Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Slu7'

302413

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slu7

Ensembl Gene

ENSMUSG00000020409

Gene Name

SLU7 splicing factor homolog (S. cerevisiae)

Synonyms

D3Bwg0878e, D11Ertd730e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

43433744-43447981 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 43442022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020681] [ENSMUST00000126128] [ENSMUST00000151880] [ENSMUST00000178622]

AlphaFold

Q8BHJ9

Predicted Effect

probably null
Transcript: ENSMUST00000020681

SMART Domains

Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
ZnF_C2HC	119	135	4.08e-1	SMART
Pfam:Slu7	160	434	1.3e-90	PFAM
coiled coil region	484	543	N/A	INTRINSIC
low complexity region	555	570	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126128

SMART Domains

Protein: ENSMUSP00000122142
Gene: ENSMUSG00000020409

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149402

Predicted Effect

probably null
Transcript: ENSMUST00000151880

SMART Domains

Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
ZnF_C2HC	119	135	4.08e-1	SMART
Pfam:Slu7	160	434	2.4e-91	PFAM
low complexity region	486	497	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000178622

SMART Domains

Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
ZnF_C2HC	119	135	4.08e-1	SMART
Pfam:Slu7	161	434	1.6e-112	PFAM
coiled coil region	484	543	N/A	INTRINSIC
low complexity region	555	570	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	probably damaging	Het

Other mutations in Slu7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01886:Slu7	APN	11	43439260	missense	probably damaging	1.00
IGL02212:Slu7	APN	11	43440642	missense	probably benign	0.05
IGL02671:Slu7	APN	11	43445475	splice site	probably null
IGL02702:Slu7	APN	11	43438892	splice site	probably benign
IGL02720:Slu7	APN	11	43445203	missense	probably benign	0.00
IGL02831:Slu7	APN	11	43442653	nonsense	probably null
IGL03104:Slu7	APN	11	43442056	missense	probably benign	0.36
IGL03106:Slu7	APN	11	43442630	missense	possibly damaging	0.46
R0571:Slu7	UTSW	11	43441578	critical splice donor site	probably null
R1498:Slu7	UTSW	11	43438217	missense	possibly damaging	0.78
R1753:Slu7	UTSW	11	43439268	missense	probably benign	0.40
R1789:Slu7	UTSW	11	43445242	missense	probably benign	0.00
R2655:Slu7	UTSW	11	43440648	missense	probably benign	0.03
R2941:Slu7	UTSW	11	43444757	missense	probably benign	0.06
R3916:Slu7	UTSW	11	43440684	splice site	probably null
R3917:Slu7	UTSW	11	43440684	splice site	probably null
R4084:Slu7	UTSW	11	43443391	missense	probably benign	0.03
R4393:Slu7	UTSW	11	43439269	missense	possibly damaging	0.89
R5656:Slu7	UTSW	11	43443418	missense	probably benign	0.03
R5884:Slu7	UTSW	11	43443418	missense	probably benign	0.03
R6320:Slu7	UTSW	11	43441489	missense	probably benign	0.22
R6517:Slu7	UTSW	11	43438148	missense	probably damaging	1.00
R7763:Slu7	UTSW	11	43444765	missense	probably damaging	1.00
R7893:Slu7	UTSW	11	43444836	splice site	probably null
R8023:Slu7	UTSW	11	43446148	missense	probably benign	0.23
R8251:Slu7	UTSW	11	43439301	missense	probably damaging	1.00
R8481:Slu7	UTSW	11	43437493	missense	probably damaging	0.99
R8481:Slu7	UTSW	11	43437494	missense	probably damaging	0.98
R8733:Slu7	UTSW	11	43443340	missense	probably damaging	1.00
R8971:Slu7	UTSW	11	43442653	missense	probably benign
R9046:Slu7	UTSW	11	43444802	missense	probably damaging	1.00
R9069:Slu7	UTSW	11	43438125	missense	probably damaging	1.00
R9184:Slu7	UTSW	11	43443397	missense	probably damaging	1.00
R9499:Slu7	UTSW	11	43438268	missense	probably benign	0.45
R9552:Slu7	UTSW	11	43438268	missense	probably benign	0.45

Posted On

2015-04-16