Mutagenetix > Incidental Mutation

Incidental Mutation 'R0787:Isg15'

76896

Institutional Source

Beutler Lab

Gene Symbol

Isg15

Ensembl Gene

ENSMUSG00000035692

Gene Name

ISG15 ubiquitin-like modifier

Synonyms

G1p2

MMRRC Submission

038967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156199424-156200818 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 156199939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 44 (R44H)

Ref Sequence

ENSEMBL: ENSMUSP00000082548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085425] [ENSMUST00000105140] [ENSMUST00000180572]

AlphaFold

Q64339

Predicted Effect

probably benign
Transcript: ENSMUST00000085425
AA Change: R44H

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082548
Gene: ENSMUSG00000035692
AA Change: R44H

Domain	Start	End	E-Value	Type
UBQ	3	74	8.2e-24	SMART
UBQ	80	151	2.93e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105140

SMART Domains

Protein: ENSMUSP00000100772
Gene: ENSMUSG00000078349

Domain	Start	End	E-Value	Type
low complexity region	95	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180572

SMART Domains

Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:NtA	32	159	5.1e-91	PFAM
FOLN	173	198	8.25e-6	SMART
KAZAL	198	244	1.22e-17	SMART
FOLN	249	273	7.58e-5	SMART
EGF_like	249	288	7.38e1	SMART
KAZAL	273	319	1.51e-13	SMART
KAZAL	348	391	1.8e-6	SMART
KAZAL	417	463	1.55e-10	SMART
FOLN	469	491	8.25e-6	SMART
KAZAL	491	536	1.14e-17	SMART
KAZAL	556	601	6.43e-17	SMART
FOLN	603	626	2.94e-2	SMART
KAZAL	614	666	8.96e-16	SMART
low complexity region	672	679	N/A	INTRINSIC
KAZAL	706	752	1.12e-16	SMART
EGF_Lam	795	846	3.29e-15	SMART
EGF_Lam	849	893	6.7e-7	SMART
FOLN	902	924	1.94e-2	SMART
KAZAL	924	971	3.9e-16	SMART
low complexity region	996	1013	N/A	INTRINSIC
low complexity region	1056	1085	N/A	INTRINSIC
SEA	1121	1243	2.26e-35	SMART
low complexity region	1249	1276	N/A	INTRINSIC
low complexity region	1290	1305	N/A	INTRINSIC
EGF	1321	1356	1.49e-4	SMART
LamG	1381	1517	4e-45	SMART
EGF	1541	1575	2.23e-3	SMART
EGF	1580	1614	7.13e-2	SMART
LamG	1649	1785	6.51e-36	SMART
EGF	1806	1842	4.35e-6	SMART
LamG	1878	2014	5.01e-37	SMART

Meta Mutation Damage Score

0.1055

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous null mice are viable and fertile and do not display immunological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001F09Rik	A	T	14: 43,345,493 (GRCm38)		probably null	Het
Abca8a	T	A	11: 110,042,988 (GRCm38)	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,798,516 (GRCm38)		probably null	Het
Adamts16	A	T	13: 70,738,829 (GRCm38)	C979S	probably damaging	Het
Agap2	T	A	10: 127,085,150 (GRCm38)	D523E	unknown	Het
Ankfy1	T	A	11: 72,760,296 (GRCm38)	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,994,678 (GRCm38)	S379G	probably null	Het
Arhgap40	T	C	2: 158,547,790 (GRCm38)	S625P	probably benign	Het
Armc12	G	C	17: 28,538,766 (GRCm38)	A291P	probably damaging	Het
Armc9	A	G	1: 86,202,505 (GRCm38)	N524D	probably damaging	Het
Col12a1	G	T	9: 79,638,485 (GRCm38)	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,047,635 (GRCm38)	N277S	probably benign	Het
Czib	T	A	4: 107,890,129 (GRCm38)	L6Q	probably damaging	Het
E130311K13Rik	A	T	3: 63,920,298 (GRCm38)	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,722,668 (GRCm38)	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,494,090 (GRCm38)	E58G	probably damaging	Het
Fam217b	T	A	2: 178,420,909 (GRCm38)	V222E	probably benign	Het
Fat1	T	A	8: 45,040,555 (GRCm38)	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,423,901 (GRCm38)		probably benign	Het
Hltf	A	T	3: 20,106,446 (GRCm38)	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,569,499 (GRCm38)		probably benign	Het
Itga4	C	T	2: 79,279,153 (GRCm38)	T232I	probably benign	Het
Kntc1	C	A	5: 123,796,104 (GRCm38)	H1399Q	probably benign	Het
Lig1	A	C	7: 13,299,069 (GRCm38)	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,454,231 (GRCm38)	C29F	probably damaging	Het
Mtmr10	T	C	7: 64,300,615 (GRCm38)	I136T	possibly damaging	Het
Naip1	A	G	13: 100,426,096 (GRCm38)	Y854H	probably benign	Het
Or6c201	T	C	10: 129,133,526 (GRCm38)	N81D	possibly damaging	Het
Pcdh9	G	A	14: 93,886,757 (GRCm38)	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,615,630 (GRCm38)		probably benign	Het
Phgdh	A	G	3: 98,334,549 (GRCm38)	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,690,523 (GRCm38)	M326K	probably benign	Het
Pirb	A	T	7: 3,717,638 (GRCm38)	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,076,177 (GRCm38)	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,529,264 (GRCm38)	P1665Q	probably damaging	Het
Ppp1r7	A	G	1: 93,364,956 (GRCm38)	T326A	probably damaging	Het
Prr22	A	T	17: 56,771,072 (GRCm38)	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,865,470 (GRCm38)		probably null	Het
Rasal2	A	G	1: 157,158,696 (GRCm38)	S766P	probably damaging	Het
Shmt1	T	C	11: 60,792,976 (GRCm38)	T337A	probably benign	Het
St5	G	T	7: 109,525,620 (GRCm38)	R1068S	possibly damaging	Het
Tbc1d4	A	T	14: 101,449,209 (GRCm38)	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,946,343 (GRCm38)	V1126A	probably benign	Het
Tep1	A	T	14: 50,829,230 (GRCm38)	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,789,561 (GRCm38)	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,370,484 (GRCm38)	I425V	probably benign	Het
Ubr3	T	C	2: 69,951,421 (GRCm38)		probably benign	Het
Ubxn7	T	A	16: 32,381,763 (GRCm38)		probably benign	Het
Vmn2r13	A	G	5: 109,156,847 (GRCm38)	S573P	probably damaging	Het
Wdfy3	A	T	5: 101,957,388 (GRCm38)	V191E	probably damaging	Het
Zdhhc3	A	T	9: 123,083,623 (GRCm38)	C153*	probably null	Het
Zfp407	A	T	18: 84,209,022 (GRCm38)	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,209,346 (GRCm38)	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,548 (GRCm38)	I227N	unknown	Het

Other mutations in Isg15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01757:Isg15	APN	4	156,199,844 (GRCm38)	missense	probably damaging	1.00
IGL03280:Isg15	APN	4	156,199,862 (GRCm38)	missense	probably benign	0.02
R1703:Isg15	UTSW	4	156,199,808 (GRCm38)	missense	possibly damaging	0.89
R1714:Isg15	UTSW	4	156,199,957 (GRCm38)	missense	probably damaging	1.00
R1757:Isg15	UTSW	4	156,199,990 (GRCm38)	missense	possibly damaging	0.52
R1984:Isg15	UTSW	4	156,199,793 (GRCm38)	missense	probably benign	0.00
R2044:Isg15	UTSW	4	156,199,792 (GRCm38)	missense	probably benign	0.43
R2431:Isg15	UTSW	4	156,200,701 (GRCm38)	splice site	probably null
R4738:Isg15	UTSW	4	156,199,862 (GRCm38)	missense	probably benign	0.02
R4911:Isg15	UTSW	4	156,199,760 (GRCm38)	missense	probably benign	0.00
R4997:Isg15	UTSW	4	156,199,697 (GRCm38)	missense	possibly damaging	0.58
R5692:Isg15	UTSW	4	156,199,822 (GRCm38)	missense	probably damaging	1.00
R7504:Isg15	UTSW	4	156,200,045 (GRCm38)	missense	probably damaging	1.00
R8338:Isg15	UTSW	4	156,199,631 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCTACAGTCTGCGTCAGAAAGACC -3'
(R):5'- GTTGTGGGACCCTTTAGAACCGAG -3'

Sequencing Primer
(F):5'- GTCAGAAAGACCTCATAGATGTTGC -3'
(R):5'- gtcatagcattaggagggttgag -3'

Posted On

2013-10-16