Mutagenetix > Incidental Mutation

Incidental Mutation 'R5346:Slf1'

422631

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

042925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5346 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77191207-77283592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77240490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 396 (V396A)

Ref Sequence

ENSEMBL: ENSMUSP00000118312 (fasta)

Gene Model

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

AlphaFold

Q8R3P9

Predicted Effect

probably benign
Transcript: ENSMUST00000151524
AA Change: V396A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: V396A

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: 98.8%
10x: 97.7%
20x: 96.3%

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
Arap2	T	A	5: 62,872,089 (GRCm39)	Y513F	probably benign	Het
Cluh	C	A	11: 74,556,044 (GRCm39)	H832N	probably damaging	Het
Cntfr	G	T	4: 41,675,042 (GRCm39)	Y21*	probably null	Het
Cog2	T	C	8: 125,273,370 (GRCm39)	S570P	possibly damaging	Het
Cops7b	A	G	1: 86,510,790 (GRCm39)		probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Dop1a	A	G	9: 86,402,835 (GRCm39)	D1345G	probably damaging	Het
Dqx1	G	A	6: 83,036,700 (GRCm39)	D235N	possibly damaging	Het
Dscaml1	A	G	9: 45,361,857 (GRCm39)	I206V	possibly damaging	Het
Ednra	T	C	8: 78,401,597 (GRCm39)	Y231C	probably damaging	Het
Ehhadh	T	C	16: 21,581,540 (GRCm39)	Y484C	probably damaging	Het
Fmnl3	A	T	15: 99,229,871 (GRCm39)	V150D	probably damaging	Het
Gabrb2	T	A	11: 42,312,216 (GRCm39)	S14T	probably benign	Het
Gm10608	GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,792 (GRCm39)		probably null	Het
Gpatch2	T	C	1: 186,958,065 (GRCm39)	L140P	probably benign	Het
Gsdmc	A	G	15: 63,648,735 (GRCm39)	Y400H	probably damaging	Het
Heatr5b	A	G	17: 79,135,415 (GRCm39)	S239P	probably benign	Het
Hmcn1	A	T	1: 150,498,995 (GRCm39)	I4004N	probably damaging	Het
Insc	T	A	7: 114,403,776 (GRCm39)	N63K	possibly damaging	Het
Mmp28	T	C	11: 83,333,489 (GRCm39)	H484R	probably benign	Het
Nptn	C	A	9: 58,531,070 (GRCm39)	Y64*	probably null	Het
Nsd2	T	A	5: 34,036,480 (GRCm39)	S655T	possibly damaging	Het
Nub1	A	G	5: 24,902,414 (GRCm39)	E253G	probably damaging	Het
Or3a1d	T	C	11: 74,237,496 (GRCm39)	R305G	probably benign	Het
Pde3b	T	A	7: 114,105,425 (GRCm39)	H452Q	probably benign	Het
Pkhd1	T	C	1: 20,462,321 (GRCm39)	M2078V	probably benign	Het
Pkhd1	T	C	1: 20,593,658 (GRCm39)	D1485G	probably damaging	Het
Pkhd1l1	A	C	15: 44,404,363 (GRCm39)	T2331P	probably damaging	Het
Plk5	G	A	10: 80,198,942 (GRCm39)	G433E	probably damaging	Het
Pnliprp2	T	A	19: 58,748,232 (GRCm39)	D4E	probably benign	Het
Prag1	A	G	8: 36,570,839 (GRCm39)	D474G	probably damaging	Het
Psmc1	A	G	12: 100,086,359 (GRCm39)	N332S	probably damaging	Het
Rad9a	G	C	19: 4,251,517 (GRCm39)		probably null	Het
Stat6	G	A	10: 127,488,182 (GRCm39)	R312K	probably benign	Het
Tgm1	A	T	14: 55,948,629 (GRCm39)	V174E	probably damaging	Het
Tnc	A	G	4: 63,926,892 (GRCm39)	V878A	probably benign	Het
Ube4b	A	T	4: 149,421,881 (GRCm39)	H969Q	possibly damaging	Het
Ubr4	T	C	4: 139,155,802 (GRCm39)	I2209T	probably damaging	Het
Ulk2	A	C	11: 61,725,740 (GRCm39)	L112R	probably damaging	Het
Wdr35	T	C	12: 9,028,684 (GRCm39)	Y101H	probably benign	Het
Xpo7	A	G	14: 70,921,117 (GRCm39)	L617P	probably 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
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
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'- GGAAGTGATAAAACAAGCCTTTAACAC -3'
(R):5'- TGCTCTTGAGAATGCTATTATTCTG -3'

Sequencing Primer
(F):5'- AAAACAAGCCTTTAACACAAAAGTAG -3'
(R):5'- TTGTGCTTTGTAAGCTGAA -3'

Posted On

2016-08-04