Incidental Mutation 'R8165:Lin54'
| ID |
633713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin54
|
| Ensembl Gene |
ENSMUSG00000035310 |
| Gene Name |
lin-54 DREAM MuvB core complex component |
| Synonyms |
|
| MMRRC Submission |
067591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R8165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
100589900-100648493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100602358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 393
(V393A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046154]
[ENSMUST00000123572]
[ENSMUST00000137750]
[ENSMUST00000139234]
[ENSMUST00000144030]
[ENSMUST00000149714]
[ENSMUST00000152387]
[ENSMUST00000154921]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046154
AA Change: V393A
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: V393A
| 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: V393A
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: V393A
| 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: ENSMUST00000137750
AA Change: V172A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310
AA Change: V172A
| 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 benign
Transcript: ENSMUST00000144030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149714
AA Change: V172A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310
AA Change: V172A
| 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
AA Change: V304A
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121902
Gene: ENSMUSG00000035310
AA Change: V304A
| 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
AA Change: V172A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310
AA Change: V172A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
C |
A |
5: 64,055,289 (GRCm39) |
|
probably null |
Het |
| Amph |
A |
G |
13: 19,279,007 (GRCm39) |
K161E |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,348,088 (GRCm39) |
H602L |
probably benign |
Het |
| Areg |
A |
G |
5: 91,291,492 (GRCm39) |
N145S |
probably damaging |
Het |
| Arhgap29 |
C |
T |
3: 121,782,222 (GRCm39) |
T142I |
probably damaging |
Het |
| Bcar3 |
C |
T |
3: 122,304,805 (GRCm39) |
|
probably benign |
Het |
| Brpf3 |
C |
T |
17: 29,025,248 (GRCm39) |
A107V |
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,587,682 (GRCm39) |
S509T |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,402,653 (GRCm39) |
|
probably null |
Het |
| Casz1 |
C |
T |
4: 149,028,888 (GRCm39) |
P1111L |
probably damaging |
Het |
| Ccdc91 |
C |
T |
6: 147,533,086 (GRCm39) |
T411I |
unknown |
Het |
| Chd9 |
A |
C |
8: 91,767,769 (GRCm39) |
E2422A |
probably damaging |
Het |
| Clrn3 |
T |
C |
7: 135,130,133 (GRCm39) |
I34V |
probably benign |
Het |
| Cnksr3 |
C |
T |
10: 7,104,467 (GRCm39) |
D79N |
probably damaging |
Het |
| Cops8 |
A |
G |
1: 90,539,729 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
A |
G |
6: 30,564,345 (GRCm39) |
K392R |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
| Dnase1l3 |
T |
C |
14: 7,994,299 (GRCm38) |
|
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,105,689 (GRCm39) |
T502S |
probably benign |
Het |
| Gp2 |
A |
T |
7: 119,049,375 (GRCm39) |
D387E |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,242,364 (GRCm39) |
L160P |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,522,409 (GRCm39) |
T3497M |
probably benign |
Het |
| Idh3b |
T |
A |
2: 130,122,420 (GRCm39) |
T322S |
possibly damaging |
Het |
| Kit |
A |
T |
5: 75,781,540 (GRCm39) |
N323I |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,806,246 (GRCm39) |
S445G |
unknown |
Het |
| Lyst |
T |
A |
13: 13,872,945 (GRCm39) |
W2715R |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
| Med7 |
T |
A |
11: 46,332,073 (GRCm39) |
C223S |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,053,298 (GRCm39) |
L1823Q |
probably damaging |
Het |
| Mga |
C |
A |
2: 119,777,719 (GRCm39) |
Q1755K |
probably benign |
Het |
| Mgat4b |
A |
T |
11: 50,101,801 (GRCm39) |
N22I |
probably benign |
Het |
| Ndufb6 |
C |
T |
4: 40,270,665 (GRCm39) |
|
probably null |
Het |
| Neil3 |
A |
G |
8: 54,042,129 (GRCm39) |
L490P |
probably benign |
Het |
| Nek9 |
C |
T |
12: 85,350,417 (GRCm39) |
V886I |
probably benign |
Het |
| Nol4l |
A |
T |
2: 153,262,473 (GRCm39) |
Y366* |
probably null |
Het |
| Nt5dc2 |
A |
G |
14: 30,860,886 (GRCm39) |
T354A |
probably damaging |
Het |
| Or1j11 |
T |
A |
2: 36,311,715 (GRCm39) |
Y102N |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,149,655 (GRCm39) |
|
probably null |
Het |
| Phf1 |
T |
C |
17: 27,156,044 (GRCm39) |
F444L |
possibly damaging |
Het |
| Plin4 |
G |
A |
17: 56,414,019 (GRCm39) |
T202I |
possibly damaging |
Het |
| Plk4 |
G |
C |
3: 40,768,009 (GRCm39) |
V851L |
probably damaging |
Het |
| Pp2d1 |
A |
G |
17: 53,822,257 (GRCm39) |
S270P |
probably damaging |
Het |
| Ripor1 |
C |
A |
8: 106,347,520 (GRCm39) |
L1028M |
unknown |
Het |
| Scn9a |
A |
G |
2: 66,370,874 (GRCm39) |
F569L |
probably damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,104,626 (GRCm39) |
L306F |
probably damaging |
Het |
| Spic |
A |
T |
10: 88,513,428 (GRCm39) |
S86T |
probably damaging |
Het |
| Spmip10 |
T |
A |
18: 56,722,547 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,836,668 (GRCm39) |
N278S |
probably benign |
Het |
| Taar7d |
T |
A |
10: 23,903,495 (GRCm39) |
F126I |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,824,345 (GRCm39) |
E869G |
possibly damaging |
Het |
| Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
| Terf2 |
T |
C |
8: 107,809,656 (GRCm39) |
K221E |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,468,962 (GRCm39) |
T539S |
|
Het |
| Tll2 |
A |
G |
19: 41,077,313 (GRCm39) |
F818L |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,200,959 (GRCm39) |
T427A |
possibly damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,952 (GRCm39) |
Q1419K |
possibly damaging |
Het |
| Vill |
T |
A |
9: 118,895,821 (GRCm39) |
F511Y |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,542,128 (GRCm39) |
D1521E |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,766,072 (GRCm39) |
D63G |
probably benign |
Het |
| Vrk2 |
A |
G |
11: 26,485,575 (GRCm39) |
F138L |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,357,032 (GRCm39) |
F753I |
possibly 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 |
|
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 |
|
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'- GGCTGGCTGGTAGTTACAA -3'
(R):5'- CCTCAGATTCATATTGCTGGGG -3'
Sequencing Primer
(F):5'- AAGTCTGACTCAGAGATCTGCCTG -3'
(R):5'- ACTCATTATGTAAGTCAGGCTGGCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation