Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Myrip'

444351

Institutional Source

Beutler Lab

Gene Symbol

Myrip

Ensembl Gene

ENSMUSG00000041794

Gene Name

myosin VIIA and Rab interacting protein

Synonyms

A230081N12Rik, Slac2-c

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5665 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

120132996-120305167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120290499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 706 (Y706C)

Ref Sequence

ENSEMBL: ENSMUSP00000046891 (fasta)

Gene Model

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

AlphaFold

Q8K3I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000048121
AA Change: Y706C

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

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: Y706C

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acaca	G	T	11: 84,136,120 (GRCm39)	E492*	probably null	Het
Acp7	T	A	7: 28,315,968 (GRCm39)	K206M	probably benign	Het
Agbl1	T	A	7: 76,239,251 (GRCm39)	F584I	probably damaging	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,238,357 (GRCm39)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,130,371 (GRCm39)	T173P	probably damaging	Het
Asap1	A	G	15: 64,184,302 (GRCm39)	S44P	probably damaging	Het
Btbd7	C	A	12: 102,751,456 (GRCm39)	A1103S	probably benign	Het
Capn10	T	A	1: 92,865,653 (GRCm39)		probably null	Het
Capn7	T	C	14: 31,091,759 (GRCm39)	F719L	probably benign	Het
Casp7	G	A	19: 56,429,414 (GRCm39)	D267N	probably benign	Het
Ccdc13	C	A	9: 121,643,356 (GRCm39)	K348N	probably damaging	Het
Chchd1	T	C	14: 20,753,178 (GRCm39)	F13L	probably benign	Het
Clcn6	T	A	4: 148,099,018 (GRCm39)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,755,602 (GRCm39)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,038,755 (GRCm39)	F278S	probably damaging	Het
Dhx16	C	T	17: 36,201,978 (GRCm39)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,111,378 (GRCm39)	L121P	probably benign	Het
Dpyd	A	G	3: 118,710,741 (GRCm39)	E383G	probably damaging	Het
Eif4g3	A	G	4: 137,853,900 (GRCm39)	T489A	probably benign	Het
Elovl1	G	T	4: 118,288,832 (GRCm39)	V174L	probably damaging	Het
Elp3	T	C	14: 65,788,851 (GRCm39)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,574,985 (GRCm39)	W7L	probably damaging	Het
Fchsd2	A	G	7: 100,759,991 (GRCm39)	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,504,308 (GRCm39)	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,263,387 (GRCm39)	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Herc1	A	G	9: 66,372,717 (GRCm39)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,492,610 (GRCm39)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,812,145 (GRCm39)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,791,921 (GRCm39)	Q590*	probably null	Het
Lama1	G	T	17: 68,077,982 (GRCm39)	C1139F	probably damaging	Het
Med29	C	T	7: 28,086,239 (GRCm39)	A190T	probably benign	Het
Muc4	T	C	16: 32,569,600 (GRCm39)	V220A	probably benign	Het
Mxra8	G	T	4: 155,927,378 (GRCm39)	V388L	probably benign	Het
Myo5a	T	C	9: 75,051,463 (GRCm39)		probably null	Het
Nphp4	T	C	4: 152,590,942 (GRCm39)	V313A	probably benign	Het
Oga	A	C	19: 45,765,436 (GRCm39)	S124A	probably benign	Het
Olfm2	T	G	9: 20,579,840 (GRCm39)		probably null	Het
Or10ag52	T	A	2: 87,044,072 (GRCm39)	S279T	probably benign	Het
Or10x4	T	C	1: 174,218,941 (GRCm39)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,462,620 (GRCm39)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,841,443 (GRCm39)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,219,595 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,658,755 (GRCm39)	T159S	probably damaging	Het
Plk4	A	G	3: 40,768,021 (GRCm39)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,192,657 (GRCm39)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,343,064 (GRCm39)		probably null	Het
Pygb	T	C	2: 150,662,808 (GRCm39)		probably null	Het
Rnf114	T	C	2: 167,352,854 (GRCm39)	I118T	possibly damaging	Het
Sbno2	A	G	10: 79,894,287 (GRCm39)	L1099P	probably benign	Het
Scaper	T	C	9: 55,714,916 (GRCm39)	K791E	probably damaging	Het
Serping1	T	C	2: 84,601,889 (GRCm39)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,319,665 (GRCm39)	S617P	possibly damaging	Het
Slk	G	A	19: 47,624,896 (GRCm39)	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,655,535 (GRCm39)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Spred1	C	T	2: 116,983,486 (GRCm39)	R16*	probably null	Het
Srpk2	A	G	5: 23,723,475 (GRCm39)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,670,610 (GRCm39)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,095,215 (GRCm39)	L272H	probably damaging	Het
Syne2	T	A	12: 76,154,991 (GRCm39)		probably null	Het
Uso1	A	T	5: 92,346,196 (GRCm39)	E793V	possibly damaging	Het
Usp15	A	T	10: 122,966,892 (GRCm39)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,286,336 (GRCm39)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,763,938 (GRCm39)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,330,252 (GRCm39)	S537P	probably damaging	Het
Zbtb12	T	C	17: 35,114,859 (GRCm39)	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,260,915 (GRCm39)	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,512 (GRCm39)	D151G	probably null	Het

Other mutations in Myrip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01924:Myrip	APN	9	120,217,330 (GRCm39)	missense	probably damaging	1.00
IGL02108:Myrip	APN	9	120,296,631 (GRCm39)	critical splice donor site	probably null
IGL02406:Myrip	APN	9	120,296,598 (GRCm39)	missense	probably benign
IGL02876:Myrip	APN	9	120,261,740 (GRCm39)	missense	probably damaging	1.00
IGL03109:Myrip	APN	9	120,282,790 (GRCm39)	splice site	probably null
IGL03258:Myrip	APN	9	120,270,418 (GRCm39)	missense	probably benign	0.45
PIT4581001:Myrip	UTSW	9	120,296,583 (GRCm39)	missense	probably damaging	0.98
R0485:Myrip	UTSW	9	120,270,443 (GRCm39)	missense	probably benign	0.01
R0633:Myrip	UTSW	9	120,217,302 (GRCm39)	missense	probably damaging	1.00
R1489:Myrip	UTSW	9	120,261,595 (GRCm39)	missense	probably damaging	1.00
R1539:Myrip	UTSW	9	120,253,689 (GRCm39)	missense	probably benign	0.00
R1708:Myrip	UTSW	9	120,293,840 (GRCm39)	missense	possibly damaging	0.65
R1817:Myrip	UTSW	9	120,217,228 (GRCm39)	missense	probably damaging	1.00
R1818:Myrip	UTSW	9	120,217,228 (GRCm39)	missense	probably damaging	1.00
R1878:Myrip	UTSW	9	120,253,721 (GRCm39)	missense	probably damaging	0.99
R2484:Myrip	UTSW	9	120,253,685 (GRCm39)	missense	probably benign	0.00
R3237:Myrip	UTSW	9	120,270,473 (GRCm39)	missense	possibly damaging	0.91
R3890:Myrip	UTSW	9	120,251,324 (GRCm39)	missense	probably damaging	1.00
R3912:Myrip	UTSW	9	120,261,682 (GRCm39)	missense	probably benign
R3919:Myrip	UTSW	9	120,261,695 (GRCm39)	missense	probably damaging	1.00
R4125:Myrip	UTSW	9	120,293,764 (GRCm39)	nonsense	probably null
R4126:Myrip	UTSW	9	120,293,764 (GRCm39)	nonsense	probably null
R4128:Myrip	UTSW	9	120,293,764 (GRCm39)	nonsense	probably null
R4435:Myrip	UTSW	9	120,164,680 (GRCm39)	start gained	probably benign
R4599:Myrip	UTSW	9	120,293,850 (GRCm39)	missense	probably damaging	0.97
R5014:Myrip	UTSW	9	120,251,534 (GRCm39)	missense	probably damaging	1.00
R5814:Myrip	UTSW	9	120,253,734 (GRCm39)	missense	probably benign	0.06
R5849:Myrip	UTSW	9	120,282,759 (GRCm39)	missense	probably damaging	0.99
R5986:Myrip	UTSW	9	120,290,487 (GRCm39)	missense	probably damaging	1.00
R6706:Myrip	UTSW	9	120,217,359 (GRCm39)	missense	possibly damaging	0.93
R7019:Myrip	UTSW	9	120,251,573 (GRCm39)	missense	probably damaging	1.00
R7291:Myrip	UTSW	9	120,246,207 (GRCm39)	missense	probably damaging	0.97
R8204:Myrip	UTSW	9	120,262,045 (GRCm39)	critical splice donor site	probably null
R8557:Myrip	UTSW	9	120,246,252 (GRCm39)	missense	probably benign	0.32
R8853:Myrip	UTSW	9	120,290,487 (GRCm39)	missense	probably damaging	1.00
R8911:Myrip	UTSW	9	120,270,484 (GRCm39)	missense	possibly damaging	0.94
R9106:Myrip	UTSW	9	120,261,544 (GRCm39)	missense	probably benign	0.37
R9225:Myrip	UTSW	9	120,293,850 (GRCm39)	missense	probably damaging	0.97
Z1177:Myrip	UTSW	9	120,270,547 (GRCm39)	missense	probably damaging	1.00
Z1177:Myrip	UTSW	9	120,261,844 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGATGTCAGAGGCTTCCTGC -3'
(R):5'- CATCCTTGGTAGGCATCAATGAC -3'

Sequencing Primer
(F):5'- TGCCCCCATCCAAGTGTGAAG -3'
(R):5'- AAGTGGGAGCTACTATTGTAACCTG -3'

Posted On

2016-11-09