Incidental Mutation 'BB018:Mlxip'
ID |
643004 |
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 # |
BB018
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
123532861-123595995 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123588558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 816
(D816G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064943
(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: D816G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000064943 Gene: ENSMUSG00000038342 AA Change: D816G
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
|
SMART Domains |
Protein: ENSMUSP00000107223 Gene: ENSMUSG00000038342
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 |
|
Meta Mutation Damage Score |
0.3038 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp2 |
A |
T |
2: 91,037,060 (GRCm39) |
|
probably null |
Het |
Aire |
G |
A |
10: 77,866,130 (GRCm39) |
A536V |
probably damaging |
Het |
Aox4 |
A |
G |
1: 58,294,645 (GRCm39) |
I951M |
probably benign |
Het |
Ash1l |
G |
T |
3: 88,950,848 (GRCm39) |
C2190F |
probably damaging |
Het |
C1s1 |
C |
T |
6: 124,510,359 (GRCm39) |
V363M |
probably damaging |
Het |
Diaph3 |
A |
T |
14: 87,352,456 (GRCm39) |
D48E |
possibly damaging |
Het |
Dnajc13 |
A |
G |
9: 104,095,763 (GRCm39) |
V559A |
probably benign |
Het |
Dzank1 |
T |
C |
2: 144,323,614 (GRCm39) |
I610V |
probably benign |
Het |
F7 |
A |
G |
8: 13,085,209 (GRCm39) |
I412V |
probably benign |
Het |
Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
Igkv4-70 |
C |
A |
6: 69,244,975 (GRCm39) |
R82L |
probably damaging |
Het |
Lnp1 |
T |
A |
16: 56,748,281 (GRCm39) |
R4* |
probably null |
Het |
Lrrc3b |
T |
C |
14: 15,358,018 (GRCm38) |
N196S |
probably benign |
Het |
Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
Myom3 |
A |
T |
4: 135,516,947 (GRCm39) |
H839L |
probably benign |
Het |
Nebl |
C |
T |
2: 17,381,433 (GRCm39) |
|
probably null |
Het |
Ninj1 |
T |
C |
13: 49,347,432 (GRCm39) |
I99T |
probably damaging |
Het |
Or11g1 |
A |
C |
14: 50,651,786 (GRCm39) |
M262L |
probably damaging |
Het |
Or2l5 |
A |
G |
16: 19,334,258 (GRCm39) |
S43P |
possibly damaging |
Het |
Or4a76 |
T |
A |
2: 89,460,448 (GRCm39) |
I265F |
possibly damaging |
Het |
Or8g55 |
A |
T |
9: 39,785,146 (GRCm39) |
T192S |
possibly damaging |
Het |
Otop1 |
A |
G |
5: 38,445,364 (GRCm39) |
H174R |
probably damaging |
Het |
Pcdhb16 |
A |
G |
18: 37,611,510 (GRCm39) |
N157D |
possibly damaging |
Het |
Prss44 |
A |
C |
9: 110,643,746 (GRCm39) |
Q130P |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,607,925 (GRCm39) |
M712L |
probably damaging |
Het |
Ptprh |
C |
A |
7: 4,574,987 (GRCm39) |
S344I |
probably benign |
Het |
Rps6kl1 |
T |
C |
12: 85,196,566 (GRCm39) |
I33V |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Scn1a |
T |
C |
2: 66,148,156 (GRCm39) |
S110G |
probably damaging |
Het |
Sdk2 |
C |
A |
11: 113,784,267 (GRCm39) |
K157N |
possibly damaging |
Het |
Serpina1d |
A |
T |
12: 103,733,815 (GRCm39) |
V163D |
probably damaging |
Het |
Serpina3g |
T |
C |
12: 104,205,428 (GRCm39) |
S56P |
probably benign |
Het |
Slc4a4 |
T |
C |
5: 89,318,640 (GRCm39) |
L636P |
probably benign |
Het |
Slc6a1 |
T |
C |
6: 114,288,863 (GRCm39) |
F474S |
probably benign |
Het |
Slco6d1 |
A |
G |
1: 98,356,141 (GRCm39) |
D235G |
probably damaging |
Het |
Srgn |
A |
T |
10: 62,330,763 (GRCm39) |
M114K |
possibly damaging |
Het |
Syne3 |
A |
T |
12: 104,929,491 (GRCm39) |
V243E |
probably damaging |
Het |
Tcf19 |
A |
G |
17: 35,825,804 (GRCm39) |
F118L |
probably damaging |
Het |
Tln2 |
A |
T |
9: 67,165,742 (GRCm39) |
|
probably null |
Het |
Tnxb |
A |
G |
17: 34,907,672 (GRCm39) |
T1239A |
probably damaging |
Het |
Traip |
A |
G |
9: 107,848,241 (GRCm39) |
I453M |
probably benign |
Het |
Vmn1r157 |
C |
T |
7: 22,461,210 (GRCm39) |
A30V |
probably damaging |
Het |
Vmn1r233 |
G |
A |
17: 21,214,125 (GRCm39) |
A275V |
probably benign |
Het |
Vps13d |
G |
A |
4: 144,822,854 (GRCm39) |
R2976* |
probably null |
Het |
Wdr75 |
T |
C |
1: 45,858,795 (GRCm39) |
F655L |
probably benign |
Het |
Wwp1 |
A |
G |
4: 19,650,114 (GRCm39) |
|
probably null |
Het |
Zc3h4 |
T |
C |
7: 16,166,909 (GRCm39) |
L747P |
unknown |
Het |
Zfp268 |
G |
A |
4: 145,349,126 (GRCm39) |
D188N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCAGTTTGGTCTCTTGTC -3'
(R):5'- TCCTGCAGAGTTCTTGGATG -3'
Sequencing Primer
(F):5'- AGCAGTTTGGTCTCTTGTCTTCCTC -3'
(R):5'- CTTGGATGTGGTCTCCCCAG -3'
|
Posted On |
2020-08-01 |