Mutagenetix > Incidental Mutation

Incidental Mutation 'R2071:Slf1'

227166

Institutional Source

Beutler Lab

Gene Symbol

Slf1

Ensembl Gene

ENSMUSG00000021597

Gene Name

SMC5-SMC6 complex localization factor 1

Synonyms

2700017A04Rik, Brctx, Brctd1, C730024G01Rik, Ankrd32

MMRRC Submission

040076-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77043088-77135473 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77104624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 259 (E259D)

Ref Sequence

ENSEMBL: ENSMUSP00000124865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000151524] [ENSMUST00000159300] [ENSMUST00000159462] [ENSMUST00000162921] [ENSMUST00000162944]

AlphaFold

Q8R3P9

Predicted Effect

probably benign
Transcript: ENSMUST00000151524
AA Change: E259D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: E259D

Domain	Start	End	E-Value	Type
BRCT	2	80	1.37e-2	SMART
BRCT	121	199	2.12e1	SMART
low complexity region	260	273	N/A	INTRINSIC
low complexity region	527	541	N/A	INTRINSIC
low complexity region	765	785	N/A	INTRINSIC
ANK	802	832	1.52e0	SMART
ANK	836	865	4.32e-5	SMART
ANK	870	900	2.07e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159300
AA Change: E259D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124865
Gene: ENSMUSG00000021597
AA Change: E259D

Domain	Start	End	E-Value	Type
BRCT	2	80	1.37e-2	SMART
BRCT	121	199	2.12e1	SMART
low complexity region	260	273	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159462
AA Change: E265D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124543
Gene: ENSMUSG00000021597
AA Change: E265D

Domain	Start	End	E-Value	Type
BRCT	8	86	1.37e-2	SMART
BRCT	127	205	2.12e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162320

Predicted Effect

probably benign
Transcript: ENSMUST00000162921

SMART Domains

Protein: ENSMUSP00000124946
Gene: ENSMUSG00000021597

Domain	Start	End	E-Value	Type
BRCT	2	80	1.37e-2	SMART
Blast:BRCT	121	173	1e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162944

SMART Domains

Protein: ENSMUSP00000123982
Gene: ENSMUSG00000021597

Domain	Start	End	E-Value	Type
BRCT	2	80	1.37e-2	SMART
Blast:BRCT	121	173	1e-8	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are developmentally normal and fertile with no pathological abnormalities or defects in T-cell development and genomic stability. Mutant MEFs grow at a normal rate and are not more sensitive to DNA-damaging agents while thymocytes donot show any major cell cycle defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,383,315	H283Q	probably damaging	Het
2810021J22Rik	A	G	11: 58,876,769	K31E	probably damaging	Het
Abcc10	G	C	17: 46,303,565	N1477K	probably benign	Het
Adam33	T	C	2: 131,055,346	T310A	probably benign	Het
Afm	A	G	5: 90,523,735	D92G	probably benign	Het
Arg1	C	T	10: 24,922,663	A30T	probably benign	Het
Ash1l	C	G	3: 88,966,203	P98A	probably damaging	Het
Atad5	A	T	11: 80,098,052		probably null	Het
Atg2a	T	C	19: 6,257,458	V1474A	probably benign	Het
Atp12a	A	G	14: 56,366,009	K24E	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
B3gnt4	A	T	5: 123,511,370	H266L	probably benign	Het
Bora	T	C	14: 99,062,278	S229P	probably damaging	Het
C87414	T	G	5: 93,636,516	Q363P	probably damaging	Het
Cdsn	A	T	17: 35,554,694	D40V	probably damaging	Het
Cep295	T	C	9: 15,341,564	R323G	probably damaging	Het
Chek2	T	C	5: 110,841,246		probably benign	Het
Chga	A	T	12: 102,562,863	K366N	probably damaging	Het
Chrm5	T	C	2: 112,479,227	K515E	probably null	Het
Cmtr1	A	G	17: 29,694,783		probably null	Het
Cyr61	C	T	3: 145,648,673	W161*	probably null	Het
Dsg3	T	C	18: 20,536,825	L632S	probably damaging	Het
Fam129a	T	C	1: 151,636,430	F28L	probably damaging	Het
Fzd3	A	G	14: 65,235,563	F252S	probably damaging	Het
Gas2l2	T	C	11: 83,421,949	K846E	probably benign	Het
Gm21761	A	T	13: 119,912,300	D151E	probably benign	Het
Gm8300	T	A	12: 87,517,052	F52L	probably benign	Het
Gpatch11	T	C	17: 78,841,085		probably null	Het
Gucy2g	T	A	19: 55,222,340	Y661F	possibly damaging	Het
Hhip	A	G	8: 80,057,302	F72L	probably benign	Het
Kat14	T	C	2: 144,389,216	L181P	probably damaging	Het
Kifc3	A	T	8: 95,108,353		probably null	Het
Kntc1	G	T	5: 123,794,277		probably null	Het
Man2b1	G	T	8: 85,085,384	V156L	possibly damaging	Het
Mast1	T	C	8: 84,921,194	D517G	probably damaging	Het
Mc1r	T	C	8: 123,408,369	L287P	possibly damaging	Het
Mctp1	A	T	13: 76,759,724	E238V	probably damaging	Het
Mmp12	T	A	9: 7,349,725	I52N	probably damaging	Het
Morc1	C	T	16: 48,592,611	T705I	probably benign	Het
Mrpl24	T	C	3: 87,923,067		probably null	Het
Nap1l1	C	T	10: 111,492,900	T230I	possibly damaging	Het
Nmral1	T	A	16: 4,716,347	I77F	probably damaging	Het
Nudt13	T	A	14: 20,303,977	D36E	probably damaging	Het
Oxsm	A	G	14: 16,241,983	L262P	probably benign	Het
Pde10a	A	T	17: 8,961,995	I754F	probably benign	Het
Pdzph1	T	C	17: 58,974,097	R397G	probably benign	Het
Polr1a	T	A	6: 71,976,074	V567E	possibly damaging	Het
Pou3f2	A	G	4: 22,488,076	V19A	probably benign	Het
Pth1r	A	G	9: 110,727,013	I264T	probably benign	Het
Ptprn	C	A	1: 75,255,144	G504C	probably damaging	Het
Rbak	A	G	5: 143,176,584	L8P	probably damaging	Het
Rev3l	T	A	10: 39,824,353	D1615E	probably benign	Het
Rhob	A	G	12: 8,499,232	M134T	probably benign	Het
Slc10a4	T	C	5: 73,007,497	L144P	probably damaging	Het
Slc45a3	T	C	1: 131,977,632	L131P	probably damaging	Het
Slitrk5	A	G	14: 111,680,189	Y415C	probably damaging	Het
Sohlh2	A	G	3: 55,207,622	I343V	probably benign	Het
Sorl1	T	C	9: 41,979,457	D1922G	possibly damaging	Het
Spats2l	T	A	1: 57,940,464	I243N	possibly damaging	Het
Specc1	A	C	11: 62,117,875	K152N	probably damaging	Het
Sv2a	G	A	3: 96,193,875	A730T	possibly damaging	Het
Tars2	C	A	3: 95,747,638	G113C	probably damaging	Het
Tep1	T	C	14: 50,854,282	K601E	probably benign	Het
Tmem8	T	C	17: 26,122,043	Y176H	probably damaging	Het
Trp53	A	G	11: 69,589,632	D278G	probably damaging	Het
Ttc39d	G	A	17: 80,216,601	G230R	probably damaging	Het
Tubb2b	T	A	13: 34,128,261	Y183F	probably damaging	Het
Ubxn7	T	A	16: 32,372,469	C160S	possibly damaging	Het
Vcp	A	G	4: 42,995,894		probably null	Het
Vmn1r201	T	C	13: 22,474,825	F70L	probably benign	Het
Vmn1r49	C	T	6: 90,072,202	V273I	probably benign	Het
Vmn2r103	A	T	17: 19,793,794	I283L	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfp408	A	G	2: 91,646,018	F364L	probably damaging	Het
Zfyve26	A	G	12: 79,287,446	L266P	possibly damaging	Het

Other mutations in Slf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Slf1	APN	13	77043947	missense	possibly damaging	0.95
IGL01105:Slf1	APN	13	77100912	unclassified	probably benign
IGL01108:Slf1	APN	13	77125475	splice site	probably benign
IGL01149:Slf1	APN	13	77112648	missense	probably damaging	0.99
IGL01642:Slf1	APN	13	77049915	missense	probably benign	0.00
IGL01757:Slf1	APN	13	77084440	missense	probably benign
IGL01887:Slf1	APN	13	77100982	missense	probably benign	0.02
IGL02323:Slf1	APN	13	77051294	missense	possibly damaging	0.87
IGL02861:Slf1	APN	13	77126359	splice site	probably benign
IGL02971:Slf1	APN	13	77047104	splice site	probably benign
IGL03088:Slf1	APN	13	77084435	missense	probably damaging	1.00
IGL03215:Slf1	APN	13	77049977	missense	probably benign	0.00
IGL02980:Slf1	UTSW	13	77044004	missense	possibly damaging	0.92
PIT1430001:Slf1	UTSW	13	77050050	splice site	probably benign
R0036:Slf1	UTSW	13	77100951	missense	probably benign	0.02
R0036:Slf1	UTSW	13	77100951	missense	probably benign	0.02
R0125:Slf1	UTSW	13	77043745	missense	probably benign	0.02
R0230:Slf1	UTSW	13	77112748	intron	probably benign
R0244:Slf1	UTSW	13	77126632	nonsense	probably null
R0395:Slf1	UTSW	13	77105969	splice site	probably benign
R0614:Slf1	UTSW	13	77049114	missense	probably benign	0.10
R0661:Slf1	UTSW	13	77083596	missense	probably benign	0.31
R0837:Slf1	UTSW	13	77100948	splice site	probably null
R0945:Slf1	UTSW	13	77103471	unclassified	probably benign
R1282:Slf1	UTSW	13	77043840	missense	probably damaging	0.97
R1365:Slf1	UTSW	13	77126371	missense	probably damaging	1.00
R1449:Slf1	UTSW	13	77083449	missense	probably damaging	1.00
R1646:Slf1	UTSW	13	77066648	nonsense	probably null
R2141:Slf1	UTSW	13	77049219	critical splice acceptor site	probably null
R2217:Slf1	UTSW	13	77046706	critical splice acceptor site	probably null
R2397:Slf1	UTSW	13	77103583	nonsense	probably null
R2520:Slf1	UTSW	13	77051265	missense	probably damaging	1.00
R3108:Slf1	UTSW	13	77126721	splice site	probably benign
R4178:Slf1	UTSW	13	77043569	missense	probably damaging	1.00
R4663:Slf1	UTSW	13	77126604	missense	probably damaging	1.00
R4730:Slf1	UTSW	13	77046632	missense	probably damaging	1.00
R4910:Slf1	UTSW	13	77043880	missense	probably benign	0.14
R4912:Slf1	UTSW	13	77051294	missense	probably damaging	1.00
R5122:Slf1	UTSW	13	77049987	missense	probably benign	0.01
R5269:Slf1	UTSW	13	77104581	missense	probably benign	0.33
R5336:Slf1	UTSW	13	77106010	makesense	probably null
R5346:Slf1	UTSW	13	77092371	missense	probably benign	0.00
R5445:Slf1	UTSW	13	77091204	missense	probably benign	0.10
R5568:Slf1	UTSW	13	77046704	missense	probably damaging	1.00
R5622:Slf1	UTSW	13	77049971	missense	probably benign	0.14
R5685:Slf1	UTSW	13	77083479	missense	possibly damaging	0.88
R5792:Slf1	UTSW	13	77066737	missense	probably benign	0.03
R5856:Slf1	UTSW	13	77106087	missense	possibly damaging	0.63
R6109:Slf1	UTSW	13	77126680	missense	probably damaging	0.99
R6245:Slf1	UTSW	13	77084383	missense	probably damaging	1.00
R6338:Slf1	UTSW	13	77084462	critical splice acceptor site	probably null
R6438:Slf1	UTSW	13	77066606	missense	probably damaging	1.00
R6487:Slf1	UTSW	13	77066617	missense	probably damaging	1.00
R6597:Slf1	UTSW	13	77049129	missense	probably benign	0.01
R6600:Slf1	UTSW	13	77083536	missense	probably benign	0.00
R6661:Slf1	UTSW	13	77043845	missense	probably damaging	1.00
R7268:Slf1	UTSW	13	77066707	missense	probably damaging	1.00
R7308:Slf1	UTSW	13	77051168	missense	probably benign	0.19
R7355:Slf1	UTSW	13	77091303	missense	probably damaging	1.00
R7546:Slf1	UTSW	13	77049192	missense	probably benign
R7807:Slf1	UTSW	13	77046704	missense	probably damaging	1.00
R8175:Slf1	UTSW	13	77112671	missense	probably damaging	1.00
R8385:Slf1	UTSW	13	77105990	missense	probably benign
R8698:Slf1	UTSW	13	77049165	missense	possibly damaging	0.78
R8770:Slf1	UTSW	13	77046647	missense	probably damaging	1.00
R8786:Slf1	UTSW	13	77126687	missense	possibly damaging	0.93
R8796:Slf1	UTSW	13	77066665	missense	probably benign	0.00
R8932:Slf1	UTSW	13	77046574	missense	probably damaging	1.00
R9132:Slf1	UTSW	13	77100954	missense	probably benign	0.24
R9243:Slf1	UTSW	13	77125456	missense	possibly damaging	0.95
R9274:Slf1	UTSW	13	77043550	makesense	probably null
R9286:Slf1	UTSW	13	77043813	missense	probably damaging	0.99
R9416:Slf1	UTSW	13	77046537	missense
R9612:Slf1	UTSW	13	77049085	critical splice donor site	probably null
X0018:Slf1	UTSW	13	77051238	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACTTTGATACATGTGCTTTGCAAG -3'
(R):5'- ACGGAAGTTACCACAGTTGATTCTG -3'

Sequencing Primer
(F):5'- CAAGTCCATGTCTTCTGAG -3'
(R):5'- GGCAAACTAAAGCATTTGTTTTCTGG -3'

Posted On

2014-09-17