Mutagenetix > Incidental Mutation

Incidental Mutation 'R4126:Myrip'

315408

Institutional Source

Beutler Lab

Gene Symbol

Myrip

Ensembl Gene

ENSMUSG00000041794

Gene Name

myosin VIIA and Rab interacting protein

Synonyms

A230081N12Rik, Slac2-c

MMRRC Submission

041634-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4126 (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: 95.2%

Validation Efficiency

89% (33/37)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,531,669	W249R	probably benign	Het
Ank	G	A	15: 27,590,373	V348I	probably benign	Het
Atad3a	A	T	4: 155,754,061		probably benign	Het
Bbox1	A	G	2: 110,270,180	V224A	probably benign	Het
Cdk5rap1	A	G	2: 154,368,895	C108R	probably damaging	Het
Cds2	A	G	2: 132,297,271	T145A	probably benign	Het
Celsr2	G	T	3: 108,402,097	A1614D	possibly damaging	Het
Chd9	A	G	8: 91,051,284	D2641G	probably damaging	Het
E2f8	T	C	7: 48,875,607	I206V	probably damaging	Het
Glyat	G	T	19: 12,651,479	V213F	probably benign	Het
Gpatch1	C	T	7: 35,293,654		probably null	Het
Jarid2	T	C	13: 44,902,256	S313P	probably damaging	Het
Kcnc1	T	C	7: 46,398,002	Y109H	probably damaging	Het
Kif12	C	T	4: 63,166,437	S548N	probably benign	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Naalad2	T	C	9: 18,347,470	Y503C	probably damaging	Het
Nid1	T	C	13: 13,476,372	V498A	probably damaging	Het
Olfr1061	A	T	2: 86,413,224	I276N	probably damaging	Het
Parp8	C	A	13: 116,868,469	K685N	possibly damaging	Het
Prr14l	G	T	5: 32,828,003	H1383N	probably damaging	Het
Pxn	A	G	5: 115,546,907	R264G	probably damaging	Het
Slc6a20a	G	T	9: 123,660,533	F148L	probably damaging	Het
Spag11b	T	C	8: 19,141,379	S23P	possibly damaging	Het
Stac	C	A	9: 111,604,058		probably null	Het
Taf11	T	C	17: 27,901,772	K175E	possibly damaging	Het
Tll1	T	C	8: 64,118,014	R175G	possibly damaging	Het
Trip11	G	A	12: 101,895,698	Q203*	probably null	Het
Usp4	T	C	9: 108,360,117	V128A	probably benign	Het
Zfp788	T	C	7: 41,649,436	F479L	probably damaging	Het
Zmiz1	T	G	14: 25,656,930	S877A	possibly damaging	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
R4125: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'- GCAGATCCTAGATATTTGGCACC -3'

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

Posted On

2015-05-14