Incidental Mutation 'IGL00922:Mlxip'
| ID |
27423 |
| 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 # |
IGL00922
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
123532861-123595995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123578128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 148
(N148I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068237]
[ENSMUST00000111596]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068237
AA Change: N148I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342
AA Change: N148I
| 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 damaging
Transcript: ENSMUST00000111596
AA Change: N148I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107223
Gene: ENSMUSG00000038342
AA Change: N148I
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
T |
C |
5: 115,085,236 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,789,398 (GRCm39) |
M1518K |
probably damaging |
Het |
| Baiap2l1 |
C |
T |
5: 144,255,777 (GRCm39) |
G59D |
probably damaging |
Het |
| BC051019 |
C |
A |
7: 109,319,883 (GRCm39) |
C60F |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,892,111 (GRCm39) |
Y135C |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,824,163 (GRCm39) |
S535T |
probably benign |
Het |
| Chkb |
C |
T |
15: 89,306,491 (GRCm39) |
|
probably null |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,866 (GRCm39) |
D605V |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,761,875 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,010,509 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,281,866 (GRCm39) |
V4E |
probably damaging |
Het |
| Dnajc22 |
T |
G |
15: 98,999,460 (GRCm39) |
L215R |
possibly damaging |
Het |
| Drc7 |
G |
A |
8: 95,804,606 (GRCm39) |
V874I |
probably benign |
Het |
| Foxa2 |
A |
C |
2: 147,886,738 (GRCm39) |
S26A |
possibly damaging |
Het |
| Gal |
A |
T |
19: 3,461,575 (GRCm39) |
V70E |
probably benign |
Het |
| Gjb4 |
T |
C |
4: 127,245,146 (GRCm39) |
Y265C |
probably benign |
Het |
| Hc |
A |
G |
2: 34,881,680 (GRCm39) |
S1423P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kash5 |
T |
C |
7: 44,834,730 (GRCm39) |
E532G |
possibly damaging |
Het |
| Map3k6 |
C |
T |
4: 132,970,355 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
T |
4: 130,680,285 (GRCm39) |
Q454L |
probably benign |
Het |
| Mre11a |
T |
C |
9: 14,710,884 (GRCm39) |
F193L |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,498,546 (GRCm39) |
Y881H |
probably damaging |
Het |
| Nphp4 |
C |
T |
4: 152,621,766 (GRCm39) |
|
probably benign |
Het |
| Or6c3b |
T |
G |
10: 129,527,323 (GRCm39) |
I196L |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,735,954 (GRCm39) |
V2151D |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,432,941 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
A |
C |
3: 159,320,179 (GRCm39) |
D277A |
probably damaging |
Het |
| Sec14l1 |
C |
T |
11: 117,044,055 (GRCm39) |
T521M |
possibly damaging |
Het |
| Slc25a30 |
A |
T |
14: 76,007,038 (GRCm39) |
Y153N |
probably damaging |
Het |
| Slc6a12 |
C |
T |
6: 121,337,414 (GRCm39) |
A366V |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,038,963 (GRCm39) |
T1367S |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,267,901 (GRCm39) |
S118R |
probably benign |
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 |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation