Mutagenetix > Incidental Mutations

Incidental Mutation 'R4384:Mylip'

326127

Institutional Source

Beutler Lab

Gene Symbol

Mylip

Ensembl Gene

ENSMUSG00000038175

Gene Name

myosin regulatory light chain interacting protein

Synonyms

Mir, 9430057C20Rik, Idol

MMRRC Submission

042002-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4384 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

45389742-45412022 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 45389958 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000047403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038275] [ENSMUST00000222178]

Predicted Effect

probably null
Transcript: ENSMUST00000038275
AA Change: M1T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: M1T

Domain	Start	End	E-Value	Type
B41	1	190	2.85e-36	SMART
FERM_C	194	283	1.87e-16	SMART
low complexity region	342	368	N/A	INTRINSIC
RING	387	421	2.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000222178

Meta Mutation Damage Score

0.9289

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,568	V27E	possibly damaging	Het
Adam23	T	C	1: 63,566,628	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,930,157	C132*	probably null	Het
Boc	A	T	16: 44,491,182	L726H	probably damaging	Het
Brip1	A	T	11: 86,148,429	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,988	Q654L	probably benign	Het
Calr3	T	A	8: 72,428,164	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,748,460	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 66,019,908	V119A	probably damaging	Het
Ddias	G	A	7: 92,858,223	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,811,450	Y763C	probably damaging	Het
Dscam	T	A	16: 96,709,216	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,919,393		probably benign	Het
E2f8	G	A	7: 48,867,099	T844I	possibly damaging	Het
Eps8	T	A	6: 137,499,592	H603L	probably benign	Het
Esrrg	G	A	1: 188,043,711	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,594,563	R467*	probably null	Het
Gad2	G	A	2: 22,685,410	V509I	probably benign	Het
Gpat4	A	G	8: 23,174,586	I446T	probably benign	Het
Klhl12	T	G	1: 134,487,654	D435E	probably damaging	Het
Luc7l	T	C	17: 26,279,962		probably benign	Het
March2	C	A	17: 33,696,193	M142I	probably benign	Het
Marf1	T	A	16: 14,142,641	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,696,439	D114G	possibly damaging	Het
Med1	G	A	11: 98,152,862		probably benign	Het
Meikin	C	T	11: 54,417,787	Q404*	probably null	Het
Myh9	A	T	15: 77,791,712		probably benign	Het
Ncapg2	T	C	12: 116,439,877		probably null	Het
Nmd3	T	C	3: 69,724,398		probably benign	Het
Nwd2	T	A	5: 63,806,571	L1166H	probably damaging	Het
Olfr341	A	G	2: 36,479,998	L44P	probably damaging	Het
Olfr912	T	C	9: 38,582,053	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,856,902	I71T	probably damaging	Het
Rwdd3	T	C	3: 121,158,757		probably benign	Het
Ryr2	T	C	13: 11,605,233	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,298,257	Q273R	probably benign	Het
Sdha	A	T	13: 74,326,985	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,702,883	L771P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,247,727	E624G	possibly damaging	Het
Tada3	G	T	6: 113,370,379	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,247,933	M130V	probably damaging	Het
Trpc1	C	A	9: 95,732,108	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,640,507	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,917,725	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,428,682	S80P	probably benign	Het
Usp54	A	T	14: 20,550,085		probably null	Het
Vmn2r27	A	G	6: 124,224,156	Y281H	probably benign	Het
Vwf	T	A	6: 125,655,116	I37N	unknown	Het
Zfp329	G	A	7: 12,811,657		probably benign	Het
Zfp616	G	T	11: 74,083,179	L91F	possibly damaging	Het

Other mutations in Mylip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Mylip	APN	13	45408567	missense	probably benign	0.03
IGL01603:Mylip	APN	13	45390003	missense	probably benign	0.13
IGL01919:Mylip	APN	13	45408702	missense	probably damaging	1.00
IGL02341:Mylip	APN	13	45391276	missense	probably damaging	0.99
IGL02657:Mylip	APN	13	45391246	missense	probably benign
IGL03239:Mylip	APN	13	45406625	missense	possibly damaging	0.89
PIT4283001:Mylip	UTSW	13	45406634	missense	possibly damaging	0.46
R0482:Mylip	UTSW	13	45404583	missense	probably benign	0.11
R1217:Mylip	UTSW	13	45406702	missense	probably damaging	1.00
R1318:Mylip	UTSW	13	45405925	missense	probably benign
R1341:Mylip	UTSW	13	45405936	missense	probably damaging	0.98
R1531:Mylip	UTSW	13	45406570	missense	possibly damaging	0.94
R1749:Mylip	UTSW	13	45404470	missense	possibly damaging	0.46
R1942:Mylip	UTSW	13	45406696	missense	probably damaging	1.00
R4922:Mylip	UTSW	13	45408762	missense	probably damaging	1.00
R5895:Mylip	UTSW	13	45408702	nonsense	probably null
R6247:Mylip	UTSW	13	45408481	missense	probably damaging	1.00
R8003:Mylip	UTSW	13	45404471	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAAAAGACGCGTGCCTGTAGC -3'
(R):5'- ACCGTAAGCGTCCTCTATGC -3'

Sequencing Primer
(F):5'- TGTAGCTCCCGGGAACTG -3'
(R):5'- GCACTCTCCACTCGCGG -3'

Posted On

2015-07-06