Mutagenetix > Incidental Mutation

Incidental Mutation 'R4321:Rufy4'

323800

Institutional Source

Beutler Lab

Gene Symbol

Rufy4

Ensembl Gene

ENSMUSG00000061815

Gene Name

RUN and FYVE domain containing 4

Synonyms

F930048N03Rik

MMRRC Submission

041662-MU

Accession Numbers

Essential gene?

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

Stock #

R4321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74164700-74187382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74171943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 222 (D222V)

Ref Sequence

ENSEMBL: ENSMUSP00000115873 (fasta)

Gene Model

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

AlphaFold

Q3TYX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080167
AA Change: D138V

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079062
Gene: ENSMUSG00000061815
AA Change: D138V

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

possibly damaging
Transcript: ENSMUST00000127134
AA Change: D222V

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115873
Gene: ENSMUSG00000061815
AA Change: D222V

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

0.1251

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (56/59)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,887 (GRCm39)	D420V	probably damaging	Het
Als2	A	C	1: 59,206,613 (GRCm39)		probably benign	Het
Ankrd9	A	G	12: 110,943,074 (GRCm39)	L287P	probably damaging	Het
Aoc1l1	T	A	6: 48,953,456 (GRCm39)	D460E	probably damaging	Het
Bbof1	A	T	12: 84,473,902 (GRCm39)	R411*	probably null	Het
Camta2	A	T	11: 70,569,151 (GRCm39)	L598Q	probably damaging	Het
Ccdc178	T	A	18: 22,166,600 (GRCm39)	K530*	probably null	Het
Cep85	G	A	4: 133,859,596 (GRCm39)	T689I	probably damaging	Het
Clvs1	T	C	4: 9,282,029 (GRCm39)		probably benign	Het
Cpped1	T	C	16: 11,705,610 (GRCm39)	T65A	probably benign	Het
Daxx	T	C	17: 34,130,380 (GRCm39)	Y132H	possibly damaging	Het
Dock7	T	C	4: 98,960,691 (GRCm39)	E279G	probably damaging	Het
Dok7	A	T	5: 35,237,141 (GRCm39)		probably benign	Het
Dthd1	A	T	5: 62,976,033 (GRCm39)	I236F	probably damaging	Het
Egf	A	G	3: 129,499,783 (GRCm39)	C285R	probably damaging	Het
Epha4	T	A	1: 77,483,850 (GRCm39)		probably null	Het
Fbxw13	A	C	9: 109,010,503 (GRCm39)	I378M	probably benign	Het
Gaa	A	T	11: 119,160,963 (GRCm39)	N2I	probably benign	Het
Gad1	G	A	2: 70,420,174 (GRCm39)	D353N	probably damaging	Het
Ggcx	A	G	6: 72,405,803 (GRCm39)	S545G	probably benign	Het
Gm2663	G	T	6: 40,974,530 (GRCm39)	Q87K	probably damaging	Het
Golga4	A	G	9: 118,385,503 (GRCm39)	E847G	probably damaging	Het
Hipk3	C	A	2: 104,276,916 (GRCm39)	V388L	probably damaging	Het
Ibtk	T	C	9: 85,617,125 (GRCm39)	D149G	possibly damaging	Het
Ice1	A	T	13: 70,751,229 (GRCm39)	V1619E	possibly damaging	Het
Itpr3	A	G	17: 27,330,948 (GRCm39)	E1752G	probably benign	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kprp	G	A	3: 92,732,163 (GRCm39)	R296W	probably damaging	Het
Lama1	G	A	17: 68,078,078 (GRCm39)	G1171D	probably benign	Het
Lonp2	A	G	8: 87,392,356 (GRCm39)	H474R	probably damaging	Het
Mark1	G	T	1: 184,630,871 (GRCm39)	D746E	possibly damaging	Het
Mlxipl	C	T	5: 135,164,304 (GRCm39)	Q167*	probably null	Het
Myo3a	A	T	2: 22,271,966 (GRCm39)	N162Y	probably damaging	Het
Myo5a	T	G	9: 75,124,812 (GRCm39)	V1787G	probably damaging	Het
Myorg	C	T	4: 41,498,767 (GRCm39)	V288I	probably benign	Het
Nrxn3	A	T	12: 90,166,005 (GRCm39)	E227V	probably damaging	Het
Orc1	G	A	4: 108,445,973 (GRCm39)	M30I	probably benign	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Rufy2	A	G	10: 62,818,459 (GRCm39)	D5G	probably damaging	Het
Septin1	G	A	7: 126,816,200 (GRCm39)	P77S	probably damaging	Het
Slamf1	T	C	1: 171,602,694 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,179,798 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,679,429 (GRCm39)	I636K	possibly damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Txnl1	T	C	18: 63,812,561 (GRCm39)	T78A	possibly damaging	Het
Ulk4	T	G	9: 120,903,062 (GRCm39)	R1138S	probably benign	Het
Vamp8	A	C	6: 72,362,536 (GRCm39)	V88G	possibly damaging	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Zfp850	A	C	7: 27,688,825 (GRCm39)	F461C	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
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'- TATGGAGTGCTGGCTGAGAC -3'
(R):5'- CTGTTGAGTTTTCCAGGAATTTCC -3'

Sequencing Primer
(F):5'- GCTCTGACAATTTTCCCAGTAGG -3'
(R):5'- AATTTCCTGGGCTTTGGGC -3'

Posted On

2015-06-24