Mutagenetix > Incidental Mutation

Incidental Mutation 'R2351:Lefty1'

246096

Institutional Source

Beutler Lab

Gene Symbol

Lefty1

Ensembl Gene

ENSMUSG00000038793

Gene Name

left right determination factor 1

Synonyms

Ebaf, Lefty, Stra3, lefty-1

MMRRC Submission

040333-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180762587-180765965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180764807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 244 (L244H)

Ref Sequence

ENSEMBL: ENSMUSP00000041427 (fasta)

Gene Model

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

AlphaFold

Q64280

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037361
AA Change: L244H

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041427
Gene: ENSMUSG00000038793
AA Change: L244H

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,846 (GRCm39)	Y135*	probably null	Het
Aadacl4fm1	A	T	4: 144,255,348 (GRCm39)	Y256F	probably damaging	Het
Acad10	A	T	5: 121,767,990 (GRCm39)	I820K	probably benign	Het
Arl8b	A	T	6: 108,798,484 (GRCm39)	I178F	possibly damaging	Het
Asap1	A	T	15: 64,007,653 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,766,718 (GRCm39)	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,615,060 (GRCm39)	D43E	probably benign	Het
Ccdc162	C	A	10: 41,431,968 (GRCm39)		probably null	Het
Ccdc186	T	G	19: 56,787,129 (GRCm39)	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,676,046 (GRCm39)	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,314,344 (GRCm39)	N123K	possibly damaging	Het
Col18a1	C	T	10: 76,948,538 (GRCm39)	G325S	probably benign	Het
Cwc25	G	T	11: 97,638,218 (GRCm39)	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,428,510 (GRCm39)	V370A	possibly damaging	Het
Cyp4f13	T	G	17: 33,144,570 (GRCm39)	I309L	probably benign	Het
Dap3	A	T	3: 88,840,870 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,403,301 (GRCm39)	D3080E	probably benign	Het
Ern2	A	G	7: 121,770,731 (GRCm39)	V762A	probably damaging	Het
Fgr	C	T	4: 132,724,548 (GRCm39)	R255C	probably damaging	Het
Gcm2	A	T	13: 41,257,094 (GRCm39)	D218E	probably benign	Het
Gfi1	A	G	5: 107,869,640 (GRCm39)	S131P	probably damaging	Het
Grm8	A	T	6: 28,126,118 (GRCm39)	C3S	possibly damaging	Het
Gucy2d	A	G	7: 98,113,226 (GRCm39)	D840G	probably benign	Het
H3f3a	T	C	1: 180,637,723 (GRCm39)	T81A	probably benign	Het
Igsf23	C	T	7: 19,678,723 (GRCm39)	W22*	probably null	Het
Il12rb2	G	A	6: 67,338,928 (GRCm39)	Q3*	probably null	Het
Ino80d	A	T	1: 63,124,994 (GRCm39)	L156H	probably benign	Het
Kdm2a	G	A	19: 4,379,154 (GRCm39)	P554S	probably benign	Het
Mdn1	T	A	4: 32,750,010 (GRCm39)	S4398T	probably benign	Het
Myh10	A	G	11: 68,683,965 (GRCm39)	D1126G	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,341,574 (GRCm39)	D111V	probably damaging	Het
Naip6	T	A	13: 100,420,169 (GRCm39)	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,276,257 (GRCm39)	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921 (GRCm39)	I77F	probably damaging	Het
Nvl	T	C	1: 180,958,357 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,003,438 (GRCm39)	R1287G	probably damaging	Het
Opn3	T	C	1: 175,520,077 (GRCm39)	D9G	probably benign	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or4c114	C	T	2: 88,904,743 (GRCm39)	G231S	possibly damaging	Het
Or6a2	A	T	7: 106,600,883 (GRCm39)	Y61*	probably null	Het
Or6c8b	A	G	10: 128,882,797 (GRCm39)	V45A	probably benign	Het
Or6k2	T	A	1: 173,986,486 (GRCm39)	V49D	probably damaging	Het
Or8k24	C	T	2: 86,216,471 (GRCm39)	C97Y	probably damaging	Het
Parp10	A	T	15: 76,127,056 (GRCm39)	S101R	probably benign	Het
Pdhx	T	A	2: 102,854,562 (GRCm39)	K399*	probably null	Het
Pdia4	A	T	6: 47,773,848 (GRCm39)		probably null	Het
Pla2g4f	T	C	2: 120,130,923 (GRCm39)	D844G	probably benign	Het
Prtg	C	A	9: 72,764,106 (GRCm39)	D526E	probably damaging	Het
Rassf6	T	C	5: 90,779,418 (GRCm39)	D5G	probably benign	Het
Riok3	C	T	18: 12,282,724 (GRCm39)	Q388*	probably null	Het
Robo4	T	A	9: 37,322,956 (GRCm39)	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,018,868 (GRCm39)	E103K	probably benign	Het
Rpl18a	A	T	8: 71,348,864 (GRCm39)	H37Q	probably benign	Het
Ryr1	A	T	7: 28,774,718 (GRCm39)	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,691,660 (GRCm39)	D2E	possibly damaging	Het
Slco5a1	C	T	1: 13,060,158 (GRCm39)	V188I	probably benign	Het
Son	T	A	16: 91,454,547 (GRCm39)	M1098K	probably damaging	Het
Spag9	A	G	11: 93,983,726 (GRCm39)	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,495 (GRCm39)	F46S	possibly damaging	Het
Sspo	C	T	6: 48,441,803 (GRCm39)	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,424,121 (GRCm39)	I209V	probably benign	Het
Tlk2	A	G	11: 105,100,656 (GRCm39)	Y87C	probably damaging	Het
Traf4	G	A	11: 78,051,002 (GRCm39)	R385W	probably damaging	Het
Triobp	G	A	15: 78,888,780 (GRCm39)	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,506 (GRCm39)	I56L	probably benign	Het
Upp2	T	A	2: 58,653,674 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,869,457 (GRCm39)	W2654R	probably damaging	Het
Zc3h18	C	T	8: 123,129,926 (GRCm39)	R435*	probably null	Het
Zfta	T	C	19: 7,399,609 (GRCm39)	I247T	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
IGL02974:Lefty1	APN	1	180,762,842 (GRCm39)	missense	probably benign	0.21
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
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

Predicted Primers

PCR Primer
(F):5'- AACTTCTGGCAGCAGCTGAG -3'
(R):5'- ATTTCAAACCCACTGCCGTAG -3'

Sequencing Primer
(F):5'- CAGCTGAGCCGGCCGAG -3'
(R):5'- TATTTATGGGGATGGACACCTAAG -3'

Posted On

2014-10-30