Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02479:Slx9'

295081

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slx9

Ensembl Gene

ENSMUSG00000032977

Gene Name

SLX9 ribosome biogenesis factor

Synonyms

1810008A18Rik, Fam207a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

77322495-77351619 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77350161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 76 (S76G)

Ref Sequence

ENSEMBL: ENSMUSP00000036382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045454] [ENSMUST00000218414]

AlphaFold

P58468

Predicted Effect

probably damaging
Transcript: ENSMUST00000045454
AA Change: S76G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036382
Gene: ENSMUSG00000032977
AA Change: S76G

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Pfam:SLX9	87	210	8e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180790

Predicted Effect

probably benign
Transcript: ENSMUST00000218414
AA Change: S57G

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,639,461 (GRCm39)	Y528C	probably damaging	Het
Adam24	T	A	8: 41,132,571 (GRCm39)	I13N	probably benign	Het
Arsj	T	C	3: 126,232,588 (GRCm39)	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,683,373 (GRCm39)	T31I	possibly damaging	Het
Cask	A	T	X: 13,423,297 (GRCm39)	D502E	probably damaging	Het
Cenpl	T	A	1: 160,910,637 (GRCm39)	S195T	probably benign	Het
Clhc1	T	A	11: 29,528,107 (GRCm39)	I545N	probably damaging	Het
Clrn2	T	C	5: 45,621,254 (GRCm39)	I216T	probably benign	Het
Csf2rb	C	T	15: 78,225,924 (GRCm39)	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,727,477 (GRCm39)	D284G	probably benign	Het
Dgka	T	C	10: 128,566,115 (GRCm39)	E345G	probably benign	Het
Dync1i2	G	A	2: 71,066,323 (GRCm39)	V128I	probably damaging	Het
Eno3	T	A	11: 70,551,714 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,422,147 (GRCm39)	I347K	probably benign	Het
F8	A	T	X: 74,331,846 (GRCm39)	N681K	probably damaging	Het
Fancm	T	A	12: 65,153,259 (GRCm39)	D1238E	probably damaging	Het
Fcna	T	A	2: 25,515,272 (GRCm39)	Q237L	probably benign	Het
Fpr2	A	T	17: 18,113,074 (GRCm39)	R23S	probably benign	Het
Frmd3	A	G	4: 74,105,752 (GRCm39)	D466G	probably benign	Het
Gen1	C	A	12: 11,291,936 (GRCm39)	V618L	probably benign	Het
Gja4	T	C	4: 127,206,217 (GRCm39)	E182G	probably benign	Het
Gsdmc	T	A	15: 63,649,824 (GRCm39)	I356F	possibly damaging	Het
Kctd19	T	C	8: 106,111,400 (GRCm39)	D102G	probably damaging	Het
Lrit2	T	C	14: 36,794,235 (GRCm39)	L433P	probably damaging	Het
Lrp2	G	A	2: 69,295,145 (GRCm39)		probably benign	Het
Luc7l3	G	A	11: 94,187,735 (GRCm39)		probably benign	Het
Map3k5	T	A	10: 19,932,230 (GRCm39)	L458Q	probably damaging	Het
Mast4	A	G	13: 102,878,545 (GRCm39)	S1038P	probably damaging	Het
Med12	A	T	X: 100,340,598 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,555,041 (GRCm39)	L888M	probably damaging	Het
Nova1	A	T	12: 46,863,701 (GRCm39)	I83N	unknown	Het
Obscn	A	G	11: 58,947,053 (GRCm39)		probably benign	Het
Or11q2	T	C	X: 48,772,742 (GRCm39)	V121A	probably benign	Het
Or4d10c	T	A	19: 12,065,269 (GRCm39)	M296L	probably benign	Het
Or4f15	A	C	2: 111,813,730 (GRCm39)	S230A	probably benign	Het
Or6k2	C	A	1: 173,986,520 (GRCm39)	Y60*	probably null	Het
Pde2a	A	G	7: 101,150,290 (GRCm39)	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,288,215 (GRCm39)	K1062*	probably null	Het
Phc1	A	T	6: 122,300,676 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,863,730 (GRCm39)	S764T	probably benign	Het
Pmp2	T	G	3: 10,247,262 (GRCm39)	R89S	probably benign	Het
Prdm2	A	G	4: 142,861,499 (GRCm39)	L597P	probably damaging	Het
Rfx6	T	A	10: 51,554,424 (GRCm39)	D88E	probably benign	Het
Rgs9	T	C	11: 109,116,478 (GRCm39)	S442G	possibly damaging	Het
Ror2	C	T	13: 53,285,968 (GRCm39)	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,868,852 (GRCm39)	A986E	possibly damaging	Het
Slc5a5	T	A	8: 71,341,555 (GRCm39)	M325L	possibly damaging	Het
Sppl2c	G	A	11: 104,077,763 (GRCm39)	V188I	probably benign	Het
Srrm3	G	T	5: 135,864,103 (GRCm39)	C67F	probably damaging	Het
Stk31	A	G	6: 49,398,622 (GRCm39)	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476 (GRCm39)	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Trav8d-1	T	C	14: 53,016,257 (GRCm39)	S48P	probably benign	Het
Vrk1	A	T	12: 106,017,261 (GRCm39)	Q95L	probably benign	Het
Wdr25	C	A	12: 108,864,527 (GRCm39)	T224K	probably benign	Het
Wdr37	A	T	13: 8,892,820 (GRCm39)	H224Q	probably damaging	Het
Zhx1	C	T	15: 57,917,767 (GRCm39)	E160K	probably damaging	Het

Other mutations in Slx9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1468:Slx9	UTSW	10	77,333,360 (GRCm39)	splice site	probably benign
R4050:Slx9	UTSW	10	77,350,164 (GRCm39)	missense	possibly damaging	0.86
R4654:Slx9	UTSW	10	77,325,860 (GRCm39)	missense	possibly damaging	0.95
R4996:Slx9	UTSW	10	77,351,367 (GRCm39)	missense	probably null
R5001:Slx9	UTSW	10	77,325,850 (GRCm39)	missense	probably benign
R7044:Slx9	UTSW	10	77,350,226 (GRCm39)	missense	possibly damaging	0.90
R8088:Slx9	UTSW	10	77,350,229 (GRCm39)	missense	probably benign	0.00
R8995:Slx9	UTSW	10	77,333,303 (GRCm39)	nonsense	probably null
R9299:Slx9	UTSW	10	77,351,535 (GRCm39)	missense	possibly damaging	0.72
Z1088:Slx9	UTSW	10	77,325,865 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16