Mutagenetix > Incidental Mutation

Incidental Mutation 'R6358:Slf2'

513374

Institutional Source

Beutler Lab

Gene Symbol

Slf2

Ensembl Gene

ENSMUSG00000036097

Gene Name

SMC5-SMC6 complex localization factor 2

Synonyms

Fam178a, 6030443O07Rik

MMRRC Submission

044508-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R6358 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44931119-44983787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44935425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 226 (H226L)

Ref Sequence

ENSEMBL: ENSMUSP00000093758 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096053
AA Change: H226L

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: H226L

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 40,826,681	V703A	probably benign	Het
Adgrv1	T	A	13: 81,414,583	Q5389L	probably damaging	Het
Aldh18a1	A	T	19: 40,577,678	I42N	possibly damaging	Het
Ankrd28	A	C	14: 31,710,864	C575W	probably damaging	Het
Car14	T	A	3: 95,898,175	T329S	possibly damaging	Het
Cdhr2	T	C	13: 54,736,546	F1298S	probably damaging	Het
Crhr2	A	G	6: 55,093,043	I341T	probably benign	Het
D5Ertd579e	T	A	5: 36,616,236		probably null	Het
Emilin1	A	G	5: 30,918,218	E601G	probably damaging	Het
Erbin	T	A	13: 103,845,565	Q456L	probably damaging	Het
Glp1r	T	C	17: 30,932,644	V405A	probably benign	Het
Gm10220	C	G	5: 26,120,305		probably null	Het
Gm2016	A	G	12: 87,877,000	E139G	unknown	Het
Gm527	A	T	12: 64,923,548	H219L	possibly damaging	Het
Gorasp2	T	A	2: 70,672,760	M1K	probably null	Het
H2-DMa	T	A	17: 34,137,984	L152H	probably damaging	Het
Hsd3b7	T	A	7: 127,801,537	H54Q	probably damaging	Het
Hspa12b	T	C	2: 131,137,066		probably benign	Het
Iars	C	A	13: 49,727,143	T1006K	possibly damaging	Het
Jmjd1c	T	C	10: 67,225,939	V1357A	probably benign	Het
Magi3	T	C	3: 104,050,952	M606V	probably damaging	Het
Mia	T	C	7: 27,180,978	D24G	probably benign	Het
Mon2	A	T	10: 123,013,504	L1297Q	probably damaging	Het
Musk	T	A	4: 58,373,171	S691T	possibly damaging	Het
Myo5c	A	T	9: 75,296,012	E1463D	possibly damaging	Het
Ndufs6	C	T	13: 73,320,319	G87D	probably damaging	Het
Npnt	C	T	3: 132,904,718	V415I	probably benign	Het
Ntsr2	A	G	12: 16,656,768	I266V	probably benign	Het
Olfr259	T	C	2: 87,108,434		probably benign	Het
Olfr736	A	T	14: 50,393,388	I211F	possibly damaging	Het
Pkmyt1	T	A	17: 23,733,656		probably null	Het
Polr1e	T	C	4: 45,026,813	L166P	probably damaging	Het
Ppib	T	G	9: 66,061,474	F48C	probably damaging	Het
Ppl	C	A	16: 5,087,929	E1501*	probably null	Het
Prpf8	T	C	11: 75,491,495	V384A	probably benign	Het
Ptch1	T	G	13: 63,513,689	S1212R	probably damaging	Het
Ralb	C	A	1: 119,476,005	D131Y	probably damaging	Het
Rfx4	T	A	10: 84,844,235	M141K	probably damaging	Het
Rgl2	T	A	17: 33,937,131		probably null	Het
Rpl27	A	G	11: 101,443,956		probably benign	Het
Sdc1	A	C	12: 8,791,297	T213P	probably damaging	Het
Setx	T	A	2: 29,171,348	N2256K	possibly damaging	Het
Shank2	A	G	7: 144,031,297	M12V	probably benign	Het
Slc22a28	T	A	19: 8,071,888	K332M	probably damaging	Het
Tbc1d10b	T	C	7: 127,203,412	S362G	probably benign	Het
Tbxas1	G	A	6: 38,952,112		probably benign	Het
Tctn1	A	G	5: 122,261,512	V83A	probably damaging	Het
Tgm4	A	G	9: 123,056,518	E375G	probably damaging	Het
Tmeff2	T	A	1: 51,133,114	Y247*	probably null	Het
Tmem167b	C	T	3: 108,558,895	R79H	possibly damaging	Het
Tmprss7	T	G	16: 45,669,573	M429L	probably benign	Het
Tnfsf18	T	A	1: 161,503,579	D99E	probably benign	Het
Tnrc18	A	T	5: 142,727,981	S2534T	probably damaging	Het
Tnxb	A	G	17: 34,678,994	E872G	probably damaging	Het
Tomm40l	C	T	1: 171,219,637	V237I	possibly damaging	Het
Trbv2	A	G	6: 41,047,902	Q84R	probably benign	Het
Tspan18	T	C	2: 93,209,874	R179G	probably benign	Het
Tspan8	G	T	10: 115,833,227	V56L	probably benign	Het
Zbtb22	T	C	17: 33,918,737	S619P	probably damaging	Het
Zfp2	A	T	11: 50,900,601	I205N	probably damaging	Het
Zfpm1	A	G	8: 122,337,111		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGCCCAAAGAGATCAAGGC -3'
(R):5'- TTGCTATGCTCATGCCTCGG -3'

Sequencing Primer
(F):5'- AAAACACCAGTCTCCTGAGAG -3'
(R):5'- GCTCATGCCTCGGCTTACAG -3'

Posted On

2018-04-27