Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:Rufy2'

318924

Institutional Source

Beutler Lab

Gene Symbol

Rufy2

Ensembl Gene

ENSMUSG00000020070

Gene Name

RUN and FYVE domain-containing 2

Synonyms

2610111M19Rik, LZ-FYVE, ZFYVE13, Denn

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62980223-63017210 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 63004772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 441 (Q441*)

Ref Sequence

ENSEMBL: ENSMUSP00000113429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062600] [ENSMUST00000119567] [ENSMUST00000122231] [ENSMUST00000131718] [ENSMUST00000143594]

AlphaFold

Q8R4C2

Predicted Effect

probably benign
Transcript: ENSMUST00000062600

SMART Domains

Protein: ENSMUSP00000059982
Gene: ENSMUSG00000020070

Domain	Start	End	E-Value	Type
RUN	105	167	3.02e-22	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000119567
AA Change: Q441*

SMART Domains

Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
AA Change: Q441*

Domain	Start	End	E-Value	Type
RUN	105	167	3.02e-22	SMART
coiled coil region	210	268	N/A	INTRINSIC
coiled coil region	326	515	N/A	INTRINSIC
FYVE	532	599	6.99e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122231

SMART Domains

Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070

Domain	Start	End	E-Value	Type
Pfam:RUN	45	100	6.2e-9	PFAM
low complexity region	110	123	N/A	INTRINSIC
coiled coil region	176	234	N/A	INTRINSIC
coiled coil region	292	372	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131718

SMART Domains

Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070

Domain	Start	End	E-Value	Type
RUN	105	167	3.02e-22	SMART
coiled coil region	210	268	N/A	INTRINSIC
coiled coil region	326	406	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143594

SMART Domains

Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070

Domain	Start	End	E-Value	Type
RUN	105	167	3.02e-22	SMART
coiled coil region	210	268	N/A	INTRINSIC
coiled coil region	326	406	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143726

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,473,515	K81R	probably benign	Het
Acacb	T	C	5: 114,213,651	F1150L	probably benign	Het
Acat3	A	G	17: 12,927,386	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,322,668	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Cabin1	T	C	10: 75,754,841	S23G	possibly damaging	Het
Clasp1	A	G	1: 118,578,906	N949S	probably damaging	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dgka	A	T	10: 128,721,195	L637Q	probably damaging	Het
Dst	G	A	1: 34,212,247	R1801H	probably damaging	Het
Edil3	T	C	13: 89,180,278	S284P	probably damaging	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Ell2	A	G	13: 75,761,948	D139G	probably damaging	Het
Fam187a	A	G	11: 102,886,212	R281G	probably damaging	Het
Gin1	A	G	1: 97,792,420	D380G	possibly damaging	Het
Gpr149	T	G	3: 62,604,503	D25A	possibly damaging	Het
Gyg	A	G	3: 20,152,737	S90P	probably benign	Het
Hpx	C	T	7: 105,595,147	M190I	probably null	Het
Irf2bpl	C	T	12: 86,883,036	V288I	probably benign	Het
Lyst	A	G	13: 13,635,989	H748R	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mpdz	A	T	4: 81,381,762	M333K	probably benign	Het
Muc5ac	C	T	7: 141,817,110	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Ntsr1	A	G	2: 180,500,752	D112G	probably damaging	Het
Olfr1410	A	C	1: 92,608,595	T253P	possibly damaging	Het
Olfr657	T	A	7: 104,636,149	N158K	possibly damaging	Het
Olfr8	T	C	10: 78,955,283	F26S	probably benign	Het
Parg	A	G	14: 32,254,536	K178R	probably benign	Het
Pde8b	C	A	13: 95,222,545	C90F	probably benign	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Rad54l2	A	C	9: 106,717,795	V321G	probably damaging	Het
Rcn2	A	G	9: 56,045,207	Y112C	possibly damaging	Het
Rnf123	A	T	9: 108,063,963	D639E	probably benign	Het
Scgb2b12	T	C	7: 32,326,638	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,319,501		probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,608,233	S321P	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tex2	A	G	11: 106,567,572		probably benign	Het
Tmem2	G	T	19: 21,842,115	R1090L	probably damaging	Het
Trip13	A	G	13: 73,932,890	I119T	probably benign	Het
Tsku	C	T	7: 98,352,998	R42H	probably damaging	Het
Ttn	A	G	2: 76,772,567	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565	V142A	probably damaging	Het
Uggt2	C	T	14: 119,049,262	D221N	probably damaging	Het
Wnt4	A	G	4: 137,296,343	K207R	possibly damaging	Het
Zfp608	T	C	18: 54,988,195	R107G	probably damaging	Het

Other mutations in Rufy2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Rufy2	APN	10	62991054	missense	probably damaging	0.98
IGL01516:Rufy2	APN	10	63011433	missense	possibly damaging	0.82
IGL02811:Rufy2	APN	10	63000327	missense	probably damaging	1.00
IGL03244:Rufy2	APN	10	63004704	missense	probably benign	0.08
PIT4434001:Rufy2	UTSW	10	62991066	missense	possibly damaging	0.60
R0071:Rufy2	UTSW	10	62989167	missense	possibly damaging	0.95
R0448:Rufy2	UTSW	10	63004736	missense	probably benign
R0496:Rufy2	UTSW	10	62993170	missense	probably damaging	1.00
R0723:Rufy2	UTSW	10	62998094	missense	probably benign	0.43
R0731:Rufy2	UTSW	10	63011844	critical splice donor site	probably benign
R1236:Rufy2	UTSW	10	62994770	missense	probably benign	0.36
R1414:Rufy2	UTSW	10	63002199	nonsense	probably null
R1600:Rufy2	UTSW	10	63006671	missense	probably benign	0.00
R1626:Rufy2	UTSW	10	62995372	missense	probably benign	0.43
R2035:Rufy2	UTSW	10	63006747	missense	probably damaging	0.99
R2141:Rufy2	UTSW	10	62990994	missense	probably damaging	1.00
R2962:Rufy2	UTSW	10	63000260	missense	probably damaging	0.96
R3874:Rufy2	UTSW	10	62998137	missense	probably damaging	1.00
R4321:Rufy2	UTSW	10	62982680	missense	probably damaging	1.00
R4878:Rufy2	UTSW	10	63002211	missense	probably damaging	1.00
R5636:Rufy2	UTSW	10	62997954	missense	probably damaging	1.00
R7382:Rufy2	UTSW	10	62997969	missense	probably benign	0.04
R7714:Rufy2	UTSW	10	63002993	missense	probably benign	0.01
R8278:Rufy2	UTSW	10	63007693	missense	probably benign	0.27
R8777:Rufy2	UTSW	10	62997881	missense	possibly damaging	0.86
R8777-TAIL:Rufy2	UTSW	10	62997881	missense	possibly damaging	0.86
R9181:Rufy2	UTSW	10	63000387	missense	possibly damaging	0.94
R9756:Rufy2	UTSW	10	62982740	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCCTAGTTCTAGCCTCAG -3'
(R):5'- GGCTCAGCAGTTACGAGATACAC -3'

Sequencing Primer
(F):5'- AGCCTCAGTTTTACCCAAAGTTG -3'
(R):5'- CTTAAGCCAGGCATGATGGTACTC -3'

Posted On

2015-06-10