Mutagenetix > Incidental Mutation

Incidental Mutation 'R1341:Mylip'

157061

Institutional Source

Beutler Lab

Gene Symbol

Mylip

Ensembl Gene

ENSMUSG00000038175

Gene Name

myosin regulatory light chain interacting protein

Synonyms

Mir, Idol, 9430057C20Rik

MMRRC Submission

039406-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45543218-45565498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45559412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 105 (S105T)

Ref Sequence

ENSEMBL: ENSMUSP00000152597 (fasta)

Gene Model

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

AlphaFold

Q8BM54

Predicted Effect

probably damaging
Transcript: ENSMUST00000038275
AA Change: S170T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: S170T

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 damaging
Transcript: ENSMUST00000222178
AA Change: S105T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.0932

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.9%

Validation Efficiency

96% (53/55)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0e2	A	G	6: 48,517,045 (GRCm39)	Y75C	probably benign	Het
Bltp3a	T	C	17: 28,096,393 (GRCm39)		probably benign	Het
Cacna1g	A	G	11: 94,324,582 (GRCm39)	L1190P	probably damaging	Het
Ccdc190	A	G	1: 169,757,586 (GRCm39)	D15G	probably damaging	Het
Cep126	G	T	9: 8,099,777 (GRCm39)	P919Q	possibly damaging	Het
Cfhr4	T	A	1: 139,660,131 (GRCm39)	T665S	probably damaging	Het
Chchd6	A	G	6: 89,361,623 (GRCm39)	V260A	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cramp1	T	C	17: 25,196,514 (GRCm39)	K867E	probably damaging	Het
Dnah6	A	T	6: 73,168,602 (GRCm39)	N440K	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm17421	A	T	12: 113,333,334 (GRCm39)		noncoding transcript	Het
H2bc13	T	C	13: 21,900,280 (GRCm39)	K12E	probably benign	Het
Hdac3	A	G	18: 38,087,766 (GRCm39)	V36A	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Itga10	G	A	3: 96,559,811 (GRCm39)	E489K	probably damaging	Het
Mgat5b	A	C	11: 116,869,223 (GRCm39)	I589L	probably benign	Het
Mindy4	A	G	6: 55,232,601 (GRCm39)	N348S	probably benign	Het
Mmp15	A	G	8: 96,098,931 (GRCm39)	D586G	probably benign	Het
Mmp9	A	G	2: 164,791,247 (GRCm39)	D139G	probably damaging	Het
Morc2a	C	A	11: 3,630,216 (GRCm39)	L471I	possibly damaging	Het
Mycbp2	T	A	14: 103,536,303 (GRCm39)		probably benign	Het
Nat8f4	A	T	6: 85,878,406 (GRCm39)	L39Q	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Obscn	T	C	11: 58,920,198 (GRCm39)		probably benign	Het
Or10ak13	T	C	4: 118,639,579 (GRCm39)	T68A	probably benign	Het
Or11m3	G	A	15: 98,396,135 (GRCm39)	V261M	possibly damaging	Het
Or51k2	T	A	7: 103,596,589 (GRCm39)	V272D	possibly damaging	Het
Or5t7	T	C	2: 86,507,507 (GRCm39)	M57V	possibly damaging	Het
Or9k2	G	T	10: 129,999,185 (GRCm39)	D3E	probably benign	Het
Pramel29	T	C	4: 143,934,129 (GRCm39)	D326G	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Rab11fip1	G	T	8: 27,633,388 (GRCm39)	A1106E	probably damaging	Het
Rfc1	A	G	5: 65,448,537 (GRCm39)	S363P	probably damaging	Het
Skint10	A	G	4: 112,622,228 (GRCm39)		probably benign	Het
Spen	T	C	4: 141,196,711 (GRCm39)	N3595D	possibly damaging	Het
Swsap1	A	G	9: 21,868,450 (GRCm39)	K241E	probably benign	Het
Tab1	A	G	15: 80,044,315 (GRCm39)	T448A	possibly damaging	Het
Tktl1	G	T	X: 73,241,289 (GRCm39)	G302V	probably damaging	Het
Usp25	A	G	16: 76,912,331 (GRCm39)	T1017A	probably benign	Het
Vmn2r78	T	A	7: 86,571,477 (GRCm39)	M429K	possibly damaging	Het
Wdr49	A	T	3: 75,336,640 (GRCm39)	F356I	probably damaging	Het
Wnt1	T	C	15: 98,689,764 (GRCm39)	F184L	probably damaging	Het
Yy1	T	C	12: 108,759,445 (GRCm39)	I36T	unknown	Het
Zbtb39	A	G	10: 127,579,369 (GRCm39)	I648V	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
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
R4384:Mylip	UTSW	13	45,543,434 (GRCm39)	start codon destroyed	probably null	0.95
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'- TACCCGTTGAGCAATCTCACTGGC -3'
(R):5'- ACTACTGATACTGAGCAGGAAGGGC -3'

Sequencing Primer
(F):5'- ATCCCGAGCCATGTCTCAG -3'
(R):5'- atgtatgaatgtGATTGATGACTCAG -3'

Posted On

2014-02-11