Mutagenetix > Incidental Mutation

Incidental Mutation 'R1217:Mylip'

99766

Institutional Source

Beutler Lab

Gene Symbol

Mylip

Ensembl Gene

ENSMUSG00000038175

Gene Name

myosin regulatory light chain interacting protein

Synonyms

Mir, Idol, 9430057C20Rik

MMRRC Submission

039286-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1217 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45543218-45565498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45560178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 205 (E205K)

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: E270K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047403
Gene: ENSMUSG00000038175
AA Change: E270K

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: E205K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.5396

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.6%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	A	T	10: 75,169,049 (GRCm39)	Y171F	probably damaging	Het
Agpat4	C	T	17: 12,429,203 (GRCm39)	R152W	probably damaging	Het
Aldh1a2	A	G	9: 71,188,964 (GRCm39)	N293D	possibly damaging	Het
Ash2l	T	C	8: 26,312,913 (GRCm39)	N441S	probably damaging	Het
Asrgl1	A	T	19: 9,093,864 (GRCm39)		probably null	Het
Capn3	C	A	2: 120,316,902 (GRCm39)	S277*	probably null	Het
Ccdc168	A	T	1: 44,096,339 (GRCm39)	S1586R	possibly damaging	Het
Ccp110	T	C	7: 118,329,167 (GRCm39)		probably benign	Het
Cdh17	T	C	4: 11,799,676 (GRCm39)	V491A	probably benign	Het
Cep170b	T	C	12: 112,707,339 (GRCm39)	S362P	probably damaging	Het
Cfap57	A	G	4: 118,463,849 (GRCm39)	S335P	possibly damaging	Het
Cmklr1	A	T	5: 113,752,107 (GRCm39)	L298Q	probably damaging	Het
Col4a4	A	T	1: 82,466,730 (GRCm39)		probably null	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cyp2d26	A	G	15: 82,677,068 (GRCm39)		probably benign	Het
Cyth3	T	C	5: 143,688,575 (GRCm39)	Y240H	probably damaging	Het
Dhx9	G	A	1: 153,334,109 (GRCm39)	T1017I	probably damaging	Het
Edar	T	C	10: 58,464,453 (GRCm39)	Y62C	probably damaging	Het
Esyt3	C	T	9: 99,200,097 (GRCm39)	G699D	possibly damaging	Het
Fgb	T	C	3: 82,950,564 (GRCm39)	T397A	probably damaging	Het
Foxc1	C	A	13: 31,992,668 (GRCm39)	A493E	unknown	Het
Grid1	T	C	14: 34,542,186 (GRCm39)	M1T	probably null	Het
Ipo4	T	C	14: 55,871,816 (GRCm39)	K113R	probably damaging	Het
Kif21b	A	G	1: 136,080,114 (GRCm39)	E550G	probably damaging	Het
Krt1	T	C	15: 101,757,416 (GRCm39)	K265E	possibly damaging	Het
Lmx1a	G	A	1: 167,618,968 (GRCm39)	R109H	probably damaging	Het
Mcm5	A	G	8: 75,852,919 (GRCm39)	K677R	probably benign	Het
Metap1	A	T	3: 138,180,791 (GRCm39)	L130*	probably null	Het
Mrgpra4	A	G	7: 47,631,085 (GRCm39)	L172P	probably benign	Het
Myo3b	A	C	2: 70,161,224 (GRCm39)	E1128A	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nlrp4d	T	C	7: 10,098,194 (GRCm39)	I823V	probably benign	Het
Odad1	C	T	7: 45,592,182 (GRCm39)		probably benign	Het
Rec114	A	T	9: 58,573,103 (GRCm39)		probably benign	Het
Rimbp2	C	T	5: 128,865,351 (GRCm39)	A666T	probably benign	Het
Siva1	C	T	12: 112,613,355 (GRCm39)	Q68*	probably null	Het
Slc22a27	T	A	19: 7,904,033 (GRCm39)	I35F	probably benign	Het
Slco1a5	T	A	6: 142,200,100 (GRCm39)	N228I	probably damaging	Het
St8sia4	G	A	1: 95,581,464 (GRCm39)	R93C	probably damaging	Het
Tprg1	T	C	16: 25,231,593 (GRCm39)	S190P	probably damaging	Het
Trpc6	A	G	9: 8,658,287 (GRCm39)		probably null	Het
Vmn2r70	C	T	7: 85,208,269 (GRCm39)	C736Y	probably damaging	Het
Zfp629	C	T	7: 127,211,916 (GRCm39)		probably benign	Het
Zswim4	A	G	8: 84,946,601 (GRCm39)	V685A	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
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
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'- TAGCGTCATCACAGAAGTCCCCAG -3'
(R):5'- CTCCACTAGCTCTGCAAATGGAGG -3'

Sequencing Primer
(F):5'- CCTGCTAAGGCGTAGCAAC -3'
(R):5'- CTAGCTCTGCAAATGGAGGTATTC -3'

Posted On

2014-01-15