Mutagenetix > Incidental Mutation

Incidental Mutation 'R2360:Resf1'

247106

Institutional Source

Beutler Lab

Gene Symbol

Resf1

Ensembl Gene

ENSMUSG00000032712

Gene Name

retroelement silencing factor 1

Synonyms

2810474O19Rik, GET

MMRRC Submission

040342-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2360 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149210912-149237161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149236145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1488 (I1488M)

Ref Sequence

ENSEMBL: ENSMUSP00000140026 (fasta)

Gene Model

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

AlphaFold

Q5DTW7

Predicted Effect

probably benign
Transcript: ENSMUST00000046689
AA Change: I1488M

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: I1488M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100765
AA Change: I1488M

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: I1488M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189837
AA Change: I1486M

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: I1486M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189932
AA Change: I1488M

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: I1488M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

93% (37/40)

Allele List at MGI

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

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,274,214 (GRCm39)		noncoding transcript	Het
Abca14	A	G	7: 119,850,431 (GRCm39)	E761G	probably benign	Het
Apc	C	T	18: 34,394,179 (GRCm39)	T35I	probably damaging	Het
Arhgef2	T	A	3: 88,541,723 (GRCm39)	I228N	probably damaging	Het
Atp6v1g2	A	G	17: 35,456,638 (GRCm39)	E74G	probably damaging	Het
Ccdc70	A	G	8: 22,463,447 (GRCm39)	E79G	probably damaging	Het
Cdc42ep4	A	G	11: 113,619,528 (GRCm39)	S288P	probably damaging	Het
Cip2a	C	T	16: 48,837,828 (GRCm39)	Q843*	probably null	Het
Cpn2	T	C	16: 30,078,321 (GRCm39)	D460G	probably benign	Het
Crtam	A	G	9: 40,884,811 (GRCm39)	*393Q	probably null	Het
Cwc22	A	G	2: 77,757,591 (GRCm39)	I179T	probably damaging	Het
Cyp3a41b	T	C	5: 145,507,221 (GRCm39)	M240V	probably benign	Het
Dnah8	A	T	17: 30,896,178 (GRCm39)	D864V	probably benign	Het
Map3k7	T	C	4: 31,964,302 (GRCm39)	S14P	unknown	Het
Med25	A	G	7: 44,534,566 (GRCm39)	S150P	probably damaging	Het
Mex3b	T	C	7: 82,517,070 (GRCm39)	V71A	probably benign	Het
Morc3	T	C	16: 93,638,275 (GRCm39)	L19S	probably damaging	Het
Morn1	T	A	4: 155,176,770 (GRCm39)	S98T	probably damaging	Het
Mthfd1l	G	T	10: 4,006,771 (GRCm39)	A678S	probably damaging	Het
Napa	A	G	7: 15,848,083 (GRCm39)	Y200C	probably damaging	Het
Nr5a2	T	C	1: 136,876,565 (GRCm39)	I33V	probably benign	Het
Or14j6	A	G	17: 38,215,345 (GRCm39)	K303E	possibly damaging	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Phf20l1	G	A	15: 66,466,769 (GRCm39)	R66Q	probably damaging	Het
Rfk	A	G	19: 17,375,960 (GRCm39)	T85A	probably benign	Het
Sbno2	T	C	10: 79,893,855 (GRCm39)	D1179G	possibly damaging	Het
Serpina3k	C	T	12: 104,307,166 (GRCm39)	Q133*	probably null	Het
Setd4	T	C	16: 93,383,122 (GRCm39)		probably benign	Het
Sh2d4b	C	T	14: 40,582,548 (GRCm39)		probably null	Het
Slc1a6	G	A	10: 78,648,718 (GRCm39)	V480I	possibly damaging	Het
Slc39a3	A	T	10: 80,867,104 (GRCm39)	V214E	possibly damaging	Het
Tll1	A	G	8: 64,504,435 (GRCm39)	Y654H	probably damaging	Het
Traf3ip1	T	A	1: 91,427,374 (GRCm39)	C115S	unknown	Het
Vmn1r209	T	A	13: 22,989,836 (GRCm39)	I285F	probably damaging	Het
Vmn2r87	G	T	10: 130,315,631 (GRCm39)	T145K	probably damaging	Het
Zan	T	C	5: 137,394,388 (GRCm39)	T4484A	unknown	Het
Zfp768	T	C	7: 126,943,810 (GRCm39)	E106G	probably benign	Het
Zfp984	A	G	4: 147,839,234 (GRCm39)	I539T	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTGTATATATGGCAGGGGAGG -3'
(R):5'- TTTCTGCAAGGGAGCCTGAA -3'

Sequencing Primer
(F):5'- TTGCCGTGAAACTCAGACTG -3'
(R):5'- AAAGAAAAGACTAGGGGTGTTCTC -3'

Posted On

2014-10-30