Mutagenetix > Incidental Mutation

Incidental Mutation 'R9552:Slu7'

720562

Institutional Source

Beutler Lab

Gene Symbol

Slu7

Ensembl Gene

ENSMUSG00000020409

Gene Name

SLU7 splicing factor homolog (S. cerevisiae)

Synonyms

D3Bwg0878e, D11Ertd730e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43324571-43338808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43329095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 106 (V106I)

Ref Sequence

ENSEMBL: ENSMUSP00000020681 (fasta)

Gene Model

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

AlphaFold

Q8BHJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000020681
AA Change: V106I

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409
AA Change: V106I

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
AA Change: V106I

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122142
Gene: ENSMUSG00000020409
AA Change: V106I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151880
AA Change: V106I

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409
AA Change: V106I

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: V106I

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409
AA Change: V106I

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: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abhd6	T	C	14: 8,028,329 (GRCm38)	I20T	possibly damaging	Het
Adamts1	A	G	16: 85,599,505 (GRCm39)	S32P	probably benign	Het
Ak7	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	12: 105,676,448 (GRCm39)		probably benign	Het
Arhgap21	A	T	2: 20,886,397 (GRCm39)	V270E	probably damaging	Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Cnbp	A	G	6: 87,822,108 (GRCm39)	Y139H	probably damaging	Het
Csmd3	T	A	15: 48,655,356 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,172,246 (GRCm39)	V387A	probably damaging	Het
Cyp2j7	C	T	4: 96,115,840 (GRCm39)	R202H	probably damaging	Het
Edrf1	A	G	7: 133,240,742 (GRCm39)	D73G	probably damaging	Het
Ercc6	C	T	14: 32,284,525 (GRCm39)	R763C	probably damaging	Het
Gm8159	T	A	14: 15,850,264 (GRCm39)	I161K	probably damaging	Het
Gramd1c	A	T	16: 43,807,294 (GRCm39)	M356K	probably damaging	Het
Has2	T	C	15: 56,531,090 (GRCm39)	K542E	probably benign	Het
Hipk3	T	C	2: 104,301,850 (GRCm39)	N114S	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Kcnh5	T	C	12: 75,023,334 (GRCm39)	Y578C	probably benign	Het
Lctl	A	G	9: 64,025,049 (GRCm39)	I12V	probably benign	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mef2c	A	G	13: 83,810,461 (GRCm39)	N371S	probably benign	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Ndst1	G	T	18: 60,845,931 (GRCm39)	T126K	probably damaging	Het
Nid1	T	A	13: 13,677,045 (GRCm39)	I995N	probably damaging	Het
Nr2e1	A	T	10: 42,447,487 (GRCm39)	M175K	probably benign	Het
Nrxn1	T	C	17: 90,937,450 (GRCm39)	K669R	probably damaging	Het
Or5d14	C	T	2: 87,880,509 (GRCm39)	W153*	probably null	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Pkn2	T	C	3: 142,499,594 (GRCm39)	D977G	probably damaging	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rapgef4	A	G	2: 72,008,561 (GRCm39)	I246M	probably benign	Het
Rnasel	T	A	1: 153,630,673 (GRCm39)	N396K	possibly damaging	Het
Scaf1	A	G	7: 44,658,351 (GRCm39)	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,033,974 (GRCm39)	A78E	probably benign	Het
Scgb2b19	A	G	7: 32,979,198 (GRCm39)	F28S	probably damaging	Het
Skint5	C	T	4: 113,798,052 (GRCm39)	C177Y	possibly damaging	Het
Slitrk5	C	T	14: 111,916,496 (GRCm39)	T40I	probably benign	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Stc2	A	G	11: 31,310,332 (GRCm39)	S235P	probably benign	Het
Stt3a	T	C	9: 36,645,675 (GRCm39)	D672G	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tcf15	T	C	2: 151,986,039 (GRCm39)	L165P	probably damaging	Het
Tgm1	T	C	14: 55,950,933 (GRCm39)		probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmco4	G	A	4: 138,779,895 (GRCm39)	V447M	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Unc80	A	G	1: 66,717,282 (GRCm39)	D2946G	possibly damaging	Het
Vmn1r82	A	G	7: 12,039,600 (GRCm39)	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Wdr49	T	C	3: 75,230,931 (GRCm39)	D577G	probably benign	Het
Wnt10b	C	A	15: 98,670,713 (GRCm39)	G272W	probably damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp512	G	A	5: 31,623,676 (GRCm39)	C14Y	probably benign	Het
Zfp658	G	T	7: 43,222,567 (GRCm39)	V281F	probably benign	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
R4084:Slu7	UTSW	11	43,334,218 (GRCm39)	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- TGTGCTCACTACCTTTGTGG -3'
(R):5'- CCTTCATGTTCTGAGATGACCAAG -3'

Sequencing Primer
(F):5'- CCTTTGTGGTTAAAATGCCATTTTC -3'
(R):5'- CAGGGTCACACAATACCT -3'

Posted On

2022-08-09