Mutagenetix > Incidental Mutation

Incidental Mutation 'R3237:Myrip'

259102

Institutional Source

Beutler Lab

Gene Symbol

Myrip

Ensembl Gene

ENSMUSG00000041794

Gene Name

myosin VIIA and Rab interacting protein

Synonyms

A230081N12Rik, Slac2-c

MMRRC Submission

040619-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120301513-120474841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120441407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 574 (D574E)

Ref Sequence

ENSEMBL: ENSMUSP00000046891 (fasta)

Gene Model

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

AlphaFold

Q8K3I4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048121
AA Change: D574E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: D574E

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Aff2	T	A	X: 69,863,937	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,823,087		probably null	Het
Bcar3	C	A	3: 122,524,996	Q678K	probably benign	Het
Ccm2	G	A	11: 6,570,090	V53I	probably benign	Het
Cd3e	G	T	9: 45,002,310	C42*	probably null	Het
Cd4	A	T	6: 124,867,670	I384N	probably benign	Het
Ceacam11	T	A	7: 17,973,454	F54L	probably benign	Het
Cfap46	A	G	7: 139,617,590	S2122P	probably damaging	Het
Clptm1	A	G	7: 19,635,346	S461P	probably damaging	Het
Dlat	T	C	9: 50,638,031	T518A	possibly damaging	Het
Dnah17	T	C	11: 118,094,854	T1466A	probably benign	Het
Dnah9	G	A	11: 65,954,989	T3023I	probably benign	Het
Fam181a	T	G	12: 103,316,089	C84W	possibly damaging	Het
Fam198a	C	T	9: 121,964,869	P30S	possibly damaging	Het
H2-Q6	C	A	17: 35,425,700	T155K	probably damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Inpp5b	A	G	4: 124,780,486	R329G	probably benign	Het
Klrb1f	A	T	6: 129,054,343	I168L	possibly damaging	Het
Lama4	A	T	10: 39,097,179	I1581F	probably damaging	Het
Lipn	A	G	19: 34,068,738	N37S	probably benign	Het
Lyzl4	T	C	9: 121,584,167	D65G	probably benign	Het
Med29	A	G	7: 28,392,621		probably benign	Het
N4bp3	A	T	11: 51,645,934	F104Y	probably damaging	Het
Nlrp9a	A	T	7: 26,571,385	K892*	probably null	Het
Nsd1	T	A	13: 55,312,888	H2309Q	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Optn	T	C	2: 5,034,203	S370G	probably damaging	Het
Pbrm1	T	C	14: 31,032,475	F151L	probably damaging	Het
Plekhs1	A	T	19: 56,464,600		probably null	Het
Rpn1	A	G	6: 88,103,414	K565R	probably benign	Het
Rrh	T	C	3: 129,811,711	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryr1	C	T	7: 29,069,650		probably null	Het
Scai	C	T	2: 39,150,314		probably benign	Het
Scap	C	G	9: 110,379,582	P564A	probably damaging	Het
Setdb1	A	G	3: 95,338,754	V619A	probably damaging	Het
Slc41a3	T	C	6: 90,636,865	Y226H	probably benign	Het
Slf2	A	G	19: 44,942,334	I617V	probably benign	Het
Sned1	G	A	1: 93,259,003	R180Q	probably benign	Het
Spata22	T	A	11: 73,345,887	F340I	probably damaging	Het
St8sia3	T	C	18: 64,269,815	F175S	probably damaging	Het
Supt20	T	C	3: 54,709,080	S253P	possibly damaging	Het
Syngap1	T	A	17: 26,957,093	Y118*	probably null	Het
Szt2	A	C	4: 118,383,034		probably null	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Uba3	G	T	6: 97,186,240	T319K	probably damaging	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Zc3hav1	A	G	6: 38,319,715	L751S	probably damaging	Het
Zfp804b	T	C	5: 6,769,239	M1275V	probably benign	Het
Zgrf1	A	G	3: 127,613,375	D1597G	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
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

Predicted Primers

PCR Primer
(F):5'- AAAGACTTGCTGTTGCCCTG -3'
(R):5'- CACATTGAGGGGAAAGCTTTCTG -3'

Sequencing Primer
(F):5'- CTGGGCTTCCTTACCTGGG -3'
(R):5'- AAAGCTTTCTGGGGCCAG -3'

Posted On

2015-01-23