Mutagenetix > Incidental Mutations

Incidental Mutation 'R5814:Myrip'

447693

Institutional Source

Beutler Lab

Gene Symbol

Myrip

Ensembl Gene

ENSMUSG00000041794

Gene Name

myosin VIIA and Rab interacting protein

Synonyms

A230081N12Rik, Slac2-c

MMRRC Submission

043396-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5814 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120301513-120474841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120424668 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 269 (G269D)

Ref Sequence

ENSEMBL: ENSMUSP00000046891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048121] [ENSMUST00000133173]

Predicted Effect

probably benign
Transcript: ENSMUST00000048121
AA Change: G269D

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: G269D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129168

Predicted Effect

probably benign
Transcript: ENSMUST00000133173

SMART Domains

Protein: ENSMUSP00000122046
Gene: ENSMUSG00000041794

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	8	125	2.1e-44	PFAM
Pfam:Rab_eff_C	152	210	5.4e-34	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000214784
AA Change: G264D

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

91% (52/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 131,139,082	D135G	probably benign	Het
9130409I23Rik	G	A	1: 181,055,098	V142I	probably damaging	Het
Arrdc3	G	T	13: 80,890,579	R220L	possibly damaging	Het
Bace1	A	G	9: 45,860,264	D458G	probably damaging	Het
Cacna1s	A	G	1: 136,107,142	Y1360C	probably benign	Het
Ccnb1-ps	T	C	7: 42,107,098		noncoding transcript	Het
Cd209b	T	C	8: 3,923,348	E112G	probably damaging	Het
Cit	T	A	5: 115,979,419	L1176Q	probably damaging	Het
Clcn3	T	C	8: 60,934,573	Y214C	probably damaging	Het
Clvs2	G	T	10: 33,528,507	Q238K	probably benign	Het
Creb3l3	C	T	10: 81,085,662	V350M	probably benign	Het
Crot	A	C	5: 8,973,996	D373E	probably damaging	Het
Cyp4a12b	T	A	4: 115,432,497	I187N	probably damaging	Het
Dnhd1	C	A	7: 105,719,895	A4291D	possibly damaging	Het
Dnmt3b	A	T	2: 153,672,497	E403D	probably benign	Het
Ect2l	A	T	10: 18,200,009	I43K	probably damaging	Het
Ep400	C	A	5: 110,695,578		probably null	Het
Erp27	A	T	6: 136,911,566	V138E	possibly damaging	Het
Gbp4	G	A	5: 105,119,919	A487V	probably benign	Het
Gm10142	C	A	10: 77,716,123	T106N	probably damaging	Het
Gm11639	T	A	11: 104,736,114		probably benign	Het
Gxylt2	C	A	6: 100,733,235	H112Q	probably damaging	Het
Hexim2	G	A	11: 103,138,383	R87Q	probably damaging	Het
Hgf	A	G	5: 16,602,307	N399S	probably benign	Het
Ikbke	T	A	1: 131,271,779	I302F	probably damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kdm1b	A	G	13: 47,063,146		probably null	Het
Krtap19-9a	T	C	16: 88,924,114		noncoding transcript	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Mmp10	G	A	9: 7,503,620	A164T	possibly damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Paxbp1	G	T	16: 91,030,496	R420S	probably damaging	Het
Pcbp2	T	A	15: 102,483,162	S38R	probably damaging	Het
Pcf11	A	G	7: 92,657,714	V1082A	probably benign	Het
Pkhd1	T	C	1: 20,199,405	E3305G	probably damaging	Het
Pla2g4c	T	A	7: 13,340,618	W250R	probably damaging	Het
Prune2	A	G	19: 17,016,361		probably null	Het
Rpsa	A	G	9: 120,128,485		probably benign	Het
Sema3e	A	G	5: 14,225,666	I262V	probably benign	Het
Setd2	T	A	9: 110,567,758	L1663*	probably null	Het
Sh3d19	G	A	3: 86,126,604	V755I	probably benign	Het
Smim4	A	G	14: 31,124,520		probably null	Het
Spag9	T	A	11: 94,082,828	V14E	possibly damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Sspo	A	T	6: 48,451,884	Q411L	probably damaging	Het
Sycp1	A	C	3: 102,895,897	S532R	probably benign	Het
Taf6l	C	A	19: 8,774,846	A493S	probably benign	Het
Tsnaxip1	A	G	8: 105,843,971	D574G	probably benign	Het
Ttll10	T	A	4: 156,047,627	K117N	possibly damaging	Het
Utp4	T	A	8: 106,912,275	I405K	probably damaging	Het
Vmn2r45	T	A	7: 8,471,476	Y851F	probably benign	Het
Vps33a	T	C	5: 123,565,056	D168G	probably 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
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
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
Z1177:Myrip	UTSW	9	120432778	missense	probably benign
Z1177:Myrip	UTSW	9	120441481	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCATTTGTCAGGTCATTGAGAC -3'
(R):5'- CAGAGAGCACACTCAACTGTAG -3'

Sequencing Primer
(F):5'- ACTAGGTGTCGGTCCAACAC -3'
(R):5'- GAGCACACTCAACTGTAGAAGGC -3'

Posted On

2016-12-15