Mutagenetix > Incidental Mutation

Incidental Mutation 'R5215:Slf2'

403458

Institutional Source

Beutler Lab

Gene Symbol

Slf2

Ensembl Gene

ENSMUSG00000036097

Gene Name

SMC5-SMC6 complex localization factor 2

Synonyms

6030443O07Rik, Fam178a

MMRRC Submission

042788-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R5215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44919590-44971738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44936476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 707 (L707R)

Ref Sequence

ENSEMBL: ENSMUSP00000093758 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083225

Predicted Effect

probably damaging
Transcript: ENSMUST00000096053
AA Change: L707R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: L707R

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

Meta Mutation Damage Score

0.0792

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	C	A	9: 106,120,574 (GRCm39)	A73S	probably benign	Het
Aldoart2	G	A	12: 55,612,204 (GRCm39)	R43Q	probably benign	Het
Ano4	T	C	10: 89,153,165 (GRCm39)	H49R	possibly damaging	Het
Atic	T	C	1: 71,603,666 (GRCm39)	S161P	probably damaging	Het
Atp6v1c2	T	C	12: 17,341,659 (GRCm39)	E244G	probably benign	Het
Cd164l2	C	A	4: 132,948,789 (GRCm39)	L42I	unknown	Het
Cdc42ep2	T	C	19: 5,968,238 (GRCm39)	R156G	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdk5	T	A	5: 24,624,459 (GRCm39)	N265I	probably benign	Het
Cfap69	G	T	5: 5,639,133 (GRCm39)	N262K	possibly damaging	Het
Chd6	C	T	2: 160,791,873 (GRCm39)	V2495M	probably damaging	Het
Cps1	T	A	1: 67,205,539 (GRCm39)	F521I	possibly damaging	Het
Crb2	A	G	2: 37,683,765 (GRCm39)	E1089G	probably benign	Het
Decr1	T	C	4: 15,929,795 (GRCm39)	D166G	probably damaging	Het
Dhodh	G	A	8: 110,332,975 (GRCm39)		probably benign	Het
Dnaaf5	G	A	5: 139,147,632 (GRCm39)	V399I	probably benign	Het
Dnah11	T	C	12: 118,121,096 (GRCm39)	T526A	probably benign	Het
Drosha	T	C	15: 12,885,219 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,558,401 (GRCm39)	I49F	probably damaging	Het
Gabra1	T	C	11: 42,045,655 (GRCm39)	T152A	probably damaging	Het
Gigyf2	C	A	1: 87,292,988 (GRCm39)	T85K	probably damaging	Het
Gimap8	A	T	6: 48,628,017 (GRCm39)	Y258F	possibly damaging	Het
Glmn	A	G	5: 107,709,752 (GRCm39)	C351R	probably benign	Het
Gm10032	T	C	14: 67,029,998 (GRCm39)		noncoding transcript	Het
Gorasp2	G	A	2: 70,519,598 (GRCm39)	A328T	probably benign	Het
Grin1	A	T	2: 25,193,919 (GRCm39)	H392Q	probably benign	Het
Gzmn	A	G	14: 56,405,319 (GRCm39)	V55A	probably damaging	Het
Herc4	T	A	10: 63,124,876 (GRCm39)	S497T	probably benign	Het
Hrc	A	T	7: 44,985,515 (GRCm39)	D222V	probably damaging	Het
Iars2	T	C	1: 185,026,966 (GRCm39)	H761R	probably damaging	Het
Jmjd1c	T	A	10: 67,076,480 (GRCm39)	D2101E	possibly damaging	Het
Kcng1	C	T	2: 168,105,053 (GRCm39)	M264I	probably benign	Het
Klra14-ps	C	A	6: 130,134,646 (GRCm39)		noncoding transcript	Het
Krtap5-3	T	A	7: 141,755,974 (GRCm39)	C270*	probably null	Het
Lama3	A	G	18: 12,710,957 (GRCm39)	H3164R	probably damaging	Het
Lcor	T	C	19: 41,574,371 (GRCm39)	I1042T	probably damaging	Het
Mdn1	T	C	4: 32,741,418 (GRCm39)	M3840T	possibly damaging	Het
Mtor	A	T	4: 148,538,440 (GRCm39)	H166L	probably benign	Het
Mx1	T	C	16: 97,249,560 (GRCm39)	N556D	possibly damaging	Het
Oca2	A	T	7: 55,945,246 (GRCm39)	R285*	probably null	Het
Or12d13	T	A	17: 37,647,704 (GRCm39)	I140F	probably benign	Het
Or2at1	A	G	7: 99,416,717 (GRCm39)	E116G	probably damaging	Het
Or4k39	T	C	2: 111,239,631 (GRCm39)		noncoding transcript	Het
Or56a3b	G	A	7: 104,775,771 (GRCm39)	H246Y	probably damaging	Het
Or8g33	A	T	9: 39,337,919 (GRCm39)	Y149*	probably null	Het
Pan3	A	G	5: 147,391,915 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,104,745 (GRCm39)	V496M	probably damaging	Het
Pdcd2l	A	T	7: 33,892,314 (GRCm39)	V185D	possibly damaging	Het
Pgghg	T	C	7: 140,526,477 (GRCm39)	V623A	possibly damaging	Het
Pigu	C	A	2: 155,177,249 (GRCm39)		probably benign	Het
Pkmyt1	G	A	17: 23,951,566 (GRCm39)	R40Q	probably benign	Het
Prag1	G	A	8: 36,567,043 (GRCm39)	A65T	probably benign	Het
Prkdc	C	A	16: 15,589,985 (GRCm39)	T2616N	possibly damaging	Het
Prpf8	G	A	11: 75,391,030 (GRCm39)	E1360K	probably benign	Het
Ptprt	C	T	2: 162,120,084 (GRCm39)	V128M	probably damaging	Het
Rp1l1	C	T	14: 64,267,462 (GRCm39)	S1016L	probably benign	Het
Rprd1a	G	T	18: 24,621,257 (GRCm39)	D307E	probably damaging	Het
Slc11a1	A	T	1: 74,422,936 (GRCm39)		probably benign	Het
Slc22a16	T	A	10: 40,457,386 (GRCm39)	M209K	probably damaging	Het
Son	T	A	16: 91,453,563 (GRCm39)	M770K	probably damaging	Het
Taf6l	T	C	19: 8,755,417 (GRCm39)		probably benign	Het
Tbc1d2	C	A	4: 46,614,006 (GRCm39)	V692L	probably benign	Het
Tnpo3	C	T	6: 29,582,152 (GRCm39)		probably benign	Het
Txndc16	A	T	14: 45,448,597 (GRCm39)		probably benign	Het
Ubr1	T	C	2: 120,734,525 (GRCm39)	K1125R	probably benign	Het
Vmn2r9	A	G	5: 108,994,351 (GRCm39)	S433P	probably benign	Het
Zc3h12a	A	G	4: 125,020,706 (GRCm39)	S46P	probably benign	Het
Zwilch	T	G	9: 64,054,156 (GRCm39)	I490L	probably benign	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
R3754:Slf2	UTSW	19	44,961,676 (GRCm39)	missense	probably benign
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
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'- GCTTTTAGATCACAGCAAAAGCTG -3'
(R):5'- GTGCTAACACTTAGGCTGTAACTTG -3'

Sequencing Primer
(F):5'- TCTCTGAATTAAGGCCAGGC -3'
(R):5'- ACTTAGGCTGTAACTTGGTTTTAATG -3'

Posted On

2016-07-22