Mutagenetix > Incidental Mutation

Incidental Mutation 'R5377:Rufy4'

425590

Institutional Source

Beutler Lab

Gene Symbol

Rufy4

Ensembl Gene

ENSMUSG00000061815

Gene Name

RUN and FYVE domain containing 4

Synonyms

MMRRC Submission

042845-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R5377 (G1)

Quality Score

225

Status

Not 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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,645,253	V372F	probably benign	Het
Adcy10	G	A	1: 165,519,895	C393Y	probably damaging	Het
Adgrg7	A	C	16: 56,730,306	I681S	possibly damaging	Het
Akap8l	T	C	17: 32,321,511		probably benign	Het
Akr1a1	A	T	4: 116,639,895	V156E	probably damaging	Het
Alk	T	G	17: 71,895,739	D1167A	probably damaging	Het
Ankrd11	T	C	8: 122,893,714		probably null	Het
Aspm	T	A	1: 139,457,483	N288K	probably damaging	Het
Aspm	A	G	1: 139,470,395		probably null	Het
Asxl2	G	A	12: 3,474,618		probably null	Het
Atp6v0a1	A	G	11: 101,055,587	H802R	probably damaging	Het
B4galnt1	A	G	10: 127,171,822	T531A	possibly damaging	Het
Ccdc114	C	T	7: 45,942,082	R257*	probably null	Het
Cecr2	A	G	6: 120,756,569	N506D	possibly damaging	Het
Crebrf	T	C	17: 26,759,865	V509A	probably damaging	Het
Cyp4f40	A	T	17: 32,675,616	I413F	probably null	Het
Defb12	C	A	8: 19,114,326		probably null	Het
Dnah2	T	C	11: 69,421,848	E4297G	probably damaging	Het
Dpysl5	A	T	5: 30,791,513	N371Y	probably damaging	Het
Eef1d	G	T	15: 75,903,189	T207N	probably benign	Het
Esrrb	C	T	12: 86,519,009	Q416*	probably null	Het
Exd2	T	C	12: 80,489,448	L284P	probably damaging	Het
Fat3	T	A	9: 16,376,443	I595F	probably benign	Het
Gm9920	A	G	15: 55,108,975		probably benign	Het
Hephl1	T	C	9: 15,069,788	K783E	probably damaging	Het
Irs2	A	G	8: 11,005,277	S1052P	probably benign	Het
Kctd18	T	C	1: 57,963,093	I192V	probably benign	Het
Lama3	A	G	18: 12,453,746	D722G	probably damaging	Het
Lepr	T	C	4: 101,815,019	V1080A	possibly damaging	Het
Lpin1	C	T	12: 16,563,655	G504S	probably damaging	Het
Lrit2	A	C	14: 37,069,183	Q273P	possibly damaging	Het
Mgea5	A	T	19: 45,758,022	Y779*	probably null	Het
Mlkl	T	A	8: 111,327,937	E189D	probably benign	Het
Mttp	C	T	3: 138,105,029	R608H	probably benign	Het
Nav2	T	C	7: 49,589,160	V2011A	probably benign	Het
Nos2	A	T	11: 78,957,491	I1075F	probably benign	Het
Npat	A	G	9: 53,550,036		probably null	Het
Nucks1	T	C	1: 131,919,033	F16L	probably damaging	Het
Nus1	T	C	10: 52,429,213	S150P	possibly damaging	Het
Olfr1230	G	T	2: 89,297,162	T36K	probably damaging	Het
Olfr881	A	T	9: 37,992,612	Y40F	probably benign	Het
Pclo	A	G	5: 14,681,353	T3290A	unknown	Het
Pign	A	T	1: 105,657,812	F4Y	probably benign	Het
Rfx4	A	G	10: 84,860,542	N233D	possibly damaging	Het
Rpgrip1	A	T	14: 52,160,195	M1325L	possibly damaging	Het
Scaf11	T	A	15: 96,417,120	H1227L	possibly damaging	Het
Sec31b	G	T	19: 44,518,637	P840T	probably damaging	Het
Slc16a9	T	A	10: 70,283,128	L426I	probably damaging	Het
Slc17a2	T	C	13: 23,812,592	S27P	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Tacc1	A	G	8: 25,182,283	S310P	possibly damaging	Het
Tmem245	G	A	4: 56,947,084	R110C	probably damaging	Het
Trip12	T	C	1: 84,757,431	Y953C	probably damaging	Het
Trpm7	C	A	2: 126,842,855		probably null	Het
Ush2a	G	A	1: 188,912,123	V4561I	probably benign	Het
Vmn1r192	C	T	13: 22,187,631	V140I	probably benign	Het
Vmn2r66	A	T	7: 85,006,818	I330N	probably damaging	Het
Vmn2r99	T	C	17: 19,379,269	V405A	probably damaging	Het
Wdhd1	A	C	14: 47,272,221	V172G	probably benign	Het
Zfhx3	C	T	8: 108,951,185	R2956C	possibly damaging	Het
Zfp446	T	C	7: 12,982,251	L283P	possibly damaging	Het
Zfp82	T	C	7: 30,057,166	K164E	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
R5196: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
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'- CAAGCCATCAGGAGAAGCTG -3'
(R):5'- AGCTAGGCCTATCTGTGGACTG -3'

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

Posted On

2016-08-04