Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02341:Mylip'

289112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mylip

Ensembl Gene

ENSMUSG00000038175

Gene Name

myosin regulatory light chain interacting protein

Synonyms

Mir, 9430057C20Rik, Idol

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02341

Quality Score

Status

Chromosome

Chromosomal Location

45389742-45412022 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45391276 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 59 (R59G)

Ref Sequence

ENSEMBL: ENSMUSP00000047403 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038275
AA Change: R59G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: R59G

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

Coding Region Coverage

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	T	C	11: 58,612,830	S17G	possibly damaging	Het
Arid2	C	T	15: 96,372,185	S1393L	probably benign	Het
Bahcc1	T	A	11: 120,272,520	I548N	probably damaging	Het
Baiap3	A	T	17: 25,248,316	L405Q	possibly damaging	Het
Cacna1g	T	G	11: 94,462,152	Q349P	probably damaging	Het
Ccdc30	T	C	4: 119,356,781	T184A	possibly damaging	Het
Ccdc63	A	G	5: 122,113,198	I383T	probably benign	Het
Ccnk	A	G	12: 108,195,730	E298G	unknown	Het
Ccnt1	T	C	15: 98,546,783	E223G	possibly damaging	Het
Clcc1	T	A	3: 108,673,383	L333I	possibly damaging	Het
Cyp2b10	G	A	7: 25,911,242	R59Q	probably benign	Het
Cyp3a41b	T	A	5: 145,573,651	T138S	probably benign	Het
Dennd4a	C	T	9: 64,842,561	R145*	probably null	Het
Dnah8	A	T	17: 30,747,257	I2474F	probably damaging	Het
Dok1	T	C	6: 83,033,054	T25A	probably damaging	Het
Ears2	G	A	7: 122,039,764	A479V	probably benign	Het
Erc1	T	A	6: 119,594,973	I981F	possibly damaging	Het
Fam129c	A	T	8: 71,603,799	N381I	possibly damaging	Het
Gm8730	A	G	8: 102,865,143		noncoding transcript	Het
Gm9962	C	T	7: 57,387,294		probably benign	Het
Has3	A	T	8: 106,874,005	Y33F	probably damaging	Het
Hk1	A	G	10: 62,284,380	S607P	possibly damaging	Het
Hlcs	T	A	16: 94,231,110	I612F	probably damaging	Het
Llgl2	T	A	11: 115,851,120	S663T	possibly damaging	Het
Lrriq1	T	C	10: 103,224,941	H100R	probably benign	Het
Magi2	T	A	5: 20,466,203	I678N	probably damaging	Het
Megf11	G	A	9: 64,544,620	G109S	probably damaging	Het
Morc2b	A	T	17: 33,137,307	I497K	probably damaging	Het
Mybpc2	A	C	7: 44,514,930	S404A	probably benign	Het
Mylk3	A	T	8: 85,351,972	I501N	probably damaging	Het
Myo19	A	G	11: 84,888,045		probably benign	Het
Nat2	A	G	8: 67,501,718	Y160C	possibly damaging	Het
Nf1	C	T	11: 79,564,926	A2554V	probably benign	Het
Ninl	A	T	2: 150,944,605	C153*	probably null	Het
Nlrp5	C	T	7: 23,404,152	R15C	probably benign	Het
Nphp4	A	T	4: 152,555,469		probably benign	Het
Obscn	C	A	11: 59,135,825	R184L	probably benign	Het
Olfr767	A	T	10: 129,079,461	C167*	probably null	Het
Olfr771	T	A	10: 129,160,433	I184F	probably benign	Het
Olfr804	A	T	10: 129,705,489	T204S	probably damaging	Het
Phip	A	T	9: 82,932,883	V262D	probably damaging	Het
Ptprg	T	A	14: 12,154,360	S694T	probably benign	Het
Reck	T	A	4: 43,925,160	D466E	probably damaging	Het
Rimbp2	G	T	5: 128,800,961	Y213*	probably null	Het
Scn2a	C	T	2: 65,688,377	T365M	probably damaging	Het
Scpep1	T	A	11: 88,944,488	T120S	probably benign	Het
Sp7	T	A	15: 102,359,222	T50S	possibly damaging	Het
Tbc1d1	A	G	5: 64,275,407	R304G	probably damaging	Het
Tiam1	A	G	16: 89,898,369	S67P	probably damaging	Het
Tjp1	G	A	7: 65,312,634	T1185I	probably damaging	Het
Tspan2	T	A	3: 102,765,213	I178N	probably damaging	Het
Tusc2	T	A	9: 107,564,910	*103R	probably null	Het
Uggt1	A	T	1: 36,164,519	*47R	probably null	Het
Unc13c	T	A	9: 73,933,210	I120F	possibly damaging	Het
Vcpip1	T	A	1: 9,724,950	K1065N	possibly damaging	Het
Zfp532	C	A	18: 65,624,778	P594Q	probably 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
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
R4384:Mylip	UTSW	13	45389958	start codon destroyed	probably null	0.95
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

Posted On

2015-04-16