Mutagenetix > Incidental Mutation

Incidental Mutation 'R0496:Rufy2'

43945

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

038692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62980223-63017210 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62993170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 117 (V117A)

Ref Sequence

ENSEMBL: ENSMUSP00000113754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062600] [ENSMUST00000119567] [ENSMUST00000122231] [ENSMUST00000131718] [ENSMUST00000143594] [ENSMUST00000156302]

AlphaFold

Q8R4C2

Predicted Effect

probably benign
Transcript: ENSMUST00000062600
AA Change: V151A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000059982
Gene: ENSMUSG00000020070
AA Change: V151A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119567
AA Change: V151A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
AA Change: V151A

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 damaging
Transcript: ENSMUST00000122231
AA Change: V117A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070
AA Change: V117A

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
AA Change: V151A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070
AA Change: V151A

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
AA Change: V151A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
AA Change: V151A

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: ENSMUST00000148259

Predicted Effect

probably benign
Transcript: ENSMUST00000156302

SMART Domains

Protein: ENSMUSP00000116938
Gene: ENSMUSG00000020070

Domain	Start	End	E-Value	Type
PDB:2DWK\|A	1	59	2e-31	PDB

Meta Mutation Damage Score

0.0780

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

98% (99/101)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,244	K1065E	probably damaging	Het
4932438A13Rik	A	G	3: 36,987,635	T2721A	probably damaging	Het
4933402N03Rik	T	C	7: 131,146,131	N44S	probably benign	Het
Abca13	A	G	11: 9,291,701	D1188G	probably benign	Het
Abcb11	C	T	2: 69,277,884		probably benign	Het
Abcc8	A	T	7: 46,108,820	I1274N	probably damaging	Het
Adamtsl1	G	A	4: 86,341,198	C827Y	probably damaging	Het
Agap3	T	A	5: 24,501,243	V369E	probably damaging	Het
Ankrd13b	G	A	11: 77,473,041	R195C	probably damaging	Het
Ap3b1	A	G	13: 94,472,938		probably benign	Het
Arhgef40	A	T	14: 52,004,907		probably benign	Het
Atad5	A	G	11: 80,100,356	I692V	probably benign	Het
Atp5b	G	T	10: 128,086,174	R310L	possibly damaging	Het
AY358078	A	T	14: 51,803,532	M103L	unknown	Het
Bcl9l	T	G	9: 44,509,518	V1370G	probably benign	Het
Bglap3	T	A	3: 88,369,137	Q38L	probably damaging	Het
Cd38	T	C	5: 43,868,891	F6L	probably damaging	Het
Cela3a	A	C	4: 137,404,468	V138G	probably damaging	Het
Clvs1	T	A	4: 9,424,241	I229N	probably damaging	Het
Cpne1	G	A	2: 156,079,419	H16Y	probably damaging	Het
Ctc1	T	C	11: 69,035,507	L1069P	probably damaging	Het
Ctgf	G	T	10: 24,597,515	M317I	possibly damaging	Het
Dgkd	G	A	1: 87,936,900	S996N	probably null	Het
Dnah9	A	T	11: 66,075,135	M1685K	probably null	Het
Dnajb12	C	T	10: 59,879,801	R42*	probably null	Het
Dock5	T	C	14: 67,817,518	Q633R	probably damaging	Het
Dync2h1	A	G	9: 7,155,180	M868T	probably benign	Het
Enpp1	G	T	10: 24,672,052	H208Q	probably benign	Het
Epha7	T	A	4: 28,821,292	D152E	probably damaging	Het
Fancd2	T	C	6: 113,555,130		probably benign	Het
Gart	G	A	16: 91,623,037		probably benign	Het
Gm10964	A	T	3: 103,739,429		probably null	Het
Gm7075	G	T	10: 63,421,602	C46*	probably null	Het
Gpbar1	T	C	1: 74,278,981	F128L	probably benign	Het
Gsx2	T	A	5: 75,077,065	M226K	probably benign	Het
Gucd1	T	C	10: 75,511,266	D50G	possibly damaging	Het
Has1	A	G	17: 17,843,746	Y544H	probably benign	Het
Hc	A	T	2: 35,013,571	Y1024N	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Ift122	T	A	6: 115,905,902	H659Q	probably benign	Het
Itga2	T	C	13: 114,853,899	Q902R	probably benign	Het
Itgb2l	T	C	16: 96,434,701	K181E	possibly damaging	Het
Jak3	A	T	8: 71,682,397	H558L	probably damaging	Het
Kcnh8	A	G	17: 52,725,858	T58A	probably benign	Het
Klhl6	GT	G	16: 19,956,966	279	probably null	Het
Krt33a	C	T	11: 100,012,329		probably benign	Het
Magi2	A	T	5: 20,661,359		probably benign	Het
Map4	G	A	9: 110,039,850		probably benign	Het
Map4k4	T	A	1: 40,006,822	S754T	probably damaging	Het
Mapk8ip3	A	G	17: 24,914,450		probably benign	Het
Mib1	A	G	18: 10,804,773	S918G	probably benign	Het
Mipol1	T	A	12: 57,457,177	V377D	probably damaging	Het
Mlh1	T	C	9: 111,241,556	T364A	probably benign	Het
Mta1	C	T	12: 113,131,321	Q400*	probably null	Het
Mthfd1l	C	G	10: 4,090,006	R806G	probably benign	Het
Myh13	C	A	11: 67,348,815	N730K	probably damaging	Het
Myom1	A	G	17: 71,084,306	K937E	probably damaging	Het
Naxd	T	C	8: 11,510,224		probably benign	Het
Negr1	G	T	3: 157,016,267	K159N	probably damaging	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1170	A	T	2: 88,224,155	Y292*	probably null	Het
Olfr137	A	G	17: 38,304,658	S268P	probably damaging	Het
Olfr397	T	C	11: 73,964,880	S91P	probably benign	Het
Olfr584	T	C	7: 103,085,590	I19T	probably damaging	Het
Olfr620	C	T	7: 103,611,997	A119T	probably benign	Het
Pcsk6	G	A	7: 65,927,249	S58N	probably benign	Het
Pdzrn3	G	A	6: 101,150,570	T1045I	possibly damaging	Het
Pitrm1	T	C	13: 6,568,714	L641P	probably damaging	Het
Pkd1l1	G	T	11: 8,929,430	H474N	probably damaging	Het
Pltp	A	G	2: 164,852,461		probably benign	Het
Qtrt1	C	T	9: 21,419,548	T324M	probably benign	Het
Racgap1	A	T	15: 99,639,832		probably benign	Het
Rhbg	A	G	3: 88,254,498	V50A	probably benign	Het
Rnf135	G	A	11: 80,183,950	V12M	probably damaging	Het
Safb	A	G	17: 56,605,630	M866V	probably benign	Het
Slc35c2	G	T	2: 165,280,815	T183K	probably damaging	Het
Slc39a7	A	G	17: 34,029,538	L377P	probably damaging	Het
Slit1	G	A	19: 41,608,311		probably benign	Het
Spaca9	G	A	2: 28,693,010	H133Y	probably damaging	Het
Spout1	A	G	2: 30,174,971	F339S	probably benign	Het
St6gal2	A	G	17: 55,482,014	I16M	probably damaging	Het
Stat2	T	C	10: 128,276,509	M6T	probably benign	Het
Swt1	T	A	1: 151,411,270	H157L	probably benign	Het
Syne2	A	G	12: 76,038,940	N147D	possibly damaging	Het
Tmem2	A	T	19: 21,797,345	N117I	possibly damaging	Het
Tmem222	A	T	4: 133,277,591	M45K	possibly damaging	Het
Tmem30a	T	A	9: 79,777,285	H95L	probably damaging	Het
Tns3	A	C	11: 8,547,262		probably benign	Het
Trpm3	A	G	19: 22,698,778	I103V	probably benign	Het
Ube2n	T	C	10: 95,541,344	F57S	probably benign	Het
Vil1	T	C	1: 74,421,340	S219P	possibly damaging	Het
Wdfy4	A	G	14: 33,140,738		probably benign	Het
Wdr7	T	C	18: 63,791,843	S966P	probably benign	Het
Wnt8a	A	G	18: 34,544,847	N103D	probably damaging	Het
Zfp523	G	A	17: 28,200,445	E186K	possibly damaging	Het
Zfp791	A	T	8: 85,109,980	D418E	probably benign	Het
Zscan20	A	G	4: 128,591,889	V192A	probably benign	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
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
R4206:Rufy2	UTSW	10	63004772	nonsense	probably null
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'- ATCGAGCCTTTTCCCAGGTTAAGTG -3'
(R):5'- GCCCATAGTTGAATCCAGTCTGCC -3'

Sequencing Primer
(F):5'- CCCAGGTTAAGTGTTGAGAATGTC -3'
(R):5'- ccccatagactcgtgtattttacc -3'

Posted On

2013-05-29