Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02212:Slu7'

285567

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 #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

43324571-43338808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43331469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 201 (Q201L)

Ref Sequence

ENSEMBL: ENSMUSP00000137281 (fasta)

Gene Model

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

AlphaFold

Q8BHJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000020681
AA Change: Q201L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000020681
Gene: ENSMUSG00000020409
AA Change: Q201L

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 benign
Transcript: ENSMUST00000151880
AA Change: Q201L

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

SMART Domains

Protein: ENSMUSP00000116609
Gene: ENSMUSG00000020409
AA Change: Q201L

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: Q201L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137281
Gene: ENSMUSG00000020409
AA Change: Q201L

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,079,233 (GRCm39)	D1079V	probably damaging	Het
Adam18	T	C	8: 25,127,195 (GRCm39)	H467R	probably benign	Het
Ambra1	T	G	2: 91,747,706 (GRCm39)	D1056E	probably damaging	Het
Aoah	A	C	13: 21,187,071 (GRCm39)	N456T	probably benign	Het
Batf2	T	A	19: 6,221,991 (GRCm39)	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,648,558 (GRCm39)	V397I	probably benign	Het
Bbs9	T	A	9: 22,723,808 (GRCm39)	D824E	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Brip1	A	T	11: 86,029,841 (GRCm39)	V601E	possibly damaging	Het
Bub1	A	G	2: 127,647,271 (GRCm39)	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345 (GRCm38)	D606E	possibly damaging	Het
Cenps	T	G	4: 149,213,303 (GRCm39)	D54A	probably damaging	Het
Cep170	T	A	1: 176,563,502 (GRCm39)	N1504I	probably damaging	Het
Cttnbp2	A	G	6: 18,382,748 (GRCm39)	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,052,091 (GRCm39)	S667T	probably benign	Het
Defa38	C	T	8: 21,585,276 (GRCm39)		probably benign	Het
Dgkb	A	G	12: 38,189,413 (GRCm39)	Y272C	probably damaging	Het
Dlx3	A	G	11: 95,011,467 (GRCm39)	D107G	probably benign	Het
Drd3	A	T	16: 43,582,675 (GRCm39)	N56I	probably benign	Het
Elavl4	T	A	4: 110,063,609 (GRCm39)	I331F	probably damaging	Het
Fam167a	T	G	14: 63,700,078 (GRCm39)	S213A	probably damaging	Het
Fasn	A	T	11: 120,698,729 (GRCm39)	I2489N	probably damaging	Het
Fbxo43	T	C	15: 36,151,957 (GRCm39)	K587E	probably damaging	Het
Fscn2	A	G	11: 120,252,881 (GRCm39)	D116G	probably damaging	Het
Galm	T	C	17: 80,457,546 (GRCm39)	V194A	probably benign	Het
Gpr180	T	A	14: 118,397,588 (GRCm39)	F361I	probably damaging	Het
Gpx2	A	T	12: 76,839,682 (GRCm39)	C105*	probably null	Het
Gsdmc2	A	T	15: 63,699,911 (GRCm39)		probably benign	Het
Hes2	T	G	4: 152,244,982 (GRCm39)	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,206,417 (GRCm39)		probably benign	Het
Inhbb	A	T	1: 119,345,713 (GRCm39)	V192D	probably benign	Het
Itgal	A	T	7: 126,900,152 (GRCm39)	M137L	probably benign	Het
Jak2	A	G	19: 29,265,382 (GRCm39)	N470D	probably benign	Het
Jph1	T	C	1: 17,161,981 (GRCm39)	E227G	probably damaging	Het
Kcnj6	A	T	16: 94,633,346 (GRCm39)	I237N	probably damaging	Het
Kctd8	G	T	5: 69,498,031 (GRCm39)	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,297,540 (GRCm39)	N37I	probably damaging	Het
Lrp2	T	A	2: 69,281,608 (GRCm39)	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,664,245 (GRCm39)		probably benign	Het
Man2a2	A	C	7: 80,012,056 (GRCm39)	D700E	probably benign	Het
Mast1	A	T	8: 85,648,026 (GRCm39)	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Mptx2	T	A	1: 173,102,248 (GRCm39)	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,351,124 (GRCm39)		probably null	Het
Mup21	T	G	4: 62,066,829 (GRCm39)	E137A	probably damaging	Het
Mutyh	T	A	4: 116,672,803 (GRCm39)	V52D	probably damaging	Het
Nalcn	T	A	14: 123,752,742 (GRCm39)	S340C	probably damaging	Het
Neb	A	G	2: 52,198,323 (GRCm39)	Y474H	probably damaging	Het
Nol8	A	G	13: 49,815,626 (GRCm39)	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,480,711 (GRCm39)	D145G	possibly damaging	Het
Nup93	G	A	8: 95,038,290 (GRCm39)		probably null	Het
Or1j17	A	G	2: 36,578,194 (GRCm39)	Y60C	probably damaging	Het
Or2n1b	C	A	17: 38,459,746 (GRCm39)	T89K	probably benign	Het
Or2y14	A	T	11: 49,404,737 (GRCm39)	I91F	probably damaging	Het
Or52b2	C	T	7: 104,986,350 (GRCm39)	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,489,465 (GRCm39)	V40E	possibly damaging	Het
Peg3	C	T	7: 6,714,415 (GRCm39)	R269H	probably benign	Het
Piwil1	T	A	5: 128,827,334 (GRCm39)	F648I	possibly damaging	Het
Psd4	A	T	2: 24,295,326 (GRCm39)	K827*	probably null	Het
Retsat	T	A	6: 72,578,693 (GRCm39)	L135*	probably null	Het
Rtp3	A	G	9: 110,816,389 (GRCm39)		probably benign	Het
Samd14	A	G	11: 94,914,176 (GRCm39)	Y305C	probably damaging	Het
Satb1	T	A	17: 52,082,319 (GRCm39)	Q445L	possibly damaging	Het
Shbg	A	G	11: 69,508,035 (GRCm39)	L110P	probably damaging	Het
Slc17a6	T	A	7: 51,317,218 (GRCm39)	I413N	possibly damaging	Het
Spg11	T	C	2: 121,938,638 (GRCm39)	T439A	probably benign	Het
Sstr5	A	T	17: 25,710,647 (GRCm39)	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,116,150 (GRCm39)	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Ttll8	C	A	15: 88,801,450 (GRCm39)	V413L	probably benign	Het
Wiz	T	C	17: 32,587,109 (GRCm39)	D67G	probably 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
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
R9552:Slu7	UTSW	11	43,329,095 (GRCm39)	missense	probably benign	0.45

Posted On

2015-04-16