Incidental Mutation 'R4029:Lefty1'
| ID |
313117 |
| 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 |
040959-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
180762587-180765965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180765346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 305
(S305P)
|
| 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: S305P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000041427
Gene: ENSMUSG00000038793
AA Change: S305P
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (31/31) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,293,008 (GRCm39) |
K46R |
probably benign |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
| Bfsp1 |
G |
A |
2: 143,673,749 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,238,140 (GRCm39) |
T125A |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,655,498 (GRCm39) |
S366A |
probably damaging |
Het |
| Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| Krt17 |
T |
A |
11: 100,148,349 (GRCm39) |
N364I |
probably damaging |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
| Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
| Nup35 |
A |
G |
2: 80,483,318 (GRCm39) |
D172G |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
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 |
|
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 |
|
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'- GCTCAAGGCAATTGTGACC -3'
(R):5'- TTTGCATGAAAGGCACATCC -3'
Sequencing Primer
(F):5'- CAAGGCAATTGTGACCCCGAG -3'
(R):5'- ACATCCTTGGGGAAGCCAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation