Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01461:Resf1'

87999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Resf1

Ensembl Gene

ENSMUSG00000032712

Gene Name

retroelement silencing factor 1

Synonyms

2810474O19Rik, GET

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01461

Quality Score

Status

Chromosome

Chromosomal Location

149210912-149237161 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 149233013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046689] [ENSMUST00000100765] [ENSMUST00000130664] [ENSMUST00000189837] [ENSMUST00000189932] [ENSMUST00000190785]

AlphaFold

Q5DTW7

Predicted Effect

probably benign
Transcript: ENSMUST00000046689

SMART Domains

Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1513	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100765

SMART Domains

Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1513	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130664

Predicted Effect

probably benign
Transcript: ENSMUST00000189837

SMART Domains

Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1511	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189932

SMART Domains

Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1513	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190785

SMART Domains

Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1173	9.4e-255	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(126) : Targeted, knock-out(1) Gene trapped(125)

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,429,214 (GRCm39)	F767S	probably benign	Het
Abca13	A	G	11: 9,353,834 (GRCm39)	T3719A	probably damaging	Het
Apob	A	T	12: 8,051,884 (GRCm39)	M1137L	probably benign	Het
Brd9	C	T	13: 74,099,717 (GRCm39)	Q445*	probably null	Het
Cdh23	T	C	10: 60,244,926 (GRCm39)	T990A	possibly damaging	Het
Cenpf	A	G	1: 189,389,293 (GRCm39)	L1513S	probably damaging	Het
Col27a1	A	G	4: 63,142,480 (GRCm39)	K56R	probably damaging	Het
Cryaa	A	G	17: 31,900,000 (GRCm39)	Y118C	probably damaging	Het
Dtl	T	C	1: 191,278,729 (GRCm39)	T378A	possibly damaging	Het
E330020D12Rik	A	G	1: 153,284,105 (GRCm39)		noncoding transcript	Het
F7	A	G	8: 13,082,245 (GRCm39)	D145G	possibly damaging	Het
Flvcr2	A	G	12: 85,849,905 (GRCm39)		probably benign	Het
Hltf	A	T	3: 20,154,103 (GRCm39)	K680*	probably null	Het
Ing1	T	G	8: 11,611,453 (GRCm39)	F22V	probably benign	Het
Ipo5	A	G	14: 121,165,945 (GRCm39)	D330G	probably damaging	Het
Itgax	G	T	7: 127,734,190 (GRCm39)	D321Y	probably damaging	Het
Kel	A	C	6: 41,678,845 (GRCm39)		probably null	Het
Marchf10	T	C	11: 105,280,431 (GRCm39)	K618R	probably damaging	Het
Mast4	T	A	13: 102,890,576 (GRCm39)	M925L	probably damaging	Het
Miga1	C	T	3: 152,040,934 (GRCm39)	E78K	probably damaging	Het
Or4c106	G	T	2: 88,682,669 (GRCm39)	C125F	probably damaging	Het
Or7e165	T	A	9: 19,695,245 (GRCm39)		probably null	Het
Pkdrej	T	C	15: 85,704,575 (GRCm39)	I454V	possibly damaging	Het
Poglut2	T	C	1: 44,150,094 (GRCm39)	Q365R	probably damaging	Het
Prpf6	C	A	2: 181,273,304 (GRCm39)	T283N	probably benign	Het
R3hdm1	A	G	1: 128,106,643 (GRCm39)	H197R	probably damaging	Het
Smpd4	A	C	16: 17,439,370 (GRCm39)	Q7P	probably damaging	Het
Vmn2r84	A	T	10: 130,227,094 (GRCm39)	I248K	possibly damaging	Het

Other mutations in Resf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Resf1	APN	6	149,236,248 (GRCm39)	utr 3 prime	probably benign
IGL01401:Resf1	APN	6	149,228,394 (GRCm39)	missense	probably damaging	0.98
IGL01610:Resf1	APN	6	149,230,449 (GRCm39)	missense	probably benign	0.01
IGL02873:Resf1	APN	6	149,228,538 (GRCm39)	missense	probably damaging	1.00
IGL03202:Resf1	APN	6	149,227,937 (GRCm39)	missense	probably benign	0.08
grand_junction	UTSW	6	149,229,376 (GRCm39)	missense	probably damaging	0.98
grand_marais	UTSW	6	149,227,958 (GRCm39)	nonsense	probably null
3-1:Resf1	UTSW	6	149,229,227 (GRCm39)	missense	probably damaging	0.98
B6584:Resf1	UTSW	6	149,230,844 (GRCm39)	missense	probably damaging	0.96
PIT4280001:Resf1	UTSW	6	149,227,023 (GRCm39)	missense	probably benign	0.23
R0053:Resf1	UTSW	6	149,229,088 (GRCm39)	missense	probably benign	0.00
R0053:Resf1	UTSW	6	149,229,088 (GRCm39)	missense	probably benign	0.00
R0243:Resf1	UTSW	6	149,227,739 (GRCm39)	missense	probably damaging	1.00
R0620:Resf1	UTSW	6	149,229,873 (GRCm39)	missense	probably damaging	1.00
R0633:Resf1	UTSW	6	149,227,199 (GRCm39)	missense	probably benign	0.00
R0727:Resf1	UTSW	6	149,227,320 (GRCm39)	missense	possibly damaging	0.94
R0904:Resf1	UTSW	6	149,229,767 (GRCm39)	missense	probably damaging	0.99
R1221:Resf1	UTSW	6	149,227,719 (GRCm39)	missense	probably benign	0.24
R1282:Resf1	UTSW	6	149,230,670 (GRCm39)	nonsense	probably null
R1435:Resf1	UTSW	6	149,227,580 (GRCm39)	missense	probably benign	0.04
R1452:Resf1	UTSW	6	149,228,130 (GRCm39)	missense	probably damaging	1.00
R1587:Resf1	UTSW	6	149,228,018 (GRCm39)	missense	probably damaging	1.00
R1912:Resf1	UTSW	6	149,230,342 (GRCm39)	missense	possibly damaging	0.80
R1926:Resf1	UTSW	6	149,230,902 (GRCm39)	missense	probably benign	0.39
R1978:Resf1	UTSW	6	149,227,930 (GRCm39)	missense	probably benign	0.12
R2035:Resf1	UTSW	6	149,230,724 (GRCm39)	missense	possibly damaging	0.91
R2136:Resf1	UTSW	6	149,230,320 (GRCm39)	missense	probably benign	0.01
R2333:Resf1	UTSW	6	149,229,009 (GRCm39)	missense	probably damaging	1.00
R2360:Resf1	UTSW	6	149,236,145 (GRCm39)	missense	probably benign	0.05
R3027:Resf1	UTSW	6	149,230,533 (GRCm39)	missense	probably benign	0.02
R3121:Resf1	UTSW	6	149,230,741 (GRCm39)	nonsense	probably null
R3707:Resf1	UTSW	6	149,230,611 (GRCm39)	missense	probably damaging	0.98
R4204:Resf1	UTSW	6	149,231,042 (GRCm39)	nonsense	probably null
R4247:Resf1	UTSW	6	149,227,041 (GRCm39)	missense	possibly damaging	0.87
R4249:Resf1	UTSW	6	149,227,041 (GRCm39)	missense	possibly damaging	0.87
R4304:Resf1	UTSW	6	149,227,736 (GRCm39)	nonsense	probably null
R4385:Resf1	UTSW	6	149,227,706 (GRCm39)	missense	possibly damaging	0.93
R4702:Resf1	UTSW	6	149,230,901 (GRCm39)	missense	probably benign	0.05
R4747:Resf1	UTSW	6	149,228,392 (GRCm39)	missense	probably damaging	0.96
R4912:Resf1	UTSW	6	149,230,887 (GRCm39)	missense	probably damaging	1.00
R4913:Resf1	UTSW	6	149,230,887 (GRCm39)	missense	probably damaging	1.00
R4965:Resf1	UTSW	6	149,229,896 (GRCm39)	nonsense	probably null
R4971:Resf1	UTSW	6	149,227,097 (GRCm39)	unclassified	probably benign
R5077:Resf1	UTSW	6	149,227,528 (GRCm39)	missense	probably benign	0.14
R5213:Resf1	UTSW	6	149,227,551 (GRCm39)	missense	possibly damaging	0.77
R5382:Resf1	UTSW	6	149,227,958 (GRCm39)	nonsense	probably null
R5418:Resf1	UTSW	6	149,227,634 (GRCm39)	missense	probably damaging	1.00
R5452:Resf1	UTSW	6	149,230,611 (GRCm39)	nonsense	probably null
R5498:Resf1	UTSW	6	149,229,738 (GRCm39)	missense	probably damaging	0.99
R5673:Resf1	UTSW	6	149,229,491 (GRCm39)	nonsense	probably null
R5690:Resf1	UTSW	6	149,229,735 (GRCm39)	missense	possibly damaging	0.95
R5916:Resf1	UTSW	6	149,228,076 (GRCm39)	missense	probably damaging	0.99
R5917:Resf1	UTSW	6	149,236,179 (GRCm39)	missense	probably damaging	0.98
R6160:Resf1	UTSW	6	149,233,005 (GRCm39)	critical splice donor site	probably null
R6280:Resf1	UTSW	6	149,228,555 (GRCm39)	missense	probably damaging	1.00
R6326:Resf1	UTSW	6	149,230,493 (GRCm39)	missense	probably damaging	0.96
R6396:Resf1	UTSW	6	149,229,417 (GRCm39)	missense	probably damaging	1.00
R6702:Resf1	UTSW	6	149,229,376 (GRCm39)	missense	probably damaging	0.98
R6972:Resf1	UTSW	6	149,227,607 (GRCm39)	missense	probably damaging	0.99
R7127:Resf1	UTSW	6	149,229,443 (GRCm39)	missense	possibly damaging	0.95
R7168:Resf1	UTSW	6	149,229,341 (GRCm39)	missense	probably benign
R7316:Resf1	UTSW	6	149,228,136 (GRCm39)	missense	probably damaging	0.99
R7586:Resf1	UTSW	6	149,228,291 (GRCm39)	missense	possibly damaging	0.76
R7719:Resf1	UTSW	6	149,228,853 (GRCm39)	missense	probably benign
R7751:Resf1	UTSW	6	149,226,936 (GRCm39)	start gained	probably benign
R8013:Resf1	UTSW	6	149,230,368 (GRCm39)	missense	probably damaging	0.96
R8358:Resf1	UTSW	6	149,228,076 (GRCm39)	missense	probably damaging	0.99
R8393:Resf1	UTSW	6	149,229,998 (GRCm39)	missense	possibly damaging	0.56
R8968:Resf1	UTSW	6	149,228,664 (GRCm39)	missense	probably damaging	0.96
R8977:Resf1	UTSW	6	149,229,906 (GRCm39)	missense	probably damaging	0.99
R8981:Resf1	UTSW	6	149,227,997 (GRCm39)	missense	probably benign	0.06
R9106:Resf1	UTSW	6	149,230,368 (GRCm39)	missense	possibly damaging	0.77
R9208:Resf1	UTSW	6	149,228,027 (GRCm39)	missense	probably damaging	0.99
R9294:Resf1	UTSW	6	149,227,930 (GRCm39)	missense	probably benign	0.12
R9352:Resf1	UTSW	6	149,236,180 (GRCm39)	missense	probably damaging	1.00
R9361:Resf1	UTSW	6	149,228,132 (GRCm39)	missense	possibly damaging	0.70
R9513:Resf1	UTSW	6	149,229,793 (GRCm39)	nonsense	probably null
R9566:Resf1	UTSW	6	149,227,352 (GRCm39)	missense	possibly damaging	0.91
R9623:Resf1	UTSW	6	149,226,965 (GRCm39)	missense	possibly damaging	0.91
R9689:Resf1	UTSW	6	149,229,766 (GRCm39)	nonsense	probably null
R9752:Resf1	UTSW	6	149,228,068 (GRCm39)	missense	probably benign	0.07
R9794:Resf1	UTSW	6	149,228,239 (GRCm39)	nonsense	probably null

Posted On

2013-11-18