Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03202:Resf1'

413025

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 #

IGL03202

Quality Score

Status

Chromosome

Chromosomal Location

149210912-149237161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 149227937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 328 (V328I)

Ref Sequence

ENSEMBL: ENSMUSP00000115573 (fasta)

Gene Model

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

AlphaFold

Q5DTW7

Predicted Effect

probably benign
Transcript: ENSMUST00000046689
AA Change: V328I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: V328I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100765
AA Change: V328I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: V328I

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
AA Change: V328I

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000185930

Predicted Effect

probably benign
Transcript: ENSMUST00000187881

Predicted Effect

probably benign
Transcript: ENSMUST00000189837
AA Change: V328I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: V328I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189932
AA Change: V328I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: V328I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190785
AA Change: V328I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: V328I

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 86,909,911 (GRCm39)	M1T	probably null	Het
Ace	T	A	11: 105,867,788 (GRCm39)	I168N	probably damaging	Het
Actr10	T	G	12: 70,987,605 (GRCm39)	C37W	probably damaging	Het
Atp10b	T	C	11: 43,125,268 (GRCm39)		probably null	Het
Bend5	A	G	4: 111,290,441 (GRCm39)	N146D	possibly damaging	Het
Cacna1b	A	G	2: 24,541,124 (GRCm39)	F1347L	probably damaging	Het
Crybg3	T	A	16: 59,315,072 (GRCm39)	I2910F	probably damaging	Het
Cspg4	T	C	9: 56,805,023 (GRCm39)	S1945P	possibly damaging	Het
Cxcr4	T	G	1: 128,516,641 (GRCm39)	K340T	probably damaging	Het
Dnah6	T	A	6: 73,121,683 (GRCm39)	Y1433F	probably damaging	Het
Eif2ak4	T	C	2: 118,231,101 (GRCm39)	V77A	probably damaging	Het
Fscn3	A	T	6: 28,434,451 (GRCm39)	H342L	probably benign	Het
Gm9843	T	C	16: 76,200,234 (GRCm39)		noncoding transcript	Het
Hdac9	T	C	12: 34,423,950 (GRCm39)	E520G	probably damaging	Het
Itm2b	G	A	14: 73,603,229 (GRCm39)	P120L	probably damaging	Het
Itpa	T	A	2: 130,509,859 (GRCm39)		probably benign	Het
Lce1l	A	T	3: 92,757,631 (GRCm39)	C76S	unknown	Het
Lin54	A	G	5: 100,623,673 (GRCm39)	S55P	possibly damaging	Het
Lrrc37	T	A	11: 103,506,199 (GRCm39)	E1923V	probably benign	Het
Mtfmt	C	A	9: 65,356,008 (GRCm39)	P303Q	probably damaging	Het
Nae1	A	T	8: 105,244,811 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 26,983,011 (GRCm39)		probably benign	Het
Or13a19	A	G	7: 139,903,019 (GRCm39)	M136V	possibly damaging	Het
Or1e22	G	A	11: 73,377,351 (GRCm39)	Q100*	probably null	Het
Pcnx2	A	C	8: 126,498,783 (GRCm39)	I1572S	probably damaging	Het
Piezo2	A	T	18: 63,144,669 (GRCm39)	Y2809N	probably damaging	Het
Pygl	G	T	12: 70,246,420 (GRCm39)	Q376K	probably benign	Het
Rrp12	T	C	19: 41,857,205 (GRCm39)		probably null	Het
Sephs1	A	T	2: 4,894,074 (GRCm39)	I92F	possibly damaging	Het
Taar4	T	C	10: 23,836,692 (GRCm39)	F101L	probably damaging	Het
Tenm2	A	G	11: 35,915,375 (GRCm39)	I2053T	probably damaging	Het
Tgfbr3	T	G	5: 107,257,630 (GRCm39)		probably benign	Het
Vmn2r108	A	T	17: 20,691,319 (GRCm39)	Y401*	probably null	Het
Vmn2r87	A	G	10: 130,333,091 (GRCm39)	M53T	probably benign	Het
Zfp941	A	G	7: 140,392,966 (GRCm39)	V131A	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
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

2016-08-02