Incidental Mutation 'R6330:Mlxip'
ID |
510852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mlxip
|
Ensembl Gene |
ENSMUSG00000038342 |
Gene Name |
MLX interacting protein |
Synonyms |
Mir, bHLHe36, Mondoa |
MMRRC Submission |
044484-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.309)
|
Stock # |
R6330 (G1)
|
Quality Score |
199.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
123532861-123595995 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 123533015 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 8
(C8Y)
|
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: C8Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000064943 Gene: ENSMUSG00000038342 AA Change: C8Y
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: C8Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107223 Gene: ENSMUSG00000038342 AA Change: C8Y
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
|
Meta Mutation Damage Score |
0.0620 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (46/47) |
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 |
2310079G19Rik |
T |
A |
16: 88,423,939 (GRCm39) |
H184L |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,600,312 (GRCm39) |
Y540H |
probably damaging |
Het |
Celf2 |
A |
G |
2: 6,889,766 (GRCm39) |
F2L |
probably benign |
Het |
Cfap57 |
T |
C |
4: 118,426,593 (GRCm39) |
I1119V |
probably benign |
Het |
Clec4f |
T |
C |
6: 83,629,850 (GRCm39) |
Q236R |
probably damaging |
Het |
Cstdc2 |
G |
T |
2: 148,692,745 (GRCm39) |
A19D |
probably damaging |
Het |
Cyp4a31 |
C |
T |
4: 115,421,074 (GRCm39) |
P54L |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,909,140 (GRCm39) |
V1251A |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,379,335 (GRCm39) |
V3690M |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,842,655 (GRCm39) |
M1K |
probably null |
Het |
Emb |
T |
G |
13: 117,385,666 (GRCm39) |
|
probably null |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
F7 |
C |
T |
8: 13,085,140 (GRCm39) |
H389Y |
probably damaging |
Het |
Fam111a |
T |
A |
19: 12,564,266 (GRCm39) |
I49K |
probably damaging |
Het |
Fam50b |
T |
G |
13: 34,930,652 (GRCm39) |
S43A |
probably benign |
Het |
Gbp7 |
A |
T |
3: 142,252,259 (GRCm39) |
Y614F |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,899,317 (GRCm39) |
D901E |
probably damaging |
Het |
Hhatl |
C |
T |
9: 121,617,291 (GRCm39) |
|
probably null |
Het |
Idua |
T |
A |
5: 108,829,574 (GRCm39) |
L432H |
probably benign |
Het |
Ighv10-3 |
T |
A |
12: 114,487,086 (GRCm39) |
T112S |
possibly damaging |
Het |
Kcnj6 |
T |
A |
16: 94,563,460 (GRCm39) |
D346V |
possibly damaging |
Het |
Lrba |
A |
G |
3: 86,255,664 (GRCm39) |
D1002G |
probably benign |
Het |
Lrrd1 |
T |
A |
5: 3,900,629 (GRCm39) |
S311R |
probably damaging |
Het |
Mafk |
A |
G |
5: 139,784,948 (GRCm39) |
N4S |
probably benign |
Het |
Mfsd14b |
T |
C |
13: 65,243,500 (GRCm39) |
Y48C |
probably damaging |
Het |
Mindy3 |
C |
T |
2: 12,361,744 (GRCm39) |
A333T |
probably damaging |
Het |
Mthfd1l |
A |
T |
10: 3,930,234 (GRCm39) |
M110L |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
Or14j7 |
T |
C |
17: 38,234,685 (GRCm39) |
V76A |
possibly damaging |
Het |
Or1af1 |
A |
T |
2: 37,110,136 (GRCm39) |
I212F |
probably benign |
Het |
Orc2 |
C |
A |
1: 58,539,493 (GRCm39) |
V49L |
probably benign |
Het |
Pfkp |
C |
T |
13: 6,635,286 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,373,541 (GRCm39) |
F1359S |
probably benign |
Het |
Ralgps1 |
A |
T |
2: 33,064,455 (GRCm39) |
I222N |
probably damaging |
Het |
Rrad |
T |
G |
8: 105,356,492 (GRCm39) |
E136A |
probably benign |
Het |
Serpine3 |
T |
C |
14: 62,902,430 (GRCm39) |
S14P |
probably benign |
Het |
Slc2a12 |
A |
G |
10: 22,540,894 (GRCm39) |
T250A |
probably benign |
Het |
Slc4a5 |
T |
G |
6: 83,203,356 (GRCm39) |
F85L |
probably benign |
Het |
Stx18 |
T |
A |
5: 38,284,261 (GRCm39) |
|
probably null |
Het |
Tbcd |
T |
C |
11: 121,387,912 (GRCm39) |
S348P |
probably benign |
Het |
Usp9y |
T |
C |
Y: 1,340,123 (GRCm39) |
T1419A |
probably benign |
Homo |
Vmn2r69 |
T |
C |
7: 85,060,835 (GRCm39) |
S250G |
probably benign |
Het |
Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
Vwa5b2 |
T |
A |
16: 20,420,727 (GRCm39) |
I846N |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,637,412 (GRCm39) |
Y33N |
probably damaging |
Het |
Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
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 |
|
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 |
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'- ACGACAGTGACGTTACGAGG -3'
(R):5'- TGTCGAAATCATAGCCCTTCTTG -3'
Sequencing Primer
(F):5'- TGACGTTACGAGGAGGCC -3'
(R):5'- ATGATCTGCTGTCGGCGC -3'
|
Posted On |
2018-04-02 |