Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01401:Resf1'

79653

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 #

IGL01401

Quality Score

Status

Chromosome

Chromosomal Location

149210912-149237161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149228394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 480 (E480G)

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 damaging
Transcript: ENSMUST00000046689
AA Change: E480G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: E480G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100765
AA Change: E480G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: E480G

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 damaging
Transcript: ENSMUST00000189837
AA Change: E480G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: E480G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000189932
AA Change: E480G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: E480G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190785
AA Change: E480G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: E480G

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,836,516 (GRCm39)	V758A	possibly damaging	Het
Arf4	T	C	14: 26,359,609 (GRCm39)	L12P	probably damaging	Het
Bltp1	A	G	3: 36,996,441 (GRCm39)	N1051S	probably benign	Het
C4bp	A	T	1: 130,575,801 (GRCm39)	V230E	possibly damaging	Het
Carm1	T	A	9: 21,480,878 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Ceacam16	T	C	7: 19,595,054 (GRCm39)	Y8C	probably benign	Het
Ckap2l	A	T	2: 129,111,136 (GRCm39)	V687E	probably damaging	Het
Dcaf4	A	G	12: 83,588,148 (GRCm39)	D449G	probably damaging	Het
Dhx38	T	C	8: 110,278,746 (GRCm39)	Y1113C	probably benign	Het
Fry	A	G	5: 150,362,253 (GRCm39)	I161V	probably benign	Het
Gm17093	A	C	14: 44,758,984 (GRCm39)	M169L	unknown	Het
Gm20721	A	G	2: 174,187,295 (GRCm39)	D999G	probably damaging	Het
Grin2b	T	C	6: 135,713,361 (GRCm39)	H840R	probably damaging	Het
Hoxc12	C	A	15: 102,845,755 (GRCm39)	H156Q	probably benign	Het
Htr3b	T	C	9: 48,858,934 (GRCm39)	D68G	probably damaging	Het
Inpp5b	T	C	4: 124,639,880 (GRCm39)	V99A	probably damaging	Het
Klhl42	C	T	6: 147,009,241 (GRCm39)	T360M	probably benign	Het
Lmo7	C	T	14: 102,031,713 (GRCm39)	R36*	probably null	Het
Lmod3	T	G	6: 97,229,513 (GRCm39)	N7T	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mthfd2l	T	A	5: 91,148,425 (GRCm39)	I284K	possibly damaging	Het
Myo1e	T	A	9: 70,234,448 (GRCm39)	I267N	probably damaging	Het
Or13c7d	T	C	4: 43,770,112 (GRCm39)	R300G	probably damaging	Het
Or2y1g	T	A	11: 49,171,314 (GRCm39)	V113E	possibly damaging	Het
Prkce	T	C	17: 86,476,268 (GRCm39)	V83A	probably damaging	Het
Pxdn	G	T	12: 30,051,983 (GRCm39)	C540F	probably damaging	Het
Ryr2	T	A	13: 11,606,238 (GRCm39)	E4448V	possibly damaging	Het
Scn1a	A	T	2: 66,119,455 (GRCm39)	N1349K	probably damaging	Het
Smarcc1	T	C	9: 109,979,033 (GRCm39)	I172T	possibly damaging	Het
Syt16	T	C	12: 74,269,437 (GRCm39)	V92A	possibly damaging	Het
Tenm4	A	G	7: 96,523,474 (GRCm39)	Y1672C	probably damaging	Het
Tmem131	A	G	1: 36,838,468 (GRCm39)	Y1486H	probably damaging	Het
Tmem132a	A	G	19: 10,838,888 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,921,920 (GRCm39)	D314E	probably damaging	Het
Vmn2r79	G	A	7: 86,686,481 (GRCm39)	V621I	probably benign	Het
Wnk4	A	G	11: 101,167,509 (GRCm39)		probably benign	Het
Wwc1	C	A	11: 35,789,445 (GRCm39)		probably null	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
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
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

2013-11-05