Mutagenetix > Incidental Mutation

Incidental Mutation 'R8557:Myrip'

660165

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 #

R8557 (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 120417186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 127 (S127G)

Ref Sequence

ENSEMBL: ENSMUSP00000122046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048121] [ENSMUST00000133173]

AlphaFold

Q8K3I4

Predicted Effect

probably benign
Transcript: ENSMUST00000048121
AA Change: S127G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: S127G

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

probably benign
Transcript: ENSMUST00000133173
AA Change: S127G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122046
Gene: ENSMUSG00000041794
AA Change: S127G

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	8	125	2.1e-44	PFAM
Pfam:Rab_eff_C	152	210	5.4e-34	PFAM

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 63,898,611	V230A	probably benign	Het
Ablim2	A	T	5: 35,828,139	H260L	probably damaging	Het
Acp4	C	T	7: 44,255,848		probably null	Het
Acvr2b	G	T	9: 119,432,588	V416L	probably damaging	Het
Adipoq	A	T	16: 23,146,680		probably benign	Het
Amhr2	A	G	15: 102,454,412	Q538R	probably benign	Het
Apoh	C	T	11: 108,409,236	T237I	probably damaging	Het
Aspm	C	T	1: 139,456,756	T97I	probably benign	Het
Atg16l2	A	T	7: 101,290,656	H499Q	probably benign	Het
Bicdl2	G	A	17: 23,667,562	R375H	probably benign	Het
C3	T	C	17: 57,224,383	T304A	probably benign	Het
Cast	A	T	13: 74,704,182	D647E	probably damaging	Het
Chrm2	T	C	6: 36,524,075	V289A	probably benign	Het
Clock	T	C	5: 76,229,370	D694G	probably damaging	Het
Cyp4a31	C	T	4: 115,570,241	R215C	possibly damaging	Het
Dctn2	T	C	10: 127,278,193	L334P	probably damaging	Het
Dnah11	A	G	12: 117,878,512	I4444T	probably benign	Het
Egf	C	A	3: 129,754,951	R5L	unknown	Het
Ercc1	A	G	7: 19,348,555	N11S	probably benign	Het
Eri3	T	C	4: 117,615,323	S113P	possibly damaging	Het
Fam159a	T	A	4: 108,367,888	N159I	probably benign	Het
Fasn	A	G	11: 120,815,784	V958A	probably benign	Het
Fgf10	A	G	13: 118,781,596	K140R	probably benign	Het
Gfra2	G	A	14: 70,977,297	M163I	probably benign	Het
Gm14403	T	C	2: 177,509,561	I191T	probably damaging	Het
Hdlbp	T	A	1: 93,413,497	E977D	probably damaging	Het
Hectd4	A	G	5: 121,310,651	N354S	possibly damaging	Het
Hpgds	A	T	6: 65,120,015	I170N	probably benign	Het
Limk2	A	G	11: 3,346,379	V356A	possibly damaging	Het
Map4	A	G	9: 110,064,302		probably null	Het
Mettl13	C	T	1: 162,544,352	G316D	possibly damaging	Het
Mia2	T	A	12: 59,101,488	L45I	probably damaging	Het
Mier1	T	A	4: 103,139,346		probably null	Het
Mob3a	G	T	10: 80,691,174	R106S	probably benign	Het
Mug2	T	A	6: 122,063,701	F737I	probably damaging	Het
Myo7a	C	T	7: 98,053,874	A2053T	probably benign	Het
Naaladl2	T	A	3: 24,208,364	K395I	probably benign	Het
Nedd4l	A	T	18: 65,203,915	M678L	probably benign	Het
Nefh	A	T	11: 4,941,233	I462N	probably damaging	Het
Nfe2	A	G	15: 103,248,598	M322T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr30	T	A	11: 58,455,736	D71V	probably damaging	Het
Olfr657	T	A	7: 104,635,896	V74E	possibly damaging	Het
Pkdcc	A	G	17: 83,221,066	N288S	probably benign	Het
Sacs	G	A	14: 61,207,276	C2257Y	probably damaging	Het
Sec23a	G	T	12: 59,005,270	Q90K	probably damaging	Het
Slc30a6	A	G	17: 74,405,690	T61A	possibly damaging	Het
Slc39a11	C	A	11: 113,250,559	A234S	probably damaging	Het
Smg6	C	A	11: 75,156,238	N1252K	probably damaging	Het
Spata2	A	T	2: 167,484,307	D197E	probably damaging	Het
Spen	C	T	4: 141,470,370	A3396T	probably benign	Het
Spocd1	T	C	4: 129,948,968	F59L	probably damaging	Het
Tectb	T	A	19: 55,192,673		probably benign	Het
Tnnc1	G	A	14: 31,210,605	V82I	probably damaging	Het
Traf7	A	T	17: 24,510,041	V513D	probably damaging	Het
Vmn2r111	A	T	17: 22,571,929	Y129*	probably null	Het
Vrtn	T	A	12: 84,649,916	F480Y	probably benign	Het
Vwa8	A	T	14: 79,009,209	I664F	probably damaging	Het
Vwde	A	T	6: 13,193,137	V401E	probably damaging	Het
Zcchc11	T	A	4: 108,542,711		probably null	Het
Zfp655	A	T	5: 145,244,025	N231I	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
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'- TGACAGATAGAAGGCTCCCC -3'
(R):5'- GCTGAGTTAAAACCCGACACTC -3'

Sequencing Primer
(F):5'- CCAAAGTATCCAAAGTTTCTGGCG -3'
(R):5'- GACAAGTTTCTCTGTCTCTATGAAG -3'

Posted On

2021-01-18