Incidental Mutation 'R7737:Mlxipl'
| ID |
596313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlxipl
|
| Ensembl Gene |
ENSMUSG00000005373 |
| Gene Name |
MLX interacting protein-like |
| Synonyms |
WS-bHLH, Wbscr14, bHLHd14, ChREBP |
| MMRRC Submission |
045793-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.402)
|
| Stock # |
R7737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135089890-135138382 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135135381 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 793
(S793P)
|
| 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: S793P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: S793P
| 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: S144P
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
19 |
73 |
1.14e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128691
|
| SMART Domains |
Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
| 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 benign
Transcript: ENSMUST00000153519
|
| SMART Domains |
Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410141K09Rik |
A |
G |
13: 66,433,677 (GRCm38) |
|
probably null |
Het |
| 9530053A07Rik |
T |
A |
7: 28,157,073 (GRCm38) |
V2095E |
probably damaging |
Het |
| Adamts18 |
A |
T |
8: 113,736,934 (GRCm38) |
|
probably null |
Het |
| Akap3 |
T |
A |
6: 126,874,102 (GRCm38) |
M861K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,605,262 (GRCm38) |
T380A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,273,794 (GRCm38) |
E493G |
possibly damaging |
Het |
| Armc4 |
A |
G |
18: 7,217,890 (GRCm38) |
L608P |
probably damaging |
Het |
| Arvcf |
G |
A |
16: 18,397,101 (GRCm38) |
R119Q |
probably damaging |
Het |
| Asmt |
T |
C |
X: 170,676,440 (GRCm38) |
F228S |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 119,742,395 (GRCm38) |
V349E |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,241,673 (GRCm38) |
V233A |
possibly damaging |
Het |
| Brinp3 |
G |
T |
1: 146,682,594 (GRCm38) |
K85N |
probably damaging |
Het |
| Ccr6 |
G |
A |
17: 8,245,094 (GRCm38) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 134,270,201 (GRCm38) |
S644P |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,625,974 (GRCm38) |
A882V |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,381,012 (GRCm38) |
G783D |
probably damaging |
Het |
| Ephb1 |
T |
A |
9: 101,984,103 (GRCm38) |
I621F |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,701,263 (GRCm38) |
Y93* |
probably null |
Het |
| Gak |
A |
C |
5: 108,617,008 (GRCm38) |
L84R |
probably benign |
Het |
| Gm21671 |
AACT |
A |
5: 25,950,851 (GRCm38) |
|
probably benign |
Het |
| Gm5458 |
A |
T |
14: 19,599,737 (GRCm38) |
|
probably null |
Het |
| Gpatch3 |
C |
G |
4: 133,575,096 (GRCm38) |
Q113E |
probably benign |
Het |
| Gpld1 |
C |
A |
13: 24,975,726 (GRCm38) |
L426M |
probably damaging |
Het |
| Ighmbp2 |
G |
A |
19: 3,274,467 (GRCm38) |
P234S |
unknown |
Het |
| Itga6 |
G |
A |
2: 71,822,443 (GRCm38) |
V217I |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,144,404 (GRCm38) |
N872K |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,558,134 (GRCm38) |
Y446* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,170,643 (GRCm38) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,298,693 (GRCm38) |
W1320R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,496,438 (GRCm38) |
D1763G |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,815,446 (GRCm38) |
N2499Y |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,581,185 (GRCm38) |
|
probably null |
Het |
| Mettl15 |
T |
C |
2: 109,137,378 (GRCm38) |
K188E |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 40,003,278 (GRCm38) |
S208P |
probably damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,302,786 (GRCm38) |
Q803* |
probably null |
Het |
| Mtor |
A |
C |
4: 148,538,738 (GRCm38) |
E2015A |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,887,923 (GRCm38) |
Y2581F |
unknown |
Het |
| Myo7b |
A |
T |
18: 32,014,204 (GRCm38) |
Y95* |
probably null |
Het |
| Nf1 |
A |
G |
11: 79,545,488 (GRCm38) |
I1985V |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,221,362 (GRCm38) |
Q332* |
probably null |
Het |
| Nudt21 |
A |
T |
8: 94,022,833 (GRCm38) |
Y202N |
probably damaging |
Het |
| Olfr345 |
A |
T |
2: 36,640,620 (GRCm38) |
I194F |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,356,253 (GRCm38) |
S1176T |
probably damaging |
Het |
| Pramef17 |
A |
C |
4: 143,991,956 (GRCm38) |
S306A |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,457,541 (GRCm38) |
|
probably benign |
Het |
| Rbmxl1 |
A |
G |
8: 78,505,623 (GRCm38) |
S364P |
unknown |
Het |
| Rnf24 |
T |
A |
2: 131,303,496 (GRCm38) |
K131N |
probably benign |
Het |
| Scai |
T |
A |
2: 39,123,022 (GRCm38) |
Q132L |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,723,953 (GRCm38) |
R49G |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,788,677 (GRCm38) |
E152G |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,896,762 (GRCm38) |
M316K |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,210,710 (GRCm38) |
A427S |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm38) |
|
probably benign |
Het |
| Stk16 |
G |
T |
1: 75,211,351 (GRCm38) |
C8F |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,942,848 (GRCm38) |
C1834R |
probably damaging |
Het |
| Tie1 |
C |
T |
4: 118,478,857 (GRCm38) |
|
probably null |
Het |
| Timp2 |
A |
G |
11: 118,303,895 (GRCm38) |
I156T |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,491,610 (GRCm38) |
M286T |
possibly damaging |
Het |
| Tmx4 |
T |
A |
2: 134,639,668 (GRCm38) |
M112L |
probably benign |
Het |
| Trank1 |
G |
T |
9: 111,366,012 (GRCm38) |
E1035* |
probably null |
Het |
| Trim5 |
C |
T |
7: 104,279,564 (GRCm38) |
V57M |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,991,566 (GRCm38) |
S1391G |
probably benign |
Het |
| Vmn1r72 |
A |
T |
7: 11,669,707 (GRCm38) |
S271R |
probably damaging |
Het |
| Xpo5 |
G |
A |
17: 46,236,090 (GRCm38) |
|
probably null |
Het |
| Zfp592 |
A |
T |
7: 81,025,193 (GRCm38) |
H635L |
probably damaging |
Het |
| Zfp791 |
A |
T |
8: 85,112,215 (GRCm38) |
N62K |
probably benign |
Het |
| Zmynd11 |
G |
A |
13: 9,695,139 (GRCm38) |
T248M |
probably damaging |
Het |
|
| Other mutations in Mlxipl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Mlxipl
|
APN |
5 |
135,132,778 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01872:Mlxipl
|
APN |
5 |
135,113,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02694:Mlxipl
|
APN |
5 |
135,124,018 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03070:Mlxipl
|
APN |
5 |
135,132,453 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
Scarlet
|
UTSW |
5 |
135,134,030 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
H8441:Mlxipl
|
UTSW |
5 |
135,123,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03054:Mlxipl
|
UTSW |
5 |
135,133,256 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0003:Mlxipl
|
UTSW |
5 |
135,133,189 (GRCm38) |
unclassified |
probably benign |
|
|
R0126:Mlxipl
|
UTSW |
5 |
135,132,323 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0458:Mlxipl
|
UTSW |
5 |
135,133,370 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0513:Mlxipl
|
UTSW |
5 |
135,137,263 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0580:Mlxipl
|
UTSW |
5 |
135,123,975 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0744:Mlxipl
|
UTSW |
5 |
135,132,475 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0827:Mlxipl
|
UTSW |
5 |
135,132,738 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1052:Mlxipl
|
UTSW |
5 |
135,113,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1241:Mlxipl
|
UTSW |
5 |
135,132,718 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1795:Mlxipl
|
UTSW |
5 |
135,107,170 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1903:Mlxipl
|
UTSW |
5 |
135,133,568 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2038:Mlxipl
|
UTSW |
5 |
135,106,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2064:Mlxipl
|
UTSW |
5 |
135,132,777 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R2069:Mlxipl
|
UTSW |
5 |
135,107,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2081:Mlxipl
|
UTSW |
5 |
135,113,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2095:Mlxipl
|
UTSW |
5 |
135,122,120 (GRCm38) |
splice site |
probably benign |
|
|
R3114:Mlxipl
|
UTSW |
5 |
135,133,662 (GRCm38) |
splice site |
probably benign |
|
|
R4018:Mlxipl
|
UTSW |
5 |
135,132,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4090:Mlxipl
|
UTSW |
5 |
135,132,527 (GRCm38) |
missense |
probably benign |
0.33 |
|
R4321:Mlxipl
|
UTSW |
5 |
135,135,450 (GRCm38) |
nonsense |
probably null |
|
|
R4414:Mlxipl
|
UTSW |
5 |
135,137,399 (GRCm38) |
unclassified |
probably benign |
|
|
R5706:Mlxipl
|
UTSW |
5 |
135,133,604 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6088:Mlxipl
|
UTSW |
5 |
135,134,030 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6508:Mlxipl
|
UTSW |
5 |
135,128,620 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6704:Mlxipl
|
UTSW |
5 |
135,137,240 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7060:Mlxipl
|
UTSW |
5 |
135,132,315 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7095:Mlxipl
|
UTSW |
5 |
135,134,030 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7128:Mlxipl
|
UTSW |
5 |
135,133,851 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7464:Mlxipl
|
UTSW |
5 |
135,133,628 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7510:Mlxipl
|
UTSW |
5 |
135,133,118 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7669:Mlxipl
|
UTSW |
5 |
135,132,370 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7806:Mlxipl
|
UTSW |
5 |
135,134,543 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7910:Mlxipl
|
UTSW |
5 |
135,132,409 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8118:Mlxipl
|
UTSW |
5 |
135,137,248 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R8363:Mlxipl
|
UTSW |
5 |
135,107,076 (GRCm38) |
missense |
probably benign |
0.18 |
|
R8701:Mlxipl
|
UTSW |
5 |
135,107,191 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8725:Mlxipl
|
UTSW |
5 |
135,128,629 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9235:Mlxipl
|
UTSW |
5 |
135,128,687 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9566:Mlxipl
|
UTSW |
5 |
135,123,762 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9727:Mlxipl
|
UTSW |
5 |
135,121,534 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGAGTGGATAACCCTTGG -3'
(R):5'- TGCGTGCACATGTGTACATATG -3'
Sequencing Primer
(F):5'- CCTTGGTGGGAGCGAAAAG -3'
(R):5'- TCACTGGAAATTGAACTCAGGGTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation