Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Slf2'

388596

Institutional Source

Beutler Lab

Gene Symbol

Slf2

Ensembl Gene

ENSMUSG00000036097

Gene Name

SMC5-SMC6 complex localization factor 2

Synonyms

6030443O07Rik, Fam178a

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44919590-44971738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44923692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 169 (S169T)

Ref Sequence

ENSEMBL: ENSMUSP00000093758 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096053
AA Change: S169T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: S169T

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	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
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'- AGGCTTTCATGAAAGGTGGG -3'
(R):5'- CTCTCGGCAGTAAGAAGCTAATGAC -3'

Sequencing Primer
(F):5'- CTTTCATGAAAGGTGGGAAGGAGC -3'
(R):5'- GCTAATGACAGCTGGAACCTAGC -3'

Posted On

2016-06-06