Incidental Mutation 'R4414:Mlxipl'
ID |
328059 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mlxipl
|
Ensembl Gene |
ENSMUSG00000005373 |
Gene Name |
MLX interacting protein-like |
Synonyms |
ChREBP, WS-bHLH, bHLHd14, Wbscr14 |
MMRRC Submission |
041694-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
R4414 (G1)
|
Quality Score |
191 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
135118744-135167236 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 135166253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005507]
[ENSMUST00000128691]
[ENSMUST00000129008]
[ENSMUST00000142385]
[ENSMUST00000153519]
|
AlphaFold |
Q99MZ3 |
Predicted Effect |
probably benign
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: ENSMUST00000123370
|
SMART Domains |
Protein: ENSMUSP00000116358 Gene: ENSMUSG00000005373
Domain | Start | End | E-Value | Type |
HLH
|
19 |
73 |
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 |
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 |
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (50/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
T |
A |
14: 44,406,690 (GRCm39) |
M120L |
probably benign |
Het |
Aco2 |
A |
G |
15: 81,773,584 (GRCm39) |
|
probably null |
Het |
Acss1 |
A |
G |
2: 150,501,823 (GRCm39) |
S115P |
possibly damaging |
Het |
Ank2 |
A |
T |
3: 127,019,411 (GRCm39) |
|
probably null |
Het |
AU041133 |
C |
T |
10: 81,987,316 (GRCm39) |
T323M |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,977,870 (GRCm39) |
T1148I |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,847,334 (GRCm39) |
V1468I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
Cep89 |
A |
G |
7: 35,115,822 (GRCm39) |
|
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,941,480 (GRCm39) |
K283E |
possibly damaging |
Het |
Cog5 |
C |
T |
12: 31,710,853 (GRCm39) |
Q78* |
probably null |
Het |
Col20a1 |
C |
T |
2: 180,643,043 (GRCm39) |
R796C |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,165,840 (GRCm39) |
T502S |
probably benign |
Het |
Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
Dse |
A |
T |
10: 34,028,632 (GRCm39) |
F819L |
probably benign |
Het |
Eloa |
G |
T |
4: 135,738,553 (GRCm39) |
L136I |
possibly damaging |
Het |
Eloa |
T |
A |
4: 135,738,576 (GRCm39) |
H128L |
probably benign |
Het |
Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
Golim4 |
T |
G |
3: 75,802,347 (GRCm39) |
N287T |
probably benign |
Het |
Gpx8 |
T |
A |
13: 113,179,682 (GRCm39) |
K206N |
possibly damaging |
Het |
Iqgap3 |
G |
T |
3: 88,004,293 (GRCm39) |
V460F |
probably benign |
Het |
Kcne4 |
A |
T |
1: 78,795,651 (GRCm39) |
M100L |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,721,077 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
G |
A |
14: 47,962,387 (GRCm39) |
W1117* |
probably null |
Het |
Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
Lmln |
T |
G |
16: 32,930,220 (GRCm39) |
I559S |
probably benign |
Het |
Mapk4 |
A |
T |
18: 74,063,609 (GRCm39) |
F538I |
possibly damaging |
Het |
Mmrn1 |
T |
C |
6: 60,921,570 (GRCm39) |
L9P |
probably damaging |
Het |
Mnat1 |
G |
A |
12: 73,228,601 (GRCm39) |
R155H |
probably damaging |
Het |
Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
Naaladl1 |
T |
C |
19: 6,165,581 (GRCm39) |
L745P |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,467,546 (GRCm39) |
D1409E |
probably benign |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Pla2g4e |
A |
T |
2: 120,013,194 (GRCm39) |
H375Q |
probably benign |
Het |
Prodh2 |
G |
A |
7: 30,205,877 (GRCm39) |
V238M |
probably damaging |
Het |
Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
Rock1 |
A |
T |
18: 10,080,514 (GRCm39) |
M1010K |
probably damaging |
Het |
Ros1 |
A |
G |
10: 52,038,800 (GRCm39) |
|
probably null |
Het |
Sim1 |
A |
T |
10: 50,857,708 (GRCm39) |
D486V |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Src |
A |
G |
2: 157,306,573 (GRCm39) |
D192G |
probably damaging |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,006,554 (GRCm39) |
Y54C |
probably damaging |
Het |
Try4 |
C |
T |
6: 41,281,905 (GRCm39) |
P164S |
possibly damaging |
Het |
Vegfc |
A |
T |
8: 54,634,130 (GRCm39) |
N270Y |
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 |
|
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 |
|
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'- TTCATCCCTAACTGTAAAGACGTC -3'
(R):5'- GGCCCTCTGTTATTAAAGGGAG -3'
Sequencing Primer
(F):5'- CAGAGGTTCAGTCCATTATCAAGGC -3'
(R):5'- CTCTGTTATTAAAGGGAGGTCCAAAG -3'
|
Posted On |
2015-07-07 |