Mutagenetix > Incidental Mutation

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

6030443O07Rik, Fam178a

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

IGL01904

Quality Score

Status

Chromosome

Chromosomal Location

44919590-44971738 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 44937580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000093758 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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
Dnah5	T	C	15: 28,307,510 (GRCm39)	I1746T	probably benign	Het
Eml3	T	C	19: 8,914,130 (GRCm39)		probably benign	Het
Eml6	C	A	11: 29,788,613 (GRCm39)	E491*	probably null	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hs3st2	C	T	7: 121,100,207 (GRCm39)	P351L	probably damaging	Het
Igf2r	A	T	17: 12,933,798 (GRCm39)	Y819N	probably damaging	Het
Kifc3	C	A	8: 95,864,585 (GRCm39)	A42S	possibly damaging	Het
Mrps17	A	G	5: 129,793,865 (GRCm39)	T20A	probably damaging	Het
Msh6	T	C	17: 88,292,160 (GRCm39)	V305A	probably benign	Het
Or6b1	T	C	6: 42,815,223 (GRCm39)	M136T	possibly damaging	Het
Or7e176	T	G	9: 20,171,586 (GRCm39)	M150R	probably damaging	Het
Pappa2	A	G	1: 158,611,511 (GRCm39)	L1484P	probably damaging	Het
Polr3c	A	T	3: 96,623,981 (GRCm39)		probably null	Het
Ros1	C	A	10: 51,954,007 (GRCm39)	E1877D	probably damaging	Het
Slc5a4b	T	C	10: 75,896,260 (GRCm39)	N565S	probably damaging	Het
Speer1m	A	C	5: 11,971,423 (GRCm39)	N125T	probably benign	Het
Suclg2	A	T	6: 95,565,915 (GRCm39)		probably benign	Het
Sult2a8	T	C	7: 14,159,382 (GRCm39)	E79G	probably damaging	Het
Triobp	A	G	15: 78,851,564 (GRCm39)	T573A	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfand5	C	T	19: 21,257,122 (GRCm39)		probably benign	Het
Zfhx4	C	A	3: 5,477,769 (GRCm39)	H3461Q	probably damaging	Het

Other mutations in Slf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Slf2	APN	19	44,961,706 (GRCm39)	critical splice donor site	probably null
IGL02429:Slf2	APN	19	44,930,167 (GRCm39)	missense	probably benign
IGL02899:Slf2	APN	19	44,930,459 (GRCm39)	missense	probably benign	0.26
Evidentiary	UTSW	19	44,926,863 (GRCm39)	splice site	probably null
BB004:Slf2	UTSW	19	44,923,740 (GRCm39)	missense	probably damaging	0.97
BB014:Slf2	UTSW	19	44,923,740 (GRCm39)	missense	probably damaging	0.97
R0060:Slf2	UTSW	19	44,936,443 (GRCm39)	missense	probably damaging	1.00
R0731:Slf2	UTSW	19	44,964,165 (GRCm39)	splice site	probably benign
R1158:Slf2	UTSW	19	44,919,855 (GRCm39)	missense	probably damaging	0.99
R1590:Slf2	UTSW	19	44,930,512 (GRCm39)	nonsense	probably null
R1608:Slf2	UTSW	19	44,937,440 (GRCm39)	missense	probably benign	0.08
R1823:Slf2	UTSW	19	44,923,687 (GRCm39)	missense	possibly damaging	0.86
R2511:Slf2	UTSW	19	44,930,045 (GRCm39)	missense	possibly damaging	0.86
R3040:Slf2	UTSW	19	44,969,008 (GRCm39)	missense	probably damaging	0.99
R3236:Slf2	UTSW	19	44,930,773 (GRCm39)	missense	probably benign	0.33
R3237:Slf2	UTSW	19	44,930,773 (GRCm39)	missense	probably benign	0.33
R3552:Slf2	UTSW	19	44,923,390 (GRCm39)	nonsense	probably null
R3754:Slf2	UTSW	19	44,961,676 (GRCm39)	missense	probably benign
R4683:Slf2	UTSW	19	44,923,920 (GRCm39)	missense	probably benign	0.22
R4757:Slf2	UTSW	19	44,923,497 (GRCm39)	missense	probably benign
R4782:Slf2	UTSW	19	44,923,364 (GRCm39)	splice site	probably null
R4914:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4915:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4916:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4917:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4918:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R5069:Slf2	UTSW	19	44,923,692 (GRCm39)	missense	possibly damaging	0.94
R5092:Slf2	UTSW	19	44,940,523 (GRCm39)	missense	probably benign	0.14
R5215:Slf2	UTSW	19	44,936,476 (GRCm39)	missense	probably damaging	0.99
R5276:Slf2	UTSW	19	44,923,600 (GRCm39)	missense	possibly damaging	0.84
R5656:Slf2	UTSW	19	44,961,674 (GRCm39)	missense	probably benign	0.13
R6132:Slf2	UTSW	19	44,949,300 (GRCm39)	missense	possibly damaging	0.60
R6358:Slf2	UTSW	19	44,923,864 (GRCm39)	missense	probably benign	0.34
R6481:Slf2	UTSW	19	44,961,603 (GRCm39)	missense	probably benign	0.01
R6809:Slf2	UTSW	19	44,931,907 (GRCm39)	missense	probably damaging	0.98
R7263:Slf2	UTSW	19	44,926,863 (GRCm39)	splice site	probably null
R7912:Slf2	UTSW	19	44,930,682 (GRCm39)	missense	probably damaging	0.96
R7914:Slf2	UTSW	19	44,947,499 (GRCm39)	missense	possibly damaging	0.71
R7927:Slf2	UTSW	19	44,923,740 (GRCm39)	missense	probably damaging	0.97
R8006:Slf2	UTSW	19	44,930,756 (GRCm39)	missense	probably damaging	0.99
R8154:Slf2	UTSW	19	44,923,596 (GRCm39)	missense	possibly damaging	0.94
R8746:Slf2	UTSW	19	44,962,063 (GRCm39)	missense	probably damaging	1.00
R9075:Slf2	UTSW	19	44,930,860 (GRCm39)	missense	probably damaging	0.99
R9352:Slf2	UTSW	19	44,931,957 (GRCm39)	missense	probably null	0.97
R9354:Slf2	UTSW	19	44,936,471 (GRCm39)	missense	probably damaging	0.98
R9369:Slf2	UTSW	19	44,923,953 (GRCm39)	nonsense	probably null
R9412:Slf2	UTSW	19	44,930,460 (GRCm39)	missense	probably benign	0.31
R9743:Slf2	UTSW	19	44,930,572 (GRCm39)	missense	probably benign	0.40
R9778:Slf2	UTSW	19	44,961,666 (GRCm39)	missense	probably benign	0.04
Z1176:Slf2	UTSW	19	44,930,104 (GRCm39)	nonsense	probably null

Posted On

2014-05-07