Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01904:Slf2'

179628

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slf2

Ensembl Gene

ENSMUSG00000036097

Gene Name

SMC5-SMC6 complex localization factor 2

Synonyms

Fam178a, 6030443O07Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.885) question?

Stock #

IGL01904

Quality Score

Status

Chromosome

Chromosomal Location

44931119-44983787 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 44949141 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000093758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096053]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083225

Predicted Effect

probably null
Transcript: ENSMUST00000096053

SMART Domains

Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
low complexity region	211	226	N/A	INTRINSIC
coiled coil region	239	266	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	549	568	N/A	INTRINSIC
low complexity region	572	582	N/A	INTRINSIC
low complexity region	601	616	N/A	INTRINSIC
Pfam:FAM178	647	1021	3.9e-146	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N22Rik	A	C	5: 11,921,456	N125T	probably benign	Het
Dnah5	T	C	15: 28,307,364	I1746T	probably benign	Het
Eml3	T	C	19: 8,936,766		probably benign	Het
Eml6	C	A	11: 29,838,613	E491*	probably null	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Hs3st2	C	T	7: 121,500,984	P351L	probably damaging	Het
Igf2r	A	T	17: 12,714,911	Y819N	probably damaging	Het
Kifc3	C	A	8: 95,137,957	A42S	possibly damaging	Het
Mrps17	A	G	5: 129,716,801	T20A	probably damaging	Het
Msh6	T	C	17: 87,984,732	V305A	probably benign	Het
Olfr449	T	C	6: 42,838,289	M136T	possibly damaging	Het
Olfr872	T	G	9: 20,260,290	M150R	probably damaging	Het
Pappa2	A	G	1: 158,783,941	L1484P	probably damaging	Het
Polr3c	A	T	3: 96,716,665		probably null	Het
Ros1	C	A	10: 52,077,911	E1877D	probably damaging	Het
Slc5a4b	T	C	10: 76,060,426	N565S	probably damaging	Het
Suclg2	A	T	6: 95,588,934		probably benign	Het
Sult2a8	T	C	7: 14,425,457	E79G	probably damaging	Het
Triobp	A	G	15: 78,967,364	T573A	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfand5	C	T	19: 21,279,758		probably benign	Het
Zfhx4	C	A	3: 5,412,709	H3461Q	probably damaging	Het

Other mutations in Slf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Slf2	APN	19	44973267	critical splice donor site	probably null
IGL02429:Slf2	APN	19	44941728	missense	probably benign
IGL02899:Slf2	APN	19	44942020	missense	probably benign	0.26
Evidentiary	UTSW	19	44938424	splice site	probably null
BB004:Slf2	UTSW	19	44935301	missense	probably damaging	0.97
BB014:Slf2	UTSW	19	44935301	missense	probably damaging	0.97
R0060:Slf2	UTSW	19	44948004	missense	probably damaging	1.00
R0731:Slf2	UTSW	19	44975726	splice site	probably benign
R1158:Slf2	UTSW	19	44931416	missense	probably damaging	0.99
R1590:Slf2	UTSW	19	44942073	nonsense	probably null
R1608:Slf2	UTSW	19	44949001	missense	probably benign	0.08
R1823:Slf2	UTSW	19	44935248	missense	possibly damaging	0.86
R2511:Slf2	UTSW	19	44941606	missense	possibly damaging	0.86
R3040:Slf2	UTSW	19	44980569	missense	probably damaging	0.99
R3236:Slf2	UTSW	19	44942334	missense	probably benign	0.33
R3237:Slf2	UTSW	19	44942334	missense	probably benign	0.33
R3552:Slf2	UTSW	19	44934951	nonsense	probably null
R3754:Slf2	UTSW	19	44973237	missense	probably benign
R4683:Slf2	UTSW	19	44935481	missense	probably benign	0.22
R4757:Slf2	UTSW	19	44935058	missense	probably benign
R4782:Slf2	UTSW	19	44934925	splice site	probably null
R4914:Slf2	UTSW	19	44971661	missense	probably damaging	0.96
R4915:Slf2	UTSW	19	44971661	missense	probably damaging	0.96
R4916:Slf2	UTSW	19	44971661	missense	probably damaging	0.96
R4917:Slf2	UTSW	19	44971661	missense	probably damaging	0.96
R4918:Slf2	UTSW	19	44971661	missense	probably damaging	0.96
R5069:Slf2	UTSW	19	44935253	missense	possibly damaging	0.94
R5092:Slf2	UTSW	19	44952084	missense	probably benign	0.14
R5215:Slf2	UTSW	19	44948037	missense	probably damaging	0.99
R5276:Slf2	UTSW	19	44935161	missense	possibly damaging	0.84
R5656:Slf2	UTSW	19	44973235	missense	probably benign	0.13
R6132:Slf2	UTSW	19	44960861	missense	possibly damaging	0.60
R6358:Slf2	UTSW	19	44935425	missense	probably benign	0.34
R6481:Slf2	UTSW	19	44973164	missense	probably benign	0.01
R6809:Slf2	UTSW	19	44943468	missense	probably damaging	0.98
R7263:Slf2	UTSW	19	44938424	splice site	probably null
R7912:Slf2	UTSW	19	44942243	missense	probably damaging	0.96
R7914:Slf2	UTSW	19	44959060	missense	possibly damaging	0.71
R7927:Slf2	UTSW	19	44935301	missense	probably damaging	0.97
R8006:Slf2	UTSW	19	44942317	missense	probably damaging	0.99
R8154:Slf2	UTSW	19	44935157	missense	possibly damaging	0.94
Z1176:Slf2	UTSW	19	44941665	nonsense	probably null

Posted On

2014-05-07