Mutagenetix > Incidental Mutation

Incidental Mutation 'R3108:Slf1'

263678

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

040582-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77191207-77283592 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 77274840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123982 (fasta)

Gene Model

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

AlphaFold

Q8R3P9

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000159300

SMART Domains

Protein: ENSMUSP00000124865
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

Predicted Effect

probably benign
Transcript: ENSMUST00000159462

SMART Domains

Protein: ENSMUSP00000124543
Gene: ENSMUSG00000021597

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: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	C	T	7: 78,973,333 (GRCm39)	S104L	probably benign	Het
Adcy1	A	G	11: 7,119,453 (GRCm39)	Y1032C	probably damaging	Het
Ap4e1	T	C	2: 126,898,226 (GRCm39)		probably null	Het
Ccnb1	C	T	13: 100,918,132 (GRCm39)		probably null	Het
Cfap54	T	C	10: 92,830,545 (GRCm39)	N1197S	probably benign	Het
Cnot1	A	G	8: 96,462,377 (GRCm39)	V1691A	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dennd4a	A	G	9: 64,819,669 (GRCm39)	K1760R	probably benign	Het
Drd4	T	A	7: 140,872,195 (GRCm39)	V82E	possibly damaging	Het
Dtx2	G	A	5: 136,050,670 (GRCm39)	V323M	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fat1	G	A	8: 45,498,210 (GRCm39)		probably null	Het
Igkv11-125	T	C	6: 67,890,855 (GRCm39)	F58L	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,076 (GRCm39)	S279P	possibly damaging	Het
Muc5b	C	T	7: 141,412,496 (GRCm39)	T1814M	unknown	Het
Nkpd1	G	A	7: 19,256,903 (GRCm39)	M227I	probably damaging	Het
Ntrk3	C	T	7: 78,110,263 (GRCm39)	V324M	probably benign	Het
Nup155	C	A	15: 8,146,790 (GRCm39)	T210K	probably null	Het
Or52s1b	T	A	7: 102,822,293 (GRCm39)	M184L	probably damaging	Het
Or9s18	T	C	13: 65,300,875 (GRCm39)	V279A	possibly damaging	Het
Pak4	A	T	7: 28,263,769 (GRCm39)	Y322*	probably null	Het
Raph1	G	A	1: 60,532,545 (GRCm39)	A696V	probably benign	Het
Satb1	A	T	17: 52,089,810 (GRCm39)	Y346N	possibly damaging	Het
Serpina1a	A	T	12: 103,820,100 (GRCm39)	I382N	probably damaging	Het
Slc34a3	G	T	2: 25,119,257 (GRCm39)	Q538K	probably benign	Het
Ston1	G	T	17: 88,943,583 (GRCm39)	E330*	probably null	Het
Trhde	C	T	10: 114,427,971 (GRCm39)	E442K	probably damaging	Het
Unc45a	A	G	7: 79,981,294 (GRCm39)		probably benign	Het
Zfp169	A	G	13: 48,643,472 (GRCm39)	S552P	possibly damaging	Het
Zfp229	T	A	17: 21,965,797 (GRCm39)	C676S	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
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'- ACTTCTACCTTACGTTATCAAAGGG -3'
(R):5'- CATAGGCCTCTATTGTTGTGTAAAC -3'

Sequencing Primer
(F):5'- CACCTCACTCTTAATAAAAGTG -3'
(R):5'- AGTATAATACTGGAGGGTTTCAATGG -3'

Posted On

2015-02-05