Mutagenetix > Incidental Mutation

Incidental Mutation 'R7931:Mlxip'

643587

Institutional Source

Beutler Lab

Gene Symbol

Mlxip

Ensembl Gene

ENSMUSG00000038342

Gene Name

MLX interacting protein

Synonyms

Mir, bHLHe36, Mondoa

MMRRC Submission

045978-MU

Accession Numbers

Essential gene?

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

Stock #

R7931 (G1)

Quality Score

999

Status

Validated

Chromosome

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: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (53/53)

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: 55 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
Col7a1	C	A	9: 108,809,590 (GRCm39)		probably benign	Het
Coq10b	A	G	1: 55,092,152 (GRCm39)		probably benign	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
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,201,351 (GRCm39)		probably benign	Het
Hoxa13	G	GCA	6: 52,237,620 (GRCm39)		probably null	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
Nvl	C	T	1: 180,936,720 (GRCm39)		probably benign	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
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
Tbc1d5	T	C	17: 51,106,892 (GRCm39)		probably benign	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
Usp5	T	C	6: 124,801,409 (GRCm39)		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
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
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
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

2020-08-07