Mutagenetix > Incidental Mutations

Incidental Mutation 'R1708:Myrip'

190238

Institutional Source

Beutler Lab

Gene Symbol

Myrip

Ensembl Gene

ENSMUSG00000041794

Gene Name

myosin VIIA and Rab interacting protein

Synonyms

A230081N12Rik, Slac2-c

MMRRC Submission

039741-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1708 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120301513-120474841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120464774 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 778 (R778S)

Ref Sequence

ENSEMBL: ENSMUSP00000046891 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048121
AA Change: R778S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: R778S

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,964,798	I4F	probably benign	Het
9430007A20Rik	T	C	4: 144,519,941	V19A	probably benign	Het
Abca8a	A	T	11: 110,053,102	S1114T	probably damaging	Het
Adgre1	A	T	17: 57,401,974	Y55F	possibly damaging	Het
Alb	A	C	5: 90,464,051	D113A	possibly damaging	Het
Ankrd33b	C	T	15: 31,305,009	R203Q	probably damaging	Het
Aqp6	T	C	15: 99,602,662	V156A	possibly damaging	Het
AU018091	T	C	7: 3,156,344	S616G	probably damaging	Het
Cfd	T	A	10: 79,891,607	D68E	probably benign	Het
Cntn2	C	T	1: 132,519,198	A725T	probably damaging	Het
Copg2	A	C	6: 30,824,377	D373E	probably damaging	Het
Cyp2d11	T	C	15: 82,390,432	T315A	probably benign	Het
Cyp2j13	G	T	4: 96,062,067	N232K	probably damaging	Het
Cyp2j8	A	T	4: 96,499,595	F210I	probably damaging	Het
Dnah9	G	A	11: 65,915,154	T3373M	probably benign	Het
Eif2ak3	A	G	6: 70,887,806	K549E	probably damaging	Het
Epha3	C	T	16: 63,583,507	V744I	probably damaging	Het
Erich6	T	C	3: 58,616,447	S669G	probably benign	Het
Fam90a1a	A	T	8: 21,961,448	K108N	probably damaging	Het
Fat1	G	A	8: 45,024,792	V2292M	probably damaging	Het
Fibp	T	C	19: 5,463,794	C255R	probably null	Het
Fzd1	A	G	5: 4,755,791	V597A	possibly damaging	Het
Gm12790	G	A	4: 101,967,977	A80V	possibly damaging	Het
Gm2381	A	T	7: 42,820,225	N158K	probably benign	Het
Gm6768	A	G	12: 119,262,233		noncoding transcript	Het
Impg2	T	A	16: 56,265,078	D940E	probably benign	Het
Ints1	A	T	5: 139,762,839	V1071E	probably damaging	Het
Kat5	A	T	19: 5,609,479	Y44*	probably null	Het
Kif1c	C	T	11: 70,728,397	L953F	probably damaging	Het
Klra6	A	C	6: 130,022,714	L97*	probably null	Het
Ly6c2	C	T	15: 75,111,620		probably null	Het
Mettl7a3	A	G	15: 100,335,269	N114D	probably damaging	Het
Mon1a	G	A	9: 107,898,718	E12K	probably benign	Het
Myo3b	A	T	2: 70,245,385	K578*	probably null	Het
Olfr1260	A	G	2: 89,978,038	R87G	probably benign	Het
Olfr1362	C	T	13: 21,611,070	A300T	probably damaging	Het
Olfr1480	T	C	19: 13,529,913	V80A	probably damaging	Het
Olfr399	G	A	11: 74,053,988	T257I	probably damaging	Het
Olfr503	T	A	7: 108,544,574	F14L	probably benign	Het
Panx3	T	C	9: 37,661,391	I288V	probably benign	Het
Pcdh9	G	A	14: 93,888,305	P143L	probably damaging	Het
Pigc	T	A	1: 161,970,724	S92T	probably benign	Het
Pou3f2	C	A	4: 22,487,255	V293L	possibly damaging	Het
Rbm15	A	G	3: 107,331,220	S621P	probably damaging	Het
Rnf220	T	C	4: 117,489,886	S110G	probably benign	Het
Rnf38	A	T	4: 44,143,593	V115D	probably damaging	Het
Rps6ka2	A	G	17: 7,277,530	H347R	probably damaging	Het
Ryr2	T	C	13: 11,587,442		probably null	Het
Sema4f	G	T	6: 82,917,994	P407T	probably damaging	Het
Setbp1	T	C	18: 78,858,467	T662A	probably damaging	Het
Slc27a1	C	A	8: 71,584,630		probably null	Het
Slc41a2	T	A	10: 83,233,732	I519F	probably damaging	Het
Sntg2	C	T	12: 30,373,180	S17N	possibly damaging	Het
Sptb	A	G	12: 76,612,574	L1184P	probably damaging	Het
Taf5l	G	A	8: 124,009,770	Q21*	probably null	Het
Tbc1d32	A	C	10: 56,151,769	S746A	possibly damaging	Het
Tdrd1	T	G	19: 56,842,289	S251R	probably benign	Het
Thap7	C	T	16: 17,528,950	R121Q	probably benign	Het
Tmem50a	A	G	4: 134,898,468	V146A	probably benign	Het
Tmprss15	T	C	16: 79,054,070	I327V	possibly damaging	Het
Ttc23	T	C	7: 67,667,176	I65T	probably damaging	Het
Vmn1r22	G	T	6: 57,900,496	H165Q	possibly damaging	Het
Vopp1	C	T	6: 57,762,512	R17H	probably damaging	Het
Vwa5a	A	G	9: 38,727,832	K337E	probably benign	Het
Wrap53	G	A	11: 69,563,935	R203*	probably null	Het
Zfp944	T	C	17: 22,339,045	Y407C	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
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
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	not run
Z1177:Myrip	UTSW	9	120432778	missense	probably benign
Z1177:Myrip	UTSW	9	120441481	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTGTAGCGGTGGATAGACCAGTC -3'
(R):5'- ACATACCTTTCACAGGAGGGGCAG -3'

Sequencing Primer
(F):5'- aggaggtgaaggcaggag -3'
(R):5'- GGCAGGCAGTTTCCTCCTC -3'

Posted On

2014-05-14