Mutagenetix > Incidental Mutation

Incidental Mutation 'R4178:Slf1'

319600

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

040864-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4178 (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 77191688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1049 (S1049P)

Ref Sequence

ENSEMBL: ENSMUSP00000118312 (fasta)

Gene Model

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

AlphaFold

Q8R3P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000151524
AA Change: S1049P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: S1049P

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxrl	A	G	14: 33,776,928 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,770,679 (GRCm39)	V410E	probably damaging	Het
C6	G	A	15: 4,764,621 (GRCm39)	V106I	probably benign	Het
Cdhr1	A	C	14: 36,804,896 (GRCm39)		probably null	Het
Cfap44	T	A	16: 44,272,216 (GRCm39)	L1323Q	possibly damaging	Het
Ehd4	T	A	2: 119,984,829 (GRCm39)	Y43F	probably damaging	Het
Eno1	T	C	4: 150,328,490 (GRCm39)	I90T	possibly damaging	Het
Epb41l1	A	G	2: 156,363,477 (GRCm39)	Y662C	probably benign	Het
Fkbp14	A	G	6: 54,566,299 (GRCm39)	L103P	probably damaging	Het
Gm10322	C	A	10: 59,452,052 (GRCm39)	N56K	probably benign	Het
Iqcd	C	A	5: 120,740,476 (GRCm39)	T269K	probably damaging	Het
Kat6b	T	A	14: 21,668,972 (GRCm39)	C249*	probably null	Het
Kcnab2	T	C	4: 152,489,058 (GRCm39)	R109G	probably null	Het
Obox7	A	G	7: 14,398,032 (GRCm39)	Q24R	probably damaging	Het
Obox7	C	A	7: 14,398,031 (GRCm39)	Q24K	probably damaging	Het
Or5p1	A	G	7: 107,916,565 (GRCm39)	N155D	probably damaging	Het
Or5p68	G	A	7: 107,945,765 (GRCm39)	T141I	probably benign	Het
Or8g18	A	C	9: 39,149,375 (GRCm39)	L115*	probably null	Het
Rasgrf2	C	T	13: 92,038,717 (GRCm39)	G1043D	probably damaging	Het
Smc1b	A	T	15: 85,004,848 (GRCm39)	F409I	possibly damaging	Het
Tab2	A	G	10: 7,795,123 (GRCm39)	V453A	probably damaging	Het
Ubr4	A	G	4: 139,120,725 (GRCm39)	Y338C	probably damaging	Het
Usp6nl	A	G	2: 6,445,787 (GRCm39)	E588G	probably benign	Het
Vcan	T	C	13: 89,873,666 (GRCm39)	R63G	probably damaging	Het
Zfp775	A	G	6: 48,590,187 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,966,940 (GRCm39)	C1010R	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
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'- TGTTTCTGAGTTAAATCCTGAGCCC -3'
(R):5'- GGTCATCTAAATGAGTTGCTTATGG -3'

Sequencing Primer
(F):5'- CCTGAGCCCATATTTTAGATCTGTAG -3'
(R):5'- GCTTATGGCATGCAATAGTGATACAG -3'

Posted On

2015-06-10