Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02207:Syf2'

284570

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syf2

Ensembl Gene

ENSMUSG00000028821

Gene Name

SYF2 homolog, RNA splicing factor (S. cerevisiae)

Synonyms

Ntc31, Cbpin, 1110018L13Rik, mp29, D4Bwg1551e, p29, Gcipip

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

134658291-134664848 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 134662363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030622]

AlphaFold

Q9D198

Predicted Effect

probably null
Transcript: ENSMUST00000030622

SMART Domains

Protein: ENSMUSP00000030622
Gene: ENSMUSG00000028821

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
Pfam:SYF2	89	237	9.8e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156334

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele fail to undergo normal gastrulation and exhibit complete embryonic lethality, severely impaired embryonic development, and abnormal cell cycle checkpoint function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,992,993 (GRCm39)	E702G	probably damaging	Het
Adgre5	T	C	8: 84,454,913 (GRCm39)	T260A	probably damaging	Het
Agap3	A	T	5: 24,704,934 (GRCm39)	T660S	probably benign	Het
Amotl2	A	T	9: 102,601,896 (GRCm39)	E380V	probably damaging	Het
Ap4e1	A	G	2: 126,853,736 (GRCm39)	E58G	probably damaging	Het
Arap3	G	A	18: 38,120,906 (GRCm39)	A713V	probably benign	Het
B4galt2	T	C	4: 117,738,718 (GRCm39)	D33G	probably damaging	Het
Bbs7	A	T	3: 36,658,639 (GRCm39)	S212T	probably benign	Het
Ccl26	A	G	5: 135,592,224 (GRCm39)	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261 (GRCm39)	S339C	probably benign	Het
Cd55	A	G	1: 130,380,156 (GRCm39)	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,074,577 (GRCm39)		probably null	Het
Cert1	T	C	13: 96,761,300 (GRCm39)		probably null	Het
Chrnb4	T	C	9: 54,942,500 (GRCm39)	D258G	probably damaging	Het
Commd3	T	C	2: 18,678,819 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,381,180 (GRCm39)	R59L	probably damaging	Het
Edar	G	T	10: 58,446,343 (GRCm39)	T194K	probably damaging	Het
Edem3	A	G	1: 151,684,111 (GRCm39)	I733V	possibly damaging	Het
Elmod2	T	C	8: 84,048,135 (GRCm39)	Y109C	probably benign	Het
Eps15	C	T	4: 109,161,945 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,005,412 (GRCm39)	V1937A	probably benign	Het
Fdx2	T	A	9: 20,979,415 (GRCm39)		probably null	Het
Flg2	A	T	3: 93,127,435 (GRCm39)	I2116F	unknown	Het
Gm15091	A	G	X: 148,760,462 (GRCm39)	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,791,823 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,311,947 (GRCm39)	V60M	possibly damaging	Het
Grip1	G	A	10: 119,911,214 (GRCm39)	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,482,390 (GRCm39)	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,669,403 (GRCm39)	A294V	probably benign	Het
Herc4	G	A	10: 63,135,023 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,274,572 (GRCm39)	Y748C	probably benign	Het
Il20ra	A	G	10: 19,627,326 (GRCm39)	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,419,536 (GRCm39)		probably null	Het
Kif18a	A	T	2: 109,127,052 (GRCm39)	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,758,979 (GRCm39)	I957F	probably damaging	Het
Krt1	A	G	15: 101,757,051 (GRCm39)	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,379,434 (GRCm39)	V1768G	probably damaging	Het
Nek9	A	T	12: 85,350,257 (GRCm39)	L939*	probably null	Het
Nfe2l2	A	G	2: 75,508,869 (GRCm39)	L122P	probably damaging	Het
Nin	T	C	12: 70,103,431 (GRCm39)	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,097,190 (GRCm39)	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,287,927 (GRCm39)	M71V	probably benign	Het
Ocstamp	T	C	2: 165,239,583 (GRCm39)	H201R	possibly damaging	Het
Oog4	T	C	4: 143,165,510 (GRCm39)	I212M	probably benign	Het
Or11g2	G	A	14: 50,856,015 (GRCm39)	G112D	probably damaging	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Osmr	T	C	15: 6,876,628 (GRCm39)	T99A	probably benign	Het
Pdia4	A	T	6: 47,773,741 (GRCm39)	M536K	probably benign	Het
Pdyn	A	T	2: 129,530,438 (GRCm39)	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,290,837 (GRCm39)		probably null	Het
Plcb1	A	G	2: 135,229,091 (GRCm39)	E1105G	probably damaging	Het
Rb1	A	T	14: 73,443,525 (GRCm39)	D743E	probably damaging	Het
Rdh14	G	A	12: 10,444,712 (GRCm39)	V188I	possibly damaging	Het
Scd3	T	C	19: 44,204,028 (GRCm39)	V72A	possibly damaging	Het
Shld1	A	T	2: 132,533,866 (GRCm39)		probably benign	Het
Slc25a27	G	A	17: 43,972,575 (GRCm39)	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,704,640 (GRCm39)	D394G	possibly damaging	Het
Slco1a8	A	T	6: 141,936,158 (GRCm39)	I309N	possibly damaging	Het
Snx29	T	G	16: 11,556,216 (GRCm39)	M407R	probably damaging	Het
Syn1	T	C	X: 20,731,376 (GRCm39)	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,905,091 (GRCm39)	D602V	probably damaging	Het
Tenm4	A	T	7: 96,523,323 (GRCm39)	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785 (GRCm39)		probably benign	Het
Trav6-2	G	A	14: 52,904,889 (GRCm39)	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,272,813 (GRCm39)	S53P	probably benign	Het
Vmp1	T	A	11: 86,498,019 (GRCm39)	I299F	possibly damaging	Het
Xpot	T	C	10: 121,449,485 (GRCm39)	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,345,525 (GRCm39)		probably null	Het

Other mutations in Syf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0839:Syf2	UTSW	4	134,663,374 (GRCm39)	missense	probably damaging	0.97
R1475:Syf2	UTSW	4	134,662,745 (GRCm39)	missense	possibly damaging	0.52
R4673:Syf2	UTSW	4	134,661,804 (GRCm39)	missense	probably damaging	1.00
R4954:Syf2	UTSW	4	134,662,283 (GRCm39)	nonsense	probably null
R5309:Syf2	UTSW	4	134,663,380 (GRCm39)	missense	probably benign	0.35
R6256:Syf2	UTSW	4	134,661,889 (GRCm39)	missense	probably damaging	0.98
R8141:Syf2	UTSW	4	134,664,182 (GRCm39)	missense	probably damaging	1.00
R8334:Syf2	UTSW	4	134,658,586 (GRCm39)	missense	probably benign	0.16
R9266:Syf2	UTSW	4	134,663,321 (GRCm39)	missense	possibly damaging	0.55
Z1176:Syf2	UTSW	4	134,664,275 (GRCm39)	missense	probably benign	0.29

Posted On

2015-04-16