Incidental Mutation 'R3944:Lyl1'
ID |
359743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lyl1
|
Ensembl Gene |
ENSMUSG00000034041 |
Gene Name |
lymphoblastomic leukemia 1 |
Synonyms |
Lyl-1, bHLHa18 |
MMRRC Submission |
040925-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3944 (G1)
|
Quality Score |
20 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
85428078-85431569 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 85430631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 178
(T178P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001974]
[ENSMUST00000037165]
[ENSMUST00000076715]
[ENSMUST00000099070]
[ENSMUST00000109762]
[ENSMUST00000109764]
[ENSMUST00000109767]
[ENSMUST00000125370]
[ENSMUST00000109768]
|
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 |
probably damaging
Transcript: ENSMUST00000037165
AA Change: T178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046010 Gene: ENSMUSG00000034041 AA Change: T178P
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: ENSMUST00000076715
|
SMART Domains |
Protein: ENSMUSP00000076005 Gene: ENSMUSG00000001911
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
4.1e-30 |
PFAM |
DWA
|
67 |
175 |
1.86e-18 |
SMART |
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
Pfam:CTF_NFI
|
213 |
322 |
7.4e-32 |
PFAM |
Pfam:CTF_NFI
|
313 |
396 |
3.8e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099070
|
SMART Domains |
Protein: ENSMUSP00000096669 Gene: ENSMUSG00000001911
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
4.7e-30 |
PFAM |
DWA
|
67 |
175 |
1.86e-18 |
SMART |
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
Pfam:CTF_NFI
|
213 |
437 |
2.7e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109762
|
SMART Domains |
Protein: ENSMUSP00000105384 Gene: ENSMUSG00000001911
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
1 |
38 |
1.1e-27 |
PFAM |
DWA
|
59 |
167 |
1.86e-18 |
SMART |
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
Pfam:CTF_NFI
|
205 |
312 |
5.4e-32 |
PFAM |
Pfam:CTF_NFI
|
305 |
387 |
3.6e-19 |
PFAM |
|
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 |
noncoding transcript
Transcript: ENSMUST00000148644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175767
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132236
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148746
|
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 |
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: 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 |
|
Meta Mutation Damage Score |
0.5925 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (61/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
6430548M08Rik |
T |
C |
8: 120,879,241 (GRCm39) |
L213P |
probably damaging |
Het |
Akap12 |
A |
G |
10: 4,307,347 (GRCm39) |
K1491E |
probably benign |
Het |
Akr1c12 |
T |
A |
13: 4,329,339 (GRCm39) |
H6L |
probably benign |
Het |
Ankrd50 |
C |
T |
3: 38,506,645 (GRCm39) |
C251Y |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,084,210 (GRCm39) |
I3876V |
possibly damaging |
Het |
Bltp2 |
T |
A |
11: 78,160,350 (GRCm39) |
L603* |
probably null |
Het |
Calu |
T |
C |
6: 29,361,710 (GRCm39) |
S125P |
possibly damaging |
Het |
Cdh10 |
A |
G |
15: 18,964,335 (GRCm39) |
T166A |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,755,892 (GRCm39) |
|
probably benign |
Het |
Cntn4 |
T |
G |
6: 106,595,375 (GRCm39) |
N497K |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,793,407 (GRCm39) |
C381S |
probably damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,589,151 (GRCm39) |
N221S |
probably benign |
Het |
Dnaaf5 |
C |
T |
5: 139,138,679 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,176,645 (GRCm39) |
D755G |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,622,197 (GRCm39) |
V418E |
probably damaging |
Het |
Eefsec |
T |
A |
6: 88,275,076 (GRCm39) |
H296L |
probably benign |
Het |
Elmo3 |
T |
C |
8: 106,035,852 (GRCm39) |
|
probably null |
Het |
Gcm1 |
C |
T |
9: 77,967,098 (GRCm39) |
Q106* |
probably null |
Het |
Gnl1 |
G |
T |
17: 36,299,413 (GRCm39) |
G528V |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
H2-T23 |
A |
G |
17: 36,341,535 (GRCm39) |
V312A |
probably benign |
Het |
Hectd4 |
C |
A |
5: 121,441,588 (GRCm39) |
|
probably benign |
Het |
Hoxa7 |
T |
A |
6: 52,193,606 (GRCm39) |
|
probably benign |
Het |
Ifnlr1 |
T |
A |
4: 135,428,539 (GRCm39) |
V122E |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,512,025 (GRCm39) |
M1036T |
probably damaging |
Het |
Khdc1b |
G |
T |
1: 21,455,030 (GRCm39) |
K96N |
probably damaging |
Het |
Kif19a |
A |
T |
11: 114,677,561 (GRCm39) |
Y578F |
probably benign |
Het |
Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,488,960 (GRCm39) |
V317A |
probably benign |
Het |
Mmp1b |
G |
A |
9: 7,384,708 (GRCm39) |
T280I |
possibly damaging |
Het |
Mpi |
T |
C |
9: 57,452,536 (GRCm39) |
D332G |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
Ntng2 |
G |
A |
2: 29,094,289 (GRCm39) |
L361F |
probably benign |
Het |
Obscn |
A |
T |
11: 59,023,373 (GRCm39) |
I668N |
probably damaging |
Het |
Or52x1 |
A |
T |
7: 104,853,162 (GRCm39) |
C129* |
probably null |
Het |
Or8k40 |
A |
G |
2: 86,584,525 (GRCm39) |
S186P |
probably benign |
Het |
Pabpc1l |
A |
G |
2: 163,884,247 (GRCm39) |
E328G |
probably damaging |
Het |
Pan3 |
A |
T |
5: 147,387,540 (GRCm39) |
N170Y |
probably damaging |
Het |
Prdm2 |
C |
T |
4: 142,858,385 (GRCm39) |
R1635Q |
possibly damaging |
Het |
Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
Rp9 |
A |
C |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
Slc6a12 |
A |
T |
6: 121,331,239 (GRCm39) |
|
probably null |
Het |
Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
Spout1 |
A |
G |
2: 30,064,148 (GRCm39) |
V372A |
probably benign |
Het |
Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
Tab1 |
T |
C |
15: 80,037,941 (GRCm39) |
L258P |
probably damaging |
Het |
Tbl3 |
A |
G |
17: 24,919,682 (GRCm39) |
S791P |
possibly damaging |
Het |
Tcof1 |
C |
A |
18: 60,955,909 (GRCm39) |
D927Y |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Topaz1 |
T |
C |
9: 122,579,669 (GRCm39) |
S860P |
possibly damaging |
Het |
Vill |
T |
C |
9: 118,897,499 (GRCm39) |
I258T |
probably benign |
Het |
Vmn1r204 |
G |
A |
13: 22,741,014 (GRCm39) |
R215H |
probably benign |
Het |
Vmn2r106 |
A |
T |
17: 20,487,913 (GRCm39) |
F829I |
probably damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
Vmn2r58 |
A |
T |
7: 41,513,885 (GRCm39) |
F253I |
probably benign |
Het |
Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
Zfp932 |
T |
A |
5: 110,157,820 (GRCm39) |
V506E |
probably benign |
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 |
IGL03050: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 |
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'- GTTCAGTGAGGACAGCAGTG -3'
(R):5'- AACTTGATGGGTCTCACTGAC -3'
Sequencing Primer
(F):5'- AGTGGGCGCCCTCTGTC -3'
(R):5'- ATTGGGGTCGCCATCACAGTC -3'
|
Posted On |
2015-12-15 |