Incidental Mutation 'IGL02694:Mlxipl'
ID |
303871 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mlxipl
|
Ensembl Gene |
ENSMUSG00000005373 |
Gene Name |
MLX interacting protein-like |
Synonyms |
ChREBP, WS-bHLH, bHLHd14, Wbscr14 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.532)
|
Stock # |
IGL02694
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
135118744-135167236 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 135152872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005507]
[ENSMUST00000128691]
[ENSMUST00000129008]
[ENSMUST00000142385]
[ENSMUST00000153519]
[ENSMUST00000201977]
|
AlphaFold |
Q99MZ3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005507
|
SMART Domains |
Protein: ENSMUSP00000005507 Gene: ENSMUSG00000005373
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: ENSMUST00000128691
|
SMART Domains |
Protein: ENSMUSP00000121348 Gene: ENSMUSG00000005373
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 |
probably benign
Transcript: ENSMUST00000129008
|
SMART Domains |
Protein: ENSMUSP00000114933 Gene: ENSMUSG00000005373
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 |
noncoding transcript
Transcript: ENSMUST00000141770
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142385
|
SMART Domains |
Protein: ENSMUSP00000144328 Gene: ENSMUSG00000005373
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 benign
Transcript: ENSMUST00000153519
|
SMART Domains |
Protein: ENSMUSP00000122198 Gene: ENSMUSG00000005373
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 |
noncoding transcript
Transcript: ENSMUST00000201067
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202431
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201977
|
SMART Domains |
Protein: ENSMUSP00000144299 Gene: ENSMUSG00000005373
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
PDB:4GNT|B
|
117 |
137 |
2e-6 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer3 |
A |
G |
7: 97,866,084 (GRCm39) |
I213T |
probably benign |
Het |
Alox8 |
T |
A |
11: 69,077,455 (GRCm39) |
T432S |
probably damaging |
Het |
Col4a3 |
T |
C |
1: 82,688,515 (GRCm39) |
|
probably benign |
Het |
Cyp2c54 |
A |
G |
19: 40,035,987 (GRCm39) |
Y308H |
possibly damaging |
Het |
Dscam |
A |
G |
16: 96,394,476 (GRCm39) |
V1942A |
probably benign |
Het |
F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
Fam13b |
A |
G |
18: 34,584,259 (GRCm39) |
|
probably null |
Het |
Gykl1 |
A |
G |
18: 52,827,257 (GRCm39) |
H155R |
probably benign |
Het |
Lmo7 |
T |
A |
14: 102,124,606 (GRCm39) |
V355D |
probably damaging |
Het |
Lrtm2 |
T |
A |
6: 119,297,846 (GRCm39) |
D65V |
possibly damaging |
Het |
Ly6g6f |
C |
T |
17: 35,300,144 (GRCm39) |
V235M |
possibly damaging |
Het |
Or11j4 |
A |
G |
14: 50,630,257 (GRCm39) |
I15V |
probably benign |
Het |
Or13a20 |
A |
G |
7: 140,232,093 (GRCm39) |
N67S |
probably damaging |
Het |
Or14a256 |
C |
T |
7: 86,265,518 (GRCm39) |
V112I |
probably benign |
Het |
Ppp2r1a |
A |
G |
17: 21,171,702 (GRCm39) |
|
probably benign |
Het |
Psmb2 |
A |
G |
4: 126,603,351 (GRCm39) |
N193S |
probably benign |
Het |
Rassf2 |
A |
T |
2: 131,851,641 (GRCm39) |
Y34N |
possibly damaging |
Het |
Ryr2 |
A |
G |
13: 11,620,075 (GRCm39) |
F3841L |
probably damaging |
Het |
Skint2 |
A |
G |
4: 112,473,792 (GRCm39) |
|
probably benign |
Het |
Spdl1 |
T |
C |
11: 34,704,448 (GRCm39) |
I462V |
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,459 (GRCm39) |
M152V |
probably benign |
Het |
Tlk2 |
A |
G |
11: 105,112,061 (GRCm39) |
E138G |
probably benign |
Het |
Vmn1r89 |
A |
G |
7: 12,954,056 (GRCm39) |
E196G |
probably benign |
Het |
Zfp142 |
A |
G |
1: 74,609,307 (GRCm39) |
L1496P |
probably damaging |
Het |
Zfp689 |
T |
C |
7: 127,047,573 (GRCm39) |
D94G |
possibly damaging |
Het |
Zfp944 |
A |
G |
17: 22,558,899 (GRCm39) |
V116A |
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 |
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 |
|
R4018:Mlxipl
|
UTSW |
5 |
135,161,526 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2015-04-16 |