Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02282:Rfwd3'

289894

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfwd3

Ensembl Gene

ENSMUSG00000033596

Gene Name

ring finger and WD repeat domain 3

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

IGL02282

Quality Score

Status

Chromosome

Chromosomal Location

111270944-111300222 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 111293982 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038739]

Predicted Effect

probably benign
Transcript: ENSMUST00000038739

SMART Domains

Protein: ENSMUSP00000043780
Gene: ENSMUSG00000033596

Domain	Start	End	E-Value	Type
low complexity region	222	243	N/A	INTRINSIC
RING	288	331	3.78e-5	SMART
coiled coil region	355	403	N/A	INTRINSIC
WD40	486	526	1.38e-2	SMART
WD40	529	568	6.43e-3	SMART
Blast:WD40	683	730	2e-12	BLAST
Blast:WD40	733	772	4e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212958

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male fertility (possibly infertility), gonad atrophy, oligospermia, failure of follicular development, increased cellular sensitivity to MMC treatment, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	C	T	11: 78,284,228	P1730S	probably benign	Het
Ahnak	A	G	19: 9,005,987	D1545G	probably damaging	Het
AI481877	A	C	4: 59,111,114	Y53D	unknown	Het
Baiap3	A	C	17: 25,249,377	D234E	probably benign	Het
Cand1	T	A	10: 119,210,709	T959S	probably benign	Het
Ctdspl2	A	G	2: 121,977,478		probably benign	Het
Cyp2a4	A	C	7: 26,309,047	M205L	probably benign	Het
Dlx5	G	A	6: 6,881,762	A42V	probably damaging	Het
Dnah7a	A	G	1: 53,643,510	I267T	possibly damaging	Het
Dnajb6	A	G	5: 29,752,418	D66G	probably damaging	Het
Fgf8	T	C	19: 45,737,090	H201R	possibly damaging	Het
Gpc1	A	G	1: 92,857,967	K460E	probably damaging	Het
Gzme	A	T	14: 56,118,369	L162Q	probably damaging	Het
Ik	G	A	18: 36,745,644	G17D	probably damaging	Het
Il4	G	A	11: 53,618,174	T59M	probably damaging	Het
Kcnh3	G	T	15: 99,228,043		probably null	Het
Mill1	G	T	7: 18,263,204		probably null	Het
Npbwr1	A	T	1: 5,916,965	M110K	possibly damaging	Het
Olfr1490	T	A	19: 13,655,258	D276E	probably damaging	Het
Olfr849	A	G	9: 19,441,618	Y235C	probably benign	Het
Olfr881	A	T	9: 37,993,022	I177F	probably damaging	Het
Opalin	A	T	19: 41,066,504	S84T	probably benign	Het
Pcdhb11	T	C	18: 37,423,828	L737P	probably damaging	Het
Phip	G	A	9: 82,913,690	S626L	probably benign	Het
Ppl	T	C	16: 5,101,458	D435G	probably damaging	Het
Prss37	A	G	6: 40,515,383	V178A	possibly damaging	Het
Ptpn7	A	G	1: 135,134,834	I104V	probably damaging	Het
Ptprn	A	G	1: 75,253,156	Y700H	probably damaging	Het
Rab11fip5	T	A	6: 85,337,552	T555S	probably damaging	Het
Robo1	G	A	16: 72,742,138	R41H	probably damaging	Het
Rps3	A	G	7: 99,479,272		probably null	Het
Ruvbl2	G	A	7: 45,425,165	T183I	probably benign	Het
Sema4c	A	T	1: 36,550,203		probably null	Het
Taar8b	T	A	10: 24,091,555	K247I	possibly damaging	Het
Tacr3	A	T	3: 134,861,073	I236F	probably benign	Het
Ttc21b	A	G	2: 66,191,737	I1168T	probably damaging	Het
Ttc9b	A	T	7: 27,655,911	D202V	probably damaging	Het
Vmn2r26	T	G	6: 124,061,625	C720G	probably damaging	Het
Vmn2r37	A	G	7: 9,206,762	S584P	probably benign	Het
Wnk2	T	A	13: 49,068,125	D1208V	probably damaging	Het
Zfp988	T	A	4: 147,331,668	C186*	probably null	Het
Zp3	A	G	5: 135,984,351	N179S	possibly damaging	Het

Other mutations in Rfwd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02160:Rfwd3	APN	8	111273075	missense	possibly damaging	0.53
IGL02193:Rfwd3	APN	8	111273015	utr 3 prime	probably benign
IGL02903:Rfwd3	APN	8	111278229	missense	probably benign	0.00
PIT4468001:Rfwd3	UTSW	8	111282720	missense	probably benign	0.19
R0254:Rfwd3	UTSW	8	111294023	missense	probably benign
R0279:Rfwd3	UTSW	8	111282733	missense	probably benign	0.00
R0531:Rfwd3	UTSW	8	111293989	critical splice donor site	probably null
R1137:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1164:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1168:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1191:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1192:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1258:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1259:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1260:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1261:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1439:Rfwd3	UTSW	8	111278288	missense	probably damaging	1.00
R1579:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1580:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1581:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1727:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1763:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1774:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R1785:Rfwd3	UTSW	8	111297402	missense	probably benign	0.05
R1786:Rfwd3	UTSW	8	111297402	missense	probably benign	0.05
R2059:Rfwd3	UTSW	8	111297495	missense	probably benign	0.20
R2130:Rfwd3	UTSW	8	111297402	missense	probably benign	0.05
R2132:Rfwd3	UTSW	8	111297402	missense	probably benign	0.05
R2133:Rfwd3	UTSW	8	111297402	missense	probably benign	0.05
R2145:Rfwd3	UTSW	8	111282613	missense	probably benign
R2174:Rfwd3	UTSW	8	111283343	missense	probably damaging	0.98
R3897:Rfwd3	UTSW	8	111288242	missense	probably damaging	0.99
R4625:Rfwd3	UTSW	8	111276358	missense	probably benign	0.01
R5121:Rfwd3	UTSW	8	111282753	splice site	probably null
R5480:Rfwd3	UTSW	8	111273832	missense	probably damaging	0.96
R5781:Rfwd3	UTSW	8	111273084	missense	probably benign	0.02
R7417:Rfwd3	UTSW	8	111273069	missense	probably benign	0.03
R7510:Rfwd3	UTSW	8	111280027	missense	probably damaging	0.99
Z1088:Rfwd3	UTSW	8	111297606	missense	probably benign

Posted On

2015-04-16