Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Mlxip'

177244

Institutional Source

Beutler Lab

Gene Symbol

Mlxip

Ensembl Gene

ENSMUSG00000038342

Gene Name

MLX interacting protein

Synonyms

Mondoa, bHLHe36, Mir

MMRRC Submission

039620-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R1583 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

123394798-123457932 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123450223 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 238 (I238T)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068237] [ENSMUST00000111596]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068237
AA Change: I793T

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000064943
Gene: ENSMUSG00000038342
AA Change: I793T

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

possibly damaging
Transcript: ENSMUST00000135961
AA Change: I238T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120510
Gene: ENSMUSG00000038342
AA Change: I238T

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

0.0747

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,882,681 (GRCm38)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,226,831 (GRCm38)		probably null	Het
Ankar	A	G	1: 72,679,555 (GRCm38)		probably benign	Het
Aplf	A	T	6: 87,646,033 (GRCm38)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,389,389 (GRCm38)		probably benign	Het
Catsperb	T	C	12: 101,463,114 (GRCm38)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 115,013,777 (GRCm38)	D88G	probably benign	Het
Cebpz	T	C	17: 78,934,752 (GRCm38)	N491S	probably damaging	Het
Crybg2	T	C	4: 134,081,459 (GRCm38)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,829,131 (GRCm38)	V331A	probably benign	Het
Decr2	T	C	17: 26,083,024 (GRCm38)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,823,117 (GRCm38)	M136T	probably damaging	Het
Eapp	G	A	12: 54,685,948 (GRCm38)	Q126*	probably null	Het
Fam111a	T	A	19: 12,587,778 (GRCm38)	V297D	probably damaging	Het
Fam84a	G	A	12: 14,150,408 (GRCm38)	A106V	probably benign	Het
Fbxo10	A	C	4: 45,062,118 (GRCm38)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,291,374 (GRCm38)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,591,810 (GRCm38)		probably null	Het
Gm10392	T	A	11: 77,517,481 (GRCm38)	D104V	probably benign	Het
Gm960	T	A	19: 4,652,171 (GRCm38)	K282N	probably damaging	Het
Gpn1	A	G	5: 31,497,338 (GRCm38)	E78G	possibly damaging	Het
Hhip	T	C	8: 79,990,276 (GRCm38)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,356,750 (GRCm38)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,703,765 (GRCm38)		probably benign	Het
Klhl21	T	C	4: 152,009,624 (GRCm38)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,243,478 (GRCm38)		probably null	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Magi2	T	C	5: 19,227,332 (GRCm38)	V15A	probably benign	Het
Map2k7	T	C	8: 4,243,621 (GRCm38)		probably null	Het
Mga	T	A	2: 119,963,960 (GRCm38)	H2590Q	possibly damaging	Het
Mylk	T	A	16: 34,875,586 (GRCm38)	D230E	probably benign	Het
Nacad	T	A	11: 6,601,185 (GRCm38)	T669S	probably benign	Het
Nin	C	T	12: 70,031,738 (GRCm38)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,382,237 (GRCm38)	A203T	probably damaging	Het
Olfr1204	T	G	2: 88,852,262 (GRCm38)	F104C	probably damaging	Het
Olfr1301	A	T	2: 111,754,425 (GRCm38)	M59L	probably damaging	Het
Olfr1495	A	T	19: 13,768,510 (GRCm38)	H56L	probably benign	Het
Olfr201	A	G	16: 59,269,031 (GRCm38)	V212A	probably benign	Het
Olfr433	T	C	1: 174,042,480 (GRCm38)	F177L	probably benign	Het
Olfr729	C	A	14: 50,148,774 (GRCm38)	M33I	probably benign	Het
Osbp	C	A	19: 11,977,829 (GRCm38)	Q282K	probably benign	Het
Osbpl2	A	G	2: 180,148,463 (GRCm38)	S177G	probably damaging	Het
Pax1	A	G	2: 147,366,255 (GRCm38)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,886,727 (GRCm38)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,117,825 (GRCm38)	S3420P	probably benign	Het
Prss3	A	C	6: 41,377,627 (GRCm38)		probably benign	Het
Ptk2b	T	C	14: 66,163,114 (GRCm38)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,673,239 (GRCm38)	V126A	probably damaging	Het
Rai14	A	C	15: 10,587,916 (GRCm38)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,954,524 (GRCm38)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,483,327 (GRCm38)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,527,667 (GRCm38)		noncoding transcript	Het
Scrn1	A	T	6: 54,520,769 (GRCm38)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 125,421,895 (GRCm38)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,600,962 (GRCm38)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,213,617 (GRCm38)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,980,426 (GRCm38)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,700,230 (GRCm38)	R260*	probably null	Het
Tenm3	T	C	8: 48,279,074 (GRCm38)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,987,530 (GRCm38)	G116A	probably damaging	Het
Tial1	A	G	7: 128,443,910 (GRCm38)	Y317H	probably damaging	Het
Trim66	A	T	7: 109,455,080 (GRCm38)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,783,545 (GRCm38)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,618,291 (GRCm38)	S31T	possibly damaging	Het

Other mutations in Mlxip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Mlxip	APN	5	123,447,205 (GRCm38)	missense	probably benign	0.35
IGL00922:Mlxip	APN	5	123,440,065 (GRCm38)	missense	probably damaging	1.00
IGL01138:Mlxip	APN	5	123,450,156 (GRCm38)	missense	probably damaging	1.00
IGL01624:Mlxip	APN	5	123,395,329 (GRCm38)	missense	probably benign	0.08
IGL02155:Mlxip	APN	5	123,453,392 (GRCm38)	missense	probably benign
IGL03011:Mlxip	APN	5	123,445,951 (GRCm38)	missense	probably benign	0.01
IGL03177:Mlxip	APN	5	123,445,981 (GRCm38)	missense	possibly damaging	0.86
IGL03242:Mlxip	APN	5	123,440,061 (GRCm38)	missense	probably damaging	1.00
confutatis	UTSW	5	123,442,449 (GRCm38)	splice site	probably null
BB008:Mlxip	UTSW	5	123,450,495 (GRCm38)	missense	probably damaging	1.00
BB018:Mlxip	UTSW	5	123,450,495 (GRCm38)	missense	probably damaging	1.00
PIT4366001:Mlxip	UTSW	5	123,395,110 (GRCm38)	missense	probably benign	0.00
R0136:Mlxip	UTSW	5	123,442,306 (GRCm38)	missense	probably damaging	1.00
R2410:Mlxip	UTSW	5	123,443,069 (GRCm38)	missense	probably damaging	1.00
R2869:Mlxip	UTSW	5	123,452,667 (GRCm38)	missense	probably benign	0.04
R2869:Mlxip	UTSW	5	123,452,667 (GRCm38)	missense	probably benign	0.04
R2870:Mlxip	UTSW	5	123,452,667 (GRCm38)	missense	probably benign	0.04
R2870:Mlxip	UTSW	5	123,452,667 (GRCm38)	missense	probably benign	0.04
R2871:Mlxip	UTSW	5	123,452,667 (GRCm38)	missense	probably benign	0.04
R2871:Mlxip	UTSW	5	123,452,667 (GRCm38)	missense	probably benign	0.04
R2873:Mlxip	UTSW	5	123,452,667 (GRCm38)	missense	probably benign	0.04
R2962:Mlxip	UTSW	5	123,440,824 (GRCm38)	missense	probably damaging	0.99
R3709:Mlxip	UTSW	5	123,447,474 (GRCm38)	missense	probably benign	0.00
R4512:Mlxip	UTSW	5	123,395,065 (GRCm38)	missense	probably benign
R4536:Mlxip	UTSW	5	123,450,503 (GRCm38)	missense	probably damaging	0.97
R4722:Mlxip	UTSW	5	123,447,202 (GRCm38)	missense	probably benign	0.39
R4993:Mlxip	UTSW	5	123,395,294 (GRCm38)	missense	probably damaging	1.00
R5503:Mlxip	UTSW	5	123,395,327 (GRCm38)	missense	probably damaging	0.98
R5715:Mlxip	UTSW	5	123,440,058 (GRCm38)	missense	probably damaging	1.00
R6006:Mlxip	UTSW	5	123,445,658 (GRCm38)	missense	possibly damaging	0.93
R6330:Mlxip	UTSW	5	123,394,952 (GRCm38)	missense	probably benign
R6617:Mlxip	UTSW	5	123,442,449 (GRCm38)	splice site	probably null
R6709:Mlxip	UTSW	5	123,447,276 (GRCm38)	missense	possibly damaging	0.89
R6970:Mlxip	UTSW	5	123,445,672 (GRCm38)	missense	possibly damaging	0.52
R7718:Mlxip	UTSW	5	123,445,514 (GRCm38)	missense	probably benign	0.00
R7931:Mlxip	UTSW	5	123,450,495 (GRCm38)	missense	probably damaging	1.00
R8222:Mlxip	UTSW	5	123,447,533 (GRCm38)	missense	probably benign	0.01
R9188:Mlxip	UTSW	5	123,445,579 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGTGTAAAGCCTGGCCTGTGACTC -3'
(R):5'- ACATGTCTCTCATGTGGTCAAGCTG -3'

Sequencing Primer
(F):5'- TCAGGATGGGCTTTAACACC -3'
(R):5'- ACTCCTGTGGCAGGTAGC -3'

Posted On

2014-04-24