Incidental Mutation 'R8701:Mlxipl'
| ID |
669059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlxipl
|
| Ensembl Gene |
ENSMUSG00000005373 |
| Gene Name |
MLX interacting protein-like |
| Synonyms |
ChREBP, WS-bHLH, bHLHd14, Wbscr14 |
| MMRRC Submission |
068555-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.525)
|
| Stock # |
R8701 (G1)
|
| Quality Score |
134.008 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135118744-135167236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135136045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 90
(F90S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005507]
[ENSMUST00000128691]
[ENSMUST00000129008]
[ENSMUST00000142385]
[ENSMUST00000153519]
[ENSMUST00000201977]
|
| AlphaFold |
Q99MZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005507
AA Change: F90S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: F90S
| 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 damaging
Transcript: ENSMUST00000128691
AA Change: F90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: F90S
| 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 damaging
Transcript: ENSMUST00000129008
AA Change: F90S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: F90S
| 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: F90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: F90S
| 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: F90S
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: F90S
| 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 |
possibly damaging
Transcript: ENSMUST00000201977
AA Change: F90S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144299
Gene: ENSMUSG00000005373
AA Change: F90S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,836,785 (GRCm39) |
I659V |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,592,276 (GRCm39) |
D24V |
possibly damaging |
Het |
| Agtr1b |
A |
T |
3: 20,370,256 (GRCm39) |
F117I |
probably damaging |
Het |
| Aldh3b2 |
A |
G |
19: 4,028,448 (GRCm39) |
E116G |
probably damaging |
Het |
| Alox5 |
T |
A |
6: 116,390,787 (GRCm39) |
I455F |
possibly damaging |
Het |
| Arnt |
C |
T |
3: 95,401,076 (GRCm39) |
S675F |
possibly damaging |
Het |
| Camkv |
A |
G |
9: 107,825,240 (GRCm39) |
T414A |
possibly damaging |
Het |
| Ccn5 |
G |
T |
2: 163,670,786 (GRCm39) |
G98W |
probably damaging |
Het |
| Cd209c |
C |
T |
8: 3,995,892 (GRCm39) |
R6H |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,827,504 (GRCm39) |
Y456* |
probably null |
Het |
| Cnr1 |
A |
G |
4: 33,944,739 (GRCm39) |
I376V |
probably benign |
Het |
| Cyp2j12 |
T |
A |
4: 96,009,810 (GRCm39) |
K183M |
possibly damaging |
Het |
| Dact3 |
G |
T |
7: 16,619,201 (GRCm39) |
R232L |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,226,768 (GRCm39) |
T378M |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,803,911 (GRCm39) |
D79E |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,240,739 (GRCm39) |
Y195* |
probably null |
Het |
| Elovl1 |
A |
T |
4: 118,287,707 (GRCm39) |
M1L |
probably benign |
Het |
| Fam107a |
A |
G |
14: 8,298,755 (GRCm38) |
F124L |
probably damaging |
Het |
| Fam219a |
A |
G |
4: 41,520,283 (GRCm39) |
M155T |
probably damaging |
Het |
| Gm28308 |
C |
G |
6: 52,140,430 (GRCm39) |
|
probably benign |
Het |
| Gpr153 |
C |
T |
4: 152,363,558 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
A |
5: 134,245,077 (GRCm39) |
I445N |
probably damaging |
Het |
| Gzmb |
A |
T |
14: 56,497,817 (GRCm39) |
V141E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,631,008 (GRCm39) |
M930K |
probably benign |
Het |
| Hunk |
T |
A |
16: 90,183,498 (GRCm39) |
F52Y |
probably damaging |
Het |
| Il18rap |
A |
G |
1: 40,578,501 (GRCm39) |
E304G |
probably benign |
Het |
| Klk14 |
A |
G |
7: 43,343,566 (GRCm39) |
S133G |
possibly damaging |
Het |
| Man2b1 |
T |
C |
8: 85,821,782 (GRCm39) |
S695P |
probably damaging |
Het |
| Mccc1 |
A |
T |
3: 36,049,933 (GRCm39) |
D86E |
probably benign |
Het |
| Mcu |
T |
A |
10: 59,303,475 (GRCm39) |
I121F |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,281,850 (GRCm39) |
D536G |
probably damaging |
Het |
| Naa11 |
T |
C |
5: 97,539,817 (GRCm39) |
S114G |
possibly damaging |
Het |
| Ncaph |
T |
C |
2: 126,948,058 (GRCm39) |
K676E |
probably benign |
Het |
| Neurl2 |
C |
T |
2: 164,675,054 (GRCm39) |
D103N |
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,030,121 (GRCm39) |
M278T |
probably benign |
Het |
| Or10g6 |
A |
G |
9: 39,933,815 (GRCm39) |
N42S |
probably damaging |
Het |
| Or4p4 |
A |
G |
2: 88,482,831 (GRCm39) |
I112V |
possibly damaging |
Het |
| Or51r1 |
A |
T |
7: 102,227,899 (GRCm39) |
M66L |
possibly damaging |
Het |
| Or8c19-ps1 |
A |
T |
9: 38,220,734 (GRCm39) |
L214F |
unknown |
Het |
| Or8g4 |
A |
T |
9: 39,662,210 (GRCm39) |
H176L |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,705,849 (GRCm39) |
Y484N |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,438,079 (GRCm39) |
Y3598C |
probably damaging |
Het |
| Plcg2 |
T |
A |
8: 118,308,416 (GRCm39) |
L336Q |
probably damaging |
Het |
| Ppp1r8 |
T |
C |
4: 132,557,953 (GRCm39) |
D207G |
possibly damaging |
Het |
| Prdm13 |
C |
T |
4: 21,678,615 (GRCm39) |
C625Y |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,862,495 (GRCm39) |
D480G |
possibly damaging |
Het |
| Rbm39 |
T |
A |
2: 156,003,507 (GRCm39) |
K291M |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rnf220 |
T |
C |
4: 117,347,190 (GRCm39) |
H74R |
probably damaging |
Het |
| Sp6 |
A |
T |
11: 96,913,090 (GRCm39) |
T268S |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,526 (GRCm39) |
V218D |
probably benign |
Het |
| Sphk2 |
A |
T |
7: 45,360,249 (GRCm39) |
V585E |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,155,026 (GRCm39) |
Q5638* |
probably null |
Het |
| Tas1r3 |
C |
T |
4: 155,945,503 (GRCm39) |
V573I |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,839,916 (GRCm39) |
S659P |
possibly damaging |
Het |
| Tead4 |
T |
A |
6: 128,219,529 (GRCm39) |
K237N |
probably damaging |
Het |
| Tex24 |
T |
A |
8: 27,835,152 (GRCm39) |
C227S |
probably benign |
Het |
| Tom1 |
A |
T |
8: 75,778,796 (GRCm39) |
T174S |
probably benign |
Het |
| Tpm3 |
C |
T |
3: 89,994,987 (GRCm39) |
R168C |
possibly damaging |
Het |
| Trpv3 |
A |
G |
11: 73,169,762 (GRCm39) |
E111G |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,677,191 (GRCm39) |
D2040G |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,692,402 (GRCm39) |
T955A |
probably damaging |
Het |
| Vmn2r11 |
G |
A |
5: 109,195,556 (GRCm39) |
A590V |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,825,165 (GRCm39) |
R382G |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,215,025 (GRCm39) |
D84E |
unknown |
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 |
|
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 |
|
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'- TATCCGTGAACTTGCAGGTC -3'
(R):5'- AATGATTCATGAGGGTCCGTG -3'
Sequencing Primer
(F):5'- TACGGACTTGGAGGATCCG -3'
(R):5'- TGGGTTGCGCAGGACCAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation