Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01070:Rfng'

52221

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfng

Ensembl Gene

ENSMUSG00000025158

Gene Name

RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms

radical fringe

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01070

Quality Score

Status

Chromosome

Chromosomal Location

120780746-120784207 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120783952 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 71 (N71D)

Ref Sequence

ENSEMBL: ENSMUSP00000026156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026156] [ENSMUST00000100134] [ENSMUST00000116305] [ENSMUST00000153678] [ENSMUST00000172809] [ENSMUST00000208737]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026156
AA Change: N71D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026156
Gene: ENSMUSG00000025158
AA Change: N71D

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Fringe	54	306	1.1e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100134

SMART Domains

Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156

Domain	Start	End	E-Value	Type
Pfam:RPN7	123	305	4.9e-78	PFAM
PINT	356	439	5.77e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116305

SMART Domains

Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156

Domain	Start	End	E-Value	Type
Pfam:RPN7	123	305	1.3e-77	PFAM
PINT	356	439	5.77e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144519

Predicted Effect

probably benign
Transcript: ENSMUST00000153678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156723

Predicted Effect

probably benign
Transcript: ENSMUST00000172809

SMART Domains

Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
low complexity region	37	49	N/A	INTRINSIC
Pfam:RPN7	162	344	8.8e-77	PFAM
PINT	395	478	5.77e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208737

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions of this gene display a completely normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adamts5	T	C	16: 85,863,133	H757R	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap3	A	T	6: 126,865,879	E487V	possibly damaging	Het
Bicd2	T	C	13: 49,378,316	S271P	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cma1	A	G	14: 55,942,697	S71P	probably benign	Het
Cspp1	T	C	1: 10,088,145	Y494H	probably damaging	Het
Cyp39a1	A	G	17: 43,683,022	K191R	probably benign	Het
Efr3a	G	A	15: 65,853,078	V507I	probably benign	Het
Fam178b	C	T	1: 36,564,403	R489Q	possibly damaging	Het
Kcnj4	A	G	15: 79,484,579	L400P	probably benign	Het
Kif27	A	G	13: 58,344,093	Y411H	probably damaging	Het
Mstn	A	T	1: 53,061,997	I78L	possibly damaging	Het
Nrap	T	C	19: 56,329,084	D1377G	probably damaging	Het
Pramel5	T	G	4: 144,271,272	Y467S	probably damaging	Het
Prkg1	G	A	19: 30,569,343		probably benign	Het
Rbfox1	A	C	16: 7,306,443	S219R	possibly damaging	Het
Rp1	T	C	1: 4,345,238	I1884V	probably damaging	Het
Rptn	T	A	3: 93,398,176	Y939N	possibly damaging	Het
Sart1	A	G	19: 5,383,951	V322A	probably benign	Het
Shank3	T	C	15: 89,549,416	S1455P	probably damaging	Het
Smc5	T	A	19: 23,231,601	R703W	possibly damaging	Het
Sptan1	G	A	2: 30,014,173		probably null	Het
Tecta	T	C	9: 42,395,003	D43G	probably damaging	Het
Tmem67	A	T	4: 12,054,750	M685K	probably benign	Het
Trac	A	G	14: 54,220,766	T82A	probably benign	Het
Trank1	A	G	9: 111,366,793	N1295S	probably damaging	Het
Ttc36	T	C	9: 44,801,590		probably null	Het
Utp18	A	T	11: 93,869,848	S384T	possibly damaging	Het
Vmn1r64	C	A	7: 5,883,942	A201S	probably benign	Het
Vmn2r26	A	T	6: 124,061,607	I714F	probably benign	Het
Vps54	T	A	11: 21,312,268	V626D	probably damaging	Het
Wapl	T	C	14: 34,745,622		probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het

Other mutations in Rfng

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Rfng	APN	11	120783921	missense	probably benign	0.01
IGL01748:Rfng	APN	11	120783743	missense	probably benign	0.00
R1533:Rfng	UTSW	11	120781861	nonsense	probably null
R2697:Rfng	UTSW	11	120784039	unclassified	probably benign
R4169:Rfng	UTSW	11	120783946	missense	probably benign	0.10
R4401:Rfng	UTSW	11	120782480	missense	possibly damaging	0.94
R4613:Rfng	UTSW	11	120782650	missense	probably damaging	1.00
R4738:Rfng	UTSW	11	120783964	missense	probably damaging	1.00
R5015:Rfng	UTSW	11	120783050	missense	probably damaging	0.98
R5703:Rfng	UTSW	11	120782016	missense	probably benign	0.40
R6191:Rfng	UTSW	11	120782690	missense	probably damaging	1.00

Posted On

2013-06-21