Mutagenetix > Incidental Mutation

Incidental Mutation 'R8006:Slf2'

616657

Institutional Source

Beutler Lab

Gene Symbol

Slf2

Ensembl Gene

ENSMUSG00000036097

Gene Name

SMC5-SMC6 complex localization factor 2

Synonyms

Fam178a, 6030443O07Rik

MMRRC Submission

046046-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R8006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44931119-44983787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44942317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 611 (L611Q)

Ref Sequence

ENSEMBL: ENSMUSP00000093758 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000096053
AA Change: L611Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: L611Q

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 40,795,907	H351Q	probably benign	Het
Ahnak	T	C	19: 9,012,083	V3577A	possibly damaging	Het
Akap13	T	C	7: 75,579,696	S126P	probably damaging	Het
Akip1	A	G	7: 109,703,992	D14G	probably damaging	Het
Ankhd1	A	G	18: 36,648,719	R287G		Het
Ankrd13a	A	C	5: 114,804,423	*589S	probably null	Het
Ankrd34c	T	C	9: 89,729,836	I151V	probably damaging	Het
Ano5	T	A	7: 51,593,770	D880E	probably benign	Het
Arl3	A	C	19: 46,558,374	L4R	probably damaging	Het
Ate1	T	A	7: 130,467,388	Q340L	probably damaging	Het
Ccdc38	A	T	10: 93,555,586		probably null	Het
Celsr3	C	T	9: 108,829,107	P930S	probably damaging	Het
Cox18	C	T	5: 90,223,813	V43M	probably damaging	Het
Ctnna3	A	G	10: 63,582,011	K176R	probably benign	Het
Fam135b	T	C	15: 71,462,334	T1004A	probably benign	Het
Fam227a	A	G	15: 79,634,098	I335T	possibly damaging	Het
Gm14496	A	G	2: 181,995,876	I248V	probably benign	Het
Gm4788	A	G	1: 139,736,852	Y490H	probably damaging	Het
Gm5415	T	A	1: 32,546,924		probably benign	Het
Gm6871	T	C	7: 41,545,682	T544A	probably benign	Het
Grm6	A	T	11: 50,864,657	*872L	probably null	Het
Herc1	T	A	9: 66,445,560	Y2109*	probably null	Het
Hsd11b2	T	A	8: 105,519,103	V80E	possibly damaging	Het
Itgb3	T	C	11: 104,665,496	V721A	possibly damaging	Het
Jade1	A	T	3: 41,613,689	I731L	probably benign	Het
Khnyn	G	A	14: 55,887,590	V434I	probably benign	Het
Lrp1	A	G	10: 127,589,619	L714P	probably damaging	Het
Lrrc41	G	A	4: 116,094,888	E585K	possibly damaging	Het
Lrrfip1	A	G	1: 91,076,951	Y70C	probably damaging	Het
Mex3a	T	A	3: 88,537,086	C490S	probably damaging	Het
Mmp27	C	T	9: 7,578,984	R387C	probably damaging	Het
Mro	A	T	18: 73,877,506	D219V	possibly damaging	Het
Myot	T	A	18: 44,354,837	L407Q	probably damaging	Het
Nppa	T	A	4: 148,001,181	W82R	probably damaging	Het
Olfr243	T	A	7: 103,717,325	C244S	probably damaging	Het
Olfr981	T	G	9: 40,022,474	L27R	probably damaging	Het
Olfr994	T	C	2: 85,429,974	N285S	probably damaging	Het
Phip	T	A	9: 82,890,126	I1123L	possibly damaging	Het
Ppip5k2	A	G	1: 97,734,106	I695T	probably benign	Het
Ppp1r10	A	T	17: 35,928,266	M347L	probably benign	Het
Reln	A	T	5: 21,899,084	C3296*	probably null	Het
Spire1	G	A	18: 67,501,181	Q396*	probably null	Het
Taf2	A	G	15: 55,048,701	F537L	probably damaging	Het
Tbc1d16	C	T	11: 119,156,072	E451K	probably damaging	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tmem267	T	A	13: 119,609,238	V143E	probably damaging	Het
Tyw1	C	T	5: 130,268,072	R177W	possibly damaging	Het
Vcp	A	T	4: 42,985,993	H340Q	probably benign	Het
Vmn2r14	A	T	5: 109,220,458	L223M	probably benign	Het
Wnk4	A	G	11: 101,268,356	D533G	probably benign	Het
Wwp1	A	T	4: 19,650,174	C331S	probably benign	Het
Zik1	A	T	7: 10,490,173	C332*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGAGTATGCCCCTCCAACAG -3'
(R):5'- ACGATGAGCTGTAGTAAACACTG -3'

Sequencing Primer
(F):5'- AGCATCTCCCCCAGCTG -3'
(R):5'- AACTTTCCCCGTCAAGTG -3'

Posted On

2020-01-23