Incidental Mutation 'IGL02445:Lefty1'
| ID |
293545 |
| 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)
|
| Stock # |
IGL02445
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180762587-180765965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180765242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 270
(M270T)
|
| 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 benign
Transcript: ENSMUST00000037361
AA Change: M270T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000041427
Gene: ENSMUSG00000038793
AA Change: M270T
| 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
|
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,383,198 (GRCm39) |
T2127M |
probably damaging |
Het |
| Acp2 |
A |
G |
2: 91,036,606 (GRCm39) |
D175G |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,286,798 (GRCm39) |
L801P |
probably damaging |
Het |
| Adcy10 |
T |
G |
1: 165,398,313 (GRCm39) |
V1470G |
possibly damaging |
Het |
| Ankar |
T |
G |
1: 72,705,524 (GRCm39) |
K829Q |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,274,318 (GRCm39) |
Y531C |
probably benign |
Het |
| Atm |
T |
C |
9: 53,365,630 (GRCm39) |
I2590V |
probably benign |
Het |
| Brme1 |
T |
A |
8: 84,886,137 (GRCm39) |
M31K |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,986,668 (GRCm39) |
L485P |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,283,911 (GRCm39) |
|
probably benign |
Het |
| Coprs |
T |
C |
8: 13,935,797 (GRCm39) |
K74R |
possibly damaging |
Het |
| Cul3 |
A |
T |
1: 80,281,886 (GRCm39) |
L31M |
possibly damaging |
Het |
| Cyp3a59 |
C |
A |
5: 146,033,463 (GRCm39) |
Q200K |
probably benign |
Het |
| Ddx19b |
C |
A |
8: 111,735,456 (GRCm39) |
V402L |
probably damaging |
Het |
| Disc1 |
T |
A |
8: 125,875,142 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
C |
T |
18: 20,579,307 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,963 (GRCm39) |
Y442S |
probably damaging |
Het |
| Dtl |
C |
T |
1: 191,290,172 (GRCm39) |
|
probably null |
Het |
| Ezh1 |
A |
C |
11: 101,101,513 (GRCm39) |
V175G |
possibly damaging |
Het |
| Hepacam2 |
C |
T |
6: 3,483,481 (GRCm39) |
G100D |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,340,764 (GRCm39) |
H1704Q |
possibly damaging |
Het |
| Itprid2 |
G |
A |
2: 79,487,842 (GRCm39) |
E642K |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,140,177 (GRCm39) |
S469P |
probably damaging |
Het |
| Nap1l3 |
A |
T |
X: 121,305,752 (GRCm39) |
V322D |
probably damaging |
Het |
| Ndufv2 |
A |
G |
17: 66,387,889 (GRCm39) |
|
probably benign |
Het |
| Or14j5 |
A |
T |
17: 38,162,008 (GRCm39) |
H175L |
probably damaging |
Het |
| Or4p18 |
G |
A |
2: 88,232,456 (GRCm39) |
T274I |
possibly damaging |
Het |
| Or8b55 |
T |
C |
9: 38,726,901 (GRCm39) |
I34T |
possibly damaging |
Het |
| Otol1 |
A |
T |
3: 69,935,367 (GRCm39) |
D453V |
probably damaging |
Het |
| Papolb |
G |
A |
5: 142,514,480 (GRCm39) |
H388Y |
probably benign |
Het |
| Ppp1r10 |
A |
G |
17: 36,237,094 (GRCm39) |
E128G |
probably damaging |
Het |
| Prss12 |
T |
A |
3: 123,280,669 (GRCm39) |
D451E |
probably damaging |
Het |
| Psmc1 |
T |
C |
12: 100,081,087 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
T |
A |
9: 72,833,222 (GRCm39) |
I10N |
probably benign |
Het |
| Rab31 |
C |
T |
17: 66,028,998 (GRCm39) |
|
probably null |
Het |
| Ret |
G |
A |
6: 118,158,860 (GRCm39) |
T184I |
probably damaging |
Het |
| Rhd |
A |
T |
4: 134,611,481 (GRCm39) |
M214L |
possibly damaging |
Het |
| Ripor3 |
C |
A |
2: 167,834,682 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,312,052 (GRCm39) |
L2036P |
probably benign |
Het |
| Slc26a3 |
C |
A |
12: 31,507,051 (GRCm39) |
D335E |
possibly damaging |
Het |
| Taf6 |
A |
G |
5: 138,182,756 (GRCm39) |
|
probably benign |
Het |
| Tnk2 |
T |
C |
16: 32,494,408 (GRCm39) |
V442A |
probably benign |
Het |
| Virma |
A |
G |
4: 11,527,029 (GRCm39) |
M1143V |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,848 (GRCm39) |
R522* |
probably null |
Het |
| Vmn2r-ps129 |
A |
G |
17: 23,227,393 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp473 |
A |
G |
7: 44,383,107 (GRCm39) |
C408R |
probably damaging |
Het |
|
| Other mutations in Lefty1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation