Mutagenetix > Incidental Mutation

Incidental Mutation 'R9106:Myrip'

692029

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120301513-120474841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120432478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 386 (S386P)

Ref Sequence

ENSEMBL: ENSMUSP00000046891 (fasta)

Gene Model

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

AlphaFold

Q8K3I4

Predicted Effect

probably benign
Transcript: ENSMUST00000048121
AA Change: S386P

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: S386P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,328,870	V1138A	possibly damaging	Het
Ahctf1	C	A	1: 179,787,036	K394N	probably benign	Het
Armc4	A	T	18: 7,294,527	S29T	probably benign	Het
Banp	A	T	8: 121,978,633	T81S	possibly damaging	Het
Btn2a2	T	C	13: 23,478,295	E495G	probably benign	Het
Cfap69	T	C	5: 5,640,190	I158M	possibly damaging	Het
Cgnl1	C	A	9: 71,721,591		probably benign	Het
Clip1	T	A	5: 123,615,160	Q186L	probably damaging	Het
Clspn	G	A	4: 126,577,450		probably benign	Het
Cnst	A	G	1: 179,604,597	E224G	probably damaging	Het
Ctdsp1	T	C	1: 74,394,725	L155P	probably damaging	Het
D5Ertd579e	C	T	5: 36,616,338	A238T	probably benign	Het
Dnah6	T	C	6: 73,144,769	Y1410C	probably damaging	Het
Elmsan1	T	C	12: 84,152,553	Y1040C	probably damaging	Het
Fam186a	AGCCGCTGCCGCTGCCGCTGCCGC	AGCCGCTGCCGCTGCCGC	15: 99,946,226		probably benign	Het
Farp2	T	C	1: 93,561,188		probably null	Het
Galnt7	T	G	8: 57,532,695	D547A	probably damaging	Het
Gm1527	C	A	3: 28,902,291	D135E	probably damaging	Het
Gm597	T	C	1: 28,776,894	I686V	probably benign	Het
Grm5	T	C	7: 88,074,539	I679T	probably damaging	Het
Hectd4	C	A	5: 121,329,556	R2523S	possibly damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Htr1f	A	T	16: 64,926,274	S218R	probably damaging	Het
Lrit1	G	A	14: 37,054,934	A4T	unknown	Het
Ly6f	G	T	15: 75,269,857	D50Y	probably damaging	Het
Mafg	GGTTCTTCAGTGT	GGT	11: 120,629,589		probably null	Het
Map2	T	A	1: 66,415,363	Y1137*	probably null	Het
Map4k3	C	A	17: 80,727,828	R21L	possibly damaging	Het
Mapk10	A	T	5: 103,038,576	V90D	probably damaging	Het
Mapkapk3	T	A	9: 107,258,868	E219V	probably damaging	Het
Mos	T	G	4: 3,871,457	I120L	probably benign	Het
Mrgprb4	A	G	7: 48,198,931	V83A	probably benign	Het
Mrnip	A	G	11: 50,174,941	Q19R	probably damaging	Het
Mzt2	A	G	16: 15,848,704	W141R	probably benign	Het
Ncam1	A	G	9: 49,517,556	Y710H	probably damaging	Het
Nlrp9c	G	T	7: 26,382,412	L630I	probably benign	Het
Olfr1201	A	G	2: 88,794,672	T97A	probably benign	Het
Olfr243	G	A	7: 103,717,530	C312Y	probably benign	Het
Olfr420	A	G	1: 174,158,803	Q10R	probably benign	Het
Olfr635	A	T	7: 103,979,374	M61L	probably damaging	Het
Oplah	C	A	15: 76,305,676	G150C	probably benign	Het
Patl1	A	G	19: 11,931,609	K460R	probably damaging	Het
Pdgfrb	A	T	18: 61,046,028		probably null	Het
Phldb2	T	C	16: 45,860,394	I17V	probably benign	Het
Ppp3r1	A	G	11: 17,194,789	D134G	probably damaging	Het
Ppp4r4	C	T	12: 103,604,056	T763I	probably benign	Het
Prmt9	A	G	8: 77,549,729	D61G	probably benign	Het
Ptk2	T	C	15: 73,259,608	M589V	possibly damaging	Het
Rabl6	A	G	2: 25,596,434	W153R	probably benign	Het
Rb1cc1	A	G	1: 6,248,885	I843V		Het
Rnf19b	A	G	4: 129,084,147	E719G		Het
Sart3	T	C	5: 113,754,349	D363G	possibly damaging	Het
Sgo2a	C	A	1: 57,998,124	D9E	possibly damaging	Het
Slc27a5	A	G	7: 12,991,170	V450A	probably benign	Het
Slc8b1	T	A	5: 120,530,351	Y483N	probably damaging	Het
Slco1b2	A	G	6: 141,672,248	T475A	probably damaging	Het
Slfn3	T	C	11: 83,212,632	F110L	probably benign	Het
Ssr2	T	A	3: 88,587,962	Y175N	probably damaging	Het
Tagap	A	T	17: 7,931,448	N222Y	probably damaging	Het
Tecta	C	T	9: 42,367,183	V1010M	probably benign	Het
Trim36	A	T	18: 46,167,597	I669N	possibly damaging	Het
Ubp1	A	G	9: 113,970,251	T425A	probably benign	Het
Usp47	T	C	7: 112,082,506	I508T	probably damaging	Het
Vit	G	A	17: 78,626,849	D627N	probably damaging	Het
Vmn2r59	A	T	7: 42,046,460	I176N	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
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
R8911:Myrip	UTSW	9	120441418	missense	possibly damaging	0.94
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'- TAGGAGATGACGTGTTACCCC -3'
(R):5'- TCTGAATCCGAGCACATGG -3'

Sequencing Primer
(F):5'- TCGCTCCTACAGTAATAATGGAC -3'
(R):5'- CACATGGCCTCAGGGTTTG -3'

Posted On

2021-12-30