Incidental Mutation 'R8118:Mlxipl'
| ID |
631329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlxipl
|
| Ensembl Gene |
ENSMUSG00000005373 |
| Gene Name |
MLX interacting protein-like |
| Synonyms |
ChREBP, WS-bHLH, bHLHd14, Wbscr14 |
| MMRRC Submission |
067547-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.532)
|
| Stock # |
R8118 (G1)
|
| Quality Score |
217.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135118744-135167236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 135166102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 828
(L828R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005507]
[ENSMUST00000128691]
[ENSMUST00000129008]
[ENSMUST00000142385]
[ENSMUST00000153519]
|
| AlphaFold |
Q99MZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005507
AA Change: L828R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: L828R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.2%
- 20x: 91.1%
|
| Validation Efficiency |
97% (68/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
T |
C |
16: 85,592,821 (GRCm39) |
D792G |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,042,384 (GRCm39) |
H417R |
probably damaging |
Het |
| Agr2 |
A |
G |
12: 36,046,106 (GRCm39) |
D79G |
probably benign |
Het |
| Ankle1 |
T |
C |
8: 71,860,279 (GRCm39) |
S286P |
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,643,164 (GRCm39) |
S1488P |
probably damaging |
Het |
| Atp6v0a2 |
T |
C |
5: 124,789,837 (GRCm39) |
M421T |
probably damaging |
Het |
| Cdk17 |
C |
A |
10: 93,052,252 (GRCm39) |
Q111K |
possibly damaging |
Het |
| Cimap2 |
T |
A |
4: 106,470,595 (GRCm39) |
R192S |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,204,834 (GRCm39) |
S623P |
probably benign |
Het |
| Dgka |
C |
T |
10: 128,558,318 (GRCm39) |
|
probably null |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Dsg2 |
A |
G |
18: 20,715,858 (GRCm39) |
I267V |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,948,853 (GRCm39) |
Y899H |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,871,400 (GRCm39) |
F3664L |
probably benign |
Het |
| Fbxo47 |
C |
T |
11: 97,770,341 (GRCm39) |
C17Y |
probably benign |
Het |
| Gm2888 |
G |
T |
14: 3,037,628 (GRCm38) |
V207F |
probably benign |
Het |
| Gpr61 |
A |
G |
3: 108,057,888 (GRCm39) |
S258P |
probably damaging |
Het |
| H2-T9 |
C |
T |
17: 36,438,582 (GRCm39) |
V270M |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,424,439 (GRCm39) |
H700Y |
probably benign |
Het |
| Hs3st2 |
C |
T |
7: 120,996,651 (GRCm39) |
T154I |
probably benign |
Het |
| Inf2 |
A |
T |
12: 112,567,871 (GRCm39) |
H167L |
probably damaging |
Het |
| Ints3 |
C |
T |
3: 90,307,606 (GRCm39) |
|
probably null |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Itgal |
C |
A |
7: 126,910,417 (GRCm39) |
Q509K |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,925,971 (GRCm39) |
|
probably null |
Het |
| Krtap4-13 |
C |
T |
11: 99,700,224 (GRCm39) |
C145Y |
unknown |
Het |
| Large1 |
A |
G |
8: 73,858,572 (GRCm39) |
S99P |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,261,533 (GRCm39) |
I1496L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,464,550 (GRCm39) |
I1647F |
probably damaging |
Het |
| Map3k10 |
A |
G |
7: 27,372,842 (GRCm39) |
V203A |
possibly damaging |
Het |
| Mcmdc2 |
T |
A |
1: 9,986,599 (GRCm39) |
N166K |
possibly damaging |
Het |
| Mnat1 |
A |
G |
12: 73,265,864 (GRCm39) |
I253V |
probably benign |
Het |
| Mtfp1 |
A |
G |
11: 4,043,910 (GRCm39) |
S107P |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,384,631 (GRCm39) |
Y65F |
possibly damaging |
Het |
| Nelfb |
A |
T |
2: 25,095,171 (GRCm39) |
D339E |
possibly damaging |
Het |
| Nlrc3 |
T |
A |
16: 3,783,495 (GRCm39) |
I20L |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,207,451 (GRCm39) |
M1501K |
probably benign |
Het |
| Or14a258 |
A |
T |
7: 86,034,976 (GRCm39) |
C297* |
probably null |
Het |
| Or1ad8 |
A |
G |
11: 50,898,327 (GRCm39) |
H176R |
probably damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,863 (GRCm38) |
I73T |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,608 (GRCm39) |
D84G |
probably benign |
Het |
| Or5b123 |
T |
A |
19: 13,597,109 (GRCm39) |
N151K |
probably damaging |
Het |
| Or5g29 |
T |
A |
2: 85,421,332 (GRCm39) |
Y149* |
probably null |
Het |
| Palm3 |
A |
G |
8: 84,756,438 (GRCm39) |
E650G |
probably damaging |
Het |
| Prps1l1 |
C |
A |
12: 35,035,340 (GRCm39) |
L152M |
probably damaging |
Het |
| Rgs7bp |
C |
A |
13: 105,189,629 (GRCm39) |
V57F |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,214,458 (GRCm39) |
V171D |
unknown |
Het |
| Sf3a2 |
T |
C |
10: 80,639,474 (GRCm39) |
Y155H |
probably damaging |
Het |
| Sfrp1 |
T |
G |
8: 23,902,000 (GRCm39) |
L67R |
probably damaging |
Het |
| Shank2 |
A |
T |
7: 143,963,612 (GRCm39) |
I407L |
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,722,872 (GRCm39) |
T902A |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 113,013,691 (GRCm39) |
S353R |
possibly damaging |
Het |
| Srrm2 |
T |
A |
17: 24,027,057 (GRCm39) |
I87N |
unknown |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Svs3b |
A |
G |
2: 164,097,926 (GRCm39) |
S132P |
probably damaging |
Het |
| Tbc1d17 |
G |
T |
7: 44,492,426 (GRCm39) |
F412L |
probably benign |
Het |
| Tex29 |
A |
T |
8: 11,904,263 (GRCm39) |
E116D |
unknown |
Het |
| Tmem204 |
T |
C |
17: 25,299,312 (GRCm39) |
D69G |
possibly damaging |
Het |
| Ttll10 |
G |
A |
4: 156,129,219 (GRCm39) |
R308C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,508 (GRCm39) |
I24462F |
probably damaging |
Het |
| Tubg2 |
A |
G |
11: 101,052,304 (GRCm39) |
E411G |
probably damaging |
Het |
| Ugt2b38 |
T |
C |
5: 87,571,630 (GRCm39) |
N134S |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,276,485 (GRCm39) |
T351A |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,065,996 (GRCm39) |
L92S |
probably damaging |
Het |
| Vmn2r20 |
A |
T |
6: 123,373,429 (GRCm39) |
I471N |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Wnk2 |
A |
G |
13: 49,244,459 (GRCm39) |
V459A |
probably damaging |
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 |
|
|
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 |
|
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'- GACTTCATCCCTAACTGTAAAGACGTC -3'
(R):5'- TTCCAGATCTGCAGGGAAAC -3'
Sequencing Primer
(F):5'- CAGAGGTTCAGTCCATTATCAAGGC -3'
(R):5'- ACGGCCAGCCAGGATTTTTAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation