3'
Sequencing Primer
(F):5'- ATTGAACTCAGGACCTTCGG -3'
(R):5'- ACTGTGTATGAATGAATGCTGTCTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation