Mutagenetix > Incidental Mutation

Incidental Mutation 'R4125:Myrip'

315360

Institutional Source

Beutler Lab

Gene Symbol

Myrip

Ensembl Gene

ENSMUSG00000041794

Gene Name

myosin VIIA and Rab interacting protein

Synonyms

A230081N12Rik, Slac2-c

MMRRC Submission

041633-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120301513-120474841 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 120464698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 753 (S753*)

Ref Sequence

ENSEMBL: ENSMUSP00000046891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048121]

AlphaFold

Q8K3I4

Predicted Effect

probably null
Transcript: ENSMUST00000048121
AA Change: S753*

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: S753*

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	8	125	3.8e-46	PFAM
Pfam:Rab_eff_C	152	856	N/A	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	T	A	3: 98,161,363	C43S	probably damaging	Het
Adamts6	A	T	13: 104,312,904	Y274F	probably damaging	Het
Ap2b1	A	G	11: 83,365,645		probably null	Het
Atm	A	C	9: 53,450,621	L2732R	probably damaging	Het
Bbox1	A	G	2: 110,270,180	V224A	probably benign	Het
Bmpr1a	T	C	14: 34,434,733	D112G	probably benign	Het
Cdk19	A	G	10: 40,394,395	I67V	probably benign	Het
Cds2	A	G	2: 132,297,271	T145A	probably benign	Het
Chd9	A	G	8: 91,051,284	D2641G	probably damaging	Het
Chn2	G	T	6: 54,272,978	R24M	probably damaging	Het
Chuk	T	C	19: 44,100,174	I121V	probably null	Het
Ctsr	A	T	13: 61,161,845	D183E	probably benign	Het
Elp3	T	C	14: 65,560,181	E347G	possibly damaging	Het
Fam160a1	A	G	3: 85,665,383	S988P	possibly damaging	Het
Gm13078	C	T	4: 143,726,280	R94*	probably null	Het
Gnas	A	G	2: 174,300,165	N709S	possibly damaging	Het
Gramd3	T	C	18: 56,485,224	S199P	probably damaging	Het
Gtf3c1	A	T	7: 125,647,450	C1562*	probably null	Het
Ifit1bl1	T	A	19: 34,594,788	I90F	probably damaging	Het
Igf2r	A	T	17: 12,702,254	H1313Q	possibly damaging	Het
Ighj4	T	C	12: 113,428,556		probably benign	Het
Kansl2	G	T	15: 98,531,755	P132Q	possibly damaging	Het
Lman1	T	C	18: 65,987,861	H430R	possibly damaging	Het
Lrrk2	T	C	15: 91,815,483	I2511T	probably benign	Het
Lvrn	C	A	18: 46,876,969	P395T	possibly damaging	Het
Nectin4	A	G	1: 171,385,733	S408G	probably benign	Het
Olfr629	T	C	7: 103,741,000	K80R	probably benign	Het
Olfr761	A	G	17: 37,952,790	I78T	probably benign	Het
Pcdhb13	T	C	18: 37,443,820	I417T	probably damaging	Het
Per2	T	C	1: 91,429,450	T664A	possibly damaging	Het
Plec	A	T	15: 76,172,762	L4347Q	probably damaging	Het
Poln	A	G	5: 34,103,951	S561P	probably benign	Het
Polr1a	T	C	6: 71,965,706	F1177L	probably benign	Het
Ptprb	A	T	10: 116,353,849	R1804S	probably benign	Het
Rhof	C	T	5: 123,119,525	V181M	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Slc22a12	T	C	19: 6,538,788	E281G	probably damaging	Het
Slco6b1	T	A	1: 96,987,897		noncoding transcript	Het
Stac	C	A	9: 111,604,058		probably null	Het
Tcof1	C	A	18: 60,819,601	A898S	unknown	Het
Tep1	C	T	14: 50,843,734	R1349Q	possibly damaging	Het
Thoc6	A	T	17: 23,669,345		probably benign	Het
Tmem179	A	T	12: 112,511,027	F8I	possibly damaging	Het
Tnpo3	A	G	6: 29,560,092	L684P	probably damaging	Het
Ubash3a	T	C	17: 31,237,275	Y506H	probably damaging	Het
Umps	G	A	16: 33,956,918	Q431*	probably null	Het
Unc13c	A	G	9: 73,574,007		probably null	Het
Vmn1r210	A	T	13: 22,827,609	M169K	probably benign	Het
Zfp946	C	T	17: 22,454,567	Q101*	probably null	Het

Other mutations in Myrip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01924:Myrip	APN	9	120388264	missense	probably damaging	1.00
IGL02108:Myrip	APN	9	120467565	critical splice donor site	probably null
IGL02406:Myrip	APN	9	120467532	missense	probably benign
IGL02876:Myrip	APN	9	120432674	missense	probably damaging	1.00
IGL03109:Myrip	APN	9	120453724	splice site	probably null
IGL03258:Myrip	APN	9	120441352	missense	probably benign	0.45
PIT4581001:Myrip	UTSW	9	120467517	missense	probably damaging	0.98
R0485:Myrip	UTSW	9	120441377	missense	probably benign	0.01
R0633:Myrip	UTSW	9	120388236	missense	probably damaging	1.00
R1489:Myrip	UTSW	9	120432529	missense	probably damaging	1.00
R1539:Myrip	UTSW	9	120424623	missense	probably benign	0.00
R1708:Myrip	UTSW	9	120464774	missense	possibly damaging	0.65
R1817:Myrip	UTSW	9	120388162	missense	probably damaging	1.00
R1818:Myrip	UTSW	9	120388162	missense	probably damaging	1.00
R1878:Myrip	UTSW	9	120424655	missense	probably damaging	0.99
R2484:Myrip	UTSW	9	120424619	missense	probably benign	0.00
R3237:Myrip	UTSW	9	120441407	missense	possibly damaging	0.91
R3890:Myrip	UTSW	9	120422258	missense	probably damaging	1.00
R3912:Myrip	UTSW	9	120432616	missense	probably benign
R3919:Myrip	UTSW	9	120432629	missense	probably damaging	1.00
R4126:Myrip	UTSW	9	120464698	nonsense	probably null
R4128:Myrip	UTSW	9	120464698	nonsense	probably null
R4435:Myrip	UTSW	9	120335614	start gained	probably benign
R4599:Myrip	UTSW	9	120464784	missense	probably damaging	0.97
R5014:Myrip	UTSW	9	120422468	missense	probably damaging	1.00
R5665:Myrip	UTSW	9	120461433	missense	probably damaging	1.00
R5814:Myrip	UTSW	9	120424668	missense	probably benign	0.06
R5849:Myrip	UTSW	9	120453693	missense	probably damaging	0.99
R5986:Myrip	UTSW	9	120461421	missense	probably damaging	1.00
R6706:Myrip	UTSW	9	120388293	missense	possibly damaging	0.93
R7019:Myrip	UTSW	9	120422507	missense	probably damaging	1.00
R7291:Myrip	UTSW	9	120417141	missense	probably damaging	0.97
R8204:Myrip	UTSW	9	120432979	critical splice donor site	probably null
R8557:Myrip	UTSW	9	120417186	missense	probably benign	0.32
R8853:Myrip	UTSW	9	120461421	missense	probably damaging	1.00
R8911:Myrip	UTSW	9	120441418	missense	possibly damaging	0.94
R9106:Myrip	UTSW	9	120432478	missense	probably benign	0.37
R9225:Myrip	UTSW	9	120464784	missense	probably damaging	0.97
Z1177:Myrip	UTSW	9	120432778	missense	probably benign
Z1177:Myrip	UTSW	9	120441481	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATTGTAGCGGTGGATAGAC -3'
(R):5'- CTGCAGATCCTAGATATTTGGCAC -3'

Sequencing Primer
(F):5'- GTGTTGAAGTGCACACCTGTAATCC -3'
(R):5'- AGATATTTGGCACCTTCCAGG -3'

Posted On

2015-05-14