Mutagenetix > Incidental Mutation

Incidental Mutation 'R7974:Lefty1'

650755

Institutional Source

Beutler Lab

Gene Symbol

Lefty1

Ensembl Gene

ENSMUSG00000038793

Gene Name

left right determination factor 1

Synonyms

lefty-1, Lefty, Stra3, Ebaf

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7974 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180935022-180938400 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180937820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 318 (C318R)

Ref Sequence

ENSEMBL: ENSMUSP00000041427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027800] [ENSMUST00000037361] [ENSMUST00000159436] [ENSMUST00000161847] [ENSMUST00000162283]

AlphaFold

Q64280

Predicted Effect

probably benign
Transcript: ENSMUST00000027800

SMART Domains

Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519

Domain	Start	End	E-Value	Type
Pfam:RSN1_TM	50	213	3.3e-24	PFAM
Pfam:PHM7_cyt	261	327	8.2e-12	PFAM
Pfam:RSN1_7TM	349	692	1.5e-87	PFAM
transmembrane domain	697	719	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000037361
AA Change: C318R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041427
Gene: ENSMUSG00000038793
AA Change: C318R

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:TGFb_propeptide	19	237	1.6e-13	PFAM
TGFB	265	356	5.78e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159436

SMART Domains

Protein: ENSMUSP00000125192
Gene: ENSMUSG00000026519

Domain	Start	End	E-Value	Type
Pfam:RSN1_TM	50	173	2.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161847

SMART Domains

Protein: ENSMUSP00000124937
Gene: ENSMUSG00000026519

Domain	Start	End	E-Value	Type
transmembrane domain	49	71	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162283

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. Mice lacking a functional copy of this gene exhibit embryonic lethality and defects in left-right patterning. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele show embryonic and postnatal lethality, abnormal liver lobation, and a variety of left-right positional defects in visceral organs including left thoracic and atrial isomerism. A subset of mice homozygous for a differentnull allele show left pulmonary isomerism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,044,973		probably null	Het
Adamts19	A	T	18: 59,011,022	Q892L	possibly damaging	Het
Adamts9	A	G	6: 92,909,687		probably null	Het
Aftph	T	C	11: 20,698,233	*686W	probably null	Het
AI661453	T	C	17: 47,466,081	L244P	unknown	Het
Ankar	C	A	1: 72,698,979	E15*	probably null	Het
Ankrd39	A	G	1: 36,546,918		probably benign	Het
Arsi	A	G	18: 60,912,406	D56G	probably damaging	Het
Blmh	T	C	11: 76,965,903	I245T	possibly damaging	Het
Ccr6	T	C	17: 8,256,224	F87S	probably damaging	Het
Cdc42ep2	T	C	19: 5,918,495	K61E	probably damaging	Het
Celsr1	C	T	15: 86,031,030	G914D	probably damaging	Het
Cep126	T	A	9: 8,120,763	K86N	probably benign	Het
Cfap70	A	T	14: 20,420,750	F532I	probably damaging	Het
Cpsf3	T	A	12: 21,308,005	L506Q	probably damaging	Het
Dct	A	C	14: 118,039,655	I273S	probably damaging	Het
Dsel	T	C	1: 111,860,499	I769V	probably benign	Het
Dus2	G	A	8: 106,036,020	E138K	probably benign	Het
Emsy	A	G	7: 98,630,218	S305P	possibly damaging	Het
Erp27	A	T	6: 136,908,065	V245D	probably damaging	Het
Fez1	C	A	9: 36,843,948	T81K	probably damaging	Het
Gli3	A	C	13: 15,726,256	Q1409H	probably benign	Het
Gm10696	T	C	3: 94,175,541	K321R	probably benign	Het
Hdac9	T	C	12: 34,303,220	S664G	possibly damaging	Het
Hibadh	A	G	6: 52,557,895	S167P	probably benign	Het
Hsdl1	A	G	8: 119,566,333	V121A	probably benign	Het
Ighv1-18	A	C	12: 114,683,049	I6S	possibly damaging	Het
Iqcm	T	A	8: 75,554,892	M1K	probably null	Het
Itch	T	C	2: 155,192,159	F417S	probably damaging	Het
Itpr1	C	T	6: 108,523,405	T2653I	possibly damaging	Het
Kank1	T	G	19: 25,424,220	Y1064D	probably damaging	Het
Kmt2c	T	C	5: 25,300,563	Q3249R	probably damaging	Het
Lmbr1l	C	T	15: 98,911,619	V147I	probably benign	Het
Meig1	C	A	2: 3,411,874	E37*	probably null	Het
Mpp3	A	G	11: 102,008,354		probably null	Het
Muc3	T	C	5: 137,146,816	N2S		Het
Mup7	T	C	4: 60,067,518	E199G	possibly damaging	Het
Nol4	G	C	18: 22,719,025	Y275*	probably null	Het
Nrxn1	G	A	17: 90,700,779	P429S	probably damaging	Het
Olfr761	T	C	17: 37,952,781	Y81C	probably damaging	Het
Pfkl	A	T	10: 77,994,162	F367L	probably damaging	Het
Pik3cg	T	C	12: 32,204,032	E652G	probably benign	Het
Prkag3	A	G	1: 74,744,821	I301T	probably benign	Het
Rcn1	G	A	2: 105,393,710	P163L	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc37a2	A	T	9: 37,239,125		probably null	Het
Slc9b1	C	T	3: 135,394,030	T437I	possibly damaging	Het
Smap1	T	G	1: 23,849,441	T248P	probably benign	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Spata20	T	C	11: 94,484,140	N212S	possibly damaging	Het
Sphkap	A	C	1: 83,278,962	C355W	probably damaging	Het
Spsb1	T	A	4: 149,907,109	M1L	probably damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stxbp5	A	C	10: 9,770,695		probably null	Het
Taar5	G	C	10: 23,971,222	D173H	possibly damaging	Het
Tfrc	A	G	16: 32,621,283	D438G	probably null	Het
Tinag	A	T	9: 76,999,849	I368K	probably benign	Het
Tm9sf1	A	G	14: 55,636,449	W531R	probably damaging	Het
Tnc	G	T	4: 64,000,724	P1154Q	possibly damaging	Het
Toporsl	A	G	4: 52,611,645	R513G	probably damaging	Het
Ttc30a1	T	C	2: 75,980,344	H465R	probably damaging	Het
Vat1	A	G	11: 101,466,130	S2P	probably benign	Het
Vmn2r107	C	G	17: 20,357,008	P423A	probably benign	Het
Vmn2r2	T	A	3: 64,117,387	E591V	probably damaging	Het
Vmn2r62	G	A	7: 42,764,607	T804I	probably damaging	Het
Vmn2r62	T	A	7: 42,787,857	Y401F	probably damaging	Het
Vmn2r89	A	T	14: 51,456,002	I270F	probably damaging	Het
Zfp418	T	C	7: 7,182,168	F377L	possibly damaging	Het
Zkscan5	T	C	5: 145,207,692	S182P	unknown	Het

Other mutations in Lefty1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02445:Lefty1	APN	1	180937677	missense	probably benign	0.01
IGL02974:Lefty1	APN	1	180935277	missense	probably benign	0.21
R0230:Lefty1	UTSW	1	180937014	missense	probably damaging	1.00
R0383:Lefty1	UTSW	1	180937634	nonsense	probably null
R1976:Lefty1	UTSW	1	180937824	missense	probably benign	0.01
R2351:Lefty1	UTSW	1	180937242	missense	possibly damaging	0.80
R4027:Lefty1	UTSW	1	180937781	missense	probably benign	0.00
R4028:Lefty1	UTSW	1	180937781	missense	probably benign	0.00
R4029:Lefty1	UTSW	1	180937781	missense	probably benign	0.00
R4030:Lefty1	UTSW	1	180937781	missense	probably benign	0.00
R4719:Lefty1	UTSW	1	180937712	missense	probably benign	0.01
R4761:Lefty1	UTSW	1	180937625	missense	probably benign	0.40
R5476:Lefty1	UTSW	1	180937698	missense	probably benign	0.06
R6151:Lefty1	UTSW	1	180935116	missense	unknown
R6175:Lefty1	UTSW	1	180935149	missense	unknown
R6362:Lefty1	UTSW	1	180937160	missense	probably benign	0.39
R7153:Lefty1	UTSW	1	180937767	missense	probably benign	0.01
R7678:Lefty1	UTSW	1	180936760	missense	probably damaging	0.99
R7765:Lefty1	UTSW	1	180936547	missense	probably damaging	1.00
R8787:Lefty1	UTSW	1	180936553	missense	probably damaging	0.98
R8923:Lefty1	UTSW	1	180937753	nonsense	probably null
R8929:Lefty1	UTSW	1	180937725	missense	probably damaging	1.00
R9011:Lefty1	UTSW	1	180937676	missense	probably benign	0.25
R9452:Lefty1	UTSW	1	180935284	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAAGGCAATTGTGACCCCG -3'
(R):5'- AGATTTGCATGAAAGGCACATC -3'

Sequencing Primer
(F):5'- AATTGTGACCCCGAGGCAC -3'
(R):5'- ACATCCTTGGGGAAGCCAC -3'

Posted On

2020-09-15