Incidental Mutation 'IGL03011:Mlxip'
ID |
407752 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mlxip
|
Ensembl Gene |
ENSMUSG00000038342 |
Gene Name |
MLX interacting protein |
Synonyms |
Mir, bHLHe36, Mondoa |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.309)
|
Stock # |
IGL03011
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
123532861-123595995 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123584014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 526
(S526P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068237]
[ENSMUST00000111596]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068237
AA Change: S526P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000064943 Gene: ENSMUSG00000038342 AA Change: S526P
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
low complexity region
|
27 |
44 |
N/A |
INTRINSIC |
low complexity region
|
47 |
73 |
N/A |
INTRINSIC |
PDB:4GNT|B
|
157 |
177 |
8e-7 |
PDB |
low complexity region
|
347 |
363 |
N/A |
INTRINSIC |
low complexity region
|
436 |
467 |
N/A |
INTRINSIC |
low complexity region
|
514 |
539 |
N/A |
INTRINSIC |
low complexity region
|
557 |
570 |
N/A |
INTRINSIC |
low complexity region
|
632 |
643 |
N/A |
INTRINSIC |
low complexity region
|
686 |
704 |
N/A |
INTRINSIC |
HLH
|
723 |
773 |
2.81e-9 |
SMART |
low complexity region
|
880 |
894 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111596
AA Change: S526P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000107223 Gene: ENSMUSG00000038342 AA Change: S526P
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
low complexity region
|
27 |
44 |
N/A |
INTRINSIC |
low complexity region
|
47 |
73 |
N/A |
INTRINSIC |
PDB:4GNT|B
|
157 |
177 |
6e-7 |
PDB |
low complexity region
|
347 |
363 |
N/A |
INTRINSIC |
low complexity region
|
436 |
467 |
N/A |
INTRINSIC |
low complexity region
|
514 |
539 |
N/A |
INTRINSIC |
low complexity region
|
557 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135961
|
SMART Domains |
Protein: ENSMUSP00000120510 Gene: ENSMUSG00000038342
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
low complexity region
|
78 |
89 |
N/A |
INTRINSIC |
low complexity region
|
132 |
150 |
N/A |
INTRINSIC |
HLH
|
169 |
219 |
2.81e-9 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Apob |
C |
A |
12: 8,047,883 (GRCm39) |
P941Q |
probably damaging |
Het |
Armc9 |
T |
A |
1: 86,127,638 (GRCm39) |
|
probably null |
Het |
Arpc5l |
T |
C |
2: 38,903,730 (GRCm39) |
|
probably benign |
Het |
Atg2b |
C |
A |
12: 105,592,621 (GRCm39) |
D1745Y |
probably damaging |
Het |
Atp9a |
A |
G |
2: 168,494,552 (GRCm39) |
V651A |
probably damaging |
Het |
Ccnyl1 |
T |
C |
1: 64,747,631 (GRCm39) |
I148T |
possibly damaging |
Het |
Cfap95 |
T |
A |
19: 23,630,017 (GRCm39) |
D25V |
unknown |
Het |
Chrna6 |
A |
T |
8: 27,903,682 (GRCm39) |
W17R |
possibly damaging |
Het |
Cpne1 |
G |
A |
2: 155,919,917 (GRCm39) |
H244Y |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,650,807 (GRCm39) |
Y618H |
possibly damaging |
Het |
Csf1r |
T |
C |
18: 61,243,473 (GRCm39) |
I163T |
probably benign |
Het |
Ctdsp1 |
T |
C |
1: 74,434,606 (GRCm39) |
|
probably benign |
Het |
Ctsb |
T |
A |
14: 63,370,806 (GRCm39) |
I6N |
probably benign |
Het |
Dcbld1 |
A |
G |
10: 52,160,244 (GRCm39) |
N44S |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 117,976,112 (GRCm39) |
C2769Y |
probably benign |
Het |
Efemp2 |
C |
A |
19: 5,530,093 (GRCm39) |
Q187K |
probably damaging |
Het |
Elavl3 |
A |
T |
9: 21,947,612 (GRCm39) |
I109N |
probably damaging |
Het |
Elovl5 |
G |
T |
9: 77,890,066 (GRCm39) |
K292N |
probably benign |
Het |
Epb41 |
G |
T |
4: 131,731,105 (GRCm39) |
P1T |
probably damaging |
Het |
Gm44865 |
G |
T |
7: 108,165,007 (GRCm39) |
|
probably benign |
Het |
Gnat2 |
C |
A |
3: 108,007,368 (GRCm39) |
T262K |
probably damaging |
Het |
Katnip |
T |
C |
7: 125,451,174 (GRCm39) |
C1102R |
probably benign |
Het |
Kmt2e |
A |
T |
5: 23,702,540 (GRCm39) |
I951F |
probably damaging |
Het |
Large2 |
T |
C |
2: 92,197,927 (GRCm39) |
H258R |
probably damaging |
Het |
Lnx1 |
G |
A |
5: 74,846,420 (GRCm39) |
P10L |
probably benign |
Het |
Lrp6 |
G |
A |
6: 134,497,380 (GRCm39) |
S209L |
possibly damaging |
Het |
Mc3r |
A |
G |
2: 172,091,716 (GRCm39) |
I313V |
probably benign |
Het |
Med1 |
T |
C |
11: 98,051,859 (GRCm39) |
D468G |
possibly damaging |
Het |
Myo15a |
T |
C |
11: 60,400,357 (GRCm39) |
|
probably benign |
Het |
Nedd1 |
T |
C |
10: 92,525,503 (GRCm39) |
D602G |
possibly damaging |
Het |
Nol7 |
C |
T |
13: 43,554,769 (GRCm39) |
|
probably benign |
Het |
Or8c10 |
T |
C |
9: 38,279,364 (GRCm39) |
I174T |
possibly damaging |
Het |
Piezo2 |
T |
C |
18: 63,257,731 (GRCm39) |
D329G |
probably benign |
Het |
Pkia |
G |
T |
3: 7,507,142 (GRCm39) |
E75* |
probably null |
Het |
Pramel26 |
A |
C |
4: 143,538,330 (GRCm39) |
F214V |
possibly damaging |
Het |
Ptpn14 |
A |
T |
1: 189,571,754 (GRCm39) |
T282S |
probably damaging |
Het |
Ptprg |
C |
T |
14: 12,219,029 (GRCm38) |
P408S |
probably damaging |
Het |
Rpa2 |
A |
G |
4: 132,502,358 (GRCm39) |
I147V |
probably benign |
Het |
Serpina12 |
T |
C |
12: 103,997,397 (GRCm39) |
T375A |
possibly damaging |
Het |
Serpinb11 |
T |
A |
1: 107,307,546 (GRCm39) |
S326T |
probably damaging |
Het |
Slc18a1 |
T |
C |
8: 69,491,515 (GRCm39) |
T500A |
probably benign |
Het |
Tapt1 |
A |
G |
5: 44,350,529 (GRCm39) |
F247L |
possibly damaging |
Het |
Trav8d-2 |
A |
G |
14: 53,280,218 (GRCm39) |
I69M |
possibly damaging |
Het |
|
Other mutations in Mlxip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00519:Mlxip
|
APN |
5 |
123,585,268 (GRCm39) |
missense |
probably benign |
0.35 |
IGL00922:Mlxip
|
APN |
5 |
123,578,128 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01138:Mlxip
|
APN |
5 |
123,588,219 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01624:Mlxip
|
APN |
5 |
123,533,392 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02155:Mlxip
|
APN |
5 |
123,591,455 (GRCm39) |
missense |
probably benign |
|
IGL03177:Mlxip
|
APN |
5 |
123,584,044 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03242:Mlxip
|
APN |
5 |
123,578,124 (GRCm39) |
missense |
probably damaging |
1.00 |
confutatis
|
UTSW |
5 |
123,580,512 (GRCm39) |
splice site |
probably null |
|
BB008:Mlxip
|
UTSW |
5 |
123,588,558 (GRCm39) |
missense |
probably damaging |
1.00 |
BB018:Mlxip
|
UTSW |
5 |
123,588,558 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4366001:Mlxip
|
UTSW |
5 |
123,533,173 (GRCm39) |
missense |
probably benign |
0.00 |
R0136:Mlxip
|
UTSW |
5 |
123,580,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R1583:Mlxip
|
UTSW |
5 |
123,588,286 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2410:Mlxip
|
UTSW |
5 |
123,581,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Mlxip
|
UTSW |
5 |
123,590,730 (GRCm39) |
missense |
probably benign |
0.04 |
R2869:Mlxip
|
UTSW |
5 |
123,590,730 (GRCm39) |
missense |
probably benign |
0.04 |
R2870:Mlxip
|
UTSW |
5 |
123,590,730 (GRCm39) |
missense |
probably benign |
0.04 |
R2870:Mlxip
|
UTSW |
5 |
123,590,730 (GRCm39) |
missense |
probably benign |
0.04 |
R2871:Mlxip
|
UTSW |
5 |
123,590,730 (GRCm39) |
missense |
probably benign |
0.04 |
R2871:Mlxip
|
UTSW |
5 |
123,590,730 (GRCm39) |
missense |
probably benign |
0.04 |
R2873:Mlxip
|
UTSW |
5 |
123,590,730 (GRCm39) |
missense |
probably benign |
0.04 |
R2962:Mlxip
|
UTSW |
5 |
123,578,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R3709:Mlxip
|
UTSW |
5 |
123,585,537 (GRCm39) |
missense |
probably benign |
0.00 |
R4512:Mlxip
|
UTSW |
5 |
123,533,128 (GRCm39) |
missense |
probably benign |
|
R4536:Mlxip
|
UTSW |
5 |
123,588,566 (GRCm39) |
missense |
probably damaging |
0.97 |
R4722:Mlxip
|
UTSW |
5 |
123,585,265 (GRCm39) |
missense |
probably benign |
0.39 |
R4993:Mlxip
|
UTSW |
5 |
123,533,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R5503:Mlxip
|
UTSW |
5 |
123,533,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R5715:Mlxip
|
UTSW |
5 |
123,578,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R6006:Mlxip
|
UTSW |
5 |
123,583,721 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6330:Mlxip
|
UTSW |
5 |
123,533,015 (GRCm39) |
missense |
probably benign |
|
R6617:Mlxip
|
UTSW |
5 |
123,580,512 (GRCm39) |
splice site |
probably null |
|
R6709:Mlxip
|
UTSW |
5 |
123,585,339 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6970:Mlxip
|
UTSW |
5 |
123,583,735 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7718:Mlxip
|
UTSW |
5 |
123,583,577 (GRCm39) |
missense |
probably benign |
0.00 |
R7931:Mlxip
|
UTSW |
5 |
123,588,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R8222:Mlxip
|
UTSW |
5 |
123,585,596 (GRCm39) |
missense |
probably benign |
0.01 |
R9188:Mlxip
|
UTSW |
5 |
123,583,642 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2016-08-02 |