Incidental Mutation 'IGL03050:Lyl1'
| ID |
453433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lyl1
|
| Ensembl Gene |
ENSMUSG00000034041 |
| Gene Name |
lymphoblastomic leukemia 1 |
| Synonyms |
Lyl-1, bHLHa18 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03050 (G1)
|
| Quality Score |
164 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85428078-85431569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85429300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 3
(P3L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001974]
[ENSMUST00000037165]
[ENSMUST00000109764]
[ENSMUST00000109767]
[ENSMUST00000109768]
[ENSMUST00000125370]
|
| AlphaFold |
P27792 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001974
|
| SMART Domains |
Protein: ENSMUSP00000001974
Gene: ENSMUSG00000001909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRM
|
55 |
499 |
3.5e-151 |
PFAM |
|
Pfam:Met_10
|
141 |
256 |
1.3e-8 |
PFAM |
|
ZnF_C3H1
|
599 |
625 |
3.55e-6 |
SMART |
|
low complexity region
|
648 |
661 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037165
AA Change: P3L
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046010
Gene: ENSMUSG00000034041
AA Change: P3L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
39 |
N/A |
INTRINSIC |
|
HLH
|
155 |
207 |
3.97e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109764
|
| SMART Domains |
Protein: ENSMUSP00000105386
Gene: ENSMUSG00000001911
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
1 |
38 |
1e-28 |
PFAM |
|
DWA
|
59 |
167 |
1.86e-18 |
SMART |
|
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
205 |
494 |
9.8e-137 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109767
|
| SMART Domains |
Protein: ENSMUSP00000105389
Gene: ENSMUSG00000001909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRM
|
55 |
499 |
4.9e-149 |
PFAM |
|
Pfam:Met_10
|
142 |
256 |
3.4e-8 |
PFAM |
|
ZnF_C3H1
|
599 |
625 |
3.55e-6 |
SMART |
|
low complexity region
|
648 |
661 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109768
|
| SMART Domains |
Protein: ENSMUSP00000105390
Gene: ENSMUSG00000001909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRM
|
48 |
492 |
3.1e-149 |
PFAM |
|
Pfam:Met_10
|
135 |
249 |
4.4e-8 |
PFAM |
|
ZnF_C3H1
|
592 |
618 |
3.55e-6 |
SMART |
|
low complexity region
|
641 |
654 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125370
|
| SMART Domains |
Protein: ENSMUSP00000135510
Gene: ENSMUSG00000001909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRM
|
55 |
470 |
1.7e-140 |
PFAM |
|
Pfam:Met_10
|
142 |
256 |
2.8e-8 |
PFAM |
|
ZnF_C3H1
|
570 |
596 |
3.55e-6 |
SMART |
|
low complexity region
|
619 |
632 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136423
|
| SMART Domains |
Protein: ENSMUSP00000134723
Gene: ENSMUSG00000001909
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
190 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137953
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175884
|
| Meta Mutation Damage Score |
0.1208 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
95% (41/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice with mutation of this gene are vaible and fertile. Defects in production and differentiation of progenitor cells are observed, along with impaired ability of fetal liver or bone marrow cells in reconstituting B and T lineages after transplant. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd2 |
G |
A |
19: 42,028,533 (GRCm39) |
R63H |
probably damaging |
Het |
| Bbs2 |
C |
A |
8: 94,801,041 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
G |
T |
12: 102,779,065 (GRCm39) |
D400E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
T |
19: 47,636,537 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,368,085 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
C |
G |
9: 64,962,118 (GRCm39) |
S386C |
probably benign |
Het |
| Dscaml1 |
A |
C |
9: 45,654,297 (GRCm39) |
D1443A |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,372,421 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
C |
T |
3: 51,165,038 (GRCm39) |
R262Q |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,907,896 (GRCm39) |
S2702F |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,279,497 (GRCm39) |
S347R |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,309,604 (GRCm39) |
S615P |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,897,027 (GRCm39) |
D291G |
possibly damaging |
Het |
| Mirt1 |
A |
G |
19: 53,433,710 (GRCm39) |
|
noncoding transcript |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mug1 |
T |
A |
6: 121,857,530 (GRCm39) |
S1085T |
possibly damaging |
Het |
| Myo18a |
A |
T |
11: 77,709,596 (GRCm39) |
T190S |
probably benign |
Het |
| Myo5a |
G |
A |
9: 75,054,191 (GRCm39) |
|
probably null |
Het |
| Or1ak2 |
T |
A |
2: 36,827,635 (GRCm39) |
F168Y |
probably damaging |
Het |
| Or1l8 |
A |
T |
2: 36,817,820 (GRCm39) |
M102K |
probably damaging |
Het |
| Or1m1 |
A |
T |
9: 18,666,750 (GRCm39) |
Y60* |
probably null |
Het |
| Or5an1 |
G |
T |
19: 12,260,876 (GRCm39) |
V155L |
probably benign |
Het |
| Or9g3 |
A |
G |
2: 85,589,785 (GRCm39) |
*312Q |
probably null |
Het |
| Relch |
T |
A |
1: 105,654,106 (GRCm39) |
V825E |
probably damaging |
Het |
| Rgma |
G |
A |
7: 73,067,263 (GRCm39) |
V173M |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,701,422 (GRCm39) |
S379F |
possibly damaging |
Het |
| Sec16a |
T |
A |
2: 26,305,759 (GRCm39) |
D2215V |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Ttyh2 |
T |
A |
11: 114,599,680 (GRCm39) |
L370Q |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,669,139 (GRCm39) |
R322G |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,900 (GRCm39) |
M718T |
possibly damaging |
Het |
| Zhx2 |
T |
C |
15: 57,686,229 (GRCm39) |
F533L |
possibly damaging |
Het |
|
| Other mutations in Lyl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Lyl1
|
APN |
8 |
85,429,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02948:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02976:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03037:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03038:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03061:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03106:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03115:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03146:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03152:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03166:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03175:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03221:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03226:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03296:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03346:Lyl1
|
APN |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03014:Lyl1
|
UTSW |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03134:Lyl1
|
UTSW |
8 |
85,429,300 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3944:Lyl1
|
UTSW |
8 |
85,430,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4752:Lyl1
|
UTSW |
8 |
85,430,910 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7508:Lyl1
|
UTSW |
8 |
85,430,929 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8139:Lyl1
|
UTSW |
8 |
85,429,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCCTCCTTTTAGGTCCTAG -3'
(R):5'- CTGGTGTGTCCCAGGTTTATCAC -3'
Sequencing Primer
(F):5'- AGCAGTTTCTAGGACCACTTTTC -3'
(R):5'- AGGTTTATCACTGGCACGC -3'
|
| Posted On |
2017-02-08 |
Incidental Mutation