Incidental Mutation 'R6508:Mlxipl'
| ID |
523986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlxipl
|
| Ensembl Gene |
ENSMUSG00000005373 |
| Gene Name |
MLX interacting protein-like |
| Synonyms |
ChREBP, WS-bHLH, bHLHd14, Wbscr14 |
| MMRRC Submission |
044638-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.525)
|
| Stock # |
R6508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135118744-135167236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 135157474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 337
(A337S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005507]
[ENSMUST00000128691]
[ENSMUST00000129008]
[ENSMUST00000142385]
[ENSMUST00000153519]
[ENSMUST00000201977]
|
| AlphaFold |
Q99MZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005507
AA Change: A337S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: A337S
| 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: ENSMUST00000128691
AA Change: A337S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: A337S
| 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
AA Change: A337S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: A337S
| 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
AA Change: A337S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: A337S
| 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
AA Change: A337S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: A337S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201977
|
| SMART Domains |
Protein: ENSMUSP00000144299
Gene: ENSMUSG00000005373
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
G |
A |
4: 144,291,590 (GRCm39) |
R39* |
probably null |
Het |
| Brca2 |
A |
T |
5: 150,460,058 (GRCm39) |
E444D |
possibly damaging |
Het |
| Camkk2 |
G |
T |
5: 122,884,382 (GRCm39) |
N346K |
probably damaging |
Het |
| Car4 |
C |
A |
11: 84,856,469 (GRCm39) |
D252E |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,958,895 (GRCm39) |
K649R |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,557,231 (GRCm39) |
Y1966H |
probably damaging |
Het |
| Crppa |
C |
T |
12: 36,476,298 (GRCm39) |
A180V |
possibly damaging |
Het |
| Cts6 |
T |
A |
13: 61,344,221 (GRCm39) |
H277L |
probably damaging |
Het |
| Dcc |
G |
T |
18: 71,439,144 (GRCm39) |
P1246Q |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,188,774 (GRCm39) |
T1739I |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,525 (GRCm39) |
R26H |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,093,516 (GRCm39) |
K1008E |
probably damaging |
Het |
| Htr2b |
T |
C |
1: 86,030,186 (GRCm39) |
T170A |
possibly damaging |
Het |
| Irgm2 |
A |
G |
11: 58,110,327 (GRCm39) |
E18G |
probably benign |
Het |
| Kdm1a |
A |
T |
4: 136,281,621 (GRCm39) |
V630E |
probably damaging |
Het |
| Keap1 |
G |
A |
9: 21,143,010 (GRCm39) |
T501I |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,194,325 (GRCm39) |
H424L |
unknown |
Het |
| Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,363,535 (GRCm39) |
D3364V |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,272,253 (GRCm39) |
G794S |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,433,452 (GRCm39) |
Q34R |
probably benign |
Het |
| Mettl4 |
T |
C |
17: 95,051,373 (GRCm39) |
E148G |
probably damaging |
Het |
| Mgat3 |
T |
C |
15: 80,096,225 (GRCm39) |
S351P |
possibly damaging |
Het |
| Mllt1 |
A |
T |
17: 57,234,054 (GRCm39) |
I44N |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,572,973 (GRCm39) |
F254L |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,944,973 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
C |
T |
19: 13,726,718 (GRCm39) |
P83S |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,414,390 (GRCm39) |
R912* |
probably null |
Het |
| Pcdh17 |
A |
G |
14: 84,685,419 (GRCm39) |
N629D |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,959,479 (GRCm39) |
I170T |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,956,290 (GRCm39) |
Y746C |
probably damaging |
Het |
| Pramel29 |
A |
T |
4: 143,934,171 (GRCm39) |
L312* |
probably null |
Het |
| Pum2 |
T |
C |
12: 8,798,861 (GRCm39) |
Y991H |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,198,077 (GRCm39) |
V185D |
probably damaging |
Het |
| Scarb1 |
A |
T |
5: 125,381,389 (GRCm39) |
S52T |
possibly damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,053,887 (GRCm39) |
S18P |
probably benign |
Het |
| Stard13 |
G |
A |
5: 150,986,754 (GRCm39) |
T134I |
probably benign |
Het |
| Tbc1d32 |
C |
T |
10: 56,100,786 (GRCm39) |
C64Y |
probably damaging |
Het |
| Tll1 |
T |
G |
8: 64,551,494 (GRCm39) |
I296L |
probably damaging |
Het |
| Tmem229b |
T |
G |
12: 79,011,680 (GRCm39) |
T84P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,757 (GRCm39) |
T32782A |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,631 (GRCm39) |
V150I |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,290 (GRCm39) |
F705L |
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 |
|
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 |
|
R9727:Mlxipl
|
UTSW |
5 |
135,150,388 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTCTTGTAGAAGCCTTCCAC -3'
(R):5'- TGGTTGGCCCAGTAAATGTC -3'
Sequencing Primer
(F):5'- AACCTCTCCAGTGTGGGAACTG -3'
(R):5'- GTTGGCCCAGTAAATGTCTTTTTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation