Mutagenetix > Incidental Mutation

Incidental Mutation 'R2217:Slf1'

241231

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

040219-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2217 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77043088-77135473 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 77046706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118312 (fasta)

Gene Model

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

AlphaFold

Q8R3P9

Predicted Effect

probably null
Transcript: ENSMUST00000151524

SMART Domains

Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597

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 null
Transcript: ENSMUST00000151524

SMART Domains

Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 111,982,496 (GRCm38)	K232E	probably benign	Het
Apba1	T	C	19: 23,893,962 (GRCm38)	M386T	probably damaging	Het
Appl2	G	T	10: 83,608,737 (GRCm38)	F472L	possibly damaging	Het
Atxn2	T	C	5: 121,803,077 (GRCm38)	Y56H	probably damaging	Het
Cacna1c	T	C	6: 118,670,407 (GRCm38)	Y809C	probably damaging	Het
Canx	C	T	11: 50,310,867 (GRCm38)	V59I	probably benign	Het
Catsperb	T	C	12: 101,594,219 (GRCm38)	L823P	probably damaging	Het
Crb3	T	C	17: 57,065,090 (GRCm38)	S46P	probably benign	Het
Daam1	G	A	12: 71,989,827 (GRCm38)	R1058H	probably damaging	Het
Ehd1	T	A	19: 6,298,472 (GRCm38)	D493E	probably damaging	Het
Eml6	T	A	11: 29,818,907 (GRCm38)	Q746L	probably damaging	Het
Epg5	T	A	18: 77,949,072 (GRCm38)	M328K	probably benign	Het
Flt4	T	A	11: 49,624,728 (GRCm38)	S48T	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably null	Het
Gm7535	A	G	17: 17,911,674 (GRCm38)		probably benign	Het
Gpat4	G	A	8: 23,180,155 (GRCm38)	P286L	probably damaging	Het
Hmcn2	A	T	2: 31,350,574 (GRCm38)	T494S	probably benign	Het
Hydin	G	A	8: 110,418,506 (GRCm38)	V830I	probably benign	Het
Map3k6	T	A	4: 133,246,672 (GRCm38)	H487Q	possibly damaging	Het
Myh14	G	A	7: 44,634,376 (GRCm38)	P735S	probably damaging	Het
Nfkb2	T	C	19: 46,307,724 (GRCm38)		probably null	Het
Nlrp4c	T	C	7: 6,073,114 (GRCm38)	V671A	probably benign	Het
Nsrp1	A	T	11: 77,045,761 (GRCm38)	Y536*	probably null	Het
Olfr1217	G	T	2: 89,023,426 (GRCm38)	H192Q	probably benign	Het
Pak7	A	G	2: 136,116,203 (GRCm38)	S322P	probably damaging	Het
Pank2	A	G	2: 131,282,681 (GRCm38)		probably null	Het
Phf6	A	T	X: 52,942,648 (GRCm38)	I272F	probably damaging	Het
Plxna2	T	C	1: 194,797,748 (GRCm38)	L1409P	probably damaging	Het
Polr2a	A	G	11: 69,742,685 (GRCm38)		probably null	Het
Pp2d1	C	A	17: 53,515,454 (GRCm38)	V195L	probably benign	Het
Psma1	C	T	7: 114,264,938 (GRCm38)	E227K	unknown	Het
Ptger1	C	T	8: 83,668,728 (GRCm38)	T278I	probably benign	Het
Slc20a2	C	A	8: 22,560,516 (GRCm38)	S250R	probably benign	Het
Slc27a2	A	G	2: 126,567,752 (GRCm38)	T285A	probably damaging	Het
Slc47a2	T	C	11: 61,313,671 (GRCm38)	T285A	probably benign	Het
Tiam2	A	G	17: 3,415,114 (GRCm38)	T373A	probably benign	Het
Timd2	T	A	11: 46,687,017 (GRCm38)	I96L	probably damaging	Het
Tmem59l	A	G	8: 70,487,301 (GRCm38)	L6S	unknown	Het
Tmem64	T	C	4: 15,266,658 (GRCm38)	I236T	possibly damaging	Het
Trpm2	T	A	10: 77,941,182 (GRCm38)	D427V	probably damaging	Het
Vax2	A	T	6: 83,737,889 (GRCm38)	Y262F	probably damaging	Het
Virma	T	C	4: 11,544,924 (GRCm38)	S1628P	probably damaging	Het
Zan	C	A	5: 137,410,306 (GRCm38)		probably benign	Het
Zbtb22	T	G	17: 33,917,965 (GRCm38)	D361E	probably damaging	Het
Zfp27	A	G	7: 29,896,111 (GRCm38)	L143P	possibly damaging	Het

Other mutations in Slf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Slf1	APN	13	77,043,947 (GRCm38)	missense	possibly damaging	0.95
IGL01105:Slf1	APN	13	77,100,912 (GRCm38)	unclassified	probably benign
IGL01108:Slf1	APN	13	77,125,475 (GRCm38)	splice site	probably benign
IGL01149:Slf1	APN	13	77,112,648 (GRCm38)	missense	probably damaging	0.99
IGL01642:Slf1	APN	13	77,049,915 (GRCm38)	missense	probably benign	0.00
IGL01757:Slf1	APN	13	77,084,440 (GRCm38)	missense	probably benign
IGL01887:Slf1	APN	13	77,100,982 (GRCm38)	missense	probably benign	0.02
IGL02323:Slf1	APN	13	77,051,294 (GRCm38)	missense	possibly damaging	0.87
IGL02861:Slf1	APN	13	77,126,359 (GRCm38)	splice site	probably benign
IGL02971:Slf1	APN	13	77,047,104 (GRCm38)	splice site	probably benign
IGL03088:Slf1	APN	13	77,084,435 (GRCm38)	missense	probably damaging	1.00
IGL03215:Slf1	APN	13	77,049,977 (GRCm38)	missense	probably benign	0.00
IGL02980:Slf1	UTSW	13	77,044,004 (GRCm38)	missense	possibly damaging	0.92
PIT1430001:Slf1	UTSW	13	77,050,050 (GRCm38)	splice site	probably benign
R0036:Slf1	UTSW	13	77,100,951 (GRCm38)	missense	probably benign	0.02
R0036:Slf1	UTSW	13	77,100,951 (GRCm38)	missense	probably benign	0.02
R0125:Slf1	UTSW	13	77,043,745 (GRCm38)	missense	probably benign	0.02
R0230:Slf1	UTSW	13	77,112,748 (GRCm38)	intron	probably benign
R0244:Slf1	UTSW	13	77,126,632 (GRCm38)	nonsense	probably null
R0395:Slf1	UTSW	13	77,105,969 (GRCm38)	splice site	probably benign
R0614:Slf1	UTSW	13	77,049,114 (GRCm38)	missense	probably benign	0.10
R0661:Slf1	UTSW	13	77,083,596 (GRCm38)	missense	probably benign	0.31
R0837:Slf1	UTSW	13	77,100,948 (GRCm38)	splice site	probably null
R0945:Slf1	UTSW	13	77,103,471 (GRCm38)	unclassified	probably benign
R1282:Slf1	UTSW	13	77,043,840 (GRCm38)	missense	probably damaging	0.97
R1365:Slf1	UTSW	13	77,126,371 (GRCm38)	missense	probably damaging	1.00
R1449:Slf1	UTSW	13	77,083,449 (GRCm38)	missense	probably damaging	1.00
R1646:Slf1	UTSW	13	77,066,648 (GRCm38)	nonsense	probably null
R2071:Slf1	UTSW	13	77,104,624 (GRCm38)	missense	probably benign	0.02
R2141:Slf1	UTSW	13	77,049,219 (GRCm38)	critical splice acceptor site	probably null
R2397:Slf1	UTSW	13	77,103,583 (GRCm38)	nonsense	probably null
R2520:Slf1	UTSW	13	77,051,265 (GRCm38)	missense	probably damaging	1.00
R3108:Slf1	UTSW	13	77,126,721 (GRCm38)	splice site	probably benign
R4178:Slf1	UTSW	13	77,043,569 (GRCm38)	missense	probably damaging	1.00
R4663:Slf1	UTSW	13	77,126,604 (GRCm38)	missense	probably damaging	1.00
R4730:Slf1	UTSW	13	77,046,632 (GRCm38)	missense	probably damaging	1.00
R4910:Slf1	UTSW	13	77,043,880 (GRCm38)	missense	probably benign	0.14
R4912:Slf1	UTSW	13	77,051,294 (GRCm38)	missense	probably damaging	1.00
R5122:Slf1	UTSW	13	77,049,987 (GRCm38)	missense	probably benign	0.01
R5269:Slf1	UTSW	13	77,104,581 (GRCm38)	missense	probably benign	0.33
R5336:Slf1	UTSW	13	77,106,010 (GRCm38)	makesense	probably null
R5346:Slf1	UTSW	13	77,092,371 (GRCm38)	missense	probably benign	0.00
R5445:Slf1	UTSW	13	77,091,204 (GRCm38)	missense	probably benign	0.10
R5568:Slf1	UTSW	13	77,046,704 (GRCm38)	missense	probably damaging	1.00
R5622:Slf1	UTSW	13	77,049,971 (GRCm38)	missense	probably benign	0.14
R5685:Slf1	UTSW	13	77,083,479 (GRCm38)	missense	possibly damaging	0.88
R5792:Slf1	UTSW	13	77,066,737 (GRCm38)	missense	probably benign	0.03
R5856:Slf1	UTSW	13	77,106,087 (GRCm38)	missense	possibly damaging	0.63
R6109:Slf1	UTSW	13	77,126,680 (GRCm38)	missense	probably damaging	0.99
R6245:Slf1	UTSW	13	77,084,383 (GRCm38)	missense	probably damaging	1.00
R6338:Slf1	UTSW	13	77,084,462 (GRCm38)	critical splice acceptor site	probably null
R6438:Slf1	UTSW	13	77,066,606 (GRCm38)	missense	probably damaging	1.00
R6487:Slf1	UTSW	13	77,066,617 (GRCm38)	missense	probably damaging	1.00
R6597:Slf1	UTSW	13	77,049,129 (GRCm38)	missense	probably benign	0.01
R6600:Slf1	UTSW	13	77,083,536 (GRCm38)	missense	probably benign	0.00
R6661:Slf1	UTSW	13	77,043,845 (GRCm38)	missense	probably damaging	1.00
R7268:Slf1	UTSW	13	77,066,707 (GRCm38)	missense	probably damaging	1.00
R7308:Slf1	UTSW	13	77,051,168 (GRCm38)	missense	probably benign	0.19
R7355:Slf1	UTSW	13	77,091,303 (GRCm38)	missense	probably damaging	1.00
R7546:Slf1	UTSW	13	77,049,192 (GRCm38)	missense	probably benign
R7807:Slf1	UTSW	13	77,046,704 (GRCm38)	missense	probably damaging	1.00
R8175:Slf1	UTSW	13	77,112,671 (GRCm38)	missense	probably damaging	1.00
R8385:Slf1	UTSW	13	77,105,990 (GRCm38)	missense	probably benign
R8698:Slf1	UTSW	13	77,049,165 (GRCm38)	missense	possibly damaging	0.78
R8770:Slf1	UTSW	13	77,046,647 (GRCm38)	missense	probably damaging	1.00
R8786:Slf1	UTSW	13	77,126,687 (GRCm38)	missense	possibly damaging	0.93
R8796:Slf1	UTSW	13	77,066,665 (GRCm38)	missense	probably benign	0.00
R8932:Slf1	UTSW	13	77,046,574 (GRCm38)	missense	probably damaging	1.00
R9132:Slf1	UTSW	13	77,100,954 (GRCm38)	missense	probably benign	0.24
R9243:Slf1	UTSW	13	77,125,456 (GRCm38)	missense	possibly damaging	0.95
R9274:Slf1	UTSW	13	77,043,550 (GRCm38)	makesense	probably null
R9286:Slf1	UTSW	13	77,043,813 (GRCm38)	missense	probably damaging	0.99
R9416:Slf1	UTSW	13	77,046,537 (GRCm38)	missense
R9612:Slf1	UTSW	13	77,049,085 (GRCm38)	critical splice donor site	probably null
X0018:Slf1	UTSW	13	77,051,238 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTTGCCAATCTCCACATG -3'
(R):5'- TCCTTCAGCATCGTACAATTTG -3'

Sequencing Primer
(F):5'- GTCCGTTTGACAGCGCATCATG -3'
(R):5'- AGAAGCAATTTTCTGGTCATATTCC -3'

Posted On

2014-10-15