Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:Slf2'

379874

Institutional Source

Beutler Lab

Gene Symbol

Slf2

Ensembl Gene

ENSMUSG00000036097

Gene Name

SMC5-SMC6 complex localization factor 2

Synonyms

Fam178a, 6030443O07Rik

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R4914 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44931119-44983787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44971661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1022 (D1022E)

Ref Sequence

ENSEMBL: ENSMUSP00000093758 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000096053
AA Change: D1022E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: D1022E

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	G	5: 109,678,530 (GRCm38)	S59P	probably damaging	Het
Ace	G	A	11: 105,979,597 (GRCm38)	V281M	probably damaging	Het
Ap1b1	C	T	11: 5,024,400 (GRCm38)	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,423,125 (GRCm38)	E171G	probably benign	Het
Arhgef1	T	A	7: 24,923,839 (GRCm38)	L436Q	probably damaging	Het
Atxn2	T	A	5: 121,749,096 (GRCm38)	D276E	probably damaging	Het
AU040320	A	T	4: 126,835,676 (GRCm38)	K544*	probably null	Het
Baz2b	T	A	2: 59,914,043 (GRCm38)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,378,886 (GRCm38)	D324G	probably damaging	Het
Bdp1	A	G	13: 100,056,336 (GRCm38)	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,827,471 (GRCm38)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,314,106 (GRCm38)		probably null	Het
Cabs1	T	C	5: 87,980,437 (GRCm38)	Y316H	probably damaging	Het
Carmil2	A	G	8: 105,693,543 (GRCm38)	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,218,219 (GRCm38)	P86Q	probably benign	Het
Cdh26	T	C	2: 178,449,821 (GRCm38)	S58P	probably benign	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Dclk2	A	T	3: 86,824,742 (GRCm38)		probably null	Het
Dennd5a	A	G	7: 109,901,089 (GRCm38)	F943S	probably damaging	Het
Disp2	A	T	2: 118,790,454 (GRCm38)	S556C	probably damaging	Het
Dpp4	A	T	2: 62,347,892 (GRCm38)	M632K	probably benign	Het
E030030I06Rik	G	A	10: 22,114,298 (GRCm38)	T192M	possibly damaging	Het
Ece2	C	T	16: 20,644,070 (GRCm38)	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,146,592 (GRCm38)	D299G	probably benign	Het
Emc1	C	T	4: 139,375,165 (GRCm38)	R924*	probably null	Het
Etaa1	A	T	11: 17,946,532 (GRCm38)	S528R	probably benign	Het
Exoc2	A	T	13: 30,876,813 (GRCm38)	N569K	probably benign	Het
Fasn	T	G	11: 120,816,646 (GRCm38)	N799T	probably benign	Het
Fbxo3	T	G	2: 104,054,966 (GRCm38)	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,438,177 (GRCm38)	V329I	probably benign	Het
Fer1l4	T	C	2: 156,031,300 (GRCm38)	K1287E	probably benign	Het
Fermt1	A	G	2: 132,906,840 (GRCm38)	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,751,169 (GRCm38)	T189A	probably benign	Het
Fut8	G	T	12: 77,475,044 (GRCm38)	A486S	probably damaging	Het
G6pd2	T	A	5: 61,810,329 (GRCm38)	Y482*	probably null	Het
Gfra1	A	T	19: 58,267,090 (GRCm38)	S308R	probably damaging	Het
Glp2r	G	T	11: 67,757,593 (GRCm38)	Y94*	probably null	Het
Gper1	A	G	5: 139,426,868 (GRCm38)	I323V	probably benign	Het
Grm5	C	A	7: 88,130,129 (GRCm38)	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,150,529 (GRCm38)	T85A	probably benign	Het
Hgsnat	A	G	8: 25,964,838 (GRCm38)	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,799,452 (GRCm38)	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,685,116 (GRCm38)	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,218,971 (GRCm38)	N344D	probably damaging	Het
Kif1c	A	G	11: 70,708,855 (GRCm38)	E471G	probably damaging	Het
Lalba	T	A	15: 98,482,180 (GRCm38)	N63I	probably benign	Het
Mcoln1	T	A	8: 3,507,483 (GRCm38)	L163*	probably null	Het
Mllt1	T	C	17: 56,899,813 (GRCm38)	T344A	probably benign	Het
Mpzl2	T	A	9: 45,043,848 (GRCm38)	D114E	probably benign	Het
Myef2	T	A	2: 125,109,739 (GRCm38)	K259*	probably null	Het
Myh8	C	A	11: 67,292,684 (GRCm38)	D740E	probably damaging	Het
Myo1b	A	T	1: 51,824,208 (GRCm38)		probably null	Het
Nfix	T	C	8: 84,771,829 (GRCm38)	I172V	probably benign	Het
Olfr1369-ps1	A	T	13: 21,116,397 (GRCm38)	Q235L	probably benign	Het
Olfr1459	T	A	19: 13,145,991 (GRCm38)	I223L	possibly damaging	Het
Olfr362	A	T	2: 37,105,158 (GRCm38)	I164N	possibly damaging	Het
Olfr401	A	T	11: 74,121,879 (GRCm38)	I197F	probably benign	Het
Olfr90	T	C	17: 37,085,991 (GRCm38)	Y58C	probably damaging	Het
Orc1	T	C	4: 108,604,558 (GRCm38)	F584S	probably damaging	Het
Osgin1	C	A	8: 119,442,544 (GRCm38)	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,715,328 (GRCm38)	V1522L	probably benign	Het
Phactr1	A	G	13: 43,133,963 (GRCm38)	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,762,117 (GRCm38)	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,510,777 (GRCm38)	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,537,838 (GRCm38)	V14A	probably damaging	Het
Prkcd	A	T	14: 30,605,438 (GRCm38)		probably null	Het
Ranbp17	T	C	11: 33,213,425 (GRCm38)	S1082G	probably benign	Het
Rere	T	A	4: 150,619,144 (GRCm38)	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,510,264 (GRCm38)	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,739,550 (GRCm38)		probably benign	Het
Scin	T	A	12: 40,069,374 (GRCm38)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,461,455 (GRCm38)	N1649S	probably damaging	Het
Slain2	T	A	5: 72,958,266 (GRCm38)	M448K	probably benign	Het
Slc25a54	T	C	3: 109,111,079 (GRCm38)	F292L	probably benign	Het
Slc4a1	A	G	11: 102,352,453 (GRCm38)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,669,370 (GRCm38)	V334I	probably benign	Het
Smg8	T	C	11: 87,080,710 (GRCm38)	E745G	probably damaging	Het
Smyd1	T	G	6: 71,219,337 (GRCm38)	I322L	probably benign	Het
Snx13	G	A	12: 35,132,033 (GRCm38)	V694I	possibly damaging	Het
Sox6	T	C	7: 115,476,964 (GRCm38)	D814G	probably damaging	Het
Spag6	A	T	2: 18,745,549 (GRCm38)	I469F	probably benign	Het
Spsb2	A	C	6: 124,809,748 (GRCm38)	E148A	probably benign	Het
Srprb	C	A	9: 103,201,948 (GRCm38)	V747L	possibly damaging	Het
Stam	A	G	2: 14,102,416 (GRCm38)	E16G	probably damaging	Het
Taar5	A	T	10: 23,971,570 (GRCm38)	I289F	possibly damaging	Het
Tgif1	C	T	17: 70,845,247 (GRCm38)	R70H	probably damaging	Het
Tmem2	G	A	19: 21,809,289 (GRCm38)	V472I	probably benign	Het
Top2a	A	T	11: 99,002,960 (GRCm38)	L1036H	probably damaging	Het
Tph1	T	A	7: 46,653,859 (GRCm38)	I232F	probably damaging	Het
Ttn	T	C	2: 76,746,831 (GRCm38)	T24573A	probably damaging	Het
Tub	C	T	7: 109,020,954 (GRCm38)	R102*	probably null	Het
Ube2n	T	A	10: 95,541,745 (GRCm38)	W129R	possibly damaging	Het
Usp8	A	T	2: 126,720,140 (GRCm38)	K85*	probably null	Het
Vmn2r81	A	T	10: 79,270,523 (GRCm38)	K445M	probably null	Het
Vps45	T	C	3: 96,019,631 (GRCm38)	T535A	probably damaging	Het
Wdr63	A	G	3: 146,066,827 (GRCm38)	I488T	probably damaging	Het
Zfp157	T	C	5: 138,456,295 (GRCm38)	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,127,701 (GRCm38)	C228*	probably null	Het
Zfp791	T	A	8: 85,110,951 (GRCm38)	I95L	probably benign	Het

Other mutations in Slf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Slf2	APN	19	44,973,267 (GRCm38)	critical splice donor site	probably null
IGL01904:Slf2	APN	19	44,949,141 (GRCm38)	critical splice donor site	probably null
IGL02429:Slf2	APN	19	44,941,728 (GRCm38)	missense	probably benign
IGL02899:Slf2	APN	19	44,942,020 (GRCm38)	missense	probably benign	0.26
Evidentiary	UTSW	19	44,938,424 (GRCm38)	splice site	probably null
BB004:Slf2	UTSW	19	44,935,301 (GRCm38)	missense	probably damaging	0.97
BB014:Slf2	UTSW	19	44,935,301 (GRCm38)	missense	probably damaging	0.97
R0060:Slf2	UTSW	19	44,948,004 (GRCm38)	missense	probably damaging	1.00
R0731:Slf2	UTSW	19	44,975,726 (GRCm38)	splice site	probably benign
R1158:Slf2	UTSW	19	44,931,416 (GRCm38)	missense	probably damaging	0.99
R1590:Slf2	UTSW	19	44,942,073 (GRCm38)	nonsense	probably null
R1608:Slf2	UTSW	19	44,949,001 (GRCm38)	missense	probably benign	0.08
R1823:Slf2	UTSW	19	44,935,248 (GRCm38)	missense	possibly damaging	0.86
R2511:Slf2	UTSW	19	44,941,606 (GRCm38)	missense	possibly damaging	0.86
R3040:Slf2	UTSW	19	44,980,569 (GRCm38)	missense	probably damaging	0.99
R3236:Slf2	UTSW	19	44,942,334 (GRCm38)	missense	probably benign	0.33
R3237:Slf2	UTSW	19	44,942,334 (GRCm38)	missense	probably benign	0.33
R3552:Slf2	UTSW	19	44,934,951 (GRCm38)	nonsense	probably null
R3754:Slf2	UTSW	19	44,973,237 (GRCm38)	missense	probably benign
R4683:Slf2	UTSW	19	44,935,481 (GRCm38)	missense	probably benign	0.22
R4757:Slf2	UTSW	19	44,935,058 (GRCm38)	missense	probably benign
R4782:Slf2	UTSW	19	44,934,925 (GRCm38)	splice site	probably null
R4915:Slf2	UTSW	19	44,971,661 (GRCm38)	missense	probably damaging	0.96
R4916:Slf2	UTSW	19	44,971,661 (GRCm38)	missense	probably damaging	0.96
R4917:Slf2	UTSW	19	44,971,661 (GRCm38)	missense	probably damaging	0.96
R4918:Slf2	UTSW	19	44,971,661 (GRCm38)	missense	probably damaging	0.96
R5069:Slf2	UTSW	19	44,935,253 (GRCm38)	missense	possibly damaging	0.94
R5092:Slf2	UTSW	19	44,952,084 (GRCm38)	missense	probably benign	0.14
R5215:Slf2	UTSW	19	44,948,037 (GRCm38)	missense	probably damaging	0.99
R5276:Slf2	UTSW	19	44,935,161 (GRCm38)	missense	possibly damaging	0.84
R5656:Slf2	UTSW	19	44,973,235 (GRCm38)	missense	probably benign	0.13
R6132:Slf2	UTSW	19	44,960,861 (GRCm38)	missense	possibly damaging	0.60
R6358:Slf2	UTSW	19	44,935,425 (GRCm38)	missense	probably benign	0.34
R6481:Slf2	UTSW	19	44,973,164 (GRCm38)	missense	probably benign	0.01
R6809:Slf2	UTSW	19	44,943,468 (GRCm38)	missense	probably damaging	0.98
R7263:Slf2	UTSW	19	44,938,424 (GRCm38)	splice site	probably null
R7912:Slf2	UTSW	19	44,942,243 (GRCm38)	missense	probably damaging	0.96
R7914:Slf2	UTSW	19	44,959,060 (GRCm38)	missense	possibly damaging	0.71
R7927:Slf2	UTSW	19	44,935,301 (GRCm38)	missense	probably damaging	0.97
R8006:Slf2	UTSW	19	44,942,317 (GRCm38)	missense	probably damaging	0.99
R8154:Slf2	UTSW	19	44,935,157 (GRCm38)	missense	possibly damaging	0.94
R8746:Slf2	UTSW	19	44,973,624 (GRCm38)	missense	probably damaging	1.00
R9075:Slf2	UTSW	19	44,942,421 (GRCm38)	missense	probably damaging	0.99
R9352:Slf2	UTSW	19	44,943,518 (GRCm38)	missense	probably null	0.97
R9354:Slf2	UTSW	19	44,948,032 (GRCm38)	missense	probably damaging	0.98
R9369:Slf2	UTSW	19	44,935,514 (GRCm38)	nonsense	probably null
R9412:Slf2	UTSW	19	44,942,021 (GRCm38)	missense	probably benign	0.31
R9743:Slf2	UTSW	19	44,942,133 (GRCm38)	missense	probably benign	0.40
R9778:Slf2	UTSW	19	44,973,227 (GRCm38)	missense	probably benign	0.04
Z1176:Slf2	UTSW	19	44,941,665 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCTTCTACAGCCCTGGGAG -3'
(R):5'- ATGGGGTAGAGGCTATACTATCTTC -3'

Sequencing Primer
(F):5'- TTCTACAGCCCTGGGAGAGAGAC -3'
(R):5'- TGTAGACCAGGTTGCCCTTGAAC -3'

Posted On

2016-04-15