Incidental Mutation 'R2410:Mlxip'
| ID |
249945 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2410 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
123532861-123595995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123581132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 260
(W260R)
|
| 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: W260R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342
AA Change: W260R
| 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: W260R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107223
Gene: ENSMUSG00000038342
AA Change: W260R
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Adgrf5 |
C |
A |
17: 43,766,157 (GRCm39) |
N1326K |
probably benign |
Het |
| Ciita |
A |
G |
16: 10,328,568 (GRCm39) |
E284G |
probably damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,083 (GRCm39) |
Y284C |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,991,262 (GRCm39) |
D2368G |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,650,716 (GRCm39) |
V807I |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,439,240 (GRCm39) |
D491G |
probably damaging |
Het |
| Ero1a |
C |
T |
14: 45,542,723 (GRCm39) |
V101I |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,895,111 (GRCm39) |
Y9H |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,496,453 (GRCm39) |
Y299C |
possibly damaging |
Het |
| Lamc1 |
G |
A |
1: 153,123,141 (GRCm39) |
T683M |
possibly damaging |
Het |
| Lrrc39 |
C |
T |
3: 116,374,899 (GRCm39) |
P327S |
probably benign |
Het |
| Marf1 |
A |
T |
16: 13,933,691 (GRCm39) |
F1566I |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,924,183 (GRCm39) |
M343K |
probably damaging |
Het |
| Mrps17 |
T |
C |
5: 129,795,047 (GRCm39) |
V64A |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,974,899 (GRCm39) |
I156N |
possibly damaging |
Het |
| Phldb3 |
C |
T |
7: 24,323,719 (GRCm39) |
S450L |
probably benign |
Het |
| Pi4k2a |
A |
G |
19: 42,093,316 (GRCm39) |
E219G |
possibly damaging |
Het |
| Polr1a |
T |
C |
6: 71,951,866 (GRCm39) |
S1478P |
probably benign |
Het |
| Rab14 |
T |
C |
2: 35,076,762 (GRCm39) |
|
probably null |
Het |
| Rnf43 |
T |
C |
11: 87,623,085 (GRCm39) |
Y729H |
possibly damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Sorbs1 |
T |
A |
19: 40,361,959 (GRCm39) |
I142F |
probably damaging |
Het |
| Tmem255b |
A |
G |
8: 13,491,278 (GRCm39) |
I66V |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,123 (GRCm39) |
D175G |
probably damaging |
Het |
| Zfp954 |
A |
T |
7: 7,120,808 (GRCm39) |
I74N |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTTAAGGGAACAGCTCTC -3'
(R):5'- AAGTGCCACACAGCAGCTTAG -3'
Sequencing Primer
(F):5'- GTTAAGGGAACAGCTCTCAACGC -3'
(R):5'- CAGCTTAGAGGTGCCCTGAAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation