Mutagenetix > Incidental Mutation

Incidental Mutation 'R5196:Rufy4'

400192

Institutional Source

Beutler Lab

Gene Symbol

Rufy4

Ensembl Gene

ENSMUSG00000061815

Gene Name

RUN and FYVE domain containing 4

Synonyms

MMRRC Submission

042772-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R5196 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74125541-74148223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74147663 bp (GRCm38)

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,796,438	T281A	possibly damaging	Het
4930503B20Rik	A	G	3: 146,646,263		probably benign	Het
6330409D20Rik	T	A	2: 32,740,540		probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Amigo2	A	G	15: 97,246,061	F160S	probably damaging	Het
Arcn1	A	T	9: 44,760,027	L68M	probably damaging	Het
Arhgef25	A	G	10: 127,185,109	S303P	probably damaging	Het
Asph	A	T	4: 9,607,830	S163T	probably damaging	Het
BC003331	T	A	1: 150,382,389	D165V	probably damaging	Het
Birc6	T	C	17: 74,606,141		probably benign	Het
Ccm2	G	A	11: 6,561,181		probably benign	Het
Cdc42bpa	T	C	1: 180,072,413	V431A	probably benign	Het
Cdh7	T	A	1: 110,138,000	M668K	probably damaging	Het
Cfap43	A	T	19: 47,825,925	W157R	probably damaging	Het
Chrm5	T	C	2: 112,480,384	Y129C	probably damaging	Het
Chrna5	A	G	9: 55,006,519	I421V	possibly damaging	Het
Clk1	T	A	1: 58,414,613	T301S	probably benign	Het
Col6a3	G	T	1: 90,816,538		probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fam198a	T	G	9: 121,965,661	S294A	probably benign	Het
Fbxw19	T	C	9: 109,484,428	Y234C	probably benign	Het
Fgd4	T	A	16: 16,484,142	N183I	probably benign	Het
Fnip2	T	C	3: 79,572,538		probably benign	Het
Gm9847	T	A	12: 14,495,015		noncoding transcript	Het
H2-T23	A	G	17: 36,032,607		probably null	Het
Hdlbp	T	C	1: 93,420,193	E613G	probably damaging	Het
Kat6a	G	A	8: 22,911,713	R366H	probably damaging	Het
Kctd4	A	G	14: 75,962,687	T33A	probably benign	Het
Klrb1c	T	A	6: 128,780,299	S268C	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrrfip1	A	G	1: 91,114,608	E245G	probably damaging	Het
Mast3	A	T	8: 70,788,245	I220N	probably damaging	Het
Mfap3	A	G	11: 57,529,813	T207A	probably damaging	Het
Mtdh	G	T	15: 34,118,004	K75N	probably damaging	Het
Mybpc1	A	G	10: 88,536,351	Y806H	probably damaging	Het
Ntng1	T	C	3: 109,934,983	D158G	probably damaging	Het
Olfr1176	A	G	2: 88,339,748	Y61C	possibly damaging	Het
Olfr812	T	A	10: 129,842,781	D87V	possibly damaging	Het
Pask	A	G	1: 93,310,083		probably benign	Het
Pif1	G	T	9: 65,588,092	A95S	probably benign	Het
Plppr2	T	C	9: 21,941,132	F104S	probably damaging	Het
Prmt9	G	A	8: 77,564,997	V333M	probably benign	Het
Pten	A	T	19: 32,815,497	M239L	probably benign	Het
Rb1cc1	A	G	1: 6,234,230	D67G	probably damaging	Het
Reg2	T	A	6: 78,405,547	L12*	probably null	Het
Slc5a7	C	A	17: 54,281,722		probably null	Het
Tcaf3	G	T	6: 42,593,715	R368S	probably benign	Het
Tfcp2	A	G	15: 100,520,714	V189A	probably damaging	Het
Uhrf1bp1	A	G	17: 27,856,763	I5V	probably benign	Het
Wdr12	T	C	1: 60,087,084	S191G	probably damaging	Het
Zfp536	G	A	7: 37,480,760	R807W	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het

Other mutations in Rufy4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01617:Rufy4	APN	1	74129354	missense	probably damaging	1.00
IGL02075:Rufy4	APN	1	74129359	missense	probably damaging	1.00
IGL02604:Rufy4	APN	1	74134189	missense	probably damaging	1.00
IGL02606:Rufy4	APN	1	74133350	splice site	probably benign
IGL02928:Rufy4	APN	1	74129082	unclassified	probably benign
R0091:Rufy4	UTSW	1	74128936	unclassified	probably benign
R0507:Rufy4	UTSW	1	74146716	missense	probably benign	0.02
R0589:Rufy4	UTSW	1	74132883	missense	probably damaging	1.00
R0595:Rufy4	UTSW	1	74140930	missense	possibly damaging	0.94
R0742:Rufy4	UTSW	1	74146716	missense	probably benign	0.02
R1533:Rufy4	UTSW	1	74129843	critical splice donor site	probably null
R1666:Rufy4	UTSW	1	74147678	missense	probably benign	0.06
R1668:Rufy4	UTSW	1	74147678	missense	probably benign	0.06
R1827:Rufy4	UTSW	1	74134120	missense	probably damaging	1.00
R2018:Rufy4	UTSW	1	74140947	missense	possibly damaging	0.49
R2095:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R2306:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R2307:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R2472:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R2475:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3022:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3054:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3055:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3056:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3117:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3118:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3236:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3237:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3545:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3546:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3547:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3548:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3767:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3768:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3770:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3816:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3817:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3818:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3819:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R3895:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4050:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4091:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4117:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4124:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4125:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4127:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4231:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4233:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4234:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4236:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4254:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4255:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4319:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4320:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4321:Rufy4	UTSW	1	74132784	missense	possibly damaging	0.93
R4321:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4322:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4323:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4324:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4360:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4361:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4406:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4408:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4516:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4517:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4520:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4522:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4524:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4531:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4533:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4617:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4661:Rufy4	UTSW	1	74133107	missense	probably damaging	0.99
R4778:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4779:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4840:Rufy4	UTSW	1	74129039	missense	possibly damaging	0.82
R4897:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4898:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4899:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4915:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4917:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4918:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R4997:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5092:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5097:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5189:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5191:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5195:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5197:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5226:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5227:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5228:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5230:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5372:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5373:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5374:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5375:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5376:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5377:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5378:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5699:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5748:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5750:Rufy4	UTSW	1	74132909	missense	probably benign	0.01
R5767:Rufy4	UTSW	1	74147663	missense	probably damaging	0.99
R5865:Rufy4	UTSW	1	74146755	missense	probably damaging	0.99
R6083:Rufy4	UTSW	1	74129397	missense	probably damaging	0.99
R6149:Rufy4	UTSW	1	74147733	missense	probably benign	0.15
R6279:Rufy4	UTSW	1	74133224	missense	probably benign	0.00
R6300:Rufy4	UTSW	1	74133224	missense	probably benign	0.00
R6629:Rufy4	UTSW	1	74132367	splice site	probably null
R6809:Rufy4	UTSW	1	74133047	missense	probably benign	0.00
R7179:Rufy4	UTSW	1	74132876	missense	probably benign	0.12
R7218:Rufy4	UTSW	1	74133015	missense	probably damaging	0.99
R7453:Rufy4	UTSW	1	74129334	splice site	probably null
R9377:Rufy4	UTSW	1	74132720	missense	probably benign	0.08
X0023:Rufy4	UTSW	1	74141049	missense	probably benign	0.04
X0025:Rufy4	UTSW	1	74133019	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCCATCAGGAGAAGCTGC -3'
(R):5'- AGCTAGGCCTATCTGTGGAC -3'

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

Posted On

2016-07-06