Mutagenetix > Incidental Mutation

Incidental Mutation 'R5673:Resf1'

442721

Institutional Source

Beutler Lab

Gene Symbol

Resf1

Ensembl Gene

ENSMUSG00000032712

Gene Name

retroelement silencing factor 1

Synonyms

2810474O19Rik, GET

MMRRC Submission

043175-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149210912-149237161 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 149229491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 846 (Q846*)

Ref Sequence

ENSEMBL: ENSMUSP00000139624 (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: Q846*

SMART Domains

Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: Q846*

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

Predicted Effect

probably null
Transcript: ENSMUST00000100765
AA Change: Q846*

SMART Domains

Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: Q846*

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: Q846*

SMART Domains

Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: Q846*

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

Predicted Effect

probably null
Transcript: ENSMUST00000189932
AA Change: Q846*

SMART Domains

Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: Q846*

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

Predicted Effect

probably null
Transcript: ENSMUST00000190785
AA Change: Q846*

SMART Domains

Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: Q846*

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,877,886 (GRCm39)	M94K	probably damaging	Het
Adam2	A	G	14: 66,306,681 (GRCm39)	Y103H	probably benign	Het
Adamts17	T	C	7: 66,691,555 (GRCm39)	C580R	probably damaging	Het
Aqp5	G	A	15: 99,492,046 (GRCm39)	V98I	probably benign	Het
Brd2	A	G	17: 34,331,581 (GRCm39)		probably benign	Het
Cd177	T	C	7: 24,449,787 (GRCm39)	N566S	probably damaging	Het
Cdh23	C	T	10: 60,143,636 (GRCm39)	D2992N	probably damaging	Het
Cfap69	T	C	5: 5,646,027 (GRCm39)	T140A	possibly damaging	Het
Cfi	A	G	3: 129,648,658 (GRCm39)	I181V	probably benign	Het
Cnksr1	A	G	4: 133,962,499 (GRCm39)	L133P	probably damaging	Het
Col1a2	C	T	6: 4,539,622 (GRCm39)	L1297F	unknown	Het
Crot	T	C	5: 9,038,131 (GRCm39)	N132S	probably benign	Het
Dnah3	T	A	7: 119,550,812 (GRCm39)	Q3169L	possibly damaging	Het
Dnah8	T	A	17: 31,022,235 (GRCm39)	M3945K	probably damaging	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fam204a	T	C	19: 60,188,415 (GRCm39)	K216E	probably damaging	Het
Far2	A	T	6: 148,047,602 (GRCm39)	S94C	possibly damaging	Het
Gm14226	T	A	2: 154,866,842 (GRCm39)	S266R	possibly damaging	Het
Gpr137	A	G	19: 6,916,466 (GRCm39)	F276L	probably damaging	Het
Lhx3	T	C	2: 26,093,006 (GRCm39)	Y148C	probably damaging	Het
Lrfn2	T	C	17: 49,403,625 (GRCm39)	S583P	probably benign	Het
Lrrc40	A	G	3: 157,754,035 (GRCm39)		probably null	Het
Mast4	A	T	13: 102,930,580 (GRCm39)	I224N	probably damaging	Het
Meis1	T	C	11: 18,962,812 (GRCm39)	K161E	probably damaging	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Mrgprb2	A	T	7: 48,202,121 (GRCm39)	F201L	probably benign	Het
Mroh1	T	A	15: 76,314,381 (GRCm39)	L686Q	probably damaging	Het
Mybbp1a	G	A	11: 72,335,751 (GRCm39)	V421I	probably benign	Het
Nadk	G	A	4: 155,669,642 (GRCm39)	V143I	possibly damaging	Het
Nell1	A	T	7: 49,878,594 (GRCm39)	T272S	probably damaging	Het
Npnt	A	T	3: 132,623,258 (GRCm39)	C94S	probably damaging	Het
Olfml2b	T	A	1: 170,509,698 (GRCm39)	V682E	probably damaging	Het
Pacs2	G	A	12: 113,032,618 (GRCm39)	V655M	probably damaging	Het
Pcdha1	A	C	18: 37,063,726 (GRCm39)	N130T	probably damaging	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,257,105 (GRCm39)	S566P	probably damaging	Het
Sirpa	T	G	2: 129,472,022 (GRCm39)	V483G	probably damaging	Het
Sox5	T	C	6: 144,062,206 (GRCm39)	R149G	probably damaging	Het
Tbc1d4	A	G	14: 101,692,444 (GRCm39)	S1007P	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,905 (GRCm39)	F317L	probably benign	Het
Ttn	T	C	2: 76,547,389 (GRCm39)	K32219R	probably damaging	Het
Vmn1r170	A	T	7: 23,305,630 (GRCm39)	T11S	possibly damaging	Het
Vmn2r65	G	T	7: 84,596,615 (GRCm39)	L147I	probably benign	Het
Vmn2r77	C	T	7: 86,461,214 (GRCm39)	H847Y	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
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
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'- CTATTCAGCAGGATCCTCACCC -3'
(R):5'- ATCTGTGAGTCACATGGGCTC -3'

Sequencing Primer
(F):5'- CCCTCGGGAAACTGATATGTTCAG -3'
(R):5'- TGAGTCACATGGGCTCTTTAC -3'

Posted On

2016-11-09