Mutagenetix > Incidental Mutation

Incidental Mutation 'R6661:Slf1'

526852

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

044781-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6661 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77191207-77283592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77191964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 957 (R957G)

Ref Sequence

ENSEMBL: ENSMUSP00000118312 (fasta)

Gene Model

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

AlphaFold

Q8R3P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000151524
AA Change: R957G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: R957G

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

noncoding transcript
Transcript: ENSMUST00000162005

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.8%

Validation Efficiency

93% (38/41)

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
Amy2a1	T	C	3: 113,325,363 (GRCm39)	Y77C	probably damaging	Het
Ankrd9	C	A	12: 110,944,202 (GRCm39)		probably benign	Het
Arhgap28	C	A	17: 68,152,746 (GRCm39)	W675L	probably damaging	Het
Arhgap44	A	G	11: 64,900,834 (GRCm39)	S595P	probably damaging	Het
Brd10	A	T	19: 29,700,864 (GRCm39)	H741Q	possibly damaging	Het
Cacna1d	C	A	14: 29,811,832 (GRCm39)	D1273Y	probably damaging	Het
Ccr4	T	C	9: 114,325,031 (GRCm39)		probably benign	Het
Celsr1	A	G	15: 85,803,135 (GRCm39)	V2468A	probably damaging	Het
Chd2	T	C	7: 73,140,230 (GRCm39)	E666G	possibly damaging	Het
Ctnnd1	C	A	2: 84,439,986 (GRCm39)	V775L	probably damaging	Het
Cux2	C	A	5: 122,007,360 (GRCm39)	R767L	probably benign	Het
Decr2	A	G	17: 26,302,561 (GRCm39)	L217S	possibly damaging	Het
Dennd4c	T	A	4: 86,717,626 (GRCm39)	M541K	possibly damaging	Het
Dnah7a	T	C	1: 53,662,609 (GRCm39)	R651G	probably benign	Het
Fbrsl1	A	T	5: 110,525,963 (GRCm39)	F80I	probably damaging	Het
Fmnl2	C	A	2: 52,998,297 (GRCm39)	P554Q	probably damaging	Het
Gapvd1	C	T	2: 34,618,450 (GRCm39)	D308N	probably damaging	Het
Gatb	A	G	3: 85,559,726 (GRCm39)		probably null	Het
Jcad	G	A	18: 4,675,256 (GRCm39)	G1006D	probably damaging	Het
Krt1c	A	G	15: 101,724,398 (GRCm39)	Y289H	probably damaging	Het
Lrrc52	A	G	1: 167,293,922 (GRCm39)	F121S	probably damaging	Het
Lrrc63	G	A	14: 75,362,633 (GRCm39)	T299I	unknown	Het
Magi1	T	C	6: 93,920,289 (GRCm39)	N109S	probably benign	Het
Mbd4	C	A	6: 115,826,116 (GRCm39)	E271*	probably null	Het
Meis2	T	A	2: 115,694,751 (GRCm39)	D457V	probably damaging	Het
Mroh8	A	G	2: 157,067,547 (GRCm39)	V604A	probably benign	Het
Nedd4	T	A	9: 72,593,377 (GRCm39)	V150E	probably damaging	Het
Nes	A	G	3: 87,884,243 (GRCm39)	E790G	probably damaging	Het
Or8h8	T	C	2: 86,753,492 (GRCm39)	N128S	probably benign	Het
Pik3c2a	T	C	7: 115,967,993 (GRCm39)	I834V	possibly damaging	Het
Plxnb1	T	C	9: 108,933,367 (GRCm39)	C666R	possibly damaging	Het
Prg2	T	C	2: 84,813,620 (GRCm39)		probably null	Het
Selenbp2	A	G	3: 94,609,821 (GRCm39)	D257G	probably damaging	Het
Smim10l1	T	A	6: 133,082,513 (GRCm39)	M46K	possibly damaging	Het
Sptbn5	T	C	2: 119,902,856 (GRCm39)	Y50C	possibly damaging	Het
Tcea1	A	G	1: 4,928,652 (GRCm39)		probably benign	Het
Tex14	A	G	11: 87,385,842 (GRCm39)	E234G	probably damaging	Het
Tmbim4	T	C	10: 120,060,556 (GRCm39)	V181A	probably benign	Het
Trappc9	A	G	15: 72,461,993 (GRCm39)	S1091P	possibly damaging	Het
Txnrd3	T	A	6: 89,631,134 (GRCm39)	C143*	probably null	Het
Ushbp1	C	T	8: 71,843,305 (GRCm39)	C314Y	unknown	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
R0661:Slf1	UTSW	13	77,231,715 (GRCm39)	missense	probably benign	0.31
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
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'- TCAGGCAGCTCTTTAAGAACAC -3'
(R):5'- TTTCACAGGCCCAGAACTTTTAC -3'

Sequencing Primer
(F):5'- CAGCTCTTTAAGAACACTTGGGAGC -3'
(R):5'- GGCCCAGAACTTTTACAGCAGAG -3'

Posted On

2018-07-23