Incidental Mutation 'R7150:Lin54'
ID |
554050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lin54
|
Ensembl Gene |
ENSMUSG00000035310 |
Gene Name |
lin-54 DREAM MuvB core complex component |
Synonyms |
|
MMRRC Submission |
045252-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R7150 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
100589900-100648493 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100633159 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 175
(D175G)
|
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 |
possibly damaging
Transcript: ENSMUST00000046154
AA Change: D175G
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000041374 Gene: ENSMUSG00000035310 AA Change: D175G
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: D175G
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000123425 Gene: ENSMUSG00000035310 AA Change: D175G
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 damaging
Transcript: ENSMUST00000134439
AA Change: D37G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137750
|
SMART Domains |
Protein: ENSMUSP00000120644 Gene: ENSMUSG00000035310
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 damaging
Transcript: ENSMUST00000139234
AA Change: D175G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119322 Gene: ENSMUSG00000035310 AA Change: D175G
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
|
SMART Domains |
Protein: ENSMUSP00000123544 Gene: ENSMUSG00000035310
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 damaging
Transcript: ENSMUST00000152387
AA Change: D175G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121902 Gene: ENSMUSG00000035310 AA Change: D175G
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
|
SMART Domains |
Protein: ENSMUSP00000121137 Gene: ENSMUSG00000035310
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: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (59/60) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
T |
C |
8: 125,589,653 (GRCm39) |
D20G |
possibly damaging |
Het |
5430401F13Rik |
T |
C |
6: 131,529,630 (GRCm39) |
S75P |
probably benign |
Het |
Acad8 |
A |
T |
9: 26,889,750 (GRCm39) |
F315I |
probably damaging |
Het |
Adcy5 |
A |
G |
16: 35,118,904 (GRCm39) |
Y1085C |
probably damaging |
Het |
Aldh1a7 |
T |
C |
19: 20,693,382 (GRCm39) |
K179R |
probably damaging |
Het |
Arhgap10 |
C |
T |
8: 77,977,583 (GRCm39) |
G776R |
probably damaging |
Het |
Arhgap35 |
A |
C |
7: 16,296,491 (GRCm39) |
F858C |
probably damaging |
Het |
Ash1l |
C |
T |
3: 88,984,381 (GRCm39) |
R2957W |
probably damaging |
Het |
Atp6ap1l |
G |
T |
13: 91,031,848 (GRCm39) |
A278E |
probably damaging |
Het |
Btn1a1 |
A |
T |
13: 23,643,521 (GRCm39) |
D309E |
probably damaging |
Het |
Casd1 |
C |
T |
6: 4,624,211 (GRCm39) |
R335C |
probably benign |
Het |
Ceacam3 |
A |
G |
7: 16,885,487 (GRCm39) |
Q30R |
|
Het |
Cfap20 |
C |
T |
8: 96,148,795 (GRCm39) |
C119Y |
probably damaging |
Het |
Cntrl |
A |
T |
2: 35,055,457 (GRCm39) |
|
probably null |
Het |
Crot |
A |
G |
5: 9,037,878 (GRCm39) |
V146A |
probably damaging |
Het |
Cx3cl1 |
A |
G |
8: 95,506,591 (GRCm39) |
S199G |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,895,263 (GRCm39) |
L69Q |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,583,689 (GRCm39) |
F3195L |
probably damaging |
Het |
Dpy19l3 |
A |
T |
7: 35,408,055 (GRCm39) |
D450E |
probably benign |
Het |
Ercc3 |
A |
T |
18: 32,390,325 (GRCm39) |
N538I |
probably damaging |
Het |
Fzd1 |
A |
T |
5: 4,806,145 (GRCm39) |
V479E |
probably benign |
Het |
Gart |
T |
C |
16: 91,425,351 (GRCm39) |
Y638C |
possibly damaging |
Het |
Gm2381 |
C |
A |
7: 42,469,888 (GRCm39) |
V79L |
probably benign |
Het |
Gucy1b1 |
T |
C |
3: 81,950,469 (GRCm39) |
Y312C |
probably damaging |
Het |
Hecw1 |
T |
A |
13: 14,609,045 (GRCm39) |
M1L |
probably benign |
Het |
Ip6k2 |
A |
G |
9: 108,673,930 (GRCm39) |
I99V |
unknown |
Het |
Itgb5 |
C |
T |
16: 33,761,013 (GRCm39) |
T616I |
probably benign |
Het |
Kmt2c |
A |
C |
5: 25,505,360 (GRCm39) |
V3316G |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,601,346 (GRCm39) |
R1008C |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,318,395 (GRCm39) |
S2019P |
probably damaging |
Het |
Lrrc9 |
A |
G |
12: 72,513,726 (GRCm39) |
E528G |
probably benign |
Het |
Lyz3 |
T |
C |
10: 117,073,647 (GRCm39) |
N62S |
probably benign |
Het |
Mto1 |
A |
G |
9: 78,364,565 (GRCm39) |
H299R |
probably damaging |
Het |
Myo19 |
G |
A |
11: 84,796,439 (GRCm39) |
G684R |
probably benign |
Het |
Or14c45 |
A |
C |
7: 86,176,322 (GRCm39) |
D119A |
probably damaging |
Het |
Or7g32 |
A |
T |
9: 19,408,145 (GRCm39) |
M34L |
probably benign |
Het |
Pcdh18 |
C |
A |
3: 49,709,143 (GRCm39) |
C724F |
probably benign |
Het |
Pcdha3 |
A |
T |
18: 37,080,165 (GRCm39) |
K302N |
probably benign |
Het |
Pcdhgb2 |
T |
C |
18: 37,825,300 (GRCm39) |
F764L |
possibly damaging |
Het |
Pik3cb |
C |
A |
9: 98,975,143 (GRCm39) |
G246W |
probably damaging |
Het |
Polr2m |
A |
T |
9: 71,390,626 (GRCm39) |
I192N |
probably damaging |
Het |
Polr2m |
G |
T |
9: 71,390,815 (GRCm39) |
T129K |
probably benign |
Het |
Pramel48 |
A |
G |
5: 95,630,680 (GRCm39) |
I186V |
possibly damaging |
Het |
Ptpn4 |
C |
T |
1: 119,619,475 (GRCm39) |
|
probably null |
Het |
Scgb1b19 |
A |
T |
7: 32,986,940 (GRCm39) |
K30N |
possibly damaging |
Het |
Shpk |
A |
G |
11: 73,104,315 (GRCm39) |
T155A |
probably damaging |
Het |
Slit3 |
T |
C |
11: 35,461,546 (GRCm39) |
Y261H |
probably damaging |
Het |
Sox13 |
A |
G |
1: 133,313,243 (GRCm39) |
F438L |
possibly damaging |
Het |
Sphk1 |
A |
T |
11: 116,425,907 (GRCm39) |
E61D |
probably benign |
Het |
St18 |
A |
G |
1: 6,873,243 (GRCm39) |
D326G |
probably damaging |
Het |
Syde1 |
G |
A |
10: 78,422,032 (GRCm39) |
Q566* |
probably null |
Het |
Tacc2 |
A |
G |
7: 130,330,807 (GRCm39) |
T254A |
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
Trim5 |
A |
T |
7: 103,926,017 (GRCm39) |
N181K |
probably damaging |
Het |
Trpc7 |
A |
T |
13: 56,931,509 (GRCm39) |
I730K |
probably benign |
Het |
Uqcrc1 |
T |
A |
9: 108,776,926 (GRCm39) |
M377K |
probably benign |
Het |
Vmn2r4 |
T |
C |
3: 64,305,898 (GRCm39) |
N508S |
probably benign |
Het |
Vmp1 |
A |
T |
11: 86,477,402 (GRCm39) |
S333T |
probably benign |
Het |
Vps50 |
T |
A |
6: 3,578,854 (GRCm39) |
M639K |
possibly damaging |
Het |
Zfp874b |
A |
T |
13: 67,622,622 (GRCm39) |
C225* |
probably null |
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 |
|
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'- GCCAGCAAAATAATACTCTGTAGCC -3'
(R):5'- ACTTGGTGCTCAGACTCCTG -3'
Sequencing Primer
(F):5'- ACATGCACTTTAAGTAATATGCCC -3'
(R):5'- TCCTGTGACTATATCAGCCAATCAG -3'
|
Posted On |
2019-05-15 |