Mutagenetix > Incidental Mutation

Incidental Mutation 'R0661:Slf1'

61853

Institutional Source

Beutler Lab

Gene Symbol

Slf1

Ensembl Gene

ENSMUSG00000021597

Gene Name

SMC5-SMC6 complex localization factor 1

Synonyms

Brctx, C730024G01Rik, Ankrd32, Brctd1, 2700017A04Rik

MMRRC Submission

038846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0661 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

77191207-77283592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77231715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 555 (W555R)

Ref Sequence

ENSEMBL: ENSMUSP00000118312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000151524]

AlphaFold

Q8R3P9

Predicted Effect

probably benign
Transcript: ENSMUST00000151524
AA Change: W555R

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: W555R

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	T	A	3: 20,370,163 (GRCm39)	T148S	possibly damaging	Het
Anks3	A	G	16: 4,766,198 (GRCm39)	F124L	probably damaging	Het
Ar	T	A	X: 97,194,171 (GRCm39)	Y262N	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Brip1	A	T	11: 86,001,189 (GRCm39)	I749N	possibly damaging	Het
C1ra	T	A	6: 124,499,336 (GRCm39)	H507Q	probably benign	Het
Cdk9	G	A	2: 32,599,832 (GRCm39)	T135I	probably damaging	Het
Col1a1	A	G	11: 94,840,215 (GRCm39)	T1088A	unknown	Het
Cpne2	T	C	8: 95,282,667 (GRCm39)	I283T	possibly damaging	Het
Dcaf17	T	C	2: 70,918,779 (GRCm39)	L451P	probably damaging	Het
Dhx57	C	T	17: 80,576,293 (GRCm39)	C599Y	probably damaging	Het
Drd1	T	A	13: 54,207,057 (GRCm39)	N379Y	possibly damaging	Het
Fsip2	A	G	2: 82,816,513 (GRCm39)	D4082G	possibly damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Heyl	G	T	4: 123,139,824 (GRCm39)	V128F	probably damaging	Het
Hoxd12	A	G	2: 74,506,236 (GRCm39)	E216G	probably damaging	Het
Inpp4b	C	A	8: 82,468,091 (GRCm39)	A18E	possibly damaging	Het
Invs	G	A	4: 48,421,861 (GRCm39)	R831H	probably benign	Het
Lrrk2	T	C	15: 91,671,219 (GRCm39)	V2000A	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Or11g27	A	G	14: 50,771,552 (GRCm39)	T228A	probably benign	Het
Or5an9	T	C	19: 12,187,068 (GRCm39)	L46P	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pcdh18	A	C	3: 49,707,767 (GRCm39)	S902R	possibly damaging	Het
Prdm15	A	T	16: 97,630,882 (GRCm39)	V190E	probably benign	Het
Ranbp2	T	G	10: 58,314,555 (GRCm39)	S1758R	probably benign	Het
Rimbp2	A	G	5: 128,863,774 (GRCm39)	V738A	probably benign	Het
Rtl5	T	C	X: 101,114,056 (GRCm39)	H138R	possibly damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc26a6	T	C	9: 108,736,312 (GRCm39)		probably null	Het
Spx	A	G	6: 142,359,565 (GRCm39)	S5G	possibly damaging	Het
Tcp1	T	C	17: 13,142,200 (GRCm39)	V398A	probably benign	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Tsbp1	A	T	17: 34,678,887 (GRCm39)	I217F	possibly damaging	Het
Ufsp2	T	A	8: 46,432,270 (GRCm39)	M1K	probably null	Het
Usf1	G	A	1: 171,245,067 (GRCm39)	R196Q	probably damaging	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Yme1l1	T	A	2: 23,081,054 (GRCm39)	M442K	probably damaging	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het

Other mutations in Slf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Slf1	APN	13	77,192,066 (GRCm39)	missense	possibly damaging	0.95
IGL01105:Slf1	APN	13	77,249,031 (GRCm39)	unclassified	probably benign
IGL01108:Slf1	APN	13	77,273,594 (GRCm39)	splice site	probably benign
IGL01149:Slf1	APN	13	77,260,767 (GRCm39)	missense	probably damaging	0.99
IGL01642:Slf1	APN	13	77,198,034 (GRCm39)	missense	probably benign	0.00
IGL01757:Slf1	APN	13	77,232,559 (GRCm39)	missense	probably benign
IGL01887:Slf1	APN	13	77,249,101 (GRCm39)	missense	probably benign	0.02
IGL02323:Slf1	APN	13	77,199,413 (GRCm39)	missense	possibly damaging	0.87
IGL02861:Slf1	APN	13	77,274,478 (GRCm39)	splice site	probably benign
IGL02971:Slf1	APN	13	77,195,223 (GRCm39)	splice site	probably benign
IGL03088:Slf1	APN	13	77,232,554 (GRCm39)	missense	probably damaging	1.00
IGL03215:Slf1	APN	13	77,198,096 (GRCm39)	missense	probably benign	0.00
IGL02980:Slf1	UTSW	13	77,192,123 (GRCm39)	missense	possibly damaging	0.92
PIT1430001:Slf1	UTSW	13	77,198,169 (GRCm39)	splice site	probably benign
R0036:Slf1	UTSW	13	77,249,070 (GRCm39)	missense	probably benign	0.02
R0036:Slf1	UTSW	13	77,249,070 (GRCm39)	missense	probably benign	0.02
R0125:Slf1	UTSW	13	77,191,864 (GRCm39)	missense	probably benign	0.02
R0230:Slf1	UTSW	13	77,260,867 (GRCm39)	intron	probably benign
R0244:Slf1	UTSW	13	77,274,751 (GRCm39)	nonsense	probably null
R0395:Slf1	UTSW	13	77,254,088 (GRCm39)	splice site	probably benign
R0614:Slf1	UTSW	13	77,197,233 (GRCm39)	missense	probably benign	0.10
R0837:Slf1	UTSW	13	77,249,067 (GRCm39)	splice site	probably null
R0945:Slf1	UTSW	13	77,251,590 (GRCm39)	unclassified	probably benign
R1282:Slf1	UTSW	13	77,191,959 (GRCm39)	missense	probably damaging	0.97
R1365:Slf1	UTSW	13	77,274,490 (GRCm39)	missense	probably damaging	1.00
R1449:Slf1	UTSW	13	77,231,568 (GRCm39)	missense	probably damaging	1.00
R1646:Slf1	UTSW	13	77,214,767 (GRCm39)	nonsense	probably null
R2071:Slf1	UTSW	13	77,252,743 (GRCm39)	missense	probably benign	0.02
R2141:Slf1	UTSW	13	77,197,338 (GRCm39)	critical splice acceptor site	probably null
R2217:Slf1	UTSW	13	77,194,825 (GRCm39)	critical splice acceptor site	probably null
R2397:Slf1	UTSW	13	77,251,702 (GRCm39)	nonsense	probably null
R2520:Slf1	UTSW	13	77,199,384 (GRCm39)	missense	probably damaging	1.00
R3108:Slf1	UTSW	13	77,274,840 (GRCm39)	splice site	probably benign
R4178:Slf1	UTSW	13	77,191,688 (GRCm39)	missense	probably damaging	1.00
R4663:Slf1	UTSW	13	77,274,723 (GRCm39)	missense	probably damaging	1.00
R4730:Slf1	UTSW	13	77,194,751 (GRCm39)	missense	probably damaging	1.00
R4910:Slf1	UTSW	13	77,191,999 (GRCm39)	missense	probably benign	0.14
R4912:Slf1	UTSW	13	77,199,413 (GRCm39)	missense	probably damaging	1.00
R5122:Slf1	UTSW	13	77,198,106 (GRCm39)	missense	probably benign	0.01
R5269:Slf1	UTSW	13	77,252,700 (GRCm39)	missense	probably benign	0.33
R5336:Slf1	UTSW	13	77,254,129 (GRCm39)	makesense	probably null
R5346:Slf1	UTSW	13	77,240,490 (GRCm39)	missense	probably benign	0.00
R5445:Slf1	UTSW	13	77,239,323 (GRCm39)	missense	probably benign	0.10
R5568:Slf1	UTSW	13	77,194,823 (GRCm39)	missense	probably damaging	1.00
R5622:Slf1	UTSW	13	77,198,090 (GRCm39)	missense	probably benign	0.14
R5685:Slf1	UTSW	13	77,231,598 (GRCm39)	missense	possibly damaging	0.88
R5792:Slf1	UTSW	13	77,214,856 (GRCm39)	missense	probably benign	0.03
R5856:Slf1	UTSW	13	77,254,206 (GRCm39)	missense	possibly damaging	0.63
R6109:Slf1	UTSW	13	77,274,799 (GRCm39)	missense	probably damaging	0.99
R6245:Slf1	UTSW	13	77,232,502 (GRCm39)	missense	probably damaging	1.00
R6338:Slf1	UTSW	13	77,232,581 (GRCm39)	critical splice acceptor site	probably null
R6438:Slf1	UTSW	13	77,214,725 (GRCm39)	missense	probably damaging	1.00
R6487:Slf1	UTSW	13	77,214,736 (GRCm39)	missense	probably damaging	1.00
R6597:Slf1	UTSW	13	77,197,248 (GRCm39)	missense	probably benign	0.01
R6600:Slf1	UTSW	13	77,231,655 (GRCm39)	missense	probably benign	0.00
R6661:Slf1	UTSW	13	77,191,964 (GRCm39)	missense	probably damaging	1.00
R7268:Slf1	UTSW	13	77,214,826 (GRCm39)	missense	probably damaging	1.00
R7308:Slf1	UTSW	13	77,199,287 (GRCm39)	missense	probably benign	0.19
R7355:Slf1	UTSW	13	77,239,422 (GRCm39)	missense	probably damaging	1.00
R7546:Slf1	UTSW	13	77,197,311 (GRCm39)	missense	probably benign
R7807:Slf1	UTSW	13	77,194,823 (GRCm39)	missense	probably damaging	1.00
R8175:Slf1	UTSW	13	77,260,790 (GRCm39)	missense	probably damaging	1.00
R8385:Slf1	UTSW	13	77,254,109 (GRCm39)	missense	probably benign
R8698:Slf1	UTSW	13	77,197,284 (GRCm39)	missense	possibly damaging	0.78
R8770:Slf1	UTSW	13	77,194,766 (GRCm39)	missense	probably damaging	1.00
R8786:Slf1	UTSW	13	77,274,806 (GRCm39)	missense	possibly damaging	0.93
R8796:Slf1	UTSW	13	77,214,784 (GRCm39)	missense	probably benign	0.00
R8932:Slf1	UTSW	13	77,194,693 (GRCm39)	missense	probably damaging	1.00
R9132:Slf1	UTSW	13	77,249,073 (GRCm39)	missense	probably benign	0.24
R9243:Slf1	UTSW	13	77,273,575 (GRCm39)	missense	possibly damaging	0.95
R9274:Slf1	UTSW	13	77,191,669 (GRCm39)	makesense	probably null
R9286:Slf1	UTSW	13	77,191,932 (GRCm39)	missense	probably damaging	0.99
R9416:Slf1	UTSW	13	77,194,656 (GRCm39)	missense
R9612:Slf1	UTSW	13	77,197,204 (GRCm39)	critical splice donor site	probably null
X0018:Slf1	UTSW	13	77,199,357 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGGCTACATATACTTTCTATCCTCCCAAT -3'
(R):5'- CCCAGCCCATGAAGCCACTTTTAAT -3'

Sequencing Primer
(F):5'- gaaacctacagataaagagagctaac -3'
(R):5'- CATCCTTCTCCTGTCAAAGTAAACC -3'

Posted On

2013-07-30