Mutagenetix > Incidental Mutations

Incidental Mutation 'R6083:Smc6'

482325

Institutional Source

Beutler Lab

Gene Symbol

Smc6

Ensembl Gene

ENSMUSG00000020608

Gene Name

structural maintenance of chromosomes 6

Synonyms

2810489L22Rik, 3830418C19Rik, Smc6l1

MMRRC Submission

044242-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11265886-11319785 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11276353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 117 (K117R)

Ref Sequence

ENSEMBL: ENSMUSP00000151976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020931] [ENSMUST00000217906] [ENSMUST00000218022] [ENSMUST00000218866] [ENSMUST00000219776]

AlphaFold

Q924W5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020931
AA Change: K117R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: K117R

Domain	Start	End	E-Value	Type
Pfam:SMC_N	53	1077	4.7e-17	PFAM
Pfam:AAA_15	54	438	3.1e-9	PFAM
Pfam:AAA_23	56	398	5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217906

Predicted Effect

probably benign
Transcript: ENSMUST00000218022

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218866
AA Change: K117R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000219776

Meta Mutation Damage Score

0.1014

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (76/79)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	A	11: 58,878,851	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,963,996	I591F	unknown	Het
Ace	C	A	11: 105,985,267	Y816*	probably null	Het
Ahnak2	A	G	12: 112,782,612	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,782,999	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,907,751	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,992,748	T257A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,596,926	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,774,625	R305H	probably damaging	Het
Cyb5r4	C	T	9: 87,057,168	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,073,762	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,849,456	V394E	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Defb36	A	T	2: 152,604,488	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713	D263G	probably benign	Het
Dock10	T	C	1: 80,532,431	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,622,328		probably null	Het
Eif3e	A	G	15: 43,266,144	I196T	probably damaging	Het
Ercc4	T	A	16: 13,110,039	C24*	probably null	Het
Fmn1	A	G	2: 113,364,303	E116G	unknown	Het
Gnas	A	G	2: 174,297,862	M1V	probably null	Het
Grin2a	C	A	16: 9,579,540	M894I	probably benign	Het
Herc2	G	T	7: 56,228,505	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,755,293	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,755,294	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,712,056	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,619,817	F133C	possibly damaging	Het
Itih2	T	C	2: 10,108,894		probably benign	Het
Itsn1	T	C	16: 91,853,011	L191P	probably benign	Het
Kdr	T	C	5: 75,944,366	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,182,756	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,809,041	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,836,588	R38*	probably null	Het
Med13l	T	C	5: 118,721,486	V246A	possibly damaging	Het
Mlec	T	A	5: 115,148,049	T248S	probably benign	Het
Mslnl	T	A	17: 25,737,902	V54D	possibly damaging	Het
Muc16	G	A	9: 18,657,212	T1337I	unknown	Het
Nek7	C	T	1: 138,515,654	S187N	probably damaging	Het
Neto2	A	G	8: 85,640,585	V538A	probably benign	Het
Nktr	T	C	9: 121,750,136		probably benign	Het
Npy6r	A	G	18: 44,276,492	K327E	probably damaging	Het
Olfr1230	T	A	2: 89,297,024	D82V	probably damaging	Het
Olfr1245	T	C	2: 89,575,672	D18G	probably benign	Het
Olfr1463	A	T	19: 13,234,525	I92F	probably benign	Het
Olfr402	A	G	11: 74,155,570	M139V	possibly damaging	Het
Olfr705	A	G	7: 106,873,582	I221T	probably damaging	Het
Pcdhga4	A	T	18: 37,687,425	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,502,879	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,304,035	Y486*	probably null	Het
Plch2	A	G	4: 155,000,818	M272T	probably benign	Het
Rbm12	G	A	2: 156,097,726		probably benign	Het
Rgs19	T	C	2: 181,689,507	E111G	probably damaging	Het
Rhbdf1	T	C	11: 32,210,066	N145S	probably damaging	Het
Rnf4	T	A	5: 34,351,221		probably null	Het
Rpa1	T	C	11: 75,314,911	T207A	probably damaging	Het
Rufy4	A	C	1: 74,129,397	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,422,985	S717R	probably benign	Het
Sin3a	A	T	9: 57,107,540	I682F	probably damaging	Het
Sipa1l2	A	T	8: 125,468,473	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 76,147,597	I23V	unknown	Het
Slitrk5	A	G	14: 111,681,725	N927S	probably benign	Het
Sod2	G	A	17: 13,008,031		probably benign	Het
Stxbp1	A	G	2: 32,796,018	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,147,380	L209F	probably damaging	Het
Tll1	G	T	8: 64,038,586		probably null	Het
Tmem38b	T	C	4: 53,840,765	L60S	probably damaging	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Trim30b	A	G	7: 104,366,142	V13A	probably damaging	Het
Trip11	G	A	12: 101,889,742	T425I	probably benign	Het
Ttn	C	A	2: 76,889,973		probably benign	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Ush2a	T	A	1: 188,267,023	S177T	probably damaging	Het
Usp40	A	T	1: 87,978,559	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,272,719	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,354,758	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,196,318	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,581,881	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,406,503	I809N	probably damaging	Het
Wdr7	G	A	18: 63,728,469	G184D	probably damaging	Het
Wnk1	C	T	6: 120,037,601	G11D	probably damaging	Het
Zfp110	A	C	7: 12,844,675	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,815,931	V134A	probably damaging	Het

Other mutations in Smc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Smc6	APN	12	11299263	missense	possibly damaging	0.48
IGL00562:Smc6	APN	12	11301531	missense	probably benign	0.02
IGL00563:Smc6	APN	12	11301531	missense	probably benign	0.02
IGL01420:Smc6	APN	12	11291658	missense	probably benign	0.27
IGL02299:Smc6	APN	12	11290751	missense	probably benign	0.00
R0207:Smc6	UTSW	12	11283178	unclassified	probably benign
R0365:Smc6	UTSW	12	11283174	critical splice donor site	probably null
R0669:Smc6	UTSW	12	11289164	missense	probably benign	0.41
R0732:Smc6	UTSW	12	11290817	missense	probably damaging	0.96
R1398:Smc6	UTSW	12	11271879	splice site	probably benign
R1509:Smc6	UTSW	12	11279733	missense	possibly damaging	0.55
R1739:Smc6	UTSW	12	11317853	missense	probably benign	0.05
R1775:Smc6	UTSW	12	11309269	missense	probably benign	0.00
R1815:Smc6	UTSW	12	11294601	critical splice donor site	probably null
R1937:Smc6	UTSW	12	11299398	missense	probably benign	0.06
R2090:Smc6	UTSW	12	11289986	missense	probably benign	0.08
R2885:Smc6	UTSW	12	11276293	missense	probably damaging	0.99
R2886:Smc6	UTSW	12	11276293	missense	probably damaging	0.99
R2991:Smc6	UTSW	12	11289981	missense	probably damaging	0.96
R3825:Smc6	UTSW	12	11301516	splice site	probably benign
R3967:Smc6	UTSW	12	11298326	missense	probably benign	0.13
R3975:Smc6	UTSW	12	11274074	missense	probably damaging	0.99
R4660:Smc6	UTSW	12	11274007	missense	probably damaging	1.00
R5372:Smc6	UTSW	12	11282430	missense	probably damaging	1.00
R5412:Smc6	UTSW	12	11285399	missense	possibly damaging	0.88
R5523:Smc6	UTSW	12	11291539	missense	probably benign	0.31
R5643:Smc6	UTSW	12	11289994	missense	probably benign	0.18
R5644:Smc6	UTSW	12	11289994	missense	probably benign	0.18
R5782:Smc6	UTSW	12	11290834	missense	probably damaging	1.00
R6027:Smc6	UTSW	12	11306178	missense	probably benign	0.04
R6344:Smc6	UTSW	12	11297106	intron	probably benign
R6374:Smc6	UTSW	12	11305873	splice site	probably null
R6430:Smc6	UTSW	12	11309234	missense	probably benign	0.00
R6539:Smc6	UTSW	12	11297010	splice site	probably null
R6767:Smc6	UTSW	12	11271820	missense	possibly damaging	0.93
R7042:Smc6	UTSW	12	11309300	missense	probably damaging	1.00
R7128:Smc6	UTSW	12	11301631	missense	probably damaging	1.00
R7477:Smc6	UTSW	12	11271807	missense	probably benign
R7698:Smc6	UTSW	12	11283140	missense	possibly damaging	0.92
R7832:Smc6	UTSW	12	11317843	missense	probably benign	0.28
R7863:Smc6	UTSW	12	11289129	missense	probably benign	0.00
R8192:Smc6	UTSW	12	11299335	missense	probably benign	0.01
R8229:Smc6	UTSW	12	11291672	missense	probably benign	0.25
R8289:Smc6	UTSW	12	11274051	missense	probably benign	0.41
R9233:Smc6	UTSW	12	11309290	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GGTTGAGACAAATTCTGGGATG -3'
(R):5'- TCGAAAGCATGCTTCTTACTAGAG -3'

Posted On

2017-07-14