Mutagenetix > Incidental Mutation

Incidental Mutation 'R1817:Lcorl'

204481

Institutional Source

Beutler Lab

Gene Symbol

Lcorl

Ensembl Gene

ENSMUSG00000015882

Gene Name

ligand dependent nuclear receptor corepressor-like

Synonyms

Mlr1, A830039H10Rik

MMRRC Submission

039845-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R1817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45697181-45857615 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45795346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 55 (I55N)

Ref Sequence

ENSEMBL: ENSMUSP00000042677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016026] [ENSMUST00000045586] [ENSMUST00000087164] [ENSMUST00000121573] [ENSMUST00000186633] [ENSMUST00000189859] [ENSMUST00000190036]

AlphaFold

Q3U285

Predicted Effect

probably damaging
Transcript: ENSMUST00000016026
AA Change: I55N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016026
Gene: ENSMUSG00000015882
AA Change: I55N

Domain	Start	End	E-Value	Type
low complexity region	234	253	N/A	INTRINSIC
Pfam:HTH_psq	276	313	5.1e-9	PFAM
Pfam:HTH_psq	525	570	1.9e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000045586
AA Change: I55N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042677
Gene: ENSMUSG00000015882
AA Change: I55N

Domain	Start	End	E-Value	Type
low complexity region	234	253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000067997

Predicted Effect

probably benign
Transcript: ENSMUST00000087164

SMART Domains

Protein: ENSMUSP00000084408
Gene: ENSMUSG00000015882

Domain	Start	End	E-Value	Type
low complexity region	151	170	N/A	INTRINSIC
Pfam:HTH_psq	193	230	3.4e-7	PFAM
Pfam:HTH_psq	442	487	9.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121573

SMART Domains

Protein: ENSMUSP00000112416
Gene: ENSMUSG00000015882

Domain	Start	End	E-Value	Type
low complexity region	151	170	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156295

Predicted Effect

probably damaging
Transcript: ENSMUST00000186633
AA Change: I52N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

unknown
Transcript: ENSMUST00000187615
AA Change: F48I

Predicted Effect

probably benign
Transcript: ENSMUST00000189859

SMART Domains

Protein: ENSMUSP00000139996
Gene: ENSMUSG00000015882

Domain	Start	End	E-Value	Type
Blast:ZnF_C2H2	16	38	1e-5	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000190036
AA Change: I45N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.3143

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (90/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,219,318	S600T	probably benign	Het
Acly	T	A	11: 100,495,891	Q615L	probably benign	Het
Adgrf1	C	A	17: 43,310,033	T387K	probably benign	Het
Afg3l1	G	T	8: 123,501,931	K745N	probably damaging	Het
Armc8	T	C	9: 99,536,259	T39A	possibly damaging	Het
Atm	C	A	9: 53,492,233		probably benign	Het
Babam2	A	G	5: 32,057,546	T324A	probably damaging	Het
Btd	C	A	14: 31,662,289	D77E	possibly damaging	Het
Cadm1	T	A	9: 47,829,370		probably benign	Het
Card11	A	T	5: 140,885,560	D729E	probably benign	Het
Ccni	G	T	5: 93,188,108	T144K	possibly damaging	Het
Cecr2	A	G	6: 120,731,267	T77A	probably damaging	Het
Cpsf7	T	C	19: 10,535,439	F296L	possibly damaging	Het
Cyfip1	C	A	7: 55,873,448	N70K	possibly damaging	Het
Cyp4a12b	A	G	4: 115,414,062		probably benign	Het
Ddx20	A	T	3: 105,678,580	Y816*	probably null	Het
Ddx59	A	G	1: 136,432,507	I420V	probably damaging	Het
Dgat1	T	A	15: 76,502,503	M445L	probably damaging	Het
Dnah5	T	A	15: 28,246,400	L628*	probably null	Het
Dnah7a	A	C	1: 53,559,148	D1409E	probably benign	Het
Dnmt1	T	C	9: 20,927,126	T215A	probably benign	Het
Dsg4	C	T	18: 20,471,245	T923M	probably damaging	Het
Enox1	A	G	14: 77,615,475	I394V	possibly damaging	Het
Esrp2	A	T	8: 106,134,618	M183K	probably damaging	Het
Fam171a1	C	T	2: 3,178,373	P79S	probably benign	Het
Fga	A	G	3: 83,031,775	T486A	probably benign	Het
Fkbp10	G	T	11: 100,415,889	A36S	probably benign	Het
Fnip1	A	G	11: 54,502,453	T572A	probably benign	Het
Fxn	A	C	19: 24,280,401		probably null	Het
Gaa	C	T	11: 119,284,498	Q901*	probably null	Het
Gabrg1	A	G	5: 70,754,251	M344T	probably benign	Het
Galnt7	C	T	8: 57,538,178	V433M	probably damaging	Het
Gin1	A	G	1: 97,785,226		probably null	Het
Gm5155	C	T	7: 17,873,330		noncoding transcript	Het
Hydin	A	C	8: 110,532,827	D2477A	probably benign	Het
Igsf6	T	C	7: 121,070,808	Y37C	probably damaging	Het
Il18rap	A	G	1: 40,531,527	I210V	probably benign	Het
Kif3a	T	C	11: 53,598,734	Y138H	probably damaging	Het
Klra17	A	G	6: 129,868,718		probably null	Het
Lrrc49	A	G	9: 60,602,776	S398P	possibly damaging	Het
Ltv1	A	G	10: 13,179,274	L384S	probably damaging	Het
Mageb3	A	T	2: 121,954,437	Y261*	probably null	Het
Mb21d1	A	G	9: 78,434,311		probably null	Het
Mical3	T	G	6: 121,042,235	T9P	probably benign	Het
Mpp6	T	G	6: 50,163,431	F144V	probably benign	Het
Myrip	C	T	9: 120,388,162	S49L	probably damaging	Het
Nrap	T	C	19: 56,384,055		probably benign	Het
Olfr164	T	C	16: 19,285,877	N289D	probably damaging	Het
Olfr729	A	G	14: 50,148,271	V201A	probably benign	Het
Otoa	A	T	7: 121,160,530		probably benign	Het
Parp11	T	A	6: 127,490,045	I133N	probably damaging	Het
Pcnx	A	G	12: 81,918,642	T528A	probably benign	Het
Pde4c	A	G	8: 70,726,989	H63R	probably benign	Het
Pdpk1	T	C	17: 24,110,904	K53E	probably damaging	Het
Pdzd7	A	T	19: 45,036,176	M468K	probably damaging	Het
Perm1	C	A	4: 156,218,604	P535Q	possibly damaging	Het
Pgap1	C	A	1: 54,535,969	A265S	probably benign	Het
Pik3c2a	A	T	7: 116,376,512		probably null	Het
Plxnd1	T	C	6: 115,980,601	T491A	possibly damaging	Het
Pms1	A	T	1: 53,206,969	D470E	probably benign	Het
Prf1	C	A	10: 61,302,983	T240N	probably damaging	Het
Prune2	A	G	19: 17,122,081	T1650A	probably benign	Het
Ptprf	A	G	4: 118,223,265	L1264P	probably benign	Het
Ptprs	A	G	17: 56,419,527	S948P	probably damaging	Het
Rapgef1	T	C	2: 29,686,256	V117A	probably damaging	Het
Rnf123	A	G	9: 108,062,926	V756A	probably benign	Het
Sez6l2	A	G	7: 126,967,119	E741G	probably damaging	Het
Shc3	A	T	13: 51,472,852	I125K	possibly damaging	Het
Smr3a	A	T	5: 88,008,058		probably benign	Het
Spef2	C	T	15: 9,584,108	E1624K	probably damaging	Het
St6gal1	A	T	16: 23,321,333	K85*	probably null	Het
Taf1b	T	G	12: 24,547,122	D353E	possibly damaging	Het
Tcp10b	C	T	17: 13,067,703	P180S	possibly damaging	Het
Tlr9	A	T	9: 106,224,943	M478L	probably benign	Het
Tpr	A	T	1: 150,419,903	E892D	probably damaging	Het
Trio	C	T	15: 27,742,495	W22*	probably null	Het
Usp14	A	G	18: 10,024,673	V8A	probably damaging	Het
Vmn2r19	A	T	6: 123,330,052	K506N	possibly damaging	Het
Vmn2r45	T	A	7: 8,472,373	N552I	probably damaging	Het
Vmn2r56	A	T	7: 12,715,615	M232K	probably benign	Het
Vps13b	T	A	15: 35,910,642	F3517L	possibly damaging	Het
Yif1a	C	T	19: 5,092,305	R247*	probably null	Het
Zbtb5	A	G	4: 44,993,767	V539A	probably benign	Het
Zfp180	G	A	7: 24,105,227	R357Q	probably damaging	Het
Zfp536	A	G	7: 37,568,617	L458P	probably damaging	Het
Zfp646	G	A	7: 127,883,120	G1490S	probably benign	Het
Zfp970	C	T	2: 177,476,183	H517Y	probably damaging	Het
Zranb3	A	T	1: 128,017,556		probably null	Het

Other mutations in Lcorl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Lcorl	APN	5	45747295	missense	probably damaging	1.00
IGL01611:Lcorl	APN	5	45747092	missense	probably damaging	1.00
IGL03014:Lcorl	UTSW	5	45774029	intron	probably benign
R0070:Lcorl	UTSW	5	45733701	missense	probably damaging	1.00
R0070:Lcorl	UTSW	5	45733701	missense	probably damaging	1.00
R0499:Lcorl	UTSW	5	45734369	missense	probably benign	0.00
R1518:Lcorl	UTSW	5	45734201	missense	possibly damaging	0.94
R1977:Lcorl	UTSW	5	45775420	missense	probably null	0.16
R2171:Lcorl	UTSW	5	45747151	missense	probably damaging	0.99
R3737:Lcorl	UTSW	5	45734041	missense	possibly damaging	0.95
R3738:Lcorl	UTSW	5	45734041	missense	possibly damaging	0.95
R3739:Lcorl	UTSW	5	45734041	missense	possibly damaging	0.95
R3825:Lcorl	UTSW	5	45775387	splice site	probably benign
R4035:Lcorl	UTSW	5	45734041	missense	possibly damaging	0.95
R4199:Lcorl	UTSW	5	45733788	missense	possibly damaging	0.83
R4583:Lcorl	UTSW	5	45733589	nonsense	probably null
R4647:Lcorl	UTSW	5	45733589	nonsense	probably null
R4803:Lcorl	UTSW	5	45747281	unclassified	probably null
R5524:Lcorl	UTSW	5	45775522	critical splice acceptor site	probably null
R5524:Lcorl	UTSW	5	45775523	critical splice acceptor site	probably null
R5526:Lcorl	UTSW	5	45733727	missense	probably benign
R5533:Lcorl	UTSW	5	45733877	missense	possibly damaging	0.47
R5772:Lcorl	UTSW	5	45795367	splice site	probably null
R5927:Lcorl	UTSW	5	45725424	intron	probably benign
R6175:Lcorl	UTSW	5	45776490	missense	probably damaging	1.00
R6734:Lcorl	UTSW	5	45733497	missense	probably damaging	0.98
R6864:Lcorl	UTSW	5	45747204	missense	probably damaging	1.00
R7078:Lcorl	UTSW	5	45747224	missense	probably damaging	1.00
R7396:Lcorl	UTSW	5	45857459	splice site	probably null
R7624:Lcorl	UTSW	5	45701965	missense	probably benign
R9008:Lcorl	UTSW	5	45774174	intron	probably benign
R9354:Lcorl	UTSW	5	45733626	nonsense	probably null
R9497:Lcorl	UTSW	5	45733997	missense	probably benign
X0023:Lcorl	UTSW	5	45734012	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCCACTGTGCCTTTCAAA -3'
(R):5'- CGTGCTTGACAGTACTTTAGCTTG -3'

Sequencing Primer
(F):5'- CCACTGTGCCTTTCAAAAATGTATAC -3'
(R):5'- CTGGAGCTCACTTTGTAGACCAG -3'

Posted On

2014-06-23