Incidental Mutation 'R7128:Mlxipl'
| ID |
552451 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7128 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135118744-135167236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135162705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 691
(L691P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005507]
[ENSMUST00000128691]
[ENSMUST00000129008]
[ENSMUST00000142385]
[ENSMUST00000153519]
|
| AlphaFold |
Q99MZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005507
AA Change: L691P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: L691P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000116358
Gene: ENSMUSG00000005373
AA Change: L42P
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
19 |
73 |
1.14e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128691
AA Change: L691P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: L691P
| 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 damaging
Transcript: ENSMUST00000153519
AA Change: L691P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: L691P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121668
Gene: ENSMUSG00000005373
AA Change: L49P
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
26 |
120 |
7.9e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,347,985 (GRCm39) |
D25G |
probably benign |
Het |
| Ak9 |
T |
C |
10: 41,300,713 (GRCm39) |
V1641A |
unknown |
Het |
| Akirin2 |
T |
C |
4: 34,562,435 (GRCm39) |
I118T |
probably benign |
Het |
| Aldh1l1 |
G |
T |
6: 90,540,361 (GRCm39) |
Q215H |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,326,971 (GRCm39) |
F495L |
possibly damaging |
Het |
| Atg4a-ps |
T |
A |
3: 103,553,063 (GRCm39) |
R93* |
probably null |
Het |
| Brd10 |
T |
C |
19: 29,693,881 (GRCm39) |
T1871A |
possibly damaging |
Het |
| Catsper3 |
A |
G |
13: 55,946,662 (GRCm39) |
I120V |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,579 (GRCm39) |
Q12R |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,417,188 (GRCm39) |
F39Y |
probably damaging |
Het |
| Chfr |
T |
C |
5: 110,291,502 (GRCm39) |
Y107H |
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Defb4 |
T |
A |
8: 19,251,220 (GRCm39) |
I29K |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,566,645 (GRCm39) |
T619A |
probably benign |
Het |
| Duxf1 |
T |
C |
10: 58,059,479 (GRCm39) |
Q425R |
unknown |
Het |
| Emc3 |
A |
G |
6: 113,494,881 (GRCm39) |
L179P |
probably damaging |
Het |
| Eno3 |
G |
C |
11: 70,549,430 (GRCm39) |
V84L |
possibly damaging |
Het |
| Fam110a |
C |
T |
2: 151,812,642 (GRCm39) |
V43M |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,165,860 (GRCm39) |
L194* |
probably null |
Het |
| Galnt14 |
T |
C |
17: 73,852,096 (GRCm39) |
T108A |
probably benign |
Het |
| Glipr2 |
T |
C |
4: 43,968,601 (GRCm39) |
I51T |
probably benign |
Het |
| Gm1527 |
C |
T |
3: 28,969,460 (GRCm39) |
S270F |
possibly damaging |
Het |
| Gm3336 |
A |
G |
8: 71,171,203 (GRCm39) |
M1V |
probably null |
Het |
| Gm4744 |
T |
C |
6: 40,927,310 (GRCm39) |
D15G |
|
Het |
| Gm4924 |
G |
A |
10: 82,214,533 (GRCm39) |
C777Y |
unknown |
Het |
| Gm5901 |
G |
A |
7: 105,027,408 (GRCm39) |
G306S |
probably damaging |
Het |
| Gon4l |
T |
A |
3: 88,802,999 (GRCm39) |
N1203K |
possibly damaging |
Het |
| Gpr161 |
A |
T |
1: 165,138,026 (GRCm39) |
Y204F |
possibly damaging |
Het |
| Igsf10 |
T |
C |
3: 59,236,326 (GRCm39) |
E1285G |
probably benign |
Het |
| Irx6 |
T |
C |
8: 93,403,994 (GRCm39) |
L187P |
probably damaging |
Het |
| Itgb1bp1 |
A |
G |
12: 21,322,089 (GRCm39) |
Y117H |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,358,143 (GRCm39) |
D202Y |
possibly damaging |
Het |
| Kctd9 |
T |
C |
14: 67,975,972 (GRCm39) |
S242P |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,686,088 (GRCm39) |
H2143R |
probably benign |
Het |
| Lynx1 |
G |
A |
15: 74,623,398 (GRCm39) |
R50* |
probably null |
Het |
| Lypd11 |
C |
T |
7: 24,425,424 (GRCm39) |
|
probably null |
Het |
| Map10 |
A |
G |
8: 126,398,592 (GRCm39) |
I662V |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,554,300 (GRCm39) |
S3998P |
unknown |
Het |
| Nalcn |
A |
T |
14: 123,831,914 (GRCm39) |
V120E |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,085,323 (GRCm39) |
S539P |
probably benign |
Het |
| Olfml3 |
T |
C |
3: 103,644,484 (GRCm39) |
M62V |
probably benign |
Het |
| Orm3 |
T |
C |
4: 63,276,062 (GRCm39) |
V158A |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,855,816 (GRCm39) |
S382P |
probably benign |
Het |
| Pced1b |
A |
T |
15: 97,282,479 (GRCm39) |
K173* |
probably null |
Het |
| Pdzd7 |
T |
C |
19: 45,016,388 (GRCm39) |
D911G |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,973,327 (GRCm39) |
D383G |
probably damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,725,292 (GRCm39) |
E46G |
probably benign |
Het |
| Pyroxd2 |
A |
T |
19: 42,719,842 (GRCm39) |
S455T |
probably benign |
Het |
| Rmnd5b |
T |
A |
11: 51,515,364 (GRCm39) |
I301F |
possibly damaging |
Het |
| Rnf225 |
A |
G |
7: 12,661,911 (GRCm39) |
N30S |
probably benign |
Het |
| Shisal2a |
G |
T |
4: 108,225,100 (GRCm39) |
T154K |
probably benign |
Het |
| Slfn3 |
T |
A |
11: 83,105,721 (GRCm39) |
C573S |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,351,632 (GRCm39) |
E887G |
probably damaging |
Het |
| Sp140 |
A |
T |
1: 85,547,846 (GRCm39) |
D191V |
possibly damaging |
Het |
| Srf |
C |
T |
17: 46,866,372 (GRCm39) |
S128N |
possibly damaging |
Het |
| Sult6b1 |
T |
C |
17: 79,202,070 (GRCm39) |
D144G |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
| Syt10 |
A |
T |
15: 89,698,314 (GRCm39) |
D343E |
probably damaging |
Het |
| Tgtp2 |
G |
A |
11: 48,950,135 (GRCm39) |
R146C |
possibly damaging |
Het |
| Tmcc3 |
A |
T |
10: 94,266,496 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
T |
6: 125,338,499 (GRCm39) |
T337S |
probably benign |
Het |
| Tns1 |
A |
T |
1: 74,034,463 (GRCm39) |
I144N |
|
Het |
| Trim11 |
A |
G |
11: 58,869,103 (GRCm39) |
E13G |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,789,137 (GRCm39) |
H569L |
possibly damaging |
Het |
| Ttbk2 |
T |
A |
2: 120,576,569 (GRCm39) |
I803L |
probably benign |
Het |
| Vmn1r21 |
G |
T |
6: 57,820,936 (GRCm39) |
N169K |
probably damaging |
Het |
| Vmn2r60 |
C |
T |
7: 41,844,536 (GRCm39) |
T633I |
probably damaging |
Het |
| Wt1 |
T |
C |
2: 104,957,670 (GRCm39) |
Y177H |
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 |
|
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'- TAGACAACAACAAGGTACGTGC -3'
(R):5'- TGCAGCATCAGGATGTACTCC -3'
Sequencing Primer
(F):5'- AACAAGGTACGTGCCGTCC -3'
(R):5'- GATGTACTCCGCTGTCTTCTGAAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation