Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02974:Lefty1'

406273

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lefty1

Ensembl Gene

ENSMUSG00000038793

Gene Name

left right determination factor 1

Synonyms

Ebaf, Lefty, Stra3, lefty-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02974

Quality Score

Status

Chromosome

Chromosomal Location

180762587-180765965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 180762842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 56 (H56Q)

Ref Sequence

ENSEMBL: ENSMUSP00000041427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037361]

AlphaFold

Q64280

Predicted Effect

probably benign
Transcript: ENSMUST00000037361
AA Change: H56Q

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000041427
Gene: ENSMUSG00000038793
AA Change: H56Q

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

noncoding transcript
Transcript: ENSMUST00000132087

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	T	5: 48,545,479 (GRCm39)	T242M	probably damaging	Het
Abcg3	A	T	5: 105,116,129 (GRCm39)	I235N	probably damaging	Het
Agbl3	T	C	6: 34,776,757 (GRCm39)	L416S	probably damaging	Het
Alcam	T	C	16: 52,116,079 (GRCm39)	D165G	probably benign	Het
Aldh18a1	T	A	19: 40,557,528 (GRCm39)	I341F	probably damaging	Het
Amn	T	C	12: 111,237,575 (GRCm39)	V7A	probably benign	Het
Apc	C	T	18: 34,401,436 (GRCm39)		probably benign	Het
Arg2	T	C	12: 79,197,566 (GRCm39)	Y195H	probably damaging	Het
Bdp1	A	T	13: 100,191,800 (GRCm39)	M22K	probably benign	Het
Cacna1s	T	G	1: 136,020,355 (GRCm39)	N797K	possibly damaging	Het
Chd8	T	A	14: 52,439,158 (GRCm39)		probably null	Het
Clstn2	G	A	9: 97,414,760 (GRCm39)	T378M	probably damaging	Het
Elf2	A	G	3: 51,165,110 (GRCm39)	V298A	probably damaging	Het
Fbn1	C	T	2: 125,188,250 (GRCm39)	D1530N	probably null	Het
Fcrl2	A	T	3: 87,164,704 (GRCm39)	I274N	possibly damaging	Het
Fmo3	C	T	1: 162,810,619 (GRCm39)	E24K	probably damaging	Het
Fndc3b	A	T	3: 27,542,425 (GRCm39)	N408K	probably damaging	Het
Foxn2	A	T	17: 88,770,543 (GRCm39)	N130I	probably damaging	Het
Fscb	T	A	12: 64,518,299 (GRCm39)	I1056F	unknown	Het
Gimap5	A	C	6: 48,730,311 (GRCm39)	T294P	possibly damaging	Het
Gm20489	T	C	X: 100,307,320 (GRCm39)	Q11R	probably damaging	Het
Gpr3	T	C	4: 132,938,220 (GRCm39)	T151A	possibly damaging	Het
Gzmc	T	A	14: 56,471,451 (GRCm39)	H30L	probably damaging	Het
Ints6l	C	A	X: 55,552,296 (GRCm39)	S845Y	probably benign	Het
Iqcf3	A	T	9: 106,430,844 (GRCm39)	C101*	probably null	Het
Krt82	G	A	15: 101,459,020 (GRCm39)	Q7*	probably null	Het
L3mbtl1	A	T	2: 162,812,103 (GRCm39)	H716L	possibly damaging	Het
Lrp1	T	C	10: 127,390,885 (GRCm39)	Y3004C	probably damaging	Het
Lrp10	C	A	14: 54,705,341 (GRCm39)	S177*	probably null	Het
Naa15	A	G	3: 51,368,628 (GRCm39)	K576R	possibly damaging	Het
Naip2	A	G	13: 100,298,186 (GRCm39)	S617P	probably damaging	Het
Olfm1	T	G	2: 28,119,701 (GRCm39)	N445K	probably damaging	Het
Or4ac1-ps1	C	T	2: 88,370,579 (GRCm39)		silent	Het
Or5b24	T	G	19: 12,912,399 (GRCm39)	V99G	probably benign	Het
Ostm1	T	A	10: 42,559,158 (GRCm39)	N139K	probably damaging	Het
Ovol1	A	G	19: 5,601,177 (GRCm39)	Y205H	probably damaging	Het
Pappa	C	T	4: 65,123,172 (GRCm39)	L836F	probably damaging	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Ppfia2	A	G	10: 106,636,637 (GRCm39)	K229E	probably benign	Het
Ppm1b	T	A	17: 85,301,252 (GRCm39)	V44E	possibly damaging	Het
Rapgef1	T	C	2: 29,600,228 (GRCm39)	F611L	possibly damaging	Het
Rev3l	T	A	10: 39,738,743 (GRCm39)	Y2832*	probably null	Het
Robo1	T	A	16: 72,803,750 (GRCm39)	Y1099N	probably benign	Het
Sf3b1	T	C	1: 55,046,866 (GRCm39)	H226R	probably benign	Het
Slc26a4	C	T	12: 31,579,553 (GRCm39)	V570I	probably damaging	Het
Slc27a1	C	A	8: 72,036,847 (GRCm39)	A361D	probably damaging	Het
Srp68	T	C	11: 116,137,051 (GRCm39)	N549D	probably benign	Het
Terb1	G	T	8: 105,221,600 (GRCm39)	S202*	probably null	Het
Tmc1	T	A	19: 20,878,208 (GRCm39)	M96L	probably benign	Het
Tmprss11d	A	G	5: 86,454,235 (GRCm39)	V190A	probably damaging	Het
Ttll6	G	A	11: 96,047,528 (GRCm39)	C709Y	probably benign	Het
Uba1	A	G	X: 20,544,959 (GRCm39)	H712R	probably benign	Het
Unc80	A	C	1: 66,564,817 (GRCm39)	T835P	possibly damaging	Het
Vmn2r14	G	A	5: 109,369,292 (GRCm39)	P94S	possibly damaging	Het
Yes1	C	T	5: 32,818,112 (GRCm39)	A383V	probably damaging	Het

Other mutations in Lefty1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02445:Lefty1	APN	1	180,765,242 (GRCm39)	missense	probably benign	0.01
R0230:Lefty1	UTSW	1	180,764,579 (GRCm39)	missense	probably damaging	1.00
R0383:Lefty1	UTSW	1	180,765,199 (GRCm39)	nonsense	probably null
R1976:Lefty1	UTSW	1	180,765,389 (GRCm39)	missense	probably benign	0.01
R2351:Lefty1	UTSW	1	180,764,807 (GRCm39)	missense	possibly damaging	0.80
R4027:Lefty1	UTSW	1	180,765,346 (GRCm39)	missense	probably benign	0.00
R4028:Lefty1	UTSW	1	180,765,346 (GRCm39)	missense	probably benign	0.00
R4029:Lefty1	UTSW	1	180,765,346 (GRCm39)	missense	probably benign	0.00
R4030:Lefty1	UTSW	1	180,765,346 (GRCm39)	missense	probably benign	0.00
R4719:Lefty1	UTSW	1	180,765,277 (GRCm39)	missense	probably benign	0.01
R4761:Lefty1	UTSW	1	180,765,190 (GRCm39)	missense	probably benign	0.40
R5476:Lefty1	UTSW	1	180,765,263 (GRCm39)	missense	probably benign	0.06
R6151:Lefty1	UTSW	1	180,762,681 (GRCm39)	missense	unknown
R6175:Lefty1	UTSW	1	180,762,714 (GRCm39)	missense	unknown
R6362:Lefty1	UTSW	1	180,764,725 (GRCm39)	missense	probably benign	0.39
R7153:Lefty1	UTSW	1	180,765,332 (GRCm39)	missense	probably benign	0.01
R7678:Lefty1	UTSW	1	180,764,325 (GRCm39)	missense	probably damaging	0.99
R7765:Lefty1	UTSW	1	180,764,112 (GRCm39)	missense	probably damaging	1.00
R7974:Lefty1	UTSW	1	180,765,385 (GRCm39)	missense	probably damaging	1.00
R8787:Lefty1	UTSW	1	180,764,118 (GRCm39)	missense	probably damaging	0.98
R8923:Lefty1	UTSW	1	180,765,318 (GRCm39)	nonsense	probably null
R8929:Lefty1	UTSW	1	180,765,290 (GRCm39)	missense	probably damaging	1.00
R9011:Lefty1	UTSW	1	180,765,241 (GRCm39)	missense	probably benign	0.25
R9452:Lefty1	UTSW	1	180,762,849 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02