Mutagenetix > Incidental Mutation

Incidental Mutation 'R8911:Myrip'

678631

Institutional Source

Beutler Lab

Gene Symbol

Myrip

Ensembl Gene

ENSMUSG00000041794

Gene Name

myosin VIIA and Rab interacting protein

Synonyms

A230081N12Rik, Slac2-c

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120301513-120474841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120441418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 578 (E578G)

Ref Sequence

ENSEMBL: ENSMUSP00000046891 (fasta)

Gene Model

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

AlphaFold

Q8K3I4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048121
AA Change: E578G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: E578G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,281,115	I774F	probably benign	Het
3425401B19Rik	A	T	14: 32,661,669	C780S	possibly damaging	Het
Abca12	T	C	1: 71,341,531	D306G	probably benign	Het
Adgrl2	T	C	3: 148,852,527		probably benign	Het
Agt	T	C	8: 124,564,445	Y41C	probably benign	Het
Alx3	G	T	3: 107,604,287	R204L	probably damaging	Het
Arih2	C	G	9: 108,611,739	R260P	probably damaging	Het
Bcl11a	C	T	11: 24,164,763	P702L	probably damaging	Het
Bpifa2	A	G	2: 154,009,170	N17S	probably benign	Het
Cabcoco1	T	C	10: 68,541,754	D35G	probably benign	Het
Cd69	T	C	6: 129,275,224	K21R	probably benign	Het
Cntn4	T	C	6: 106,353,782		probably null	Het
Cntnap5c	A	C	17: 58,199,048	N689T	probably damaging	Het
Cog5	A	G	12: 31,833,239	Y389C	probably damaging	Het
Col5a1	T	C	2: 27,997,618		probably null	Het
Coro1b	G	A	19: 4,150,804	R245Q	probably damaging	Het
Csmd1	T	C	8: 16,698,003	D244G	probably damaging	Het
Ctcfl	C	T	2: 173,095,328		probably null	Het
Dpy19l4	G	A	4: 11,317,078	P40L	possibly damaging	Het
Dsg4	C	A	18: 20,451,872	Y214*	probably null	Het
Eapp	A	T	12: 54,692,655		probably benign	Het
Fmo6	T	C	1: 162,920,545	T317A	possibly damaging	Het
Gm11595	A	G	11: 99,772,738	C39R	unknown	Het
Gm281	T	C	14: 13,823,796		probably null	Het
Golim4	T	C	3: 75,906,396		probably benign	Het
Greb1	G	A	12: 16,690,902	S1393L	possibly damaging	Het
Guca1b	A	G	17: 47,389,119	I73V	probably benign	Het
Hdac7	C	T	15: 97,796,908	V796I	possibly damaging	Het
Hectd1	A	G	12: 51,748,833	I2271T	probably damaging	Het
Heg1	T	G	16: 33,738,257	Y1066*	probably null	Het
Helz2	C	A	2: 181,238,380	K514N		Het
Ice1	C	T	13: 70,592,668	R70Q		Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Itgae	A	G	11: 73,113,621	T245A	probably damaging	Het
Jhy	G	A	9: 40,911,157	Q562*	probably null	Het
Khnyn	A	G	14: 55,887,278	R330G	probably benign	Het
Lamc2	A	T	1: 153,152,127	C184S	probably damaging	Het
Lhx5	T	A	5: 120,436,444	L271*	probably null	Het
Magel2	G	A	7: 62,379,789	V814M	unknown	Het
Manf	A	G	9: 106,890,262	I85T	possibly damaging	Het
Mgmt	A	G	7: 137,128,065	T203A	probably benign	Het
Mmp9	C	T	2: 164,952,648	S520F	possibly damaging	Het
Naaladl2	A	G	3: 23,846,593	M691T	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Olfr1217	T	C	2: 89,023,950	N18D	probably benign	Het
Olfr1222	T	C	2: 89,125,264	I156V	probably benign	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Pcdhga12	A	T	18: 37,767,065	M317L	possibly damaging	Het
Pcnt	T	G	10: 76,387,525	K1941T	probably damaging	Het
Pde4dip	A	T	3: 97,743,601	M896K	probably benign	Het
Pfkfb3	A	T	2: 11,482,443		probably null	Het
Pik3cb	A	G	9: 99,064,148	S542P	probably benign	Het
Pik3cg	A	G	12: 32,197,258	V822A	probably benign	Het
Plcl2	G	T	17: 50,608,113	G717C	probably damaging	Het
Ptprs	C	T	17: 56,423,320	A1185T	probably benign	Het
Ptpru	T	A	4: 131,776,249	I1157F	probably damaging	Het
Rbbp6	A	G	7: 122,992,045	T457A	possibly damaging	Het
Rdh16f2	A	G	10: 127,876,943	E270G	probably damaging	Het
Rrp15	C	T	1: 186,721,444	E269K	unknown	Het
Sec23b	T	C	2: 144,559,396	V59A	probably benign	Het
Slc22a21	A	T	11: 53,955,983		probably null	Het
Sp5	C	A	2: 70,476,618	P216T	probably benign	Het
Synj1	A	T	16: 90,978,734	D385E	probably damaging	Het
Trim37	C	T	11: 87,206,803	S808F	possibly damaging	Het
Tsks	A	T	7: 44,943,270		probably benign	Het
Upf1	A	T	8: 70,338,437	S563T	possibly damaging	Het
Upf2	A	G	2: 5,983,082	D580G	unknown	Het
Usp14	A	G	18: 9,996,194	I462T	probably damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Vmn1r184	C	G	7: 26,266,885	Q19E	possibly damaging	Het
Vps50	C	A	6: 3,516,710	A64E	probably benign	Het
Zc3h11a	T	A	1: 133,638,601	N211I	probably damaging	Het
Zfp518a	A	C	19: 40,913,426	K600Q	possibly damaging	Het
Zfp729a	A	T	13: 67,619,942	S723T	probably benign	Het
Zmynd12	A	T	4: 119,437,089	I88F	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
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
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'- CATTGAGGGGAAAGCTTTCTGG -3'

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

Posted On

2021-08-02