Mutagenetix > Incidental Mutation

Incidental Mutation 'R1533:Rufy4'

166706

Institutional Source

Beutler Lab

Gene Symbol

Rufy4

Ensembl Gene

ENSMUSG00000061815

Gene Name

RUN and FYVE domain containing 4

Synonyms

F930048N03Rik

MMRRC Submission

039572-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R1533 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74164700-74187382 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 74169002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080167] [ENSMUST00000127134]

AlphaFold

Q3TYX8

Predicted Effect

probably null
Transcript: ENSMUST00000080167

SMART Domains

Protein: ENSMUSP00000079062
Gene: ENSMUSG00000061815

Domain	Start	End	E-Value	Type
Pfam:RUN	2	81	1.5e-8	PFAM
coiled coil region	331	404	N/A	INTRINSIC
Blast:FYVE	415	472	2e-6	BLAST
SCOP:d1vfya_	428	473	4e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000127134

SMART Domains

Protein: ENSMUSP00000115873
Gene: ENSMUSG00000061815

Domain	Start	End	E-Value	Type
Pfam:RUN	41	165	6.2e-10	PFAM
coiled coil region	415	488	N/A	INTRINSIC
Blast:FYVE	499	556	2e-6	BLAST
SCOP:d1vfya_	512	557	3e-7	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,928,807 (GRCm39)	G1340A	probably benign	Het
Ambra1	T	A	2: 91,717,210 (GRCm39)	Y836N	probably damaging	Het
Arhgap26	A	T	18: 39,504,130 (GRCm39)	H144L	probably benign	Het
B3gnt5	A	G	16: 19,588,364 (GRCm39)	I194M	probably damaging	Het
Bltp1	G	T	3: 37,095,524 (GRCm39)	G4509V	probably damaging	Het
Bod1l	A	T	5: 41,979,498 (GRCm39)	C605*	probably null	Het
C2cd3	G	T	7: 100,055,284 (GRCm39)	K482N	possibly damaging	Het
Cd300lg	T	A	11: 101,934,047 (GRCm39)	L98Q	probably damaging	Het
Cerkl	T	A	2: 79,171,701 (GRCm39)	I386F	possibly damaging	Het
Cfh	T	A	1: 140,028,716 (GRCm39)	D466V	possibly damaging	Het
Crtc1	A	T	8: 70,850,949 (GRCm39)	I221N	probably damaging	Het
Ctnnbl1	T	C	2: 157,678,563 (GRCm39)	S389P	probably benign	Het
Ctsb	A	T	14: 63,376,544 (GRCm39)	D258V	probably damaging	Het
Cuzd1	G	T	7: 130,913,432 (GRCm39)	T395N	probably damaging	Het
Dnah6	T	C	6: 73,128,536 (GRCm39)	T1240A	probably benign	Het
Dok7	T	A	5: 35,221,671 (GRCm39)		probably null	Het
Dscaml1	T	C	9: 45,361,882 (GRCm39)	V214A	probably damaging	Het
Enpp6	A	T	8: 47,518,469 (GRCm39)	Y199F	probably benign	Het
Entpd5	C	A	12: 84,441,434 (GRCm39)	K111N	probably damaging	Het
Fam98a	A	G	17: 75,848,276 (GRCm39)	L146S	probably damaging	Het
Fhod3	A	T	18: 25,248,921 (GRCm39)	I1367F	probably damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Fpr3	T	A	17: 18,190,922 (GRCm39)	Y64*	probably null	Het
Fzd6	A	T	15: 38,895,019 (GRCm39)	H395L	probably damaging	Het
Gcsh	T	A	8: 117,715,921 (GRCm39)	H54L	probably damaging	Het
Gsdma	T	A	11: 98,567,210 (GRCm39)	S437T	unknown	Het
Gzmc	A	G	14: 56,471,376 (GRCm39)	V55A	probably damaging	Het
Hecw2	T	A	1: 53,965,704 (GRCm39)		probably null	Het
Ifi207	A	G	1: 173,555,306 (GRCm39)	V792A	probably benign	Het
Itpr3	C	A	17: 27,314,534 (GRCm39)	N661K	possibly damaging	Het
Jmy	A	T	13: 93,577,819 (GRCm39)	I783N	probably benign	Het
Kcmf1	T	C	6: 72,820,003 (GRCm39)	E281G	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lgr6	T	A	1: 135,032,670 (GRCm39)	Y70F	possibly damaging	Het
Lnx1	T	G	5: 74,780,678 (GRCm39)	D330A	probably damaging	Het
Lrp5	T	C	19: 3,664,234 (GRCm39)	N106S	probably benign	Het
Mamdc4	C	A	2: 25,459,759 (GRCm39)	R135L	possibly damaging	Het
Mcm3ap	A	G	10: 76,340,121 (GRCm39)	E1464G	probably damaging	Het
Megf8	T	C	7: 25,034,280 (GRCm39)	V666A	possibly damaging	Het
Mettl3	T	A	14: 52,534,385 (GRCm39)	E331D	probably benign	Het
Mphosph9	T	C	5: 124,405,204 (GRCm39)	K789R	probably damaging	Het
Mtf2	T	C	5: 108,239,995 (GRCm39)	L234P	probably damaging	Het
Ncdn	C	A	4: 126,642,491 (GRCm39)	E389*	probably null	Het
Ndor1	A	G	2: 25,139,279 (GRCm39)	S231P	probably damaging	Het
Nelfa	T	G	5: 34,056,215 (GRCm39)	K483Q	probably damaging	Het
Odad1	T	A	7: 45,592,282 (GRCm39)	M354K	probably benign	Het
Opn1sw	C	T	6: 29,378,923 (GRCm39)	R243Q	probably benign	Het
Or13a24	T	A	7: 140,155,034 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,792 (GRCm39)	N284S	probably damaging	Het
Pik3cd	T	C	4: 149,739,653 (GRCm39)	E584G	probably damaging	Het
Plcb3	A	T	19: 6,935,041 (GRCm39)	M870K	possibly damaging	Het
Poc5	A	G	13: 96,528,152 (GRCm39)	D16G	probably damaging	Het
Prpf40a	A	G	2: 53,035,852 (GRCm39)	I633T	probably damaging	Het
Ptpn13	G	T	5: 103,704,044 (GRCm39)	E1359*	probably null	Het
Ptprr	C	A	10: 116,024,113 (GRCm39)	Y4*	probably null	Het
Rbm45	T	C	2: 76,202,503 (GRCm39)		probably null	Het
Rfng	C	T	11: 120,672,687 (GRCm39)	W320*	probably null	Het
Rgs6	G	T	12: 83,138,547 (GRCm39)	V294L	probably benign	Het
Ruvbl2	T	A	7: 45,073,566 (GRCm39)	N313I	probably damaging	Het
Sema4g	G	A	19: 44,981,256 (GRCm39)	V70M	probably damaging	Het
Siglec1	T	C	2: 130,918,078 (GRCm39)	T969A	probably benign	Het
Slc22a27	T	A	19: 7,844,348 (GRCm39)	T431S	possibly damaging	Het
Slc25a16	G	A	10: 62,756,643 (GRCm39)	R38H	probably damaging	Het
Slc38a6	T	C	12: 73,391,626 (GRCm39)	V296A	probably benign	Het
Slc39a11	C	T	11: 113,196,748 (GRCm39)	V212I	probably damaging	Het
Sltm	A	G	9: 70,493,948 (GRCm39)	K782E	probably damaging	Het
Styxl1	T	A	5: 135,799,175 (GRCm39)	Y23F	probably damaging	Het
Svs4	T	C	2: 164,120,148 (GRCm39)	I20V	unknown	Het
Syt14	G	T	1: 192,613,084 (GRCm39)	T572K	possibly damaging	Het
Tbc1d5	A	T	17: 51,227,603 (GRCm39)	I214N	possibly damaging	Het
Tm9sf3	A	G	19: 41,227,223 (GRCm39)	S283P	probably benign	Het
Tmtc1	C	T	6: 148,147,208 (GRCm39)		probably null	Het
Ttll7	T	A	3: 146,602,422 (GRCm39)	N73K	probably damaging	Het
Ttn	T	A	2: 76,602,802 (GRCm39)	K18473N	probably damaging	Het
Ubr2	A	C	17: 47,278,173 (GRCm39)	Y721*	probably null	Het
Vmn1r14	T	A	6: 57,211,286 (GRCm39)	I288N	probably damaging	Het
Vmn2r103	T	C	17: 19,993,662 (GRCm39)	I13T	probably benign	Het
Vps13a	A	T	19: 16,678,494 (GRCm39)	Y1162*	probably null	Het
Vps51	C	A	19: 6,121,497 (GRCm39)	R175L	probably benign	Het
Zfp523	C	A	17: 28,423,473 (GRCm39)	S149R	probably benign	Het
Zik1	A	G	7: 10,224,053 (GRCm39)	I348T	possibly damaging	Het
Znfx1	T	A	2: 166,898,708 (GRCm39)	H72L	probably benign	Het

Other mutations in Rufy4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01617:Rufy4	APN	1	74,168,513 (GRCm39)	missense	probably damaging	1.00
IGL02075:Rufy4	APN	1	74,168,518 (GRCm39)	missense	probably damaging	1.00
IGL02604:Rufy4	APN	1	74,173,348 (GRCm39)	missense	probably damaging	1.00
IGL02606:Rufy4	APN	1	74,172,509 (GRCm39)	splice site	probably benign
IGL02928:Rufy4	APN	1	74,168,241 (GRCm39)	unclassified	probably benign
R0091:Rufy4	UTSW	1	74,168,095 (GRCm39)	unclassified	probably benign
R0507:Rufy4	UTSW	1	74,185,875 (GRCm39)	missense	probably benign	0.02
R0589:Rufy4	UTSW	1	74,172,042 (GRCm39)	missense	probably damaging	1.00
R0595:Rufy4	UTSW	1	74,180,089 (GRCm39)	missense	possibly damaging	0.94
R0742:Rufy4	UTSW	1	74,185,875 (GRCm39)	missense	probably benign	0.02
R1666:Rufy4	UTSW	1	74,186,837 (GRCm39)	missense	probably benign	0.06
R1668:Rufy4	UTSW	1	74,186,837 (GRCm39)	missense	probably benign	0.06
R1827:Rufy4	UTSW	1	74,173,279 (GRCm39)	missense	probably damaging	1.00
R2018:Rufy4	UTSW	1	74,180,106 (GRCm39)	missense	possibly damaging	0.49
R2095:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R2306:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R2307:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R2472:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R2475:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3022:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3054:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3055:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3056:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3117:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3118:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3236:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3237:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3545:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3546:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3547:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3548:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3767:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3768:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3770:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3816:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3817:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3818:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3819:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R3895:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4050:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4091:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4117:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4124:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4125:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4127:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4231:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4233:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4234:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4236:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4254:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4255:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4319:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4320:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4321:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4321:Rufy4	UTSW	1	74,171,943 (GRCm39)	missense	possibly damaging	0.93
R4322:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4323:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4324:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4360:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4361:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4406:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4408:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4516:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4517:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4520:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4522:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4524:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4531:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4533:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4617:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4661:Rufy4	UTSW	1	74,172,266 (GRCm39)	missense	probably damaging	0.99
R4778:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4779:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4840:Rufy4	UTSW	1	74,168,198 (GRCm39)	missense	possibly damaging	0.82
R4897:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4898:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4899:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4915:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4917:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4918:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R4997:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5092:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5097:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5189:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5191:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5195:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5196:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5197:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5226:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5227:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5228:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5230:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5372:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5373:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5374:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5375:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5376:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5377:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5378:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5699:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5748:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5750:Rufy4	UTSW	1	74,172,068 (GRCm39)	missense	probably benign	0.01
R5767:Rufy4	UTSW	1	74,186,822 (GRCm39)	missense	probably damaging	0.99
R5865:Rufy4	UTSW	1	74,185,914 (GRCm39)	missense	probably damaging	0.99
R6083:Rufy4	UTSW	1	74,168,556 (GRCm39)	missense	probably damaging	0.99
R6149:Rufy4	UTSW	1	74,186,892 (GRCm39)	missense	probably benign	0.15
R6279:Rufy4	UTSW	1	74,172,383 (GRCm39)	missense	probably benign	0.00
R6300:Rufy4	UTSW	1	74,172,383 (GRCm39)	missense	probably benign	0.00
R6629:Rufy4	UTSW	1	74,171,526 (GRCm39)	splice site	probably null
R6809:Rufy4	UTSW	1	74,172,206 (GRCm39)	missense	probably benign	0.00
R7179:Rufy4	UTSW	1	74,172,035 (GRCm39)	missense	probably benign	0.12
R7218:Rufy4	UTSW	1	74,172,174 (GRCm39)	missense	probably damaging	0.99
R7453:Rufy4	UTSW	1	74,168,493 (GRCm39)	splice site	probably null
R9377:Rufy4	UTSW	1	74,171,879 (GRCm39)	missense	probably benign	0.08
X0023:Rufy4	UTSW	1	74,180,208 (GRCm39)	missense	probably benign	0.04
X0025:Rufy4	UTSW	1	74,172,178 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTCGTGCCTTTATCCGACTCTG -3'
(R):5'- gtctgtctgtctgtgtgtATCTCGC -3'

Sequencing Primer
(F):5'- TACGCTGATTCTCAGAGGTCAAG -3'
(R):5'- gtgtgtATCTCGCAAAAAAaaaaaag -3'

Posted On

2014-04-13