Mutagenetix > Incidental Mutations

Incidental Mutation 'R8204:Myrip'

635822

Institutional Source

Beutler Lab

Gene Symbol

Myrip

Ensembl Gene

ENSMUSG00000041794

Gene Name

myosin VIIA and Rab interacting protein

Synonyms

A230081N12Rik, Slac2-c

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8204 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120301513-120474841 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 120432979 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046891 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000048121

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794

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: 99.9%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,166,780	R731H	probably benign	Het
Adrbk2	A	G	5: 112,957,359	F171L	probably benign	Het
Arpp21	T	A	9: 112,136,570	Y408F	noncoding transcript	Het
Atr	T	C	9: 95,935,513	S2086P		Het
BC034090	C	A	1: 155,241,742	G210V	probably damaging	Het
Cdk6	A	G	5: 3,344,461	D32G	probably damaging	Het
Cep126	C	T	9: 8,120,780	E81K	probably damaging	Het
Clec4d	T	A	6: 123,265,364	V25D	probably damaging	Het
Cox8a	A	G	19: 7,215,480	I40T	probably benign	Het
D430042O09Rik	C	T	7: 125,850,742	R993C	probably damaging	Het
Dlg5	A	G	14: 24,160,252	L792P	probably damaging	Het
Egln3	T	C	12: 54,203,224	Y113C	probably benign	Het
Exoc6b	C	T	6: 84,855,522	V397M	probably damaging	Het
Fat2	A	T	11: 55,284,610	L1759Q	probably benign	Het
Flg2	T	A	3: 93,202,767	S701T	unknown	Het
Fopnl	T	C	16: 14,300,206	D150G	probably benign	Het
Git1	G	A	11: 77,505,335	D551N	probably benign	Het
Gpr137	C	T	19: 6,940,378	A21T	probably benign	Het
Hk1	A	G	10: 62,296,744	F175S	probably damaging	Het
Hoxc13	A	G	15: 102,927,360	N308D	probably damaging	Het
Itga9	A	G	9: 118,871,921	N924S	probably damaging	Het
Klhl20	T	C	1: 161,106,844	M202V	probably benign	Het
Krtap19-9a	C	T	16: 88,924,108	G37D	noncoding transcript	Het
Lancl2	C	A	6: 57,737,716	P440Q	probably damaging	Het
Lrba	T	C	3: 86,315,403	I608T	possibly damaging	Het
Lrtm2	T	A	6: 119,317,408	E254V	probably benign	Het
Magi3	A	T	3: 104,051,186	C528S	probably benign	Het
Mast3	T	C	8: 70,788,281	D224G	probably benign	Het
Mfsd7c	GTAGTGTATA	GTA	12: 85,803,148		probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Olfr1278	A	G	2: 111,293,140	R291G	probably damaging	Het
Olfr313	A	C	11: 58,817,059	D17A	probably benign	Het
Plekhg6	C	T	6: 125,363,498	R633H	probably damaging	Het
Ppp1r7	T	C	1: 93,365,011	V344A	possibly damaging	Het
Ppp2r1a	A	G	17: 20,956,773	E191G	probably benign	Het
Pyroxd2	A	T	19: 42,749,388	V48E	probably benign	Het
Sacs	T	C	14: 61,212,948	S4148P	probably damaging	Het
Sh3tc2	T	C	18: 61,953,129	F5S	probably damaging	Het
Skint8	T	C	4: 111,938,893	S255P	probably benign	Het
Tacc2	A	T	7: 130,624,429	Q948L	probably damaging	Het
Tcerg1	T	A	18: 42,574,553	L1046Q	probably damaging	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tfcp2	G	T	15: 100,522,448	Q169K	possibly damaging	Het
Tpp1	A	T	7: 105,750,315	L82Q	probably damaging	Het
Trpc7	A	G	13: 56,783,796	S697P	probably benign	Het
Vmn1r55	A	T	7: 5,147,286	I46N	possibly damaging	Het
Wdfy3	A	G	5: 101,852,585	V2973A	probably benign	Het
Xrcc1	T	C	7: 24,572,284	V564A	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
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
Z1177:Myrip	UTSW	9	120432778	missense	probably benign
Z1177:Myrip	UTSW	9	120441481	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAGAACTGGACGTCAATTTC -3'
(R):5'- CGTTGATGTTCTGGTCAAGCTC -3'

Sequencing Primer
(F):5'- TGGACGTCAATTTCAACCCTCAG -3'
(R):5'- TGTTCTGGTCAAGCTCAAGAGACAC -3'

Posted On

2020-07-13