Mutagenetix > Incidental Mutations

Incidental Mutation 'R0363:Isy1'

30180

Institutional Source

Beutler Lab

Gene Symbol

Isy1

Ensembl Gene

ENSMUSG00000030056

Gene Name

ISY1 splicing factor homolog

Synonyms

5830446M03Rik

MMRRC Submission

038569-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R0363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87814269-87838798 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87819185 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 257 (R257W)

Ref Sequence

ENSEMBL: ENSMUSP00000086923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089497] [ENSMUST00000204419] [ENSMUST00000204881] [ENSMUST00000205070]

PDB Structure

Solution structure of Isy1 domain in hypothetical protein [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000089497
AA Change: R257W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000086923
Gene: ENSMUSG00000030056
AA Change: R257W

Domain	Start	End	E-Value	Type
Pfam:Isy1	1	266	5.1e-101	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203429

Predicted Effect

probably benign
Transcript: ENSMUST00000204169

Predicted Effect

probably benign
Transcript: ENSMUST00000204419

SMART Domains

Protein: ENSMUSP00000144743
Gene: ENSMUSG00000107928

Domain	Start	End	E-Value	Type
Pfam:Isy1	1	218	1.8e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204881

SMART Domains

Protein: ENSMUSP00000144710
Gene: ENSMUSG00000030056

Domain	Start	End	E-Value	Type
Pfam:Isy1	1	124	6.8e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205070

SMART Domains

Protein: ENSMUSP00000144956
Gene: ENSMUSG00000030056

Domain	Start	End	E-Value	Type
Pfam:Isy1	1	50	8.1e-17	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 86.5%

Validation Efficiency

98% (78/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	A	4: 109,524,323	Q86L	probably null	Het
5430403G16Rik	T	C	5: 109,676,888	E232G	probably benign	Het
Abhd2	A	G	7: 79,350,813	D262G	possibly damaging	Het
Abhd5	T	C	9: 122,368,146	F133L	possibly damaging	Het
Agap2	T	A	10: 127,090,965	V957E	probably damaging	Het
Ankrd12	T	C	17: 65,985,681	K919R	probably damaging	Het
Ap1m1	T	C	8: 72,256,724		probably benign	Het
Ap1m1	T	C	8: 72,252,894	S245P	probably benign	Het
Apcdd1	A	G	18: 62,937,097	Y145C	possibly damaging	Het
Apob	A	T	12: 8,010,136	N2840Y	probably damaging	Het
Arel1	A	G	12: 84,934,253	S327P	probably damaging	Het
Arhgap21	C	A	2: 20,881,133	R421L	probably damaging	Het
Ccdc85a	A	T	11: 28,583,400	I48N	probably damaging	Het
Chd6	A	G	2: 161,014,324	S672P	probably damaging	Het
Ciz1	G	C	2: 32,377,363		probably null	Het
Cmbl	G	A	15: 31,585,442		probably null	Het
Cmya5	A	G	13: 93,094,869	V1237A	possibly damaging	Het
Cntnap4	A	T	8: 112,856,511	K1074*	probably null	Het
Cntnap5b	A	G	1: 100,274,468	M347V	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cuzd1	A	T	7: 131,316,262	M203K	probably benign	Het
Cyp3a16	T	C	5: 145,455,879		probably benign	Het
Dlgap3	A	G	4: 127,235,521	E892G	probably damaging	Het
Dnah7b	T	C	1: 46,236,788	S2612P	probably damaging	Het
Epas1	T	G	17: 86,805,848		probably benign	Het
Etv5	G	A	16: 22,411,708	A192V	probably benign	Het
Fa2h	T	A	8: 111,349,289	H234L	probably damaging	Het
Fcho1	T	C	8: 71,717,490	Y47C	probably damaging	Het
Flvcr1	T	A	1: 191,012,254		probably benign	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,442,574		probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Inpp4b	T	C	8: 81,884,257		probably benign	Het
Kmt2a	A	G	9: 44,809,713		probably null	Het
Krt4	G	A	15: 101,924,646	R9C	possibly damaging	Het
Map1a	T	C	2: 121,302,044	S876P	probably damaging	Het
Mettl21e	A	G	1: 44,211,030		probably null	Het
Msh2	C	T	17: 87,717,476	T594M	probably benign	Het
Mtmr3	A	G	11: 4,487,536	S973P	probably damaging	Het
Muc5ac	A	T	7: 141,800,960	M889L	probably benign	Het
Ntn1	A	G	11: 68,385,543	I193T	probably benign	Het
Nudt13	A	T	14: 20,309,783	I193F	probably damaging	Het
Olfr1272	A	T	2: 90,281,856	S240T	probably damaging	Het
Olfr134	A	G	17: 38,175,447	D121G	probably damaging	Het
Olfr410	C	T	11: 74,335,099	G44D	probably damaging	Het
Olfr498	A	T	7: 108,465,734	T137S	possibly damaging	Het
Otulin	A	G	15: 27,606,295	V344A	probably damaging	Het
P2rx7	C	T	5: 122,657,030	Q128*	probably null	Het
Pcdhb22	G	A	18: 37,519,160	R227H	probably benign	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Pltp	C	T	2: 164,840,136	R394H	probably benign	Het
Ppip5k1	C	G	2: 121,347,355	A324P	probably damaging	Het
Pramef17	C	T	4: 143,991,651	M407I	probably benign	Het
Prdm13	A	C	4: 21,679,737	V251G	unknown	Het
Prkg1	T	C	19: 31,664,196	E29G	probably damaging	Het
Prrc2c	A	G	1: 162,697,811	S409P	unknown	Het
Rp1	T	A	1: 4,347,718	D1057V	probably damaging	Het
Rttn	G	A	18: 89,010,955	C599Y	probably damaging	Het
Shisa6	C	T	11: 66,525,327	R213Q	probably benign	Het
Slc3a1	T	C	17: 85,032,845	Y232H	probably damaging	Het
Slx4	G	A	16: 3,980,089	A1477V	probably damaging	Het
Ssrp1	T	G	2: 85,040,674	I218S	probably damaging	Het
St6galnac1	A	C	11: 116,768,930	S186A	probably benign	Het
Stab1	A	G	14: 31,159,008		probably benign	Het
Sycp2	T	C	2: 178,346,411		probably benign	Het
Syne2	T	A	12: 76,072,207	I5867N	probably damaging	Het
Taar7f	T	A	10: 24,049,941	D144E	probably damaging	Het
Tmem136	A	T	9: 43,111,753	M84K	probably damaging	Het
Tmem87b	T	A	2: 128,831,233	S196T	probably damaging	Het
Tnfrsf21	A	G	17: 43,037,877	T127A	probably benign	Het
Trp73	A	G	4: 154,063,949	I336T	probably benign	Het
Ttl	A	G	2: 129,076,061	I148V	probably damaging	Het
Ttll7	T	C	3: 146,944,215	Y667H	probably benign	Het
Ubr4	A	G	4: 139,391,860	T152A	probably damaging	Het
Vmn1r58	A	T	7: 5,410,637	V198E	probably damaging	Het
Vps52	T	A	17: 33,962,117	F376L	probably benign	Het

Other mutations in Isy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4354001:Isy1	UTSW	6	87833671	missense	possibly damaging	0.68
R0105:Isy1	UTSW	6	87819185	missense	probably damaging	1.00
R0105:Isy1	UTSW	6	87819185	missense	probably damaging	1.00
R0106:Isy1	UTSW	6	87819185	missense	probably damaging	1.00
R0106:Isy1	UTSW	6	87819185	missense	probably damaging	1.00
R0718:Isy1	UTSW	6	87819176	missense	probably damaging	1.00
R0866:Isy1	UTSW	6	87819112	missense	probably benign	0.04
R0926:Isy1	UTSW	6	87819143	missense	probably benign
R1674:Isy1	UTSW	6	87834487	missense	probably damaging	1.00
R3783:Isy1	UTSW	6	87821545	missense	possibly damaging	0.70
R7320:Isy1	UTSW	6	87833706	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTATCAGGCCAGCTCACATTCCAG -3'
(R):5'- CCGTCTTGACGGAAGTGATAAGCAG -3'

Sequencing Primer
(F):5'- GCTCACATTCCAGAAATGGAGG -3'
(R):5'- CAGGAACTTAGATGGACTGTTGC -3'

Posted On

2013-04-24