Mutagenetix > Incidental Mutation

Incidental Mutation 'R5699:Rufy4'

446537

Institutional Source

Beutler Lab

Gene Symbol

Rufy4

Ensembl Gene

ENSMUSG00000061815

Gene Name

RUN and FYVE domain containing 4

Synonyms

F930048N03Rik

MMRRC Submission

043327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R5699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74164700-74187382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74186822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 537 (C537R)

Ref Sequence

ENSEMBL: ENSMUSP00000115873 (fasta)

Gene Model

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

AlphaFold

Q3TYX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000080167
AA Change: C453R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079062
Gene: ENSMUSG00000061815
AA Change: C453R

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 damaging
Transcript: ENSMUST00000127134
AA Change: C537R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115873
Gene: ENSMUSG00000061815
AA Change: C537R

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

Meta Mutation Damage Score

0.8605

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,225,320 (GRCm39)		noncoding transcript	Het
4930486L24Rik	A	G	13: 61,001,410 (GRCm39)	F106L	possibly damaging	Het
Adam11	A	T	11: 102,664,466 (GRCm39)	M385L	probably benign	Het
Adgre1	C	T	17: 57,788,007 (GRCm39)	P925S	probably benign	Het
Adh7	G	A	3: 137,932,087 (GRCm39)	A234T	probably benign	Het
Ano2	A	G	6: 125,849,703 (GRCm39)	E475G	probably damaging	Het
C2cd4c	A	G	10: 79,448,385 (GRCm39)	V254A	probably benign	Het
Car13	A	G	3: 14,715,749 (GRCm39)	Y89C	probably damaging	Het
Cd38	A	G	5: 44,057,728 (GRCm39)	K100R	probably damaging	Het
Cdh11	A	G	8: 103,361,175 (GRCm39)	I721T	probably damaging	Het
Cdh2	G	A	18: 16,779,579 (GRCm39)	Q161*	probably null	Het
Clk1	T	C	1: 58,459,354 (GRCm39)	K135R	probably damaging	Het
Col5a1	G	A	2: 27,887,611 (GRCm39)	G961R	unknown	Het
Cpt1b	T	A	15: 89,308,476 (GRCm39)	I151F	probably benign	Het
Cyp51	A	G	5: 4,151,213 (GRCm39)	F139L	probably damaging	Het
Disp1	TTGA	T	1: 182,870,119 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,029,298 (GRCm39)	I4089T	probably benign	Het
Dnali1	C	T	4: 124,952,843 (GRCm39)	V227M	possibly damaging	Het
Eml4	T	G	17: 83,717,514 (GRCm39)	S29A	probably benign	Het
Eps8l3	C	A	3: 107,786,895 (GRCm39)	P24T	probably benign	Het
Fancc	A	T	13: 63,478,446 (GRCm39)		probably null	Het
Firrm	A	T	1: 163,785,120 (GRCm39)	V753D	probably benign	Het
Grid2	G	A	6: 63,885,975 (GRCm39)	A124T	probably damaging	Het
Ikbke	C	T	1: 131,204,204 (GRCm39)		probably null	Het
Kyat1	G	A	2: 30,076,662 (GRCm39)	A284V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmbrd2	G	T	15: 9,175,269 (GRCm39)	L393F	probably benign	Het
Lrrc26	T	A	2: 25,180,536 (GRCm39)	L179Q	probably damaging	Het
Mlx	A	G	11: 100,979,520 (GRCm39)	D113G	possibly damaging	Het
Myod1	A	G	7: 46,026,407 (GRCm39)	K104R	probably damaging	Het
Nwd1	G	A	8: 73,429,602 (GRCm39)		probably null	Het
Or56b2j	T	G	7: 104,353,200 (GRCm39)	V142G	probably damaging	Het
Or5b118	A	G	19: 13,448,336 (GRCm39)	M1V	probably null	Het
Or6c3	A	C	10: 129,308,746 (GRCm39)	N62H	probably damaging	Het
Pacsin3	A	T	2: 91,093,126 (GRCm39)	Y206F	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,970 (GRCm39)	V255E	probably damaging	Het
Pdp1	T	C	4: 11,960,907 (GRCm39)	D468G	possibly damaging	Het
Pgr	C	T	9: 8,900,600 (GRCm39)		probably benign	Het
Prrt2	T	A	7: 126,617,899 (GRCm39)	Y345F	probably benign	Het
Rbbp8nl	T	C	2: 179,920,461 (GRCm39)	T515A	probably damaging	Het
Rc3h1	G	T	1: 160,757,823 (GRCm39)	R47L	probably damaging	Het
Rfpl4b	T	A	10: 38,697,281 (GRCm39)	I107F	possibly damaging	Het
Rsbn1	T	C	3: 103,869,801 (GRCm39)	F754S	probably benign	Het
Scn3a	T	C	2: 65,337,608 (GRCm39)	T630A	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slco1a5	C	A	6: 142,194,542 (GRCm39)	C367F	probably damaging	Het
Slit1	A	G	19: 41,613,959 (GRCm39)		probably null	Het
Slit2	G	A	5: 48,378,333 (GRCm39)		probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Stk16	T	A	1: 75,190,248 (GRCm39)	M111K	probably damaging	Het
Tbc1d2	T	C	4: 46,616,298 (GRCm39)	I477V	probably benign	Het
Tll1	T	A	8: 64,570,974 (GRCm39)	E199D	probably damaging	Het
Trhde	A	T	10: 114,424,407 (GRCm39)	D459E	probably benign	Het
Ttn	T	C	2: 76,541,881 (GRCm39)	R25375G	possibly damaging	Het
Tubgcp2	A	T	7: 139,578,701 (GRCm39)	M757K	possibly damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ubqln5	A	G	7: 103,778,632 (GRCm39)	V64A	possibly damaging	Het
Usp47	A	G	7: 111,709,204 (GRCm39)	M1337V	probably benign	Het
Vmn1r201	T	A	13: 22,659,409 (GRCm39)	Y208N	probably damaging	Het
Xkr8	C	T	4: 132,455,368 (GRCm39)	R335H	probably damaging	Het
Zbtb49	A	T	5: 38,373,870 (GRCm39)	C25S	probably damaging	Het
Zeb2	T	A	2: 44,887,800 (GRCm39)	N404I	probably damaging	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
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
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'- CAAGCCATCAGGAGAAGCTG -3'
(R):5'- AGCTAGGCCTATCTGTGGACTG -3'

Sequencing Primer
(F):5'- GGAGAAGCTGCCACCTCAATTAG -3'
(R):5'- TGGACTGCCAGCTGTTCC -3'

Posted On

2016-11-21