Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02572:Rusf1'

299071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rusf1

Ensembl Gene

ENSMUSG00000030780

Gene Name

RUS family member 1

Synonyms

BC017158

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02572

Quality Score

Status

Chromosome

Chromosomal Location

127870551-127897303 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 127889752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033044] [ENSMUST00000126263] [ENSMUST00000137677]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033044

SMART Domains

Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780

Domain	Start	End	E-Value	Type
Pfam:DUF647	62	301	5.6e-97	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124216

Predicted Effect

probably benign
Transcript: ENSMUST00000126263

SMART Domains

Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780

Domain	Start	End	E-Value	Type
Pfam:DUF647	61	304	3e-102	PFAM
low complexity region	334	347	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137677

SMART Domains

Protein: ENSMUSP00000117520
Gene: ENSMUSG00000030780

Domain	Start	End	E-Value	Type
Pfam:DUF647	1	64	4.6e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175474

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	C	1: 85,652,892 (GRCm39)	N92S	probably damaging	Het
Abca2	T	C	2: 25,323,329 (GRCm39)	L99P	possibly damaging	Het
Adam19	T	A	11: 46,022,548 (GRCm39)	Y500*	probably null	Het
Amy1	A	T	3: 113,358,722 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,197,526 (GRCm39)	I624T	probably damaging	Het
Atad3a	C	T	4: 155,838,041 (GRCm39)	D244N	possibly damaging	Het
Atp5mf	C	A	5: 145,124,047 (GRCm39)		probably benign	Het
Bbof1	G	A	12: 84,475,139 (GRCm39)	D443N	probably damaging	Het
Bod1l	G	A	5: 41,978,573 (GRCm39)	Q914*	probably null	Het
C330011M18Rik	A	G	8: 84,793,208 (GRCm39)		probably benign	Het
Cgref1	A	G	5: 31,090,911 (GRCm39)	V301A	probably benign	Het
Coa6	T	C	8: 127,149,480 (GRCm39)	Y19H	probably damaging	Het
Cop1	T	A	1: 159,136,448 (GRCm39)		probably benign	Het
Dmrta1	T	C	4: 89,579,795 (GRCm39)	S252P	probably benign	Het
Dnaaf5	T	G	5: 139,170,384 (GRCm39)	S484A	probably benign	Het
Dspp	A	T	5: 104,324,935 (GRCm39)	S433C	probably damaging	Het
Efcab5	G	A	11: 77,028,714 (GRCm39)	R206*	probably null	Het
Epop	A	T	11: 97,519,027 (GRCm39)	S361T	probably benign	Het
Fat3	T	A	9: 15,871,802 (GRCm39)	T3530S	probably benign	Het
Flvcr1	A	G	1: 190,757,843 (GRCm39)	Y108H	probably damaging	Het
Fsip2	T	G	2: 82,822,347 (GRCm39)	S6027A	probably benign	Het
Galnt14	A	G	17: 73,842,262 (GRCm39)	L209P	probably damaging	Het
Hif3a	C	A	7: 16,784,513 (GRCm39)	R25L	probably null	Het
Hsf5	A	G	11: 87,522,521 (GRCm39)		probably benign	Het
Il22ra2	A	T	10: 19,502,492 (GRCm39)	T104S	probably benign	Het
Klrk1	A	G	6: 129,592,316 (GRCm39)	S138P	probably damaging	Het
Lrp5	G	T	19: 3,664,283 (GRCm39)	Q815K	probably benign	Het
Morn4	A	G	19: 42,064,886 (GRCm39)		probably benign	Het
Nlrp14	T	A	7: 106,781,929 (GRCm39)	Y375*	probably null	Het
Nsd1	T	A	13: 55,443,943 (GRCm39)	M1714K	probably damaging	Het
Or2aj6	T	A	16: 19,443,848 (GRCm39)	M1L	probably benign	Het
Or5aq7	G	A	2: 86,938,710 (GRCm39)	T7I	possibly damaging	Het
Or6c213	T	A	10: 129,574,735 (GRCm39)	D17V	possibly damaging	Het
Pappa2	C	T	1: 158,678,786 (GRCm39)	A877T	probably benign	Het
Pcsk2	G	A	2: 143,532,262 (GRCm39)	A137T	probably damaging	Het
Piezo1	A	G	8: 123,212,044 (GRCm39)	V2054A	probably benign	Het
Rad52	A	G	6: 119,892,188 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Sbno1	A	G	5: 124,519,740 (GRCm39)		probably benign	Het
Scrn1	C	T	6: 54,489,186 (GRCm39)	D312N	probably benign	Het
Sin3b	A	G	8: 73,471,109 (GRCm39)	Q352R	probably benign	Het
Slc25a28	A	G	19: 43,652,885 (GRCm39)	Y259H	probably damaging	Het
Sppl2a	T	C	2: 126,768,216 (GRCm39)	M151V	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stra8	G	A	6: 34,916,094 (GRCm39)	D280N	probably damaging	Het
Thbs2	A	T	17: 14,897,275 (GRCm39)	D744E	possibly damaging	Het
Tiparp	A	G	3: 65,439,310 (GRCm39)	T27A	probably benign	Het
Tmem38a	T	C	8: 73,333,818 (GRCm39)	F99S	probably damaging	Het
Tmod3	T	C	9: 75,416,667 (GRCm39)	T222A	probably benign	Het
Tnn	A	G	1: 159,913,677 (GRCm39)	I1272T	probably damaging	Het
Tnpo1	A	T	13: 98,985,667 (GRCm39)	I829N	probably damaging	Het
Trpm5	A	T	7: 142,641,613 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,598,215 (GRCm39)	V19566A	probably damaging	Het
V1ra8	A	G	6: 90,180,040 (GRCm39)	D81G	probably damaging	Het
Zdhhc20	A	G	14: 58,127,564 (GRCm39)	V25A	probably benign	Het

Other mutations in Rusf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02451:Rusf1	APN	7	127,875,582 (GRCm39)	missense	probably damaging	1.00
IGL02527:Rusf1	APN	7	127,875,403 (GRCm39)	missense	possibly damaging	0.92
3-1:Rusf1	UTSW	7	127,875,301 (GRCm39)	missense	possibly damaging	0.87
PIT4445001:Rusf1	UTSW	7	127,875,706 (GRCm39)	missense	probably benign	0.15
R0364:Rusf1	UTSW	7	127,889,786 (GRCm39)	missense	probably damaging	1.00
R0590:Rusf1	UTSW	7	127,896,642 (GRCm39)	missense	probably damaging	1.00
R0616:Rusf1	UTSW	7	127,871,803 (GRCm39)	splice site	probably null
R2060:Rusf1	UTSW	7	127,887,503 (GRCm39)	missense	probably damaging	1.00
R3849:Rusf1	UTSW	7	127,884,380 (GRCm39)	missense	probably damaging	1.00
R4487:Rusf1	UTSW	7	127,887,530 (GRCm39)	missense	probably damaging	1.00
R4510:Rusf1	UTSW	7	127,875,312 (GRCm39)	missense	probably damaging	0.99
R4511:Rusf1	UTSW	7	127,875,312 (GRCm39)	missense	probably damaging	0.99
R4708:Rusf1	UTSW	7	127,873,852 (GRCm39)	missense	probably benign	0.00
R4793:Rusf1	UTSW	7	127,887,374 (GRCm39)	intron	probably benign
R4983:Rusf1	UTSW	7	127,875,645 (GRCm39)	unclassified	probably benign
R5502:Rusf1	UTSW	7	127,884,308 (GRCm39)	missense	probably damaging	1.00
R6181:Rusf1	UTSW	7	127,896,632 (GRCm39)	critical splice donor site	probably null
R6312:Rusf1	UTSW	7	127,872,715 (GRCm39)	missense	probably benign	0.02
R7898:Rusf1	UTSW	7	127,897,177 (GRCm39)	missense	probably benign	0.08
R8322:Rusf1	UTSW	7	127,889,786 (GRCm39)	missense	probably damaging	1.00
R8953:Rusf1	UTSW	7	127,872,678 (GRCm39)	missense	probably benign	0.01
R9600:Rusf1	UTSW	7	127,875,676 (GRCm39)	missense	possibly damaging	0.81

Posted On

2015-04-16