Mutagenetix > Incidental Mutations

Incidental Mutation 'R1894:Isg20'

211803

Institutional Source

Beutler Lab

Gene Symbol

Isg20

Ensembl Gene

ENSMUSG00000039236

Gene Name

interferon-stimulated protein

Synonyms

1600023I01Rik, 20kDa, DnaQl, 2010107M23Rik, HEM45

MMRRC Submission

039914-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78913424-78920396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78919899 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 206 (V206A)

Ref Sequence

ENSEMBL: ENSMUSP00000112621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038142] [ENSMUST00000118867] [ENSMUST00000120331] [ENSMUST00000121645] [ENSMUST00000205981]

Predicted Effect

probably benign
Transcript: ENSMUST00000038142

SMART Domains

Protein: ENSMUSP00000040080
Gene: ENSMUSG00000039236

Domain	Start	End	E-Value	Type
EXOIII	6	171	6.23e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118867

SMART Domains

Protein: ENSMUSP00000112480
Gene: ENSMUSG00000039236

Domain	Start	End	E-Value	Type
EXOIII	6	171	6.23e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120331

SMART Domains

Protein: ENSMUSP00000113255
Gene: ENSMUSG00000039236

Domain	Start	End	E-Value	Type
EXOIII	6	171	6.23e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121645
AA Change: V206A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112621
Gene: ENSMUSG00000039236
AA Change: V206A

Domain	Start	End	E-Value	Type
EXOIII	6	176	8.25e-29	SMART
low complexity region	182	201	N/A	INTRINSIC
low complexity region	208	224	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133042

Predicted Effect

probably benign
Transcript: ENSMUST00000205981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206812

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	T	1: 105,664,576	I157F	probably benign	Het
Adgrb2	T	C	4: 130,013,626	F977S	probably damaging	Het
Ago4	A	G	4: 126,512,600	Y306H	probably benign	Het
Cblc	T	C	7: 19,792,577	T196A	probably damaging	Het
Ccdc109b	T	C	3: 129,934,663	H55R	probably benign	Het
Cfap52	T	A	11: 67,953,619		probably null	Het
Cops3	T	C	11: 59,820,018	N375S	probably benign	Het
Crb1	T	C	1: 139,243,193	T759A	probably benign	Het
Dnah3	T	C	7: 120,086,334	K153E	probably benign	Het
Elovl1	C	T	4: 118,430,748	S27F	probably damaging	Het
Erc2	A	G	14: 28,141,228	E804G	probably damaging	Het
Fam110b	G	T	4: 5,798,840	C86F	probably damaging	Het
Fbn1	T	A	2: 125,394,621	R380W	probably damaging	Het
Gatad2a	C	T	8: 69,916,651	R221Q	probably damaging	Het
Gcn1l1	C	T	5: 115,589,115	P677L	probably damaging	Het
Gm6020	C	T	19: 61,183,953	H22Y	possibly damaging	Het
Gm9817	T	C	13: 45,079,129	V136A	unknown	Het
Gmip	T	A	8: 69,820,972	L971H	probably damaging	Het
Gnptab	G	A	10: 88,419,127	E192K	possibly damaging	Het
Grm7	G	A	6: 111,358,607	V660I	probably benign	Het
Helz2	G	A	2: 181,234,289	P1471S	probably damaging	Het
Herc1	G	A	9: 66,479,461	G3786S	probably damaging	Het
Jund	T	A	8: 70,699,821	I255N	probably damaging	Het
Kcnt2	A	T	1: 140,425,341	I263F	probably damaging	Het
Kif2c	A	T	4: 117,162,223	L561Q	probably benign	Het
Klhl3	T	C	13: 58,009,375	D546G	probably damaging	Het
Klk1b4	A	T	7: 44,209,630	Q24L	probably benign	Het
Ltbp2	A	T	12: 84,787,961	C225S	probably damaging	Het
Mecp2	C	T	X: 74,037,175	A79T	probably damaging	Het
Med18	G	A	4: 132,459,931	R86*	probably null	Het
Mfsd2b	T	C	12: 4,869,155	E63G	probably damaging	Het
Mtus1	C	T	8: 41,084,325	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,446,037	T565I	probably benign	Het
Myo15b	G	A	11: 115,887,073	G1049S	probably damaging	Het
Nfrkb	T	A	9: 31,414,768	V1169E	probably benign	Het
Nr2f2	T	A	7: 70,354,671	M411L	probably benign	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Nup214	A	T	2: 31,996,380	T585S	possibly damaging	Het
Olfr1025-ps1	C	T	2: 85,918,255	T110I	probably benign	Het
Olfr807	A	T	10: 129,755,074	C125*	probably null	Het
Olfr873	T	C	9: 20,300,337	S47P	probably benign	Het
Olfr875	T	A	9: 37,772,867	D69E	possibly damaging	Het
Pih1d1	T	A	7: 45,157,741	I166N	probably damaging	Het
Prl2c5	T	C	13: 13,191,678	F181L	probably benign	Het
Prx	C	T	7: 27,519,110	T1012I	possibly damaging	Het
Rassf8	T	A	6: 145,808,473	V5E	probably damaging	Het
Rassf9	C	A	10: 102,544,894	R44S	possibly damaging	Het
Sde2	G	A	1: 180,860,008	S153N	probably benign	Het
Sec16b	T	A	1: 157,552,975	M372K	possibly damaging	Het
Sgcd	A	T	11: 47,195,110	I71N	probably damaging	Het
Slco5a1	C	T	1: 12,872,259	C721Y	probably damaging	Het
Slx4ip	A	T	2: 137,068,118	K344N	probably benign	Het
Sorcs3	A	T	19: 48,794,274	Q1076L	probably benign	Het
Spata21	A	T	4: 141,111,381	N581I	possibly damaging	Het
Spata31d1d	G	T	13: 59,728,122	P533H	probably benign	Het
Spice1	T	G	16: 44,365,626	S111A	probably damaging	Het
Tex14	T	G	11: 87,474,448	F61V	probably damaging	Het
Timp3	C	T	10: 86,345,852	R196*	probably null	Het
Tll2	A	G	19: 41,088,671		probably null	Het
Tppp	A	G	13: 74,021,207	D22G	possibly damaging	Het
Trim24	G	T	6: 37,957,078	R652L	probably damaging	Het
Uaca	T	C	9: 60,870,436	S702P	possibly damaging	Het
Uggt2	T	C	14: 119,049,718	E146G	probably damaging	Het
Vmn1r233	T	C	17: 20,993,732	S319G	probably benign	Het
Wdr47	A	T	3: 108,623,376	Q395L	possibly damaging	Het
Wrnip1	A	G	13: 32,805,336		probably null	Het
Zfp420	A	T	7: 29,874,508	H51L	probably damaging	Het

Other mutations in Isg20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Isg20	APN	7	78916584	missense	probably damaging	1.00
IGL01399:Isg20	APN	7	78920088	missense	possibly damaging	0.92
IGL01680:Isg20	APN	7	78916585	missense	probably damaging	1.00
IGL01769:Isg20	APN	7	78914381	missense	probably damaging	1.00
R0233:Isg20	UTSW	7	78914495	missense	probably damaging	0.99
R0233:Isg20	UTSW	7	78916586	missense	probably damaging	1.00
R0233:Isg20	UTSW	7	78914495	missense	probably damaging	0.99
R0233:Isg20	UTSW	7	78916586	missense	probably damaging	1.00
R0400:Isg20	UTSW	7	78916725	missense	possibly damaging	0.89
R1562:Isg20	UTSW	7	78920143	missense	probably benign	0.17
R1610:Isg20	UTSW	7	78914509	missense	possibly damaging	0.48
R2033:Isg20	UTSW	7	78916533	missense	probably damaging	0.98
R2992:Isg20	UTSW	7	78919884	missense	probably benign	0.10
R3159:Isg20	UTSW	7	78914453	missense	possibly damaging	0.62
R4678:Isg20	UTSW	7	78914328	unclassified	probably benign
R5787:Isg20	UTSW	7	78919810	missense	probably benign	0.04
R7834:Isg20	UTSW	7	78920119	missense	probably damaging	0.99
R8554:Isg20	UTSW	7	78916677	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AAGAGCTTCTGTTTTAGCGCCTC -3'
(R):5'- GCATCTTCCACAGAGCAGTG -3'

Sequencing Primer
(F):5'- TGCCTGGCAGCCTCTTG -3'
(R):5'- CACAGAGCAGTGGCCCC -3'

Posted On

2014-06-30