Incidental Mutation 'R4752:Lyl1'
| ID |
357678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lyl1
|
| Ensembl Gene |
ENSMUSG00000034041 |
| Gene Name |
lymphoblastomic leukemia 1 |
| Synonyms |
Lyl-1, bHLHa18 |
| MMRRC Submission |
042032-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4752 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85428078-85431569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85430910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 271
(T271S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001974]
[ENSMUST00000037165]
[ENSMUST00000076715]
[ENSMUST00000099070]
[ENSMUST00000109762]
[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 |
probably benign
Transcript: ENSMUST00000037165
AA Change: T271S
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000046010
Gene: ENSMUSG00000034041
AA Change: T271S
| 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: ENSMUST00000177260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132236
|
| 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 |
|
| Meta Mutation Damage Score |
0.0818 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (68/69) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
A |
3: 137,775,751 (GRCm39) |
Q1647K |
possibly damaging |
Het |
| Abcf3 |
A |
G |
16: 20,369,326 (GRCm39) |
E236G |
probably damaging |
Het |
| Adamts17 |
A |
G |
7: 66,654,218 (GRCm39) |
T483A |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,517,426 (GRCm39) |
P465Q |
probably null |
Het |
| Babam2 |
C |
T |
5: 31,859,391 (GRCm39) |
|
probably benign |
Het |
| Bpifb1 |
T |
A |
2: 154,058,200 (GRCm39) |
|
probably benign |
Het |
| Ccnb1ip1 |
T |
A |
14: 51,031,122 (GRCm39) |
T64S |
possibly damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,136,102 (GRCm39) |
V46A |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,584,254 (GRCm39) |
D708E |
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,197,273 (GRCm39) |
|
probably benign |
Het |
| Cryzl2 |
C |
T |
1: 157,286,219 (GRCm39) |
|
probably null |
Het |
| Dgka |
A |
T |
10: 128,572,528 (GRCm39) |
F42I |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,112,491 (GRCm39) |
V1059E |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
A |
12: 40,496,364 (GRCm39) |
I3K |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,171,279 (GRCm39) |
N573K |
probably damaging |
Het |
| Eif2b4 |
G |
A |
5: 31,348,575 (GRCm39) |
R213* |
probably null |
Het |
| Eif3b |
A |
G |
5: 140,426,856 (GRCm39) |
D704G |
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,437,197 (GRCm39) |
E125G |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,434,153 (GRCm39) |
N412S |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,233,225 (GRCm39) |
M570V |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
| Hook2 |
C |
T |
8: 85,729,349 (GRCm39) |
Q632* |
probably null |
Het |
| Ipcef1 |
A |
T |
10: 6,929,573 (GRCm39) |
W56R |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,637 (GRCm39) |
I418M |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,699,295 (GRCm39) |
T154I |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,336,895 (GRCm39) |
I333V |
probably damaging |
Het |
| Meioc |
A |
G |
11: 102,565,259 (GRCm39) |
T236A |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,532,538 (GRCm39) |
T1749A |
possibly damaging |
Het |
| Nfib |
T |
A |
4: 82,215,016 (GRCm39) |
Q529L |
probably damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nisch |
A |
T |
14: 30,914,545 (GRCm39) |
F42L |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,706,626 (GRCm39) |
Y547N |
probably damaging |
Het |
| Or10g3 |
C |
T |
14: 52,609,764 (GRCm39) |
V249I |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,515 (GRCm39) |
S150P |
possibly damaging |
Het |
| Or5l14 |
A |
G |
2: 87,792,693 (GRCm39) |
L181P |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,266 (GRCm39) |
Y136C |
probably damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,709,563 (GRCm39) |
N117I |
probably damaging |
Het |
| Prkn |
T |
C |
17: 12,223,010 (GRCm39) |
S387P |
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,387,508 (GRCm39) |
K164N |
probably benign |
Het |
| Prr23a3 |
T |
A |
9: 98,747,700 (GRCm39) |
L218Q |
probably damaging |
Het |
| Prss43 |
A |
G |
9: 110,656,836 (GRCm39) |
H114R |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,878,296 (GRCm39) |
M142K |
probably damaging |
Het |
| Shisa7 |
G |
A |
7: 4,837,249 (GRCm39) |
T89I |
possibly damaging |
Het |
| Slco1a1 |
C |
T |
6: 141,892,340 (GRCm39) |
A9T |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,158,172 (GRCm39) |
|
probably benign |
Het |
| Tdg-ps |
G |
A |
15: 82,400,572 (GRCm39) |
|
noncoding transcript |
Het |
| Tgm4 |
A |
G |
9: 122,880,451 (GRCm39) |
D284G |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,804,013 (GRCm39) |
I355F |
probably benign |
Het |
| Tmem121b |
A |
T |
6: 120,469,995 (GRCm39) |
F241I |
possibly damaging |
Het |
| Tmem200c |
T |
A |
17: 69,149,235 (GRCm39) |
V606E |
probably benign |
Het |
| Ttc39c |
A |
G |
18: 12,861,782 (GRCm39) |
K370R |
probably benign |
Het |
| Vmn2r87 |
G |
A |
10: 130,314,336 (GRCm39) |
Q417* |
probably null |
Het |
| Vps45 |
T |
C |
3: 95,955,699 (GRCm39) |
Y97C |
possibly damaging |
Het |
| Zfp407 |
A |
G |
18: 84,581,039 (GRCm39) |
S25P |
probably benign |
Het |
| Zfp566 |
A |
G |
7: 29,777,306 (GRCm39) |
S292P |
probably 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 |
|
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 |
|
R3944:Lyl1
|
UTSW |
8 |
85,430,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATATAGGCTTCCTGGTGCGG -3'
(R):5'- AAAGCCACTGCAAGTAGCCTG -3'
Sequencing Primer
(F):5'- AAACGGCTGTGCTGACCTC -3'
(R):5'- CTGCAAGTAGCCTGTGGGAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation