Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02606:Rufy4'

300305

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rufy4

Ensembl Gene

ENSMUSG00000061815

Gene Name

RUN and FYVE domain containing 4

Synonyms

F930048N03Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02606

Quality Score

Status

Chromosome

Chromosomal Location

74164700-74187382 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 74172509 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 benign
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 benign
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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,099,978 (GRCm39)	N74I	probably benign	Het
Abr	T	C	11: 76,369,990 (GRCm39)	K75R	probably damaging	Het
Adcy10	A	C	1: 165,347,087 (GRCm39)	D368A	possibly damaging	Het
Alas1	A	G	9: 106,118,309 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,576,949 (GRCm39)	D168E	probably benign	Het
Ankar	C	T	1: 72,729,444 (GRCm39)	A82T	possibly damaging	Het
Atp2c2	C	T	8: 120,457,013 (GRCm39)	T205I	probably benign	Het
Atp9a	A	T	2: 168,494,588 (GRCm39)	L639Q	probably damaging	Het
Btf3l4	T	C	4: 108,675,411 (GRCm39)	D134G	probably benign	Het
Cacna1s	T	C	1: 136,007,257 (GRCm39)	C425R	probably damaging	Het
Cct6b	G	T	11: 82,627,271 (GRCm39)	T322N	probably damaging	Het
Col19a1	G	A	1: 24,573,197 (GRCm39)	R192*	probably null	Het
Cyp8b1	A	T	9: 121,744,801 (GRCm39)	F177Y	probably damaging	Het
Dnajc11	T	A	4: 152,063,941 (GRCm39)	N474K	probably benign	Het
Dusp16	T	C	6: 134,737,999 (GRCm39)	E13G	probably damaging	Het
Ephx2	T	C	14: 66,323,741 (GRCm39)	N397S	probably damaging	Het
Fancm	T	C	12: 65,122,913 (GRCm39)	V145A	possibly damaging	Het
Fiz1	A	G	7: 5,012,158 (GRCm39)	L120P	possibly damaging	Het
Galnt6	C	T	15: 100,612,100 (GRCm39)	V181M	probably damaging	Het
Ginm1	A	G	10: 7,646,163 (GRCm39)	V279A	probably damaging	Het
Gja10	T	G	4: 32,601,509 (GRCm39)	I292L	probably benign	Het
Gnb3	T	C	6: 124,814,378 (GRCm39)	S136G	probably benign	Het
Gramd1a	A	T	7: 30,833,940 (GRCm39)	V495E	probably damaging	Het
Il1rn	G	T	2: 24,235,462 (GRCm39)		probably benign	Het
Itpr3	A	G	17: 27,333,486 (GRCm39)		probably benign	Het
Kctd1	A	G	18: 15,195,937 (GRCm39)	S229P	possibly damaging	Het
Kdm4a	T	C	4: 118,017,486 (GRCm39)	T527A	probably benign	Het
Kif14	C	T	1: 136,424,331 (GRCm39)	A982V	probably damaging	Het
Klf6	A	G	13: 5,916,734 (GRCm39)	K293R	probably damaging	Het
Letmd1	A	G	15: 100,372,972 (GRCm39)	D92G	probably damaging	Het
Lmod1	G	A	1: 135,292,218 (GRCm39)	V358M	probably benign	Het
Ndufs1	A	T	1: 63,199,011 (GRCm39)	D295E	probably damaging	Het
Nek4	A	G	14: 30,685,916 (GRCm39)	N283S	probably benign	Het
Nhsl1	A	G	10: 18,387,385 (GRCm39)	T220A	probably damaging	Het
Nucks1	T	A	1: 131,852,363 (GRCm39)	D71E	probably damaging	Het
Or4n4	T	C	14: 50,519,530 (GRCm39)	Y60C	probably damaging	Het
Or8g18	C	A	9: 39,149,490 (GRCm39)	V77F	probably damaging	Het
Pkhd1l1	A	G	15: 44,452,852 (GRCm39)	T3926A	probably benign	Het
Pptc7	T	A	5: 122,451,651 (GRCm39)		probably benign	Het
Prdm11	A	G	2: 92,805,948 (GRCm39)	V334A	probably benign	Het
Ptdss2	C	A	7: 140,732,911 (GRCm39)	C231*	probably null	Het
R3hdm1	C	T	1: 128,118,456 (GRCm39)	P570S	probably benign	Het
Rlbp1	T	C	7: 79,027,037 (GRCm39)	T208A	possibly damaging	Het
Rnaseh2a	T	G	8: 85,686,723 (GRCm39)	D142A	probably damaging	Het
Tektl1	A	G	10: 78,584,300 (GRCm39)	Y372H	probably benign	Het
Tlcd4	G	T	3: 121,022,013 (GRCm39)	D128E	possibly damaging	Het
Ttn	A	G	2: 76,646,565 (GRCm39)	I11081T	possibly damaging	Het
Ubap2l	A	T	3: 89,945,735 (GRCm39)	S173R	probably damaging	Het
Vmn1r80	A	G	7: 11,926,959 (GRCm39)	N23S	probably damaging	Het
Vwce	C	A	19: 10,632,712 (GRCm39)		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
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
R1533:Rufy4	UTSW	1	74,169,002 (GRCm39)	critical splice donor site	probably null
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

Posted On

2015-04-16