Incidental Mutation 'R9727:Mlxipl'
| ID |
731091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlxipl
|
| Ensembl Gene |
ENSMUSG00000005373 |
| Gene Name |
MLX interacting protein-like |
| Synonyms |
ChREBP, WS-bHLH, bHLHd14, Wbscr14 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.532)
|
| Stock # |
R9727 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135118744-135167236 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 135150388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 143
(C143*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005507]
[ENSMUST00000128691]
[ENSMUST00000129008]
[ENSMUST00000142385]
[ENSMUST00000153519]
[ENSMUST00000201977]
|
| AlphaFold |
Q99MZ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005507
AA Change: C143*
|
| SMART Domains |
Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: C143*
| 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 null
Transcript: ENSMUST00000128691
AA Change: C143*
|
| SMART Domains |
Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: C143*
| 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: C143*
|
| SMART Domains |
Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: C143*
| 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 null
Transcript: ENSMUST00000142385
AA Change: C143*
|
| SMART Domains |
Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: C143*
| 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 null
Transcript: ENSMUST00000153519
AA Change: C143*
|
| SMART Domains |
Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: C143*
| 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 null
Transcript: ENSMUST00000201977
AA Change: C143*
|
| SMART Domains |
Protein: ENSMUSP00000144299
Gene: ENSMUSG00000005373
AA Change: C143*
| 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: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akirin2 |
A |
G |
4: 34,565,248 (GRCm39) |
Y165C |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,286,473 (GRCm39) |
I702V |
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,678,720 (GRCm39) |
Y472C |
probably damaging |
Het |
| Atp13a4 |
T |
G |
16: 29,228,589 (GRCm39) |
S964R |
|
Het |
| Atp1a2 |
T |
A |
1: 172,118,936 (GRCm39) |
I69F |
probably benign |
Het |
| Bub1 |
T |
C |
2: 127,652,609 (GRCm39) |
D586G |
possibly damaging |
Het |
| Ccdc177 |
C |
A |
12: 80,806,044 (GRCm39) |
A77S |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,171,204 (GRCm39) |
W425R |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,471,820 (GRCm39) |
E37G |
probably benign |
Het |
| Ccsap |
T |
C |
8: 124,572,169 (GRCm39) |
D111G |
possibly damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
C |
A |
7: 16,892,262 (GRCm39) |
T335K |
|
Het |
| Col22a1 |
A |
T |
15: 71,849,123 (GRCm39) |
W322R |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,415,818 (GRCm39) |
V1443A |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,523,510 (GRCm39) |
Q2000* |
probably null |
Het |
| Dock7 |
G |
T |
4: 98,875,568 (GRCm39) |
T1154K |
unknown |
Het |
| Dot1l |
T |
C |
10: 80,628,382 (GRCm39) |
L1140P |
unknown |
Het |
| Dst |
G |
A |
1: 34,314,877 (GRCm39) |
V4489M |
probably damaging |
Het |
| Duox2 |
G |
A |
2: 122,116,998 (GRCm39) |
R960* |
probably null |
Het |
| Elavl2 |
T |
C |
4: 91,169,495 (GRCm39) |
I97V |
probably benign |
Het |
| Emp1 |
G |
T |
6: 135,358,016 (GRCm39) |
A121S |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,702 (GRCm39) |
R1594S |
probably damaging |
Het |
| Fam186b |
C |
T |
15: 99,171,669 (GRCm39) |
M859I |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,159,137 (GRCm39) |
V3345A |
probably damaging |
Het |
| Gtf2f1 |
A |
T |
17: 57,318,005 (GRCm39) |
N10K |
possibly damaging |
Het |
| Hid1 |
T |
G |
11: 115,245,939 (GRCm39) |
K384N |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,674,566 (GRCm39) |
R579G |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,857,554 (GRCm39) |
V1078D |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,357,001 (GRCm39) |
M43K |
probably damaging |
Het |
| Kdm3a |
A |
T |
6: 71,569,094 (GRCm39) |
Y1134* |
probably null |
Het |
| Kif12 |
T |
A |
4: 63,085,978 (GRCm39) |
N429I |
probably damaging |
Het |
| Kif18a |
C |
T |
2: 109,118,464 (GRCm39) |
T93I |
probably damaging |
Het |
| Krtap9-5 |
T |
A |
11: 99,839,340 (GRCm39) |
C14S |
possibly damaging |
Het |
| Lgals8 |
A |
T |
13: 12,462,038 (GRCm39) |
M264K |
possibly damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,862,168 (GRCm39) |
Q1587L |
possibly damaging |
Het |
| Mvp |
A |
T |
7: 126,595,040 (GRCm39) |
H268Q |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,843,825 (GRCm39) |
Y924C |
possibly damaging |
Het |
| Or4f52 |
A |
T |
2: 111,061,961 (GRCm39) |
M59K |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,487,231 (GRCm39) |
N449S |
probably benign |
Het |
| Pot1b |
A |
C |
17: 55,999,795 (GRCm39) |
I210S |
possibly damaging |
Het |
| Ptrh1 |
T |
A |
2: 32,665,854 (GRCm39) |
W5R |
probably benign |
Het |
| Rasgrp3 |
A |
G |
17: 75,810,239 (GRCm39) |
H313R |
probably damaging |
Het |
| Ric1 |
A |
T |
19: 29,575,258 (GRCm39) |
I984F |
probably damaging |
Het |
| Rin2 |
G |
A |
2: 145,702,506 (GRCm39) |
A401T |
possibly damaging |
Het |
| Rmdn3 |
C |
A |
2: 118,968,827 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
T |
16: 55,990,169 (GRCm39) |
H639L |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,471,829 (GRCm39) |
S1270P |
probably damaging |
Het |
| Slc22a28 |
T |
A |
19: 8,108,818 (GRCm39) |
E108V |
probably benign |
Het |
| Slc7a5 |
A |
G |
8: 122,613,085 (GRCm39) |
I331T |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,611,160 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Srebf2 |
T |
A |
15: 82,076,506 (GRCm39) |
F759I |
possibly damaging |
Het |
| Thumpd2 |
A |
T |
17: 81,345,585 (GRCm39) |
D304E |
probably damaging |
Het |
| Tmem59 |
A |
G |
4: 107,050,547 (GRCm39) |
E226G |
probably benign |
Het |
| Trpv1 |
A |
C |
11: 73,130,347 (GRCm39) |
D151A |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,651,751 (GRCm39) |
D607G |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,140,735 (GRCm39) |
V1218E |
probably damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,288,165 (GRCm39) |
M1L |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,423,477 (GRCm39) |
A1130V |
probably damaging |
Het |
| Wdr4 |
T |
C |
17: 31,718,045 (GRCm39) |
E343G |
probably benign |
Het |
| Zbtb34 |
C |
A |
2: 33,301,533 (GRCm39) |
R336L |
probably benign |
Het |
| Zfp607b |
T |
C |
7: 27,403,125 (GRCm39) |
V527A |
probably benign |
Het |
| Zfp949 |
T |
A |
9: 88,451,913 (GRCm39) |
C494* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTAGTAGAACTTGTAGCGAGAG -3'
(R):5'- ATCAGTGCGAAGGGTGACAC -3'
Sequencing Primer
(F):5'- TTCTAGCATGCAGGAAGCTC -3'
(R):5'- GTGACACCCCAGATGGTCAATCTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation