Incidental Mutation 'R4018:Mlxipl'
ID |
312017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mlxipl
|
Ensembl Gene |
ENSMUSG00000005373 |
Gene Name |
MLX interacting protein-like |
Synonyms |
ChREBP, WS-bHLH, bHLHd14, Wbscr14 |
MMRRC Submission |
040848-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.532)
|
Stock # |
R4018 (G1)
|
Quality Score |
211 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
135118744-135167236 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 135161526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 482
(Y482H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005507]
[ENSMUST00000128691]
[ENSMUST00000129008]
[ENSMUST00000142385]
[ENSMUST00000153519]
|
AlphaFold |
Q99MZ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005507
AA Change: Y482H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000005507 Gene: ENSMUSG00000005373 AA Change: Y482H
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
PDB:4GNT|B
|
117 |
137 |
1e-8 |
PDB |
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
low complexity region
|
387 |
408 |
N/A |
INTRINSIC |
low complexity region
|
414 |
437 |
N/A |
INTRINSIC |
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
low complexity region
|
513 |
531 |
N/A |
INTRINSIC |
low complexity region
|
574 |
603 |
N/A |
INTRINSIC |
HLH
|
667 |
721 |
1.14e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123370
|
SMART Domains |
Protein: ENSMUSP00000116358 Gene: ENSMUSG00000005373
Domain | Start | End | E-Value | Type |
HLH
|
19 |
73 |
1.14e-9 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128691
AA Change: Y482H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121348 Gene: ENSMUSG00000005373 AA Change: Y482H
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
PDB:4GNT|B
|
117 |
137 |
9e-9 |
PDB |
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
low complexity region
|
387 |
408 |
N/A |
INTRINSIC |
low complexity region
|
414 |
437 |
N/A |
INTRINSIC |
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
low complexity region
|
513 |
531 |
N/A |
INTRINSIC |
low complexity region
|
574 |
603 |
N/A |
INTRINSIC |
SCOP:d1hloa_
|
658 |
709 |
6e-7 |
SMART |
Blast:HLH
|
667 |
699 |
1e-12 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129008
AA Change: Y482H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114933 Gene: ENSMUSG00000005373 AA Change: Y482H
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
PDB:4GNT|B
|
117 |
137 |
7e-9 |
PDB |
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
low complexity region
|
387 |
408 |
N/A |
INTRINSIC |
low complexity region
|
414 |
437 |
N/A |
INTRINSIC |
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
low complexity region
|
513 |
531 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142385
AA Change: Y482H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144328 Gene: ENSMUSG00000005373 AA Change: Y482H
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
PDB:4GNT|B
|
117 |
137 |
7e-9 |
PDB |
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
low complexity region
|
387 |
408 |
N/A |
INTRINSIC |
low complexity region
|
414 |
437 |
N/A |
INTRINSIC |
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
low complexity region
|
513 |
531 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153519
AA Change: Y482H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122198 Gene: ENSMUSG00000005373 AA Change: Y482H
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
PDB:4GNT|B
|
117 |
137 |
9e-9 |
PDB |
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
low complexity region
|
387 |
408 |
N/A |
INTRINSIC |
low complexity region
|
414 |
437 |
N/A |
INTRINSIC |
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
low complexity region
|
513 |
531 |
N/A |
INTRINSIC |
low complexity region
|
574 |
603 |
N/A |
INTRINSIC |
SCOP:d1am9a_
|
658 |
696 |
1e-5 |
SMART |
Blast:HLH
|
667 |
698 |
2e-12 |
BLAST |
low complexity region
|
728 |
744 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154840
|
SMART Domains |
Protein: ENSMUSP00000121668 Gene: ENSMUSG00000005373
Domain | Start | End | E-Value | Type |
HLH
|
26 |
120 |
7.9e-4 |
SMART |
|
Meta Mutation Damage Score |
0.0741 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (33/33) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced glycolysis and lipogenesis and severe simple carbohydrate intolerance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aga |
A |
G |
8: 53,976,226 (GRCm39) |
K319R |
probably benign |
Het |
Brip1 |
G |
T |
11: 86,029,677 (GRCm39) |
T619K |
possibly damaging |
Het |
Cd300ld2 |
G |
T |
11: 114,903,330 (GRCm39) |
|
probably benign |
Het |
Cd300lg |
A |
G |
11: 101,932,420 (GRCm39) |
R2G |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,302,281 (GRCm39) |
V2616I |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,460,517 (GRCm39) |
I1160V |
probably benign |
Het |
Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
Endou |
T |
A |
15: 97,616,818 (GRCm39) |
K235M |
probably damaging |
Het |
Gm5431 |
T |
A |
11: 48,779,995 (GRCm39) |
N309I |
probably damaging |
Het |
Il4 |
T |
A |
11: 53,504,806 (GRCm39) |
|
probably benign |
Het |
Iws1 |
C |
A |
18: 32,203,205 (GRCm39) |
S27* |
probably null |
Het |
Kdm5d |
T |
C |
Y: 910,441 (GRCm39) |
|
probably benign |
Het |
Ldb3 |
T |
C |
14: 34,274,128 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,738,438 (GRCm39) |
T284A |
probably benign |
Het |
Maml1 |
A |
T |
11: 50,156,611 (GRCm39) |
N521K |
probably damaging |
Het |
Notch2 |
G |
T |
3: 98,011,881 (GRCm39) |
C633F |
probably damaging |
Het |
Oc90 |
T |
C |
15: 65,759,457 (GRCm39) |
D232G |
probably benign |
Het |
Or5b101 |
T |
C |
19: 13,005,189 (GRCm39) |
E168G |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,625,885 (GRCm39) |
Y1717C |
unknown |
Het |
Prkca |
T |
A |
11: 107,830,428 (GRCm39) |
I221F |
probably damaging |
Het |
Rab3c |
T |
A |
13: 110,220,728 (GRCm39) |
K144N |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,933,300 (GRCm39) |
N57I |
probably damaging |
Het |
Scyl3 |
A |
G |
1: 163,764,068 (GRCm39) |
T145A |
possibly damaging |
Het |
Septin4 |
G |
A |
11: 87,475,947 (GRCm39) |
R162Q |
probably damaging |
Het |
Slc25a39 |
A |
T |
11: 102,295,850 (GRCm39) |
L127H |
probably damaging |
Het |
Slc9a9 |
T |
C |
9: 94,567,216 (GRCm39) |
V95A |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,844,255 (GRCm39) |
I279V |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,463,893 (GRCm39) |
I314V |
probably benign |
Het |
|
Other mutations in Mlxipl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00771:Mlxipl
|
APN |
5 |
135,161,632 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01872:Mlxipl
|
APN |
5 |
135,142,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02694:Mlxipl
|
APN |
5 |
135,152,872 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03070:Mlxipl
|
APN |
5 |
135,161,307 (GRCm39) |
missense |
possibly damaging |
0.93 |
Scarlet
|
UTSW |
5 |
135,162,884 (GRCm39) |
missense |
possibly damaging |
0.93 |
H8441:Mlxipl
|
UTSW |
5 |
135,152,815 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03054:Mlxipl
|
UTSW |
5 |
135,162,110 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0003:Mlxipl
|
UTSW |
5 |
135,162,043 (GRCm39) |
unclassified |
probably benign |
|
R0126:Mlxipl
|
UTSW |
5 |
135,161,177 (GRCm39) |
missense |
probably damaging |
0.96 |
R0458:Mlxipl
|
UTSW |
5 |
135,162,224 (GRCm39) |
missense |
probably benign |
0.33 |
R0513:Mlxipl
|
UTSW |
5 |
135,166,117 (GRCm39) |
missense |
probably benign |
0.33 |
R0580:Mlxipl
|
UTSW |
5 |
135,152,829 (GRCm39) |
missense |
probably benign |
0.01 |
R0744:Mlxipl
|
UTSW |
5 |
135,161,329 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0827:Mlxipl
|
UTSW |
5 |
135,161,592 (GRCm39) |
missense |
probably benign |
0.00 |
R1052:Mlxipl
|
UTSW |
5 |
135,142,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R1241:Mlxipl
|
UTSW |
5 |
135,161,572 (GRCm39) |
missense |
probably benign |
0.01 |
R1795:Mlxipl
|
UTSW |
5 |
135,136,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Mlxipl
|
UTSW |
5 |
135,162,422 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2038:Mlxipl
|
UTSW |
5 |
135,135,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R2064:Mlxipl
|
UTSW |
5 |
135,161,631 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2069:Mlxipl
|
UTSW |
5 |
135,135,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R2081:Mlxipl
|
UTSW |
5 |
135,142,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R2095:Mlxipl
|
UTSW |
5 |
135,150,974 (GRCm39) |
splice site |
probably benign |
|
R3114:Mlxipl
|
UTSW |
5 |
135,162,516 (GRCm39) |
splice site |
probably benign |
|
R4090:Mlxipl
|
UTSW |
5 |
135,161,381 (GRCm39) |
missense |
probably benign |
0.33 |
R4321:Mlxipl
|
UTSW |
5 |
135,164,304 (GRCm39) |
nonsense |
probably null |
|
R4414:Mlxipl
|
UTSW |
5 |
135,166,253 (GRCm39) |
unclassified |
probably benign |
|
R5706:Mlxipl
|
UTSW |
5 |
135,162,458 (GRCm39) |
missense |
probably benign |
0.33 |
R6088:Mlxipl
|
UTSW |
5 |
135,162,884 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6508:Mlxipl
|
UTSW |
5 |
135,157,474 (GRCm39) |
missense |
probably benign |
0.03 |
R6704:Mlxipl
|
UTSW |
5 |
135,166,094 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7060:Mlxipl
|
UTSW |
5 |
135,161,169 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7095:Mlxipl
|
UTSW |
5 |
135,162,884 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7128:Mlxipl
|
UTSW |
5 |
135,162,705 (GRCm39) |
missense |
probably damaging |
0.98 |
R7464:Mlxipl
|
UTSW |
5 |
135,162,482 (GRCm39) |
missense |
probably benign |
0.01 |
R7510:Mlxipl
|
UTSW |
5 |
135,161,972 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7669:Mlxipl
|
UTSW |
5 |
135,161,224 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7737:Mlxipl
|
UTSW |
5 |
135,164,235 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7806:Mlxipl
|
UTSW |
5 |
135,163,397 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7910:Mlxipl
|
UTSW |
5 |
135,161,263 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8118:Mlxipl
|
UTSW |
5 |
135,166,102 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8363:Mlxipl
|
UTSW |
5 |
135,135,930 (GRCm39) |
missense |
probably benign |
0.18 |
R8701:Mlxipl
|
UTSW |
5 |
135,136,045 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8725:Mlxipl
|
UTSW |
5 |
135,157,483 (GRCm39) |
missense |
probably benign |
0.01 |
R9235:Mlxipl
|
UTSW |
5 |
135,157,541 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9566:Mlxipl
|
UTSW |
5 |
135,152,616 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9727:Mlxipl
|
UTSW |
5 |
135,150,388 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCCTCTTTGTTGCCAGAAG -3'
(R):5'- AGAGTCGCTTCCTCCCAGTATC -3'
Sequencing Primer
(F):5'- TGTTGCCAGAAGAATCTCTCC -3'
(R):5'- CCTGAGCAGCTGTGTAAGAC -3'
|
Posted On |
2015-04-29 |