Incidental Mutation 'R7510:Mlxipl'
| ID |
582019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlxipl
|
| Ensembl Gene |
ENSMUSG00000005373 |
| Gene Name |
MLX interacting protein-like |
| Synonyms |
ChREBP, WS-bHLH, bHLHd14, Wbscr14 |
| MMRRC Submission |
045583-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.532)
|
| Stock # |
R7510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135118744-135167236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135161972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 548
(E548G)
|
| 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: E548G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: E548G
| 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 damaging
Transcript: ENSMUST00000128691
AA Change: E548G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: E548G
| 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 null
Transcript: ENSMUST00000129008
AA Change: *557W
|
| SMART Domains |
Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: *557W
| 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 damaging
Transcript: ENSMUST00000153519
AA Change: E548G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: E548G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
| Validation Efficiency |
97% (65/67) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b1 |
C |
T |
10: 98,829,758 (GRCm39) |
R320C |
probably benign |
Het |
| Bend4 |
A |
G |
5: 67,584,727 (GRCm39) |
F66L |
unknown |
Het |
| Brca2 |
T |
C |
5: 150,460,156 (GRCm39) |
V477A |
possibly damaging |
Het |
| Brms1l |
A |
T |
12: 55,892,107 (GRCm39) |
K134* |
probably null |
Het |
| Catsper1 |
A |
T |
19: 5,389,578 (GRCm39) |
T498S |
probably benign |
Het |
| Ccdc177 |
C |
A |
12: 80,804,457 (GRCm39) |
V606L |
unknown |
Het |
| D030056L22Rik |
G |
T |
19: 18,690,853 (GRCm39) |
A56S |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,869,975 (GRCm39) |
N815S |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Fancf |
A |
G |
7: 51,511,953 (GRCm39) |
V17A |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,776,948 (GRCm39) |
H361Q |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,333 (GRCm39) |
S293P |
probably damaging |
Het |
| Ghsr |
A |
T |
3: 27,426,523 (GRCm39) |
D193V |
probably benign |
Het |
| Gm14403 |
T |
A |
2: 177,200,403 (GRCm39) |
N116K |
probably benign |
Het |
| Gpr31b |
A |
G |
17: 13,270,557 (GRCm39) |
L204P |
probably damaging |
Het |
| Hexim1 |
A |
G |
11: 103,008,067 (GRCm39) |
E107G |
probably benign |
Het |
| Hspa14 |
T |
C |
2: 3,499,159 (GRCm39) |
S212G |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,514,035 (GRCm39) |
H80Q |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,308,013 (GRCm39) |
T267A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,042,268 (GRCm39) |
H146Q |
possibly damaging |
Het |
| Larp4 |
T |
C |
15: 99,891,258 (GRCm39) |
F228L |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,659,712 (GRCm39) |
V1288E |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,008,321 (GRCm39) |
T194A |
possibly damaging |
Het |
| Mlana |
G |
A |
19: 29,682,072 (GRCm39) |
G42S |
probably benign |
Het |
| Mmab |
A |
T |
5: 114,573,283 (GRCm39) |
C228S |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nrf1 |
C |
T |
6: 30,151,633 (GRCm39) |
T490I |
possibly damaging |
Het |
| Numbl |
A |
G |
7: 26,971,412 (GRCm39) |
|
probably null |
Het |
| Or12e13 |
T |
A |
2: 87,663,872 (GRCm39) |
I163K |
probably damaging |
Het |
| Or13c7 |
A |
G |
4: 43,854,482 (GRCm39) |
T58A |
probably benign |
Het |
| Or5bw2 |
C |
T |
7: 6,572,960 (GRCm39) |
|
probably benign |
Het |
| Or5v1b |
T |
A |
17: 37,841,480 (GRCm39) |
I204N |
probably damaging |
Het |
| Or6c3b |
G |
T |
10: 129,527,789 (GRCm39) |
N40K |
probably damaging |
Het |
| Or9g8 |
T |
A |
2: 85,607,153 (GRCm39) |
V75D |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,818,947 (GRCm39) |
D96N |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,645 (GRCm39) |
Y584H |
probably damaging |
Het |
| Pde7b |
T |
C |
10: 20,288,761 (GRCm39) |
D310G |
possibly damaging |
Het |
| Plin5 |
T |
A |
17: 56,420,975 (GRCm39) |
H230L |
probably damaging |
Het |
| Ppp1r13l |
A |
C |
7: 19,102,726 (GRCm39) |
E47A |
possibly damaging |
Het |
| Prdm5 |
C |
T |
6: 65,904,976 (GRCm39) |
H536Y |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,353,451 (GRCm39) |
R728G |
possibly damaging |
Het |
| Prkca |
A |
T |
11: 107,874,820 (GRCm39) |
V374E |
possibly damaging |
Het |
| Prss3 |
A |
T |
6: 41,352,044 (GRCm39) |
L73* |
probably null |
Het |
| Prss51 |
G |
A |
14: 64,333,489 (GRCm39) |
D33N |
probably damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,006,659 (GRCm39) |
V479A |
probably damaging |
Het |
| Rpl36a-ps1 |
G |
A |
14: 99,231,666 (GRCm39) |
T24I |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,582,327 (GRCm39) |
I182V |
possibly damaging |
Het |
| Saa2 |
T |
A |
7: 46,402,933 (GRCm39) |
D61E |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,106,006 (GRCm39) |
I22F |
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,800,057 (GRCm39) |
P403L |
probably damaging |
Het |
| Sap130 |
A |
G |
18: 31,844,268 (GRCm39) |
T813A |
probably damaging |
Het |
| Scfd2 |
A |
G |
5: 74,372,988 (GRCm39) |
F629S |
probably damaging |
Het |
| Sec61a1 |
A |
T |
6: 88,489,585 (GRCm39) |
F119I |
probably benign |
Het |
| Serpinb9 |
T |
A |
13: 33,194,768 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,092,477 (GRCm39) |
C966F |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,127,693 (GRCm39) |
V169A |
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,735,565 (GRCm39) |
S1463P |
probably benign |
Het |
| Tfec |
T |
A |
6: 16,835,232 (GRCm39) |
H182L |
probably benign |
Het |
| Tigd5 |
T |
C |
15: 75,782,268 (GRCm39) |
V210A |
probably benign |
Het |
| Tssc4 |
G |
A |
7: 142,623,718 (GRCm39) |
E9K |
possibly damaging |
Het |
| Txk |
C |
G |
5: 72,893,726 (GRCm39) |
C18S |
unknown |
Het |
| Uaca |
G |
A |
9: 60,757,487 (GRCm39) |
|
probably null |
Het |
| Vmn2r1 |
A |
C |
3: 63,993,922 (GRCm39) |
K89N |
probably damaging |
Het |
| Zfp160 |
G |
A |
17: 21,246,655 (GRCm39) |
E402K |
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 |
|
|
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 |
|
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'- CTCTGAAAGGCATGGGAAAGCC -3'
(R):5'- CTATTTACCGCTGGAGGCTG -3'
Sequencing Primer
(F):5'- AGAGGGCTGGGGTCTCAG -3'
(R):5'- AGAGCCGCTCTGCTTTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation