Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4581001:Myrip'

556511

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 #

PIT4581001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120301513-120474841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120467517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 831 (S831P)

Ref Sequence

ENSEMBL: ENSMUSP00000046891 (fasta)

Gene Model

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

AlphaFold

Q8K3I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000048121
AA Change: S831P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: S831P

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: 92.9%
3x: 90.6%
10x: 84.5%
20x: 71.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,343,832	H522R	probably benign	Het
Adcy8	A	T	15: 64,754,817	I724N	probably damaging	Het
BC117090	T	C	16: 36,322,932	I52V	probably benign	Het
Ctsj	A	T	13: 61,002,556	C210S	probably damaging	Het
Cyp2d12	A	G	15: 82,558,451	E365G	probably damaging	Het
Dbi	A	T	1: 120,119,912	V85E	probably damaging	Het
Dhrs7b	A	G	11: 60,851,897	I153M	possibly damaging	Het
Dock10	C	A	1: 80,505,446	C2096F	probably damaging	Het
Eid3	T	A	10: 82,867,755	I350K	probably damaging	Het
Fam83b	A	T	9: 76,491,152	F890I	probably damaging	Het
Fras1	G	A	5: 96,555,301	D308N	probably benign	Het
Ftsj3	T	C	11: 106,249,476	D822G	unknown	Het
Gabra5	T	C	7: 57,488,857	T148A	probably damaging	Het
Gad1	A	G	2: 70,599,667	D526G	probably benign	Het
Gm12184	A	G	11: 48,826,144	I69T	possibly damaging	Het
Gm21698	T	A	5: 25,987,352	T79S	probably benign	Het
Gon4l	T	G	3: 88,895,514	V1144G	probably damaging	Het
Ighv1-24	A	T	12: 114,773,183	N32K	probably benign	Het
Islr	T	C	9: 58,157,201	N341S	possibly damaging	Het
Mybph	A	G	1: 134,194,741	T175A	probably benign	Het
Mycn	T	C	12: 12,940,243	K51E	possibly damaging	Het
Myh14	T	C	7: 44,613,482	N1763D	probably benign	Het
Neb	G	T	2: 52,288,802	A1314E	probably damaging	Het
Notch2	T	C	3: 98,104,462	Y599H	probably damaging	Het
Npr1	C	A	3: 90,462,257	G387V	probably damaging	Het
Olfr49	T	A	14: 54,282,538	D119V	probably damaging	Het
Orai2	G	A	5: 136,150,510	T223M	probably damaging	Het
Pcdhga5	A	G	18: 37,696,857	E786G	probably benign	Het
Pde6b	A	G	5: 108,428,508	T749A	probably benign	Het
Pdzrn3	A	G	6: 101,151,503	V734A	probably benign	Het
Pkd1l1	GCC	GCCC	11: 8,916,298		probably null	Het
Recql5	C	A	11: 115,932,856	K21N	possibly damaging	Het
Rimbp3	G	A	16: 17,210,716	S668N	possibly damaging	Het
Sdr42e1	A	T	8: 117,663,518	I128N	probably damaging	Het
Shprh	TAAAA	T	10: 11,192,494		probably null	Het
Slc15a2	A	T	16: 36,772,043	C251S	probably benign	Het
Slc17a4	A	T	13: 23,902,018	S329T	probably damaging	Het
Slc35a1	A	G	4: 34,669,501	V246A	possibly damaging	Het
Slc37a2	A	T	9: 37,237,405	S260R	probably benign	Het
Slco6d1	A	T	1: 98,423,325	I177L	possibly damaging	Het
Tmcc1	A	G	6: 116,043,456	V345A		Het
Tmod2	T	C	9: 75,597,301	Y12C	probably damaging	Het
Top2a	A	T	11: 99,002,964	W1035R	probably damaging	Het
Trpc1	A	G	9: 95,736,921	S126P	probably benign	Het
Ttn	A	G	2: 76,733,961	S28576P	probably damaging	Het
Vmn1r16	A	T	6: 57,322,873	W255R	probably benign	Het
Vmn2r5	T	A	3: 64,503,927	K407*	probably null	Het
Vps13b	G	T	15: 35,534,263	W908C	probably damaging	Het
Ykt6	A	G	11: 5,962,747	K150E	possibly damaging	Het
Zbtb2	A	G	10: 4,369,265	Y254H	possibly damaging	Het
Zfp217	A	G	2: 170,114,583	S832P	probably benign	Het
Zfp595	A	G	13: 67,317,885	S108P	probably benign	Het
Zfp786	A	T	6: 47,819,822	F727L	probably damaging	Het
Zzef1	G	A	11: 72,899,672	V2151I	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
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

Predicted Primers

PCR Primer
(F):5'- TTATGAGGAGGTCCAGAACGTG -3'
(R):5'- GAGAGGAAGGTTGCCTCTTG -3'

Sequencing Primer
(F):5'- TCACATTGAGGAAAGCATACATG -3'
(R):5'- CCTCTTGGGGCTCTGCTGAG -3'

Posted On

2019-06-07