Incidental Mutation 'IGL01624:Mlxip'
| ID |
92653 |
| 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 # |
IGL01624
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
123532861-123595995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123533392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 134
(T134A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064943
(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: T134A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342
AA Change: T134A
| 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: T134A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000107223
Gene: ENSMUSG00000038342
AA Change: T134A
| 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 |
noncoding transcript
Transcript: ENSMUST00000141216
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199793
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,341,205 (GRCm39) |
T18I |
probably damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,669 (GRCm39) |
T398A |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,542,163 (GRCm39) |
V853A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,791,066 (GRCm39) |
S2488P |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,432,814 (GRCm39) |
I578V |
probably benign |
Het |
| Atp2c2 |
A |
C |
8: 120,484,189 (GRCm39) |
R933S |
probably benign |
Het |
| Cyp26a1 |
A |
T |
19: 37,686,781 (GRCm39) |
I78F |
possibly damaging |
Het |
| Gck |
A |
G |
11: 5,853,106 (GRCm39) |
V338A |
possibly damaging |
Het |
| Ints6 |
A |
T |
14: 62,934,320 (GRCm39) |
M729K |
probably benign |
Het |
| Kank2 |
C |
A |
9: 21,691,676 (GRCm39) |
G500W |
probably damaging |
Het |
| Kansl1 |
G |
A |
11: 104,315,378 (GRCm39) |
T220I |
probably benign |
Het |
| Lgi4 |
T |
C |
7: 30,767,113 (GRCm39) |
L380P |
probably damaging |
Het |
| Lhx9 |
G |
T |
1: 138,760,521 (GRCm39) |
Y276* |
probably null |
Het |
| Lipm |
T |
A |
19: 34,098,545 (GRCm39) |
Y340N |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,964,153 (GRCm39) |
I1246F |
probably damaging |
Het |
| Or14j3 |
A |
T |
17: 37,900,816 (GRCm39) |
W143R |
probably benign |
Het |
| Or6c69c |
T |
A |
10: 129,910,519 (GRCm39) |
L80H |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,574 (GRCm39) |
V76A |
probably benign |
Het |
| Rbm44 |
T |
A |
1: 91,084,380 (GRCm39) |
N601K |
probably damaging |
Het |
| Rgs4 |
T |
A |
1: 169,572,047 (GRCm39) |
Y84F |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,269 (GRCm39) |
T131A |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Slitrk5 |
T |
A |
14: 111,918,526 (GRCm39) |
Y717N |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,076,203 (GRCm39) |
S770P |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,399 (GRCm39) |
W516R |
probably damaging |
Het |
| Sugt1 |
A |
G |
14: 79,834,230 (GRCm39) |
N77S |
probably benign |
Het |
| Sumf1 |
C |
T |
6: 108,130,162 (GRCm39) |
D186N |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,712,790 (GRCm39) |
L709S |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,138,812 (GRCm39) |
I163K |
probably benign |
Het |
| Upf2 |
A |
T |
2: 6,038,990 (GRCm39) |
E287D |
probably benign |
Het |
| Usp17lb |
A |
G |
7: 104,491,720 (GRCm39) |
|
probably benign |
Het |
| Vmn2r10 |
G |
A |
5: 109,154,112 (GRCm39) |
S64F |
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 |
|
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 |
2013-12-09 |
Incidental Mutation