Mutagenetix > Incidental Mutation

Incidental Mutation 'R2873:Mlxip'

260399

Institutional Source

Beutler Lab

Gene Symbol

Mlxip

Ensembl Gene

ENSMUSG00000038342

Gene Name

MLX interacting protein

Synonyms

Mir, bHLHe36, Mondoa

MMRRC Submission

040461-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R2873 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123532861-123595995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123590730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 878 (M878V)

Ref Sequence

ENSEMBL: ENSMUSP00000064943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068237]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000068237
AA Change: M878V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342
AA Change: M878V

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199458

Meta Mutation Damage Score

0.1325

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (81/81)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Acvr1	G	A	2: 58,367,808 (GRCm39)	Q118*	probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd40	T	C	11: 94,224,771 (GRCm39)	V60A	possibly damaging	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp13a2	T	C	4: 140,730,294 (GRCm39)	I773T	probably benign	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Ccdc162	G	T	10: 41,531,095 (GRCm39)	T537N	possibly damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd101	A	T	3: 100,911,164 (GRCm39)	D831E	probably benign	Het
Ch25h	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Chek2	C	A	5: 111,011,202 (GRCm39)	Y333*	probably null	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Flnc	A	G	6: 29,447,542 (GRCm39)	D1115G	probably damaging	Het
Ftdc1	A	T	16: 58,434,342 (GRCm39)	I125K	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm5519	A	C	19: 33,802,410 (GRCm39)	D151A	possibly damaging	Het
Grid2ip	C	A	5: 143,343,684 (GRCm39)	Q127K	probably benign	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kpna7	T	C	5: 144,930,745 (GRCm39)	T367A	probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Nlrp4b	C	T	7: 10,444,170 (GRCm39)	Q40*	probably null	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notch1	A	G	2: 26,350,247 (GRCm39)	C2298R	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Pms2	G	A	5: 143,848,732 (GRCm39)		probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Ptger4	T	C	15: 5,264,286 (GRCm39)	R457G	probably benign	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Ralgds	A	G	2: 28,438,781 (GRCm39)		probably null	Het
Rnf6	T	C	5: 146,147,215 (GRCm39)	Y601C	probably benign	Het
Sgk2	A	G	2: 162,836,449 (GRCm39)		probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc4a4	G	T	5: 89,283,623 (GRCm39)	V481L	probably damaging	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Slit3	G	T	11: 35,435,620 (GRCm39)	E184*	probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tet2	C	T	3: 133,192,715 (GRCm39)	G573E	probably damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Usp9y	T	A	Y: 1,310,502 (GRCm39)		probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	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
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
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'- TCAGCAGTCAACCTGGCTTG -3'
(R):5'- CTGCTGAAAGCTTTCTGGATTCTAG -3'

Sequencing Primer
(F):5'- AGTCAACCTGGCTTGCCTGAG -3'
(R):5'- GAAAGCTTTCTGGATTCTAGGATCCC -3'

Posted On

2015-01-23