Mutagenetix > Incidental Mutation

Incidental Mutation 'R4084:Slu7'

317038

Institutional Source

Beutler Lab

Gene Symbol

Slu7

Ensembl Gene

ENSMUSG00000020409

Gene Name

SLU7 splicing factor homolog (S. cerevisiae)

Synonyms

D3Bwg0878e, D11Ertd730e

MMRRC Submission

040857-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43324571-43338808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43334218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 415 (A415T)

Ref Sequence

ENSEMBL: ENSMUSP00000116609 (fasta)

Gene Model

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

AlphaFold

Q8BHJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000020681
AA Change: A415T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409
AA Change: A415T

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

noncoding transcript
Transcript: ENSMUST00000136541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149402

Predicted Effect

probably benign
Transcript: ENSMUST00000151880
AA Change: A415T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409
AA Change: A415T

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 benign
Transcript: ENSMUST00000178622
AA Change: A415T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409
AA Change: A415T

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl2	A	T	9: 102,601,884 (GRCm39)		probably null	Het
Arhgdig	T	C	17: 26,418,799 (GRCm39)	D114G	possibly damaging	Het
Btnl1	C	T	17: 34,600,133 (GRCm39)	T212I	possibly damaging	Het
Camkk1	C	T	11: 72,928,691 (GRCm39)	T410I	probably damaging	Het
Capn13	C	T	17: 73,644,444 (GRCm39)	G362R	probably benign	Het
Catsperd	A	G	17: 56,961,453 (GRCm39)	T392A	probably benign	Het
Ccdc180	A	G	4: 45,950,632 (GRCm39)	I1626V	probably benign	Het
Cdon	C	A	9: 35,389,427 (GRCm39)	T844K	probably damaging	Het
Col28a1	G	A	6: 8,013,131 (GRCm39)	Q974*	probably null	Het
Col28a1	C	G	6: 8,013,132 (GRCm39)	K973N	possibly damaging	Het
Dnhd1	T	C	7: 105,358,795 (GRCm39)	L3428P	probably damaging	Het
Ecm1	A	T	3: 95,641,676 (GRCm39)	N519K	probably damaging	Het
Fbxw11	T	C	11: 32,689,248 (GRCm39)	V457A	probably damaging	Het
Flna	C	T	X: 73,280,531 (GRCm39)	V1009M	possibly damaging	Het
Fmnl2	A	T	2: 52,997,507 (GRCm39)	K486I	possibly damaging	Het
Gja1	A	C	10: 56,264,607 (GRCm39)	Q322P	possibly damaging	Het
Gtpbp3	A	G	8: 71,943,156 (GRCm39)	Q189R	probably benign	Het
H2-Eb1	T	C	17: 34,533,417 (GRCm39)	V213A	probably damaging	Het
Herc4	G	T	10: 63,119,016 (GRCm39)	G322V	probably damaging	Het
Hgf	G	T	5: 16,820,856 (GRCm39)	G668*	probably null	Het
Htra1	T	C	7: 130,538,074 (GRCm39)	S25P	probably benign	Het
Ifi44	A	G	3: 151,451,126 (GRCm39)		probably null	Het
Klhl24	T	A	16: 19,933,312 (GRCm39)	S308T	probably damaging	Het
Lamb2	A	G	9: 108,365,217 (GRCm39)	N1291S	probably benign	Het
Lgals9	A	T	11: 78,860,589 (GRCm39)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,686,250 (GRCm39)	I634N	probably damaging	Het
Lipn	T	C	19: 34,056,340 (GRCm39)	F229L	probably benign	Het
Lmtk3	T	A	7: 45,442,716 (GRCm39)	S466R	probably damaging	Het
Lonrf2	G	A	1: 38,860,232 (GRCm39)	T22I	probably benign	Het
Macf1	T	C	4: 123,343,865 (GRCm39)	H2119R	probably damaging	Het
Muc6	C	T	7: 141,234,920 (GRCm39)	C634Y	probably damaging	Het
Nap1l1	G	A	10: 111,325,938 (GRCm39)	V86I	possibly damaging	Het
Noxred1	A	G	12: 87,280,258 (GRCm39)	Y25H	possibly damaging	Het
Nphp4	T	C	4: 152,573,248 (GRCm39)	L62P	probably damaging	Het
Or11h6	T	A	14: 50,880,305 (GRCm39)	I189N	probably damaging	Het
Or2b2	G	A	13: 21,887,238 (GRCm39)	W22*	probably null	Het
Or2b2	C	A	13: 21,887,239 (GRCm39)	L23M	probably damaging	Het
Or52ab4	T	G	7: 102,987,527 (GRCm39)	F89V	probably damaging	Het
Pcdh10	A	C	3: 45,347,142 (GRCm39)	D979A	probably damaging	Het
Pla2g4f	C	G	2: 120,142,806 (GRCm39)	Q101H	probably benign	Het
Ppp1r15b	T	C	1: 133,060,805 (GRCm39)	F441L	probably damaging	Het
Prkaca	C	A	8: 84,721,939 (GRCm39)	P309T	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ripor3	A	G	2: 167,826,386 (GRCm39)	Y720H	possibly damaging	Het
Rpgrip1	A	G	14: 52,386,808 (GRCm39)	E751G	possibly damaging	Het
Rsf1	GCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,126 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,253 (GRCm39)	S686P	probably damaging	Het
Seh1l	T	C	18: 67,921,860 (GRCm39)	V240A	possibly damaging	Het
Slc10a2	T	G	8: 5,139,126 (GRCm39)	I273L	possibly damaging	Het
Slc23a2	A	T	2: 131,933,137 (GRCm39)	L107*	probably null	Het
Slc44a4	T	C	17: 35,136,323 (GRCm39)	L38P	probably damaging	Het
Slc6a18	C	T	13: 73,815,148 (GRCm39)	V387I	probably benign	Het
Tlr5	A	T	1: 182,802,413 (GRCm39)	R572S	possibly damaging	Het
Tmem45a2	C	T	16: 56,891,387 (GRCm39)	G3D	probably benign	Het
Trim24	A	G	6: 37,892,192 (GRCm39)	T242A	probably damaging	Het
Triobp	T	A	15: 78,857,871 (GRCm39)	N1157K	probably benign	Het
Ugt1a6a	A	T	1: 88,066,899 (GRCm39)	D235V	probably benign	Het
Vmn2r37	C	T	7: 9,218,984 (GRCm39)	V467I	probably benign	Het
Vmn2r7	C	T	3: 64,600,414 (GRCm39)	E495K	probably benign	Het
Vstm2a	A	G	11: 16,213,098 (GRCm39)	E161G	probably damaging	Het
Ypel3	T	C	7: 126,377,537 (GRCm39)	V74A	possibly damaging	Het
Zfp1005	T	A	2: 150,108,122 (GRCm39)	N27K	possibly damaging	Het
Zfp27	C	T	7: 29,594,792 (GRCm39)	R391H	possibly damaging	Het

Other mutations in Slu7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01886:Slu7	APN	11	43,330,087 (GRCm39)	missense	probably damaging	1.00
IGL02212:Slu7	APN	11	43,331,469 (GRCm39)	missense	probably benign	0.05
IGL02657:Slu7	APN	11	43,332,849 (GRCm39)	splice site	probably null
IGL02671:Slu7	APN	11	43,336,302 (GRCm39)	splice site	probably null
IGL02702:Slu7	APN	11	43,329,719 (GRCm39)	splice site	probably benign
IGL02720:Slu7	APN	11	43,336,030 (GRCm39)	missense	probably benign	0.00
IGL02831:Slu7	APN	11	43,333,480 (GRCm39)	nonsense	probably null
IGL03104:Slu7	APN	11	43,332,883 (GRCm39)	missense	probably benign	0.36
IGL03106:Slu7	APN	11	43,333,457 (GRCm39)	missense	possibly damaging	0.46
R0571:Slu7	UTSW	11	43,332,405 (GRCm39)	critical splice donor site	probably null
R1498:Slu7	UTSW	11	43,329,044 (GRCm39)	missense	possibly damaging	0.78
R1753:Slu7	UTSW	11	43,330,095 (GRCm39)	missense	probably benign	0.40
R1789:Slu7	UTSW	11	43,336,069 (GRCm39)	missense	probably benign	0.00
R2655:Slu7	UTSW	11	43,331,475 (GRCm39)	missense	probably benign	0.03
R2941:Slu7	UTSW	11	43,335,584 (GRCm39)	missense	probably benign	0.06
R3916:Slu7	UTSW	11	43,331,511 (GRCm39)	splice site	probably null
R3917:Slu7	UTSW	11	43,331,511 (GRCm39)	splice site	probably null
R4393:Slu7	UTSW	11	43,330,096 (GRCm39)	missense	possibly damaging	0.89
R5656:Slu7	UTSW	11	43,334,245 (GRCm39)	missense	probably benign	0.03
R5884:Slu7	UTSW	11	43,334,245 (GRCm39)	missense	probably benign	0.03
R6320:Slu7	UTSW	11	43,332,316 (GRCm39)	missense	probably benign	0.22
R6517:Slu7	UTSW	11	43,328,975 (GRCm39)	missense	probably damaging	1.00
R7763:Slu7	UTSW	11	43,335,592 (GRCm39)	missense	probably damaging	1.00
R7893:Slu7	UTSW	11	43,335,663 (GRCm39)	splice site	probably null
R8023:Slu7	UTSW	11	43,336,975 (GRCm39)	missense	probably benign	0.23
R8251:Slu7	UTSW	11	43,330,128 (GRCm39)	missense	probably damaging	1.00
R8481:Slu7	UTSW	11	43,328,321 (GRCm39)	missense	probably damaging	0.98
R8481:Slu7	UTSW	11	43,328,320 (GRCm39)	missense	probably damaging	0.99
R8733:Slu7	UTSW	11	43,334,167 (GRCm39)	missense	probably damaging	1.00
R8971:Slu7	UTSW	11	43,333,480 (GRCm39)	missense	probably benign
R9046:Slu7	UTSW	11	43,335,629 (GRCm39)	missense	probably damaging	1.00
R9069:Slu7	UTSW	11	43,328,952 (GRCm39)	missense	probably damaging	1.00
R9184:Slu7	UTSW	11	43,334,224 (GRCm39)	missense	probably damaging	1.00
R9499:Slu7	UTSW	11	43,329,095 (GRCm39)	missense	probably benign	0.45
R9552:Slu7	UTSW	11	43,329,095 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- GGGAAACTTCTTATTTACCCGGAAAG -3'
(R):5'- ATTCTGGGTAAGCATGCAGATG -3'

Sequencing Primer
(F):5'- CTTTAGTACGGTGGCCA -3'
(R):5'- ATGGTCAGCCTGCTCAA -3'

Posted On

2015-05-15