Mutagenetix > Incidental Mutation

Incidental Mutation 'R5643:Smc6'

440884

Institutional Source

Beutler Lab

Gene Symbol

Smc6

Ensembl Gene

ENSMUSG00000020608

Gene Name

structural maintenance of chromosomes 6

Synonyms

3830418C19Rik, Smc6l1, 2810489L22Rik

MMRRC Submission

043291-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11315887-11369786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11339995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 434 (N434K)

Ref Sequence

ENSEMBL: ENSMUSP00000020931 (fasta)

Gene Model

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

AlphaFold

Q924W5

Predicted Effect

probably benign
Transcript: ENSMUST00000020931
AA Change: N434K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: N434K

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: ENSMUST00000217930

Predicted Effect

probably benign
Transcript: ENSMUST00000217991

Predicted Effect

probably benign
Transcript: ENSMUST00000218022

Predicted Effect

probably benign
Transcript: ENSMUST00000218866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220289

Meta Mutation Damage Score

0.0917

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (110/117)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,021 (GRCm39)	K3102E	possibly damaging	Het
Akap13	T	C	7: 75,351,902 (GRCm39)		probably null	Het
Akp3	A	T	1: 87,055,485 (GRCm39)	T511S	unknown	Het
Alkal2	T	A	12: 30,934,889 (GRCm39)	L36Q	probably damaging	Het
Arhgef17	A	T	7: 100,529,218 (GRCm39)	V523E	probably damaging	Het
Asah1	G	T	8: 41,813,332 (GRCm39)	T27K	possibly damaging	Het
Bag2	A	G	1: 33,786,034 (GRCm39)	V96A	probably damaging	Het
Bicd1	C	T	6: 149,421,901 (GRCm39)	A874V	probably damaging	Het
C4b	T	C	17: 34,961,391 (GRCm39)	I189M	probably benign	Het
Calcr	A	G	6: 3,708,538 (GRCm39)	I216T	probably damaging	Het
Cdk5rap2	T	A	4: 70,184,970 (GRCm39)	D1160V	probably damaging	Het
Cep128	A	T	12: 91,315,625 (GRCm39)	I87K	probably damaging	Het
Cep170b	C	G	12: 112,707,275 (GRCm39)	H1256Q	probably benign	Het
Chd2	A	T	7: 73,134,232 (GRCm39)	V705E	probably damaging	Het
Clec12b	T	A	6: 129,356,923 (GRCm39)	I172L	probably benign	Het
Cobl	A	T	11: 12,256,948 (GRCm39)		probably benign	Het
Col5a2	T	A	1: 45,429,202 (GRCm39)	D972V	probably damaging	Het
Csrp1	A	T	1: 135,678,797 (GRCm39)	N174I	probably damaging	Het
Dnah7a	T	A	1: 53,444,866 (GRCm39)	H3946L	probably benign	Het
Dnajc21	A	T	15: 10,462,001 (GRCm39)	D133E	probably benign	Het
Dvl3	T	A	16: 20,345,026 (GRCm39)	I353N	probably damaging	Het
Elavl3	A	T	9: 21,930,029 (GRCm39)	S292T	probably benign	Het
Ephb2	T	C	4: 136,498,923 (GRCm39)	N52S	probably damaging	Het
Gaa	T	A	11: 119,171,361 (GRCm39)	M671K	possibly damaging	Het
Gabrg3	T	C	7: 56,423,032 (GRCm39)	D222G	possibly damaging	Het
Gk5	C	T	9: 96,022,709 (GRCm39)	Q182*	probably null	Het
Gm14403	A	T	2: 177,199,054 (GRCm39)	H50L	possibly damaging	Het
Gzma	T	C	13: 113,234,794 (GRCm39)	T66A	probably damaging	Het
Hint2	T	C	4: 43,656,445 (GRCm39)		probably benign	Het
Hnmt	A	T	2: 23,904,251 (GRCm39)	W137R	probably damaging	Het
Hoga1	T	C	19: 42,048,402 (GRCm39)	V90A	probably benign	Het
Idua	A	T	5: 108,828,090 (GRCm39)		probably benign	Het
Kif1a	A	C	1: 92,983,489 (GRCm39)	S669R	probably damaging	Het
Klhdc7b	A	T	15: 89,271,862 (GRCm39)	M915L	possibly damaging	Het
Klhl41	A	G	2: 69,500,815 (GRCm39)	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,633,420 (GRCm39)	C186S	probably damaging	Het
Lmo7	A	G	14: 102,166,772 (GRCm39)		probably benign	Het
Lrriq1	T	C	10: 103,051,301 (GRCm39)	M484V	probably benign	Het
Lzts1	A	G	8: 69,591,729 (GRCm39)	S140P	possibly damaging	Het
Mgat5b	T	A	11: 116,864,226 (GRCm39)	V464E	probably damaging	Het
Mms19	A	T	19: 41,944,305 (GRCm39)	D298E	possibly damaging	Het
Muc5ac	T	C	7: 141,347,452 (GRCm39)		probably null	Het
Mycbp2	T	A	14: 103,524,770 (GRCm39)	K597I	probably damaging	Het
Myo18a	C	A	11: 77,745,513 (GRCm39)	D1619E	probably benign	Het
Nfx1	T	C	4: 40,984,973 (GRCm39)	W366R	probably null	Het
Nipbl	C	T	15: 8,388,391 (GRCm39)	V410I	probably benign	Het
Or14j10	T	A	17: 37,935,323 (GRCm39)	I68F	probably benign	Het
Or4c101	T	A	2: 88,389,849 (GRCm39)	M1K	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or52h1	T	C	7: 103,829,091 (GRCm39)	I175V	probably benign	Het
Or5b95	A	T	19: 12,658,336 (GRCm39)	Y288F	probably damaging	Het
Or7g32	A	T	9: 19,388,853 (GRCm39)	M231K	probably benign	Het
Or8u10	T	C	2: 85,915,503 (GRCm39)	N206S	probably damaging	Het
Otog	A	T	7: 45,936,871 (GRCm39)	T1527S	probably damaging	Het
P2ry12	A	T	3: 59,125,516 (GRCm39)	M53K	possibly damaging	Het
Pask	A	G	1: 93,265,065 (GRCm39)		probably null	Het
Pcca	G	A	14: 123,124,481 (GRCm39)	C684Y	probably damaging	Het
Pcdhb10	A	G	18: 37,546,219 (GRCm39)	T432A	possibly damaging	Het
Peak1	T	C	9: 56,166,039 (GRCm39)	N630D	probably damaging	Het
Plbd2	A	T	5: 120,631,231 (GRCm39)		probably null	Het
Plekhg5	T	C	4: 152,188,797 (GRCm39)	V200A	probably benign	Het
Pola2	A	G	19: 6,011,198 (GRCm39)	V42A	probably benign	Het
Ppfibp2	T	A	7: 107,337,097 (GRCm39)	W572R	probably damaging	Het
Ppp6r1	C	T	7: 4,636,771 (GRCm39)	E679K	probably benign	Het
Pramel11	A	T	4: 143,622,337 (GRCm39)	H339Q	probably damaging	Het
Prdx3	G	A	19: 60,859,963 (GRCm39)	A70V	probably damaging	Het
Prkd2	T	C	7: 16,577,717 (GRCm39)	F57L	probably benign	Het
Prodh2	A	G	7: 30,206,171 (GRCm39)	T324A	possibly damaging	Het
Ptdss1	T	C	13: 67,120,604 (GRCm39)	F267L	probably damaging	Het
Rai14	T	A	15: 10,593,137 (GRCm39)	H169L	probably benign	Het
Rere	A	G	4: 150,701,700 (GRCm39)	H1360R	probably damaging	Het
Rfc3	C	T	5: 151,573,444 (GRCm39)	V40I	probably benign	Het
Rims1	T	A	1: 22,577,590 (GRCm39)	T219S	probably damaging	Het
Rnf169	T	C	7: 99,576,338 (GRCm39)	R289G	possibly damaging	Het
Senp7	T	C	16: 56,004,512 (GRCm39)		silent	Het
Sfmbt2	A	T	2: 10,573,184 (GRCm39)	I571F	probably damaging	Het
Slc11a2	C	A	15: 100,301,068 (GRCm39)	K328N	probably benign	Het
Slc25a10	A	G	11: 120,387,202 (GRCm39)		probably benign	Het
Slc38a8	T	C	8: 120,207,488 (GRCm39)	*433W	probably null	Het
Slco1a5	A	C	6: 142,183,320 (GRCm39)		probably null	Het
Syndig1	A	T	2: 149,741,428 (GRCm39)	I5F	possibly damaging	Het
Syt5	T	C	7: 4,546,018 (GRCm39)	Q124R	probably benign	Het
Taok3	A	C	5: 117,344,785 (GRCm39)	M171L	probably benign	Het
Tbrg1	T	C	9: 37,560,709 (GRCm39)	D389G	probably benign	Het
Tcaf2	G	A	6: 42,619,707 (GRCm39)	R107C	possibly damaging	Het
Tex14	C	A	11: 87,426,452 (GRCm39)	H1159Q	probably damaging	Het
Tmprss11d	T	A	5: 86,474,388 (GRCm39)	M190L	probably benign	Het
Ttn	T	A	2: 76,768,867 (GRCm39)	T2856S	probably damaging	Het
Ubr4	T	A	4: 139,171,998 (GRCm39)	M2997K	probably damaging	Het
Unc5c	C	T	3: 141,383,886 (GRCm39)	A88V	probably damaging	Het
Use1	T	C	8: 71,820,398 (GRCm39)		probably benign	Het
Vmn1r43	T	C	6: 89,847,354 (GRCm39)	N44S	probably damaging	Het
Vmn1r89	T	A	7: 12,954,146 (GRCm39)	V294D	possibly damaging	Het
Vmn2r11	A	T	5: 109,194,869 (GRCm39)	V819E	probably damaging	Het
Vmn2r120	T	A	17: 57,831,977 (GRCm39)	M271L	probably benign	Het
Vmn2r52	T	C	7: 9,905,059 (GRCm39)	Y260C	probably damaging	Het
Vmn2r67	T	A	7: 84,799,151 (GRCm39)	R519*	probably null	Het
Vmn2r69	T	A	7: 85,056,404 (GRCm39)	D578V	probably damaging	Het
Vmn2r85	T	C	10: 130,262,343 (GRCm39)	Y132C	probably damaging	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp318	T	A	17: 46,720,170 (GRCm39)		probably benign	Het
Zfp810	A	T	9: 22,194,467 (GRCm39)	S74T	probably benign	Het

Other mutations in Smc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Smc6	APN	12	11,349,264 (GRCm39)	missense	possibly damaging	0.48
IGL00562:Smc6	APN	12	11,351,532 (GRCm39)	missense	probably benign	0.02
IGL00563:Smc6	APN	12	11,351,532 (GRCm39)	missense	probably benign	0.02
IGL01420:Smc6	APN	12	11,341,659 (GRCm39)	missense	probably benign	0.27
IGL02299:Smc6	APN	12	11,340,752 (GRCm39)	missense	probably benign	0.00
R0207:Smc6	UTSW	12	11,333,179 (GRCm39)	unclassified	probably benign
R0365:Smc6	UTSW	12	11,333,175 (GRCm39)	critical splice donor site	probably null
R0669:Smc6	UTSW	12	11,339,165 (GRCm39)	missense	probably benign	0.41
R0732:Smc6	UTSW	12	11,340,818 (GRCm39)	missense	probably damaging	0.96
R1398:Smc6	UTSW	12	11,321,880 (GRCm39)	splice site	probably benign
R1509:Smc6	UTSW	12	11,329,734 (GRCm39)	missense	possibly damaging	0.55
R1739:Smc6	UTSW	12	11,367,854 (GRCm39)	missense	probably benign	0.05
R1775:Smc6	UTSW	12	11,359,270 (GRCm39)	missense	probably benign	0.00
R1815:Smc6	UTSW	12	11,344,602 (GRCm39)	critical splice donor site	probably null
R1937:Smc6	UTSW	12	11,349,399 (GRCm39)	missense	probably benign	0.06
R2090:Smc6	UTSW	12	11,339,987 (GRCm39)	missense	probably benign	0.08
R2885:Smc6	UTSW	12	11,326,294 (GRCm39)	missense	probably damaging	0.99
R2886:Smc6	UTSW	12	11,326,294 (GRCm39)	missense	probably damaging	0.99
R2991:Smc6	UTSW	12	11,339,982 (GRCm39)	missense	probably damaging	0.96
R3825:Smc6	UTSW	12	11,351,517 (GRCm39)	splice site	probably benign
R3967:Smc6	UTSW	12	11,348,327 (GRCm39)	missense	probably benign	0.13
R3975:Smc6	UTSW	12	11,324,075 (GRCm39)	missense	probably damaging	0.99
R4660:Smc6	UTSW	12	11,324,008 (GRCm39)	missense	probably damaging	1.00
R5372:Smc6	UTSW	12	11,332,431 (GRCm39)	missense	probably damaging	1.00
R5412:Smc6	UTSW	12	11,335,400 (GRCm39)	missense	possibly damaging	0.88
R5523:Smc6	UTSW	12	11,341,540 (GRCm39)	missense	probably benign	0.31
R5644:Smc6	UTSW	12	11,339,995 (GRCm39)	missense	probably benign	0.18
R5782:Smc6	UTSW	12	11,340,835 (GRCm39)	missense	probably damaging	1.00
R6027:Smc6	UTSW	12	11,356,179 (GRCm39)	missense	probably benign	0.04
R6083:Smc6	UTSW	12	11,326,354 (GRCm39)	missense	possibly damaging	0.95
R6344:Smc6	UTSW	12	11,347,107 (GRCm39)	intron	probably benign
R6374:Smc6	UTSW	12	11,355,874 (GRCm39)	splice site	probably null
R6430:Smc6	UTSW	12	11,359,235 (GRCm39)	missense	probably benign	0.00
R6539:Smc6	UTSW	12	11,347,011 (GRCm39)	splice site	probably null
R6767:Smc6	UTSW	12	11,321,821 (GRCm39)	missense	possibly damaging	0.93
R7042:Smc6	UTSW	12	11,359,301 (GRCm39)	missense	probably damaging	1.00
R7128:Smc6	UTSW	12	11,351,632 (GRCm39)	missense	probably damaging	1.00
R7477:Smc6	UTSW	12	11,321,808 (GRCm39)	missense	probably benign
R7698:Smc6	UTSW	12	11,333,141 (GRCm39)	missense	possibly damaging	0.92
R7832:Smc6	UTSW	12	11,367,844 (GRCm39)	missense	probably benign	0.28
R7863:Smc6	UTSW	12	11,339,130 (GRCm39)	missense	probably benign	0.00
R8192:Smc6	UTSW	12	11,349,336 (GRCm39)	missense	probably benign	0.01
R8229:Smc6	UTSW	12	11,341,673 (GRCm39)	missense	probably benign	0.25
R8289:Smc6	UTSW	12	11,324,052 (GRCm39)	missense	probably benign	0.41
R9233:Smc6	UTSW	12	11,359,291 (GRCm39)	missense	probably benign	0.15
R9596:Smc6	UTSW	12	11,345,045 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACACTGTGGAATGCTGCATC -3'
(R):5'- CCCACAGATTGCTAAAATGTACAAG -3'

Sequencing Primer
(F):5'- GGTTTTAATGAAAGTTGCTTACAGC -3'
(R):5'- CAGGCTAGTCCGGATTACACAATG -3'

Posted On

2016-11-08