Mutagenetix > Incidental Mutation

Incidental Mutation 'R4204:Resf1'

318829

Institutional Source

Beutler Lab

Gene Symbol

Resf1

Ensembl Gene

ENSMUSG00000032712

Gene Name

retroelement silencing factor 1

Synonyms

2810474O19Rik, GET

MMRRC Submission

041033-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4204 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149210912-149237161 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 149231042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1363 (R1363*)

Ref Sequence

ENSEMBL: ENSMUSP00000140026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046689] [ENSMUST00000100765] [ENSMUST00000127680] [ENSMUST00000130664] [ENSMUST00000185930] [ENSMUST00000187881] [ENSMUST00000189837] [ENSMUST00000189932] [ENSMUST00000190785]

AlphaFold

Q5DTW7

Predicted Effect

probably null
Transcript: ENSMUST00000046689
AA Change: R1363*

SMART Domains

Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: R1363*

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

Predicted Effect

probably null
Transcript: ENSMUST00000100765
AA Change: R1363*

SMART Domains

Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: R1363*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127680

Predicted Effect

probably benign
Transcript: ENSMUST00000130664

Predicted Effect

probably benign
Transcript: ENSMUST00000185930

Predicted Effect

probably benign
Transcript: ENSMUST00000187881

Predicted Effect

probably null
Transcript: ENSMUST00000189837
AA Change: R1363*

SMART Domains

Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: R1363*

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

Predicted Effect

probably null
Transcript: ENSMUST00000189932
AA Change: R1363*

SMART Domains

Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: R1363*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (46/47)

Allele List at MGI

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

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,090,369 (GRCm39)	K360R	probably benign	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
B130006D01Rik	A	G	11: 95,617,250 (GRCm39)		probably benign	Het
BC028528	A	T	3: 95,797,057 (GRCm39)	Y37*	probably null	Het
Ccdc171	A	T	4: 83,599,392 (GRCm39)	M736L	probably benign	Het
Ccdc88a	A	G	11: 29,413,399 (GRCm39)	K646E	probably damaging	Het
Fam83b	T	C	9: 76,410,335 (GRCm39)	T192A	probably benign	Het
Hgs	C	A	11: 120,368,013 (GRCm39)	P241T	probably damaging	Het
Itga4	T	C	2: 79,109,505 (GRCm39)	Y235H	probably damaging	Het
Kank2	A	G	9: 21,706,923 (GRCm39)	Y32H	probably damaging	Het
Kprp	A	C	3: 92,732,046 (GRCm39)	S335A	probably damaging	Het
Lgals9	C	T	11: 78,860,642 (GRCm39)		probably benign	Het
Mfrp	G	A	9: 44,016,525 (GRCm39)	G407S	possibly damaging	Het
Mfsd9	C	T	1: 40,820,670 (GRCm39)	G160R	probably damaging	Het
Mrtfb	A	T	16: 13,221,119 (GRCm39)	Q776L	possibly damaging	Het
Mtcl1	T	C	17: 66,745,256 (GRCm39)	Y35C	probably damaging	Het
Nhej1	A	T	1: 75,085,782 (GRCm39)	I6N	probably damaging	Het
Npy5r	G	T	8: 67,134,693 (GRCm39)	Y33*	probably null	Het
Or4c120	A	G	2: 89,001,124 (GRCm39)	V144A	probably benign	Het
Pcdha8	G	C	18: 37,127,737 (GRCm39)	V740L	probably damaging	Het
Pde8b	C	A	13: 95,359,053 (GRCm39)	C90F	probably benign	Het
Pex14	T	C	4: 149,047,984 (GRCm39)	T198A	probably benign	Het
Ppp2r2b	T	A	18: 42,871,115 (GRCm39)	H62L	probably benign	Het
Prodh	A	G	16: 17,890,182 (GRCm39)	V553A	probably damaging	Het
Rasgef1c	G	A	11: 49,849,535 (GRCm39)	V137M	probably benign	Het
Rgl2	G	T	17: 34,155,906 (GRCm39)	V694L	probably benign	Het
Rnf133	T	C	6: 23,649,048 (GRCm39)	N294D	probably benign	Het
Rpe65	G	A	3: 159,310,047 (GRCm39)	A107T	probably damaging	Het
Sacs	A	G	14: 61,410,892 (GRCm39)	R56G	possibly damaging	Het
Serp2	A	G	14: 76,793,902 (GRCm39)	I18T	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sis	T	C	3: 72,868,415 (GRCm39)	I92V	probably benign	Het
Tcaim	A	G	9: 122,662,683 (GRCm39)	K417R	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tmem132c	A	G	5: 127,640,829 (GRCm39)	D1000G	possibly damaging	Het
Trpm3	T	A	19: 22,964,928 (GRCm39)	D1474E	probably benign	Het
Ubxn2a	T	C	12: 4,944,593 (GRCm39)	E43G	probably damaging	Het
Utp14b	G	A	1: 78,642,539 (GRCm39)	E146K	probably benign	Het
Zfp800	C	T	6: 28,243,180 (GRCm39)	S595N	probably benign	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
IGL01461:Resf1	APN	6	149,233,013 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AAGATCCATCACTCTGAGGCG -3'
(R):5'- GGTGCTTGCTCTTTCTCAGGAC -3'

Sequencing Primer
(F):5'- TCACTCTGAGGCGTCTAGAAC -3'
(R):5'- ACAATCCTGCTTGTCAACAGTG -3'

Posted On

2015-06-10