Mutagenetix > Incidental Mutations

Incidental Mutation 'R6970:Mlxip'

542176

Institutional Source

Beutler Lab

Gene Symbol

Mlxip

Ensembl Gene

ENSMUSG00000038342

Gene Name

MLX interacting protein

Synonyms

Mondoa, bHLHe36, Mir

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123394798-123457932 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123445672 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 433 (T433A)

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: T433A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342
AA Change: T433A

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

possibly damaging
Transcript: ENSMUST00000111596
AA Change: T433A

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107223
Gene: ENSMUSG00000038342
AA Change: T433A

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,112,314		probably null	Het
2410089E03Rik	T	C	15: 8,187,548	V750A	probably benign	Het
Acadsb	T	C	7: 131,434,315	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,345,668	S285P	probably benign	Het
Adcy10	A	G	1: 165,556,916	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600		probably benign	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137	F188L	probably benign	Het
Dclk1	A	T	3: 55,466,601		probably benign	Het
Ddx20	A	T	3: 105,680,358	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422	E149G	probably damaging	Het
Fat4	A	G	3: 38,981,775	N3192S	probably damaging	Het
Fat4	A	T	3: 38,995,971	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,284,620		probably null	Het
Gm11639	A	G	11: 104,776,356	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Gm906	A	T	13: 50,246,971	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mus81	G	T	19: 5,485,526	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263	T54M	probably damaging	Het
Nalcn	A	G	14: 123,314,094	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,667,013	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656	S108G	probably benign	Het
Olfr980	T	A	9: 40,006,713	M79L	probably benign	Het
Pcdh15	C	T	10: 74,502,687	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264	Q168R	probably benign	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plekhm3	T	G	1: 64,892,753	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906		probably benign	Het
Qser1	A	G	2: 104,788,130	V779A	probably benign	Het
Rbm39	G	A	2: 156,167,584	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227		probably benign	Het
Rsl1d1	T	A	16: 11,193,694	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tepsin	G	A	11: 120,095,364	T168M	probably damaging	Het
Tex15	A	T	8: 33,557,428	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423		probably benign	Het
Tubgcp3	G	T	8: 12,637,000	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341	K681*	probably null	Het
Xrcc6	A	G	15: 82,031,174	K98E	probably benign	Het
Zfp423	A	G	8: 87,803,779	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,875,750	E14K	probably damaging	Het

Other mutations in Mlxip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Mlxip	APN	5	123447205	missense	probably benign	0.35
IGL00922:Mlxip	APN	5	123440065	missense	probably damaging	1.00
IGL01138:Mlxip	APN	5	123450156	missense	probably damaging	1.00
IGL01624:Mlxip	APN	5	123395329	missense	probably benign	0.08
IGL02155:Mlxip	APN	5	123453392	missense	probably benign
IGL03011:Mlxip	APN	5	123445951	missense	probably benign	0.01
IGL03177:Mlxip	APN	5	123445981	missense	possibly damaging	0.86
IGL03242:Mlxip	APN	5	123440061	missense	probably damaging	1.00
confutatis	UTSW	5	123442449	splice site	probably null
BB008:Mlxip	UTSW	5	123450495	missense	probably damaging	1.00
BB018:Mlxip	UTSW	5	123450495	missense	probably damaging	1.00
PIT4366001:Mlxip	UTSW	5	123395110	missense	probably benign	0.00
R0136:Mlxip	UTSW	5	123442306	missense	probably damaging	1.00
R1583:Mlxip	UTSW	5	123450223	missense	possibly damaging	0.86
R2410:Mlxip	UTSW	5	123443069	missense	probably damaging	1.00
R2869:Mlxip	UTSW	5	123452667	missense	probably benign	0.04
R2869:Mlxip	UTSW	5	123452667	missense	probably benign	0.04
R2870:Mlxip	UTSW	5	123452667	missense	probably benign	0.04
R2870:Mlxip	UTSW	5	123452667	missense	probably benign	0.04
R2871:Mlxip	UTSW	5	123452667	missense	probably benign	0.04
R2871:Mlxip	UTSW	5	123452667	missense	probably benign	0.04
R2873:Mlxip	UTSW	5	123452667	missense	probably benign	0.04
R2962:Mlxip	UTSW	5	123440824	missense	probably damaging	0.99
R3709:Mlxip	UTSW	5	123447474	missense	probably benign	0.00
R4512:Mlxip	UTSW	5	123395065	missense	probably benign
R4536:Mlxip	UTSW	5	123450503	missense	probably damaging	0.97
R4722:Mlxip	UTSW	5	123447202	missense	probably benign	0.39
R4993:Mlxip	UTSW	5	123395294	missense	probably damaging	1.00
R5503:Mlxip	UTSW	5	123395327	missense	probably damaging	0.98
R5715:Mlxip	UTSW	5	123440058	missense	probably damaging	1.00
R6006:Mlxip	UTSW	5	123445658	missense	possibly damaging	0.93
R6330:Mlxip	UTSW	5	123394952	missense	probably benign
R6617:Mlxip	UTSW	5	123442449	splice site	probably null
R6709:Mlxip	UTSW	5	123447276	missense	possibly damaging	0.89
R7718:Mlxip	UTSW	5	123445514	missense	probably benign	0.00
R7931:Mlxip	UTSW	5	123450495	missense	probably damaging	1.00
R8222:Mlxip	UTSW	5	123447533	missense	probably benign	0.01
R9188:Mlxip	UTSW	5	123445579	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTTAGGGGAACATCTTGCCAAATAC -3'
(R):5'- GCATCATGGGTAAGGGTTGC -3'

Sequencing Primer
(F):5'- GGGAACATCTTGCCAAATACAGCTC -3'
(R):5'- TGCAGAGGCTGTGTGGGTAATAAC -3'

Posted On

2018-11-28