Mutagenetix > Incidental Mutation

Incidental Mutation 'R6438:Slf1'

518866

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

044576-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77191207-77283592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77214725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 654 (C654S)

Ref Sequence

ENSEMBL: ENSMUSP00000118312 (fasta)

Gene Model

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

AlphaFold

Q8R3P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000151524
AA Change: C654S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: C654S

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.0%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ado	A	T	10: 67,384,371 (GRCm39)	I78N	probably damaging	Het
Arhgap18	T	C	10: 26,648,694 (GRCm39)		probably null	Het
Arl11	A	G	14: 61,548,393 (GRCm39)	T68A	probably benign	Het
Atxn2	T	A	5: 121,917,495 (GRCm39)	I463N	probably damaging	Het
B3gnt4	G	A	5: 123,649,654 (GRCm39)	E340K	probably benign	Het
C1ra	C	T	6: 124,490,736 (GRCm39)	T43I	possibly damaging	Het
C6	T	A	15: 4,826,465 (GRCm39)	Y683N	possibly damaging	Het
Catspere2	T	C	1: 177,938,869 (GRCm39)	Y581H	possibly damaging	Het
Cdk12	T	A	11: 98,115,293 (GRCm39)	Y811*	probably null	Het
Cfap20dc	C	T	14: 8,431,701 (GRCm38)	V644M	probably damaging	Het
Chd9	A	T	8: 91,725,149 (GRCm39)	E1159D	probably benign	Het
Efcab7	T	A	4: 99,766,969 (GRCm39)	S505T	probably benign	Het
Erich3	A	T	3: 154,401,390 (GRCm39)	Y13F	probably damaging	Het
Esco1	A	T	18: 10,572,031 (GRCm39)	C770S	probably damaging	Het
Evpl	C	A	11: 116,120,927 (GRCm39)	R436L	probably benign	Het
Fam185a	T	A	5: 21,663,970 (GRCm39)		probably null	Het
Gm17078	A	G	14: 51,848,695 (GRCm39)	V14A	probably benign	Het
Hectd2	T	C	19: 36,596,242 (GRCm39)	*776Q	probably null	Het
Ldb2	T	C	5: 44,637,652 (GRCm39)	R219G	probably damaging	Het
Lrrn4	T	C	2: 132,712,062 (GRCm39)	E587G	probably damaging	Het
Malrd1	T	C	2: 15,619,017 (GRCm39)	S294P		Het
Map7	A	G	10: 20,143,003 (GRCm39)	E384G	unknown	Het
Miga1	T	C	3: 152,028,040 (GRCm39)	D163G	probably damaging	Het
Myo7b	G	A	18: 32,099,382 (GRCm39)	S1680F	probably damaging	Het
Nell2	C	T	15: 95,130,379 (GRCm39)	V665M	probably damaging	Het
Npas3	T	C	12: 54,115,481 (GRCm39)	V770A	probably damaging	Het
Pcm1	C	T	8: 41,778,418 (GRCm39)	R1818W	possibly damaging	Het
Slc4a9	T	A	18: 36,668,740 (GRCm39)	N701K	probably benign	Het
Slc5a9	A	G	4: 111,749,022 (GRCm39)	V187A	probably benign	Het
Srek1ip1	A	G	13: 104,973,878 (GRCm39)	Y95C	probably benign	Het
Synpo2l	A	G	14: 20,711,204 (GRCm39)	V472A	probably benign	Het
Tmem168	A	T	6: 13,602,673 (GRCm39)	I231N	probably benign	Het
Usp34	T	C	11: 23,314,266 (GRCm39)	M717T	probably benign	Het
Zfp672	T	C	11: 58,207,563 (GRCm39)	T253A	probably benign	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
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'- GTATGGGAGCATTATAGAATTTCCC -3'
(R):5'- CATTGTGGTGTATGTAATGAGAGAC -3'

Sequencing Primer
(F):5'- GGGAGCATTATAGAATTTCCCATTCC -3'
(R):5'- GTCATTGAACTCTCAAAATGGTTG -3'

Posted On

2018-05-24