Mutagenetix > Incidental Mutation

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, Idol, 9430057C20Rik

MMRRC Submission

042002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4384 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

45543218-45565498 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 45543434 bp (GRCm39)

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]

AlphaFold

Q8BM54

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: 86,792,805 (GRCm39)	V27E	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,980,157 (GRCm39)	C132*	probably null	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Brip1	A	T	11: 86,039,255 (GRCm39)	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,987 (GRCm39)	Q654L	probably benign	Het
Calr3	T	A	8: 73,182,008 (GRCm39)	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,896,274 (GRCm39)	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Ddias	G	A	7: 92,507,431 (GRCm39)	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,729,687 (GRCm39)	Y763C	probably damaging	Het
Dscam	T	A	16: 96,510,416 (GRCm39)	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,569,141 (GRCm39)		probably benign	Het
E2f8	G	A	7: 48,516,847 (GRCm39)	T844I	possibly damaging	Het
Eps8	T	A	6: 137,476,590 (GRCm39)	H603L	probably benign	Het
Esrrg	G	A	1: 187,775,908 (GRCm39)	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,599,374 (GRCm39)	R467*	probably null	Het
Gad2	G	A	2: 22,575,422 (GRCm39)	V509I	probably benign	Het
Gpat4	A	G	8: 23,664,602 (GRCm39)	I446T	probably benign	Het
Klhl12	T	G	1: 134,415,392 (GRCm39)	D435E	probably damaging	Het
Luc7l	T	C	17: 26,498,936 (GRCm39)		probably benign	Het
Marchf2	C	A	17: 33,915,167 (GRCm39)	M142I	probably benign	Het
Marf1	T	A	16: 13,960,505 (GRCm39)	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,532,344 (GRCm39)	D114G	possibly damaging	Het
Med1	G	A	11: 98,043,688 (GRCm39)		probably benign	Het
Meikin	C	T	11: 54,308,613 (GRCm39)	Q404*	probably null	Het
Myh9	A	T	15: 77,675,912 (GRCm39)		probably benign	Het
Ncapg2	T	C	12: 116,403,497 (GRCm39)		probably null	Het
Nmd3	T	C	3: 69,631,731 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,914 (GRCm39)	L1166H	probably damaging	Het
Or1j13	A	G	2: 36,370,010 (GRCm39)	L44P	probably damaging	Het
Or8b48	T	C	9: 38,493,349 (GRCm39)	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,677,272 (GRCm39)	I71T	probably damaging	Het
Rwdd3	T	C	3: 120,952,406 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,620,119 (GRCm39)	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,446,116 (GRCm39)	Q273R	probably benign	Het
Sdha	A	T	13: 74,475,104 (GRCm39)	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,856,919 (GRCm39)	L771P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,224,688 (GRCm39)	E624G	possibly damaging	Het
Tada3	G	T	6: 113,347,340 (GRCm39)	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,236,372 (GRCm39)	M130V	probably damaging	Het
Trpc1	C	A	9: 95,614,161 (GRCm39)	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,482,427 (GRCm39)	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,753,559 (GRCm39)	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,246,546 (GRCm39)	S80P	probably benign	Het
Usp54	A	T	14: 20,600,153 (GRCm39)		probably null	Het
Vmn2r27	A	G	6: 124,201,115 (GRCm39)	Y281H	probably benign	Het
Vwf	T	A	6: 125,632,079 (GRCm39)	I37N	unknown	Het
Zfp329	G	A	7: 12,545,584 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,005 (GRCm39)	L91F	possibly damaging	Het

Other mutations in Mylip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Mylip	APN	13	45,562,043 (GRCm39)	missense	probably benign	0.03
IGL01603:Mylip	APN	13	45,543,479 (GRCm39)	missense	probably benign	0.13
IGL01919:Mylip	APN	13	45,562,178 (GRCm39)	missense	probably damaging	1.00
IGL02341:Mylip	APN	13	45,544,752 (GRCm39)	missense	probably damaging	0.99
IGL02657:Mylip	APN	13	45,544,722 (GRCm39)	missense	probably benign
IGL03239:Mylip	APN	13	45,560,101 (GRCm39)	missense	possibly damaging	0.89
PIT4283001:Mylip	UTSW	13	45,560,110 (GRCm39)	missense	possibly damaging	0.46
R0482:Mylip	UTSW	13	45,558,059 (GRCm39)	missense	probably benign	0.11
R1217:Mylip	UTSW	13	45,560,178 (GRCm39)	missense	probably damaging	1.00
R1318:Mylip	UTSW	13	45,559,401 (GRCm39)	missense	probably benign
R1341:Mylip	UTSW	13	45,559,412 (GRCm39)	missense	probably damaging	0.98
R1531:Mylip	UTSW	13	45,560,046 (GRCm39)	missense	possibly damaging	0.94
R1749:Mylip	UTSW	13	45,557,946 (GRCm39)	missense	possibly damaging	0.46
R1942:Mylip	UTSW	13	45,560,172 (GRCm39)	missense	probably damaging	1.00
R4922:Mylip	UTSW	13	45,562,238 (GRCm39)	missense	probably damaging	1.00
R5895:Mylip	UTSW	13	45,562,178 (GRCm39)	nonsense	probably null
R6247:Mylip	UTSW	13	45,561,957 (GRCm39)	missense	probably damaging	1.00
R8003:Mylip	UTSW	13	45,557,947 (GRCm39)	missense	probably benign	0.00
R8085:Mylip	UTSW	13	45,563,928 (GRCm39)	missense	possibly damaging	0.86
R8256:Mylip	UTSW	13	45,561,833 (GRCm39)	missense	probably damaging	1.00
R8969:Mylip	UTSW	13	45,544,820 (GRCm39)	missense	probably damaging	0.97

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