Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02876:Myrip'

406233

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02876

Quality Score

Status

Chromosome

Chromosomal Location

120301513-120474841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120432674 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 451 (D451V)

Ref Sequence

ENSEMBL: ENSMUSP00000046891 (fasta)

Gene Model

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

AlphaFold

Q8K3I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000048121
AA Change: D451V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: D451V

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

unknown
Transcript: ENSMUST00000214784
AA Change: D446V

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,919,841	V564A	probably damaging	Het
Adamts15	A	T	9: 30,904,522	N679K	probably damaging	Het
Angpt1	T	G	15: 42,426,977	D497A	possibly damaging	Het
Asap2	A	G	12: 21,258,163	K849R	probably benign	Het
Aspm	T	C	1: 139,473,653	V1137A	probably damaging	Het
Atp12a	A	G	14: 56,373,289	I297V	probably benign	Het
Atp2a2	A	G	5: 122,466,008	V454A	probably benign	Het
Carmil1	T	A	13: 24,154,668		probably benign	Het
Csmd2	A	T	4: 128,321,335	K517*	probably null	Het
Csmd3	A	T	15: 47,606,096		probably benign	Het
Cyp2d11	T	A	15: 82,389,496	Q427L	possibly damaging	Het
Eml5	C	T	12: 98,858,841	V706M	probably damaging	Het
Entpd8	A	C	2: 25,085,060	S428R	probably benign	Het
Gm10283	T	C	8: 60,501,219		probably benign	Het
Gm13124	A	G	4: 144,555,773	Y150H	probably damaging	Het
Gpatch3	T	A	4: 133,580,684	V363E	probably damaging	Het
Hoxb5	T	A	11: 96,303,768	M52K	probably damaging	Het
Ift52	T	C	2: 163,036,707	V307A	probably benign	Het
Igkv1-115	T	C	6: 68,161,440		noncoding transcript	Het
Kdm5a	T	C	6: 120,390,644		probably benign	Het
Lama1	T	A	17: 67,750,692		probably null	Het
Lrp6	G	A	6: 134,456,114	P1418L	probably benign	Het
Mill2	T	C	7: 18,856,507	F156L	probably damaging	Het
Mnat1	A	G	12: 73,170,604	R85G	probably damaging	Het
Olfr397	A	T	11: 73,964,713	Y35F	possibly damaging	Het
Pdzph1	C	A	17: 58,974,069	S406I	probably benign	Het
Ptprb	A	G	10: 116,348,211		probably benign	Het
Rxfp4	T	A	3: 88,652,435	R236S	possibly damaging	Het
Ryr2	T	C	13: 11,707,793	M2604V	probably benign	Het
Setd1a	G	A	7: 127,778,501		probably benign	Het
Spata33	A	T	8: 123,221,980	H88L	probably damaging	Het
Spcs3	A	T	8: 54,526,451	N98K	probably damaging	Het
Srgap3	A	G	6: 112,771,453	S413P	probably damaging	Het
Stap2	T	C	17: 55,999,961	R239G	probably benign	Het
Surf6	A	G	2: 26,892,626	Y230H	probably damaging	Het
Tasp1	C	T	2: 139,834,363	V382M	probably benign	Het
Tnc	G	T	4: 64,015,101	A642E	possibly damaging	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	Het
Vmn2r110	T	A	17: 20,574,296	T704S	probably damaging	Het
Vtcn1	A	T	3: 100,883,829	D61V	probably damaging	Het
Zc3h12d	G	A	10: 7,862,600	M223I	probably damaging	Het
Zfp592	T	A	7: 81,038,127	S934T	probably benign	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
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
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

Posted On

2016-08-02