Mutagenetix > Incidental Mutation

Incidental Mutation 'R3754:Slf2'

271368

Institutional Source

Beutler Lab

Gene Symbol

Slf2

Ensembl Gene

ENSMUSG00000036097

Gene Name

SMC5-SMC6 complex localization factor 2

Synonyms

6030443O07Rik, Fam178a

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R3754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44919590-44971738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44961676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1065 (D1065G)

Ref Sequence

ENSEMBL: ENSMUSP00000093758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096053]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096053
AA Change: D1065G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: D1065G

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
low complexity region	211	226	N/A	INTRINSIC
coiled coil region	239	266	N/A	INTRINSIC
low complexity region	495	514	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	549	568	N/A	INTRINSIC
low complexity region	572	582	N/A	INTRINSIC
low complexity region	601	616	N/A	INTRINSIC
Pfam:FAM178	647	1021	3.9e-146	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.7%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap3	T	C	4: 135,956,766 (GRCm39)		probably null	Het
Atp12a	G	A	14: 56,610,045 (GRCm39)	V182I	probably benign	Het
Gad2	A	T	2: 22,571,352 (GRCm39)	D430V	possibly damaging	Het
Hr	A	G	14: 70,805,264 (GRCm39)	E1002G	probably damaging	Het
Itpkc	G	T	7: 26,927,857 (GRCm39)	P19Q	probably damaging	Het
Lrrc72	A	G	12: 36,262,567 (GRCm39)	S42P	probably benign	Het
Med1	A	G	11: 98,057,548 (GRCm39)	V318A	possibly damaging	Het
Myef2l	G	A	3: 10,153,575 (GRCm39)	V115I	possibly damaging	Het
Nek11	A	T	9: 105,191,917 (GRCm39)	N164K	probably damaging	Het
Neurod2	A	G	11: 98,218,526 (GRCm39)	S213P	probably damaging	Het
Nhsl1	A	G	10: 18,391,782 (GRCm39)	N179D	probably damaging	Het
Nr2f2	T	C	7: 70,007,769 (GRCm39)	I238V	probably benign	Het
Rpl37	C	A	15: 5,146,770 (GRCm39)	T2K	possibly damaging	Het
Smim5	T	C	11: 115,796,549 (GRCm39)	C57R	probably damaging	Het
Soat2	T	A	15: 102,065,513 (GRCm39)	V236D	probably damaging	Het
Teddm3	C	T	16: 20,971,898 (GRCm39)	D224N	possibly damaging	Het
Tm2d2	G	A	8: 25,510,494 (GRCm39)	V118I	probably damaging	Het
Ttc22	C	A	4: 106,496,278 (GRCm39)	R443S	probably damaging	Het
Upf1	A	G	8: 70,792,464 (GRCm39)	I368T	probably benign	Het
Xrn1	G	T	9: 95,849,841 (GRCm39)	D129Y	probably damaging	Het
Zfp109	A	G	7: 23,929,181 (GRCm39)	M76T	probably benign	Het
Znrf1	G	A	8: 112,345,843 (GRCm39)	V76M	probably damaging	Het

Other mutations in Slf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Slf2	APN	19	44,961,706 (GRCm39)	critical splice donor site	probably null
IGL01904:Slf2	APN	19	44,937,580 (GRCm39)	critical splice donor site	probably null
IGL02429:Slf2	APN	19	44,930,167 (GRCm39)	missense	probably benign
IGL02899:Slf2	APN	19	44,930,459 (GRCm39)	missense	probably benign	0.26
Evidentiary	UTSW	19	44,926,863 (GRCm39)	splice site	probably null
BB004:Slf2	UTSW	19	44,923,740 (GRCm39)	missense	probably damaging	0.97
BB014:Slf2	UTSW	19	44,923,740 (GRCm39)	missense	probably damaging	0.97
R0060:Slf2	UTSW	19	44,936,443 (GRCm39)	missense	probably damaging	1.00
R0731:Slf2	UTSW	19	44,964,165 (GRCm39)	splice site	probably benign
R1158:Slf2	UTSW	19	44,919,855 (GRCm39)	missense	probably damaging	0.99
R1590:Slf2	UTSW	19	44,930,512 (GRCm39)	nonsense	probably null
R1608:Slf2	UTSW	19	44,937,440 (GRCm39)	missense	probably benign	0.08
R1823:Slf2	UTSW	19	44,923,687 (GRCm39)	missense	possibly damaging	0.86
R2511:Slf2	UTSW	19	44,930,045 (GRCm39)	missense	possibly damaging	0.86
R3040:Slf2	UTSW	19	44,969,008 (GRCm39)	missense	probably damaging	0.99
R3236:Slf2	UTSW	19	44,930,773 (GRCm39)	missense	probably benign	0.33
R3237:Slf2	UTSW	19	44,930,773 (GRCm39)	missense	probably benign	0.33
R3552:Slf2	UTSW	19	44,923,390 (GRCm39)	nonsense	probably null
R4683:Slf2	UTSW	19	44,923,920 (GRCm39)	missense	probably benign	0.22
R4757:Slf2	UTSW	19	44,923,497 (GRCm39)	missense	probably benign
R4782:Slf2	UTSW	19	44,923,364 (GRCm39)	splice site	probably null
R4914:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4915:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4916:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4917:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R4918:Slf2	UTSW	19	44,960,100 (GRCm39)	missense	probably damaging	0.96
R5069:Slf2	UTSW	19	44,923,692 (GRCm39)	missense	possibly damaging	0.94
R5092:Slf2	UTSW	19	44,940,523 (GRCm39)	missense	probably benign	0.14
R5215:Slf2	UTSW	19	44,936,476 (GRCm39)	missense	probably damaging	0.99
R5276:Slf2	UTSW	19	44,923,600 (GRCm39)	missense	possibly damaging	0.84
R5656:Slf2	UTSW	19	44,961,674 (GRCm39)	missense	probably benign	0.13
R6132:Slf2	UTSW	19	44,949,300 (GRCm39)	missense	possibly damaging	0.60
R6358:Slf2	UTSW	19	44,923,864 (GRCm39)	missense	probably benign	0.34
R6481:Slf2	UTSW	19	44,961,603 (GRCm39)	missense	probably benign	0.01
R6809:Slf2	UTSW	19	44,931,907 (GRCm39)	missense	probably damaging	0.98
R7263:Slf2	UTSW	19	44,926,863 (GRCm39)	splice site	probably null
R7912:Slf2	UTSW	19	44,930,682 (GRCm39)	missense	probably damaging	0.96
R7914:Slf2	UTSW	19	44,947,499 (GRCm39)	missense	possibly damaging	0.71
R7927:Slf2	UTSW	19	44,923,740 (GRCm39)	missense	probably damaging	0.97
R8006:Slf2	UTSW	19	44,930,756 (GRCm39)	missense	probably damaging	0.99
R8154:Slf2	UTSW	19	44,923,596 (GRCm39)	missense	possibly damaging	0.94
R8746:Slf2	UTSW	19	44,962,063 (GRCm39)	missense	probably damaging	1.00
R9075:Slf2	UTSW	19	44,930,860 (GRCm39)	missense	probably damaging	0.99
R9352:Slf2	UTSW	19	44,931,957 (GRCm39)	missense	probably null	0.97
R9354:Slf2	UTSW	19	44,936,471 (GRCm39)	missense	probably damaging	0.98
R9369:Slf2	UTSW	19	44,923,953 (GRCm39)	nonsense	probably null
R9412:Slf2	UTSW	19	44,930,460 (GRCm39)	missense	probably benign	0.31
R9743:Slf2	UTSW	19	44,930,572 (GRCm39)	missense	probably benign	0.40
R9778:Slf2	UTSW	19	44,961,666 (GRCm39)	missense	probably benign	0.04
Z1176:Slf2	UTSW	19	44,930,104 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCATTTGAGGACTTTGGAGG -3'
(R):5'- GCCACAGGAGAGCCTATTAC -3'

Sequencing Primer
(F):5'- CATTTGAGGACTTTGGAGGAAACAG -3'
(R):5'- GAGAGCCTATTACATCACTAACAATG -3'

Posted On

2015-03-18