Mutagenetix > Incidental Mutations

Incidental Mutation 'R4665:Lin54'

351821

Institutional Source

Beutler Lab

Gene Symbol

Lin54

Ensembl Gene

ENSMUSG00000035310

Gene Name

lin-54 homolog (C. elegans)

Synonyms

MMRRC Submission

041923-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100441918-100500639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100453084 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 262 (Q262H)

Ref Sequence

ENSEMBL: ENSMUSP00000121137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046154] [ENSMUST00000123572] [ENSMUST00000137750] [ENSMUST00000139234] [ENSMUST00000144030] [ENSMUST00000149714] [ENSMUST00000152387] [ENSMUST00000154921]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046154
AA Change: Q483H

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041374
Gene: ENSMUSG00000035310
AA Change: Q483H

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: Q483H

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123425
Gene: ENSMUSG00000035310
AA Change: Q483H

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: ENSMUST00000137750
AA Change: Q262H

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120644
Gene: ENSMUSG00000035310
AA Change: Q262H

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

possibly damaging
Transcript: ENSMUST00000149714
AA Change: Q262H

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123544
Gene: ENSMUSG00000035310
AA Change: Q262H

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: ENSMUST00000152387
AA Change: Q394H

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121902
Gene: ENSMUSG00000035310
AA Change: Q394H

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

possibly damaging
Transcript: ENSMUST00000154921
AA Change: Q262H

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121137
Gene: ENSMUSG00000035310
AA Change: Q262H

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

Meta Mutation Damage Score

0.1869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,925,077	M76K	probably null	Het
Abcc4	A	G	14: 118,529,002	I886T	probably benign	Het
Adam6a	T	C	12: 113,544,372	Y122H	possibly damaging	Het
Adgre1	A	G	17: 57,480,947	T905A	probably benign	Het
Arap2	A	G	5: 62,669,969	F969L	possibly damaging	Het
Arhgef4	G	T	1: 34,806,032	G1439V	possibly damaging	Het
Atm	A	G	9: 53,464,229	W2097R	probably benign	Het
Atmin	A	G	8: 116,957,959	D786G	probably damaging	Het
AU016765	T	A	17: 64,519,921		noncoding transcript	Het
Capn1	A	T	19: 6,011,015	N253K	probably benign	Het
Cdc42bpa	A	G	1: 180,144,565	T527A	probably damaging	Het
Chmp7	A	T	14: 69,720,955	V255D	probably damaging	Het
Cldn12	A	G	5: 5,508,385	F14S	probably damaging	Het
Cpsf2	T	C	12: 101,983,207	S61P	probably damaging	Het
Cpvl	C	T	6: 53,931,933	E282K	probably benign	Het
Crygn	T	A	5: 24,751,021		probably benign	Het
Csde1	C	T	3: 103,047,072	T386M	probably damaging	Het
Cux1	G	A	5: 136,286,799	T1129I	probably damaging	Het
Dcaf10	G	A	4: 45,372,769	R394Q	possibly damaging	Het
Dhx16	T	C	17: 35,879,943	V11A	probably damaging	Het
Dnah10	T	C	5: 124,828,472	M4060T	possibly damaging	Het
Duox1	C	T	2: 122,319,475	P116S	probably benign	Het
Eif5b	A	G	1: 38,045,712	E880G	probably damaging	Het
Eml6	A	T	11: 29,819,007	Y67*	probably null	Het
Faim2	C	A	15: 99,524,700		probably null	Het
Faim2	T	G	15: 99,524,701	S72R	probably benign	Het
Fam103a1	C	T	7: 81,768,430	R78W	probably damaging	Het
Fam160a1	A	T	3: 85,730,681	W104R	probably damaging	Het
Fanca	T	C	8: 123,268,972	T1364A	probably damaging	Het
Gak	A	G	5: 108,582,960	I860T	probably benign	Het
Garem2	C	A	5: 30,114,667	R376S	probably damaging	Het
Gdf2	A	G	14: 33,945,451	T377A	probably damaging	Het
Gm2431	A	T	7: 142,257,703	C155S	unknown	Het
Gm37596	G	A	3: 93,692,469	H198Y	probably damaging	Het
Gm5814	A	G	17: 47,410,363	M1V	probably null	Het
Gm5901	C	G	7: 105,377,231	Q69E	possibly damaging	Het
Gm9945	A	G	11: 53,480,375		probably benign	Het
Gmps	T	C	3: 64,001,535	V486A	probably benign	Het
Gtf2ird1	T	A	5: 134,383,902	E55V	probably damaging	Het
Hoxa11	T	A	6: 52,243,503	N267Y	probably damaging	Het
Ifngr2	C	A	16: 91,560,038	H153Q	possibly damaging	Het
Ift172	G	T	5: 31,285,254	Q190K	possibly damaging	Het
Iqch	A	G	9: 63,445,571	V899A	probably damaging	Het
Lactb2	T	C	1: 13,647,400	E133G	probably damaging	Het
Lig3	G	A	11: 82,800,250	V110M	probably damaging	Het
Lingo3	G	A	10: 80,835,538	T186I	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,318,408		probably benign	Het
Ly86	T	A	13: 37,375,034	F70I	probably damaging	Het
Mospd2	A	T	X: 164,947,333	S301T	probably benign	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Myo15	A	T	11: 60,504,879		probably null	Het
Nme8	C	G	13: 19,674,435	A78P	probably damaging	Het
Obscn	C	T	11: 59,124,752	V965M	probably damaging	Het
Olfr1122	T	A	2: 87,387,876	I57K	probably damaging	Het
Parn	T	C	16: 13,541,103	K592E	probably benign	Het
Pax6	C	A	2: 105,683,998		probably benign	Het
Pdcd6	A	T	13: 74,317,206	M1K	probably null	Het
Pex11b	T	C	3: 96,643,835	L198P	possibly damaging	Het
Phldb3	C	T	7: 24,611,427	A28V	probably benign	Het
Pkn3	C	A	2: 30,085,457		probably benign	Het
Pknox1	T	C	17: 31,595,326		probably null	Het
Ptprg	A	C	14: 12,215,288	I1092L	possibly damaging	Het
Pxylp1	A	C	9: 96,825,285	I281M	probably damaging	Het
Retreg2	G	T	1: 75,144,666	L195F	probably damaging	Het
Rgs20	G	C	1: 5,021,008	F66L	probably benign	Het
Ripk4	C	T	16: 97,755,073	V157I	probably damaging	Het
Ryr2	T	C	13: 11,750,685		probably null	Het
Scaper	A	T	9: 55,912,055	S125R	probably damaging	Het
Sec16a	C	T	2: 26,412,958		probably benign	Het
Slc35f6	T	C	5: 30,655,613	L37P	probably damaging	Het
Slc6a12	T	A	6: 121,359,013		probably benign	Het
Slc9a5	A	G	8: 105,368,128	K784E	probably damaging	Het
Snd1	T	C	6: 28,707,054	V455A	probably damaging	Het
Ssbp2	A	T	13: 91,539,335	I46L	possibly damaging	Het
Stil	A	G	4: 115,041,644	D1157G	probably benign	Het
Tax1bp1	T	A	6: 52,737,131	C271S	probably benign	Het
Tdrd6	T	A	17: 43,624,116	M2014L	probably benign	Het
Thsd7a	T	A	6: 12,337,314	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,013	I381F	possibly damaging	Het
Tmprss11d	T	C	5: 86,309,401	D133G	probably damaging	Het
Tpr	C	T	1: 150,444,399	R2233W	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Vgll1	A	G	X: 57,092,432	R54G	possibly damaging	Het
Wdr72	A	G	9: 74,210,024	T673A	probably benign	Het
Zfp169	C	T	13: 48,490,863		probably benign	Het
Zfp319	G	A	8: 95,325,573		probably benign	Het

Other mutations in Lin54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Lin54	APN	5	100485607	missense	probably benign	0.03
IGL01356:Lin54	APN	5	100454017	missense	probably damaging	0.98
IGL02931:Lin54	APN	5	100480321	missense	possibly damaging	0.93
IGL03089:Lin54	APN	5	100450993	missense	probably damaging	1.00
IGL03095:Lin54	APN	5	100454478	missense	probably damaging	0.99
IGL03202:Lin54	APN	5	100475814	missense	possibly damaging	0.92
R0505:Lin54	UTSW	5	100452293	missense	probably damaging	0.98
R1138:Lin54	UTSW	5	100444134	missense	probably damaging	0.98
R1540:Lin54	UTSW	5	100480250	missense	probably damaging	0.99
R1719:Lin54	UTSW	5	100485249	missense	possibly damaging	0.91
R1991:Lin54	UTSW	5	100485801	critical splice donor site	probably null
R2698:Lin54	UTSW	5	100480250	missense	probably damaging	0.99
R3738:Lin54	UTSW	5	100459806	splice site	probably benign
R4238:Lin54	UTSW	5	100475744	missense	possibly damaging	0.45
R4424:Lin54	UTSW	5	100446560	missense	probably damaging	0.98
R4529:Lin54	UTSW	5	100446560	missense	possibly damaging	0.91
R4530:Lin54	UTSW	5	100446560	missense	possibly damaging	0.91
R4531:Lin54	UTSW	5	100446560	missense	possibly damaging	0.91
R4532:Lin54	UTSW	5	100446560	missense	possibly damaging	0.91
R4533:Lin54	UTSW	5	100485403	missense	possibly damaging	0.79
R4784:Lin54	UTSW	5	100459738	missense	probably damaging	0.99
R4785:Lin54	UTSW	5	100459738	missense	probably damaging	0.99
R5252:Lin54	UTSW	5	100480204	missense	probably benign
R5265:Lin54	UTSW	5	100485519	missense	probably damaging	1.00
R6545:Lin54	UTSW	5	100485137	unclassified	probably null
R7150:Lin54	UTSW	5	100485300	missense	possibly damaging	0.74
R7544:Lin54	UTSW	5	100485270	missense	possibly damaging	0.84
X0025:Lin54	UTSW	5	100454443	missense	probably benign	0.11
X0026:Lin54	UTSW	5	100450999	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGCTTTAGACAAATGCACAGC -3'
(R):5'- CCATTCAATGCTGTTAGACATTCATGC -3'

Sequencing Primer
(F):5'- TTAGACAAATGCACAGCTTTAAAGGG -3'
(R):5'- GCTGTTAGACATTCATGCTATTTCAC -3'

Posted On

2015-10-08