Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Slf2'

18096

Institutional Source

Beutler Lab

Gene Symbol

Slf2

Ensembl Gene

ENSMUSG00000036097

Gene Name

SMC5-SMC6 complex localization factor 2

Synonyms

Fam178a, 6030443O07Rik

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44931119-44983787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44948004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 696 (G696V)

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 damaging
Transcript: ENSMUST00000096053
AA Change: G696V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: G696V

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

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 90.4%
3x: 88.3%
10x: 83.8%
20x: 78.1%

Validation Efficiency

94% (74/79)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810011H11Rik	C	A	14: 32,806,769		probably benign	Het
1810065E05Rik	A	C	11: 58,422,182		probably benign	Het
4930432E11Rik	A	G	7: 29,574,170		noncoding transcript	Het
A630091E08Rik	A	G	7: 98,543,668		noncoding transcript	Het
Abca8a	T	C	11: 110,070,480	T539A	probably damaging	Het
Adam34	A	T	8: 43,675,883		probably benign	Het
Ankrd60	A	T	2: 173,572,613	M1K	probably null	Het
Cald1	T	C	6: 34,715,459		probably benign	Het
Capn7	T	C	14: 31,365,604		probably benign	Het
Cd109	G	A	9: 78,703,107	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,922,198	V2353D	probably damaging	Het
Cep135	A	T	5: 76,621,350	I616F	probably benign	Het
Cep162	T	A	9: 87,237,825		probably benign	Het
Cep350	C	T	1: 155,928,626	D904N	probably damaging	Het
Cep85	T	C	4: 134,167,300	D65G	probably damaging	Het
Cfdp1	T	C	8: 111,840,354		probably benign	Het
Chl1	T	A	6: 103,711,058		probably benign	Het
Colec10	G	A	15: 54,439,146		probably benign	Het
Crxos	A	G	7: 15,898,523	T40A	possibly damaging	Het
Dnhd1	A	G	7: 105,668,514	D472G	probably damaging	Het
Dpp6	C	A	5: 27,598,819	N254K	probably damaging	Het
Eps8l3	T	C	3: 107,879,541	L11S	probably damaging	Het
Flad1	G	A	3: 89,402,245	R515*	probably null	Het
Fzd5	T	C	1: 64,735,676	T309A	probably benign	Het
Gm19685	T	C	17: 60,768,423			Het
Gsdme	A	G	6: 50,221,029	I317T	possibly damaging	Het
Hist1h2ba	A	T	13: 23,933,945	I71N	possibly damaging	Het
Incenp	A	G	19: 9,885,459		probably benign	Het
Itgad	T	C	7: 128,202,986	S979P	probably damaging	Het
Kat2b	T	C	17: 53,654,543	V557A	probably damaging	Het
Lamc1	A	T	1: 153,241,868		probably benign	Het
Lgi4	G	A	7: 31,063,571	G157D	probably damaging	Het
Mga	T	C	2: 119,960,961		probably null	Het
Nubpl	T	C	12: 52,310,687		probably benign	Het
Olfr1105	T	C	2: 87,033,774	Y149C	probably damaging	Het
Olfr124	T	C	17: 37,806,000	L285P	probably damaging	Het
Olfr898	C	T	9: 38,349,512	S143F	probably benign	Het
Peak1	A	T	9: 56,227,823	I78K	probably damaging	Het
Prune2	T	A	19: 17,003,733	F85I	probably damaging	Het
Rbm11	G	T	16: 75,598,779	D113Y	probably damaging	Het
Rif1	C	T	2: 52,111,117	R1528C	probably damaging	Het
Sema4d	A	G	13: 51,705,257		probably benign	Het
Slc30a4	T	A	2: 122,685,184	T381S	probably benign	Het
Suv39h2	T	C	2: 3,464,916	Y134C	probably damaging	Het
Tmem89	T	A	9: 108,915,417	V126D	probably damaging	Het
Trf	T	C	9: 103,220,922	T46A	probably benign	Het
Trmt6	C	T	2: 132,806,769	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,204,525	K1625E	probably damaging	Het
Usp6nl	T	A	2: 6,440,890	D559E	probably benign	Het
Wdr75	A	G	1: 45,816,617	D476G	probably benign	Het
Wrap53	A	C	11: 69,563,430	L261V	possibly damaging	Het
Zcchc4	T	A	5: 52,807,078	I292N	possibly 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
IGL01904:Slf2	APN	19	44949141	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
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
R8746:Slf2	UTSW	19	44973624	missense	probably damaging	1.00
R9075:Slf2	UTSW	19	44942421	missense	probably damaging	0.99
R9352:Slf2	UTSW	19	44943518	missense	probably null	0.97
R9354:Slf2	UTSW	19	44948032	missense	probably damaging	0.98
R9369:Slf2	UTSW	19	44935514	nonsense	probably null
R9412:Slf2	UTSW	19	44942021	missense	probably benign	0.31
R9743:Slf2	UTSW	19	44942133	missense	probably benign	0.40
R9778:Slf2	UTSW	19	44973227	missense	probably benign	0.04
Z1176:Slf2	UTSW	19	44941665	nonsense	probably null

Posted On

2013-03-25