Incidental Mutation 'IGL03177:Mlxip'
| ID |
412021 |
| 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: 0.359)
|
| Stock # |
IGL03177
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
123532861-123595995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123584044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 536
(P536T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068237]
[ENSMUST00000111596]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068237
AA Change: P536T
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342
AA Change: P536T
| 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 |
possibly damaging
Transcript: ENSMUST00000111596
AA Change: P536T
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107223
Gene: ENSMUSG00000038342
AA Change: P536T
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
T |
C |
X: 159,221,259 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,654 (GRCm39) |
I451V |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,862,704 (GRCm39) |
F37L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,165,888 (GRCm39) |
I30T |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,840 (GRCm39) |
N392D |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,917,078 (GRCm39) |
H479R |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,545 (GRCm39) |
Y1426C |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,980,079 (GRCm39) |
|
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,267,045 (GRCm39) |
|
probably benign |
Het |
| Grik5 |
G |
A |
7: 24,714,879 (GRCm39) |
T705I |
probably damaging |
Het |
| H2ac4 |
T |
A |
13: 23,935,509 (GRCm39) |
|
probably benign |
Het |
| H2-M3 |
G |
T |
17: 37,581,207 (GRCm39) |
V19F |
possibly damaging |
Het |
| Hapln2 |
C |
A |
3: 87,930,078 (GRCm39) |
C266F |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,667,700 (GRCm39) |
|
probably null |
Het |
| Jak3 |
T |
A |
8: 72,135,014 (GRCm39) |
V549D |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,677,104 (GRCm39) |
S49P |
probably damaging |
Het |
| Mdfic |
T |
C |
6: 15,770,450 (GRCm39) |
V152A |
probably damaging |
Het |
| Mgat4a |
C |
A |
1: 37,483,968 (GRCm39) |
V501L |
probably damaging |
Het |
| Mrpl2 |
A |
T |
17: 46,959,963 (GRCm39) |
T213S |
probably damaging |
Het |
| Nos1ap |
C |
A |
1: 170,218,299 (GRCm39) |
|
probably null |
Het |
| Or4a74 |
C |
T |
2: 89,439,826 (GRCm39) |
V207I |
probably benign |
Het |
| Or6c1b |
T |
C |
10: 129,272,684 (GRCm39) |
M1T |
probably null |
Het |
| Or8b50 |
T |
A |
9: 38,517,867 (GRCm39) |
Y35* |
probably null |
Het |
| P2rx2 |
T |
C |
5: 110,489,479 (GRCm39) |
I251V |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,172,140 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
G |
A |
17: 15,166,493 (GRCm39) |
T459I |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,354 (GRCm39) |
|
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,367,612 (GRCm39) |
I639N |
probably benign |
Het |
| Rlf |
T |
A |
4: 121,005,276 (GRCm39) |
K1235* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,859,016 (GRCm39) |
I46F |
probably benign |
Het |
| Sall3 |
A |
G |
18: 81,016,183 (GRCm39) |
S582P |
probably benign |
Het |
| Scn3b |
A |
C |
9: 40,181,338 (GRCm39) |
Y17S |
probably benign |
Het |
| Senp8 |
A |
G |
9: 59,644,611 (GRCm39) |
C169R |
probably damaging |
Het |
| Sgsm1 |
C |
T |
5: 113,398,859 (GRCm39) |
A1025T |
probably damaging |
Het |
| Six1 |
T |
C |
12: 73,090,514 (GRCm39) |
E217G |
possibly damaging |
Het |
| Slc38a8 |
T |
C |
8: 120,212,251 (GRCm39) |
D364G |
probably damaging |
Het |
| Stk10 |
A |
T |
11: 32,564,592 (GRCm39) |
E801V |
probably damaging |
Het |
| Ston2 |
A |
T |
12: 91,614,431 (GRCm39) |
I659N |
probably damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,462,579 (GRCm39) |
Q331R |
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,914,864 (GRCm39) |
V54E |
probably damaging |
Het |
| Tax1bp1 |
A |
G |
6: 52,713,932 (GRCm39) |
D237G |
possibly damaging |
Het |
| Tmigd1 |
T |
C |
11: 76,797,774 (GRCm39) |
Y39H |
probably benign |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,458 (GRCm39) |
T109A |
probably benign |
Het |
| Vmn1r209 |
T |
C |
13: 22,990,024 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,146,347 (GRCm39) |
D12G |
probably 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 |
|
|
IGL03011:Mlxip
|
APN |
5 |
123,584,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
Incidental Mutation