Mutagenetix > Incidental Mutation

Incidental Mutation 'R2306:Rufy4'

244577

Institutional Source

Beutler Lab

Gene Symbol

Rufy4

Ensembl Gene

ENSMUSG00000061815

Gene Name

RUN and FYVE domain containing 4

Synonyms

F930048N03Rik

MMRRC Submission

040305-MU

Accession Numbers

Essential gene?

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

Stock #

R2306 (G1)

Quality Score

225

Status

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: 99.5%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	G	A	17: 43,024,010 (GRCm39)	H154Y	possibly damaging	Het
Arhgef7	T	A	8: 11,862,680 (GRCm39)	Y501*	probably null	Het
Atmin	T	C	8: 117,684,389 (GRCm39)	F683S	probably benign	Het
Bcat1	A	G	6: 144,953,379 (GRCm39)	V403A	probably damaging	Het
C4b	T	G	17: 34,947,492 (GRCm39)	M1729L	probably benign	Het
Cdh23	A	G	10: 60,159,224 (GRCm39)	S2185P	probably damaging	Het
Crispld2	T	G	8: 120,752,810 (GRCm39)	V286G	probably damaging	Het
Ctsw	T	C	19: 5,517,010 (GRCm39)		probably null	Het
Dnai1	T	C	4: 41,625,239 (GRCm39)	V401A	probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Ifitm2	T	A	7: 140,535,702 (GRCm39)	T43S	probably damaging	Het
Mark1	A	T	1: 184,633,058 (GRCm39)		probably benign	Het
Mme	A	G	3: 63,207,673 (GRCm39)	I40V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nfatc2	A	C	2: 168,432,023 (GRCm39)	F30C	probably damaging	Het
Npr2	T	A	4: 43,633,609 (GRCm39)	V251D	probably damaging	Het
Pax8	T	A	2: 24,333,057 (GRCm39)	Y96F	probably damaging	Het
Ppp1r13b	T	C	12: 111,811,327 (GRCm39)	E187G	probably damaging	Het
Rbp3	A	T	14: 33,684,520 (GRCm39)	D1183V	probably damaging	Het
Reln	T	G	5: 22,101,784 (GRCm39)	D3382A	probably damaging	Het
Rfc3	A	G	5: 151,567,243 (GRCm39)	L271P	probably damaging	Het
Sdk1	C	T	5: 141,948,455 (GRCm39)	A600V	probably benign	Het
Sfr1	T	C	19: 47,723,291 (GRCm39)	I265T	probably damaging	Het
Syt13	G	A	2: 92,771,312 (GRCm39)	R133H	probably benign	Het
Tmem231	A	T	8: 112,645,503 (GRCm39)	V132D	probably damaging	Het
Tmem247	C	A	17: 87,225,869 (GRCm39)	A103E	probably benign	Het
Unc119b	A	T	5: 115,263,534 (GRCm39)	Y223*	probably null	Het
Vmn1r196	T	A	13: 22,477,473 (GRCm39)	F37L	probably benign	Het
Vps13c	T	A	9: 67,895,275 (GRCm39)	Y3627N	probably damaging	Het
Zfp292	C	A	4: 34,809,468 (GRCm39)	S1192I	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
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

Predicted Primers

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

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

Posted On

2014-10-30