Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Slu7'

309761

Institutional Source

Beutler Lab

Gene Symbol

Slu7

Ensembl Gene

ENSMUSG00000020409

Gene Name

SLU7 splicing factor homolog (S. cerevisiae)

Synonyms

D3Bwg0878e, D11Ertd730e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43433744-43447981 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 43440684 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly 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
IGL02657:Slu7	APN	11	43442022	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CCTACAGCTAGCTCTAAGGACC -3'
(R):5'- TGTCCCAAGCACATACACTCTG -3'

Sequencing Primer
(F):5'- GAACTCACTTGTAGACCATGCTGG -3'
(R):5'- AACACTGAGTTGCTTGGAGC -3'

Posted On

2015-04-17