Mutagenetix > Incidental Mutations

Incidental Mutation 'R6767:Smc6'

531998

Institutional Source

Beutler Lab

Gene Symbol

Smc6

Ensembl Gene

ENSMUSG00000020608

Gene Name

structural maintenance of chromosomes 6

Synonyms

2810489L22Rik, 3830418C19Rik, Smc6l1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6767 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11265886-11319785 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11271820 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 29 (D29E)

Ref Sequence

ENSEMBL: ENSMUSP00000151643 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020931
AA Change: D29E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: D29E

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

possibly damaging
Transcript: ENSMUST00000217906
AA Change: D29E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218022
AA Change: D29E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000218866
AA Change: D29E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219776
AA Change: D29E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak7	A	G	12: 105,766,607	N537D	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Atp8a2	A	G	14: 60,046,722	F47S	probably damaging	Het
Cadps	T	A	14: 12,550,888	T449S	probably damaging	Het
Ccdc33	C	G	9: 58,033,244	Q489H	possibly damaging	Het
Cd163	T	G	6: 124,304,779	S14A	possibly damaging	Het
Cemip	G	A	7: 83,998,624	L83F	probably damaging	Het
Chrd	C	T	16: 20,738,626	P665L	probably benign	Het
Cib4	T	A	5: 30,534,245	H44L	probably benign	Het
Clic1	T	A	17: 35,053,053	L99Q	probably benign	Het
Cnst	C	T	1: 179,609,954	T361I	possibly damaging	Het
Dnah6	C	A	6: 73,133,608	V1613L	probably benign	Het
Dnajb8	T	C	6: 88,222,652	S57P	probably damaging	Het
Dyrk3	T	C	1: 131,129,590	H282R	probably damaging	Het
Fasn	T	C	11: 120,817,487	I651V	possibly damaging	Het
Gas6	A	G	8: 13,465,784	S663P	probably damaging	Het
Gbp8	T	C	5: 105,018,612	M284V	probably benign	Het
Gm12695	T	C	4: 96,762,696		probably null	Het
Gm17359	A	T	3: 79,430,023	D46V	probably benign	Het
Gm5346	G	A	8: 43,626,914	T91I	probably damaging	Het
Gm6034	T	A	17: 36,043,131	M1K	probably null	Het
Gm9376	A	G	14: 118,267,236	T27A	unknown	Het
Grid2	A	G	6: 63,931,015	D213G	probably benign	Het
Gsdma3	A	T	11: 98,637,884	D388V	possibly damaging	Het
Hdac9	T	A	12: 34,287,529	H716L	probably damaging	Het
Hist1h4b	T	A	13: 23,757,022	M1K	probably null	Het
Hivep1	T	C	13: 42,154,727	S148P	probably damaging	Het
Kctd1	T	C	18: 15,062,175	T464A	possibly damaging	Het
Kera	A	G	10: 97,609,172	D131G	possibly damaging	Het
Kif2c	C	T	4: 117,178,188	R21Q	probably benign	Het
Luc7l3	G	T	11: 94,292,953	D453E	probably damaging	Het
Mrpl9	A	G	3: 94,450,221		probably benign	Het
Mtss1	T	C	15: 58,953,581	S257G	probably benign	Het
N4bp2	T	C	5: 65,817,187	F1467L	probably damaging	Het
Naa25	T	C	5: 121,439,865	V945A	probably damaging	Het
Nrg1	T	C	8: 31,917,895	I103M	probably damaging	Het
Olfr1369-ps1	C	T	13: 21,116,057	R122C	probably benign	Het
Orm3	C	T	4: 63,356,294	T32I	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Plch1	A	T	3: 63,755,344	M246K	probably damaging	Het
Pld4	A	C	12: 112,764,115	D144A	possibly damaging	Het
Prelp	C	A	1: 133,912,710	V345L	probably benign	Het
Rnf121	A	G	7: 102,023,412	F238L	probably damaging	Het
Rnf40	A	G	7: 127,596,585	K667R	possibly damaging	Het
Scgb1b12	A	T	7: 32,334,495	N60I	probably damaging	Het
Serpina3n	T	G	12: 104,409,062	V131G	probably benign	Het
Slc22a21	T	C	11: 53,979,502	Y119C	probably damaging	Het
Slc22a28	A	G	19: 8,117,045	F204S	probably damaging	Het
Smgc	T	A	15: 91,841,398	F40Y	possibly damaging	Het
Sorcs3	G	T	19: 48,713,571	L630F	probably damaging	Het
Sphk1	A	G	11: 116,536,156	K306E	possibly damaging	Het
Spsb1	C	T	4: 149,906,844	G89D	probably damaging	Het
Stat4	G	T	1: 52,076,583	M227I	probably benign	Het
Syngr4	A	G	7: 45,887,491	V116A	possibly damaging	Het
Tacc1	T	C	8: 25,240,800	M1V	probably null	Het
Tcf7l1	T	G	6: 72,631,292	K355Q	probably damaging	Het
Tmem192	T	C	8: 64,964,236	S36P	probably damaging	Het
Top3a	G	T	11: 60,750,753	N368K	possibly damaging	Het
Tpk1	T	A	6: 43,346,793	I241F	possibly damaging	Het
Trappc10	A	G	10: 78,193,511	I1064T	possibly damaging	Het
Vmn1r18	T	A	6: 57,390,221	K116M	probably damaging	Het
Vmn2r40	A	T	7: 8,920,140	H407Q	unknown	Het
Vmn2r91	T	A	17: 18,107,545	L467H	probably damaging	Het
Wdr59	G	T	8: 111,476,101	S603R	probably damaging	Het
Wwc2	A	G	8: 47,900,791	Y103H	possibly damaging	Het
Zfp324	A	C	7: 12,970,600	K74N	probably null	Het
Zfyve16	A	G	13: 92,508,199	L1165P	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
R6083:Smc6	UTSW	12	11276353	missense	possibly damaging	0.95
R6344:Smc6	UTSW	12	11297106	intron	probably benign
R6374:Smc6	UTSW	12	11305873	intron	probably null
R6430:Smc6	UTSW	12	11309234	missense	probably benign	0.00
R6539:Smc6	UTSW	12	11297010	unclassified	probably null
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
R7915:Smc6	UTSW	12	11317843	missense	probably benign	0.28
R7946:Smc6	UTSW	12	11289129	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCATCAATAGGGTTGTGTGTC -3'
(R):5'- ATCAGATGCTATCTTTCCCAGC -3'

Sequencing Primer
(F):5'- GCTCAAGGGGGAAATATGTTTC -3'
(R):5'- CCAGCTCTCTAAAACTCTTACTGC -3'

Posted On

2018-08-29