Mutagenetix > Incidental Mutation

Incidental Mutation 'R1775:Smc6'

204354

Institutional Source

Beutler Lab

Gene Symbol

Smc6

Ensembl Gene

ENSMUSG00000020608

Gene Name

structural maintenance of chromosomes 6

Synonyms

2810489L22Rik, 3830418C19Rik, Smc6l1

MMRRC Submission

039806-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11265886-11319785 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11309269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 965 (N965D)

Ref Sequence

ENSEMBL: ENSMUSP00000020931 (fasta)

Gene Model

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

AlphaFold

Q924W5

Predicted Effect

probably benign
Transcript: ENSMUST00000020931
AA Change: N965D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: N965D

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: ENSMUST00000218022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218319

Meta Mutation Damage Score

0.0585

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	A	G	12: 11,222,142 (GRCm38)	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,279,318 (GRCm38)		noncoding transcript	Het
4930562C15Rik	G	A	16: 4,851,558 (GRCm38)		probably null	Het
4933427I04Rik	A	G	4: 123,860,493 (GRCm38)	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,798,419 (GRCm38)	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,300,422 (GRCm38)	D155G	possibly damaging	Het
Afg3l1	G	A	8: 123,492,900 (GRCm38)	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,934,547 (GRCm38)	T799M	probably benign	Het
Anxa2	T	C	9: 69,488,081 (GRCm38)	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,373,743 (GRCm38)	T771A	probably benign	Het
Atp12a	T	C	14: 56,372,589 (GRCm38)	V182A	probably benign	Het
Birc6	T	C	17: 74,612,286 (GRCm38)	L210S	probably damaging	Het
Car3	A	G	3: 14,864,432 (GRCm38)	T73A	probably benign	Het
Cd5l	T	C	3: 87,368,659 (GRCm38)	L312P	probably damaging	Het
Celf5	A	G	10: 81,467,304 (GRCm38)		probably benign	Het
Cep290	T	A	10: 100,496,810 (GRCm38)	V257E	probably damaging	Het
Cntrob	T	C	11: 69,320,867 (GRCm38)	D177G	possibly damaging	Het
Copg2	A	T	6: 30,810,336 (GRCm38)	F658I	probably damaging	Het
Csmd3	T	C	15: 47,899,739 (GRCm38)	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,806,437 (GRCm38)	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,874,367 (GRCm38)	H209L	possibly damaging	Het
Eml5	G	T	12: 98,852,704 (GRCm38)		probably null	Het
Evpl	T	C	11: 116,223,660 (GRCm38)	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,576,660 (GRCm38)	M41T	probably damaging	Het
Fmo3	A	G	1: 162,968,725 (GRCm38)	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,560,018 (GRCm38)	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,718,558 (GRCm38)	I56K	probably benign	Het
Gria2	G	T	3: 80,691,338 (GRCm38)	S796R	probably benign	Het
Hectd4	T	A	5: 121,291,191 (GRCm38)		probably benign	Het
Hgfac	T	C	5: 35,042,850 (GRCm38)		probably benign	Het
Hspg2	C	T	4: 137,520,156 (GRCm38)	R1200W	probably damaging	Het
Ift52	G	A	2: 163,025,355 (GRCm38)	D78N	possibly damaging	Het
Iqca	C	A	1: 90,081,416 (GRCm38)	W415L	probably damaging	Het
Ism1	A	T	2: 139,746,043 (GRCm38)	K236N	probably damaging	Het
Itgb6	C	T	2: 60,672,644 (GRCm38)	W43*	probably null	Het
Kcnk18	T	A	19: 59,235,341 (GRCm38)	I306N	probably damaging	Het
Kctd8	T	C	5: 69,340,560 (GRCm38)	K248E	probably damaging	Het
Layn	T	A	9: 51,059,533 (GRCm38)	I237F	probably benign	Het
Lce3f	C	T	3: 92,992,941 (GRCm38)	P23L	unknown	Het
Lct	A	G	1: 128,300,301 (GRCm38)	F1152L	probably damaging	Het
Mxra8	T	C	4: 155,843,074 (GRCm38)	I413T	probably damaging	Het
Nedd9	A	G	13: 41,317,962 (GRCm38)	V187A	probably benign	Het
Net1	A	G	13: 3,887,642 (GRCm38)	L207P	probably damaging	Het
Neurod1	G	T	2: 79,454,437 (GRCm38)	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,161,821 (GRCm38)	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,356,041 (GRCm38)	H524L	possibly damaging	Het
Nup98	A	C	7: 102,134,937 (GRCm38)	S1063A	probably benign	Het
Olfr1036	G	A	2: 86,074,760 (GRCm38)	V7I	possibly damaging	Het
Olfr1333	T	A	4: 118,829,868 (GRCm38)	M191L	probably benign	Het
Olfr1447	C	A	19: 12,901,235 (GRCm38)	V182F	probably benign	Het
Olfr215	T	C	6: 116,582,964 (GRCm38)		probably benign	Het
Olfr657	G	A	7: 104,636,159 (GRCm38)	V162I	probably benign	Het
Olfr747	G	T	14: 50,681,166 (GRCm38)	P156Q	possibly damaging	Het
Pdzd2	G	A	15: 12,592,460 (GRCm38)	R33W	probably damaging	Het
Phf21a	G	A	2: 92,330,515 (GRCm38)	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,893,348 (GRCm38)		probably null	Het
Rexo5	T	C	7: 119,845,411 (GRCm38)	V703A	probably benign	Het
Rgs4	A	G	1: 169,745,278 (GRCm38)	S30P	probably benign	Het
Rrnad1	A	G	3: 87,923,817 (GRCm38)	S404P	probably damaging	Het
Rxra	C	A	2: 27,756,244 (GRCm38)	D340E	probably damaging	Het
Samhd1	A	G	2: 157,107,547 (GRCm38)	V473A	probably benign	Het
Scn3a	T	A	2: 65,472,342 (GRCm38)	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,680,955 (GRCm38)	N1207S	probably benign	Het
Sec24d	T	A	3: 123,336,517 (GRCm38)	I443N	probably damaging	Het
Sema4g	T	A	19: 44,999,242 (GRCm38)		probably null	Het
Sema5b	A	G	16: 35,660,324 (GRCm38)	K787R	probably benign	Het
Serpinc1	A	G	1: 160,989,647 (GRCm38)	N104D	probably benign	Het
Sfn	T	C	4: 133,601,231 (GRCm38)	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,619,107 (GRCm38)		probably null	Het
Slc9a8	T	C	2: 167,457,358 (GRCm38)	S217P	probably benign	Het
Sod2	T	A	17: 13,015,032 (GRCm38)	I177N	probably damaging	Het
Sp4	A	T	12: 118,299,600 (GRCm38)	I237K	probably damaging	Het
Sulf2	T	C	2: 166,079,612 (GRCm38)	K697R	probably benign	Het
Svs4	A	T	2: 164,277,085 (GRCm38)	D110E	unknown	Het
Tas1r1	T	A	4: 152,038,218 (GRCm38)	R57*	probably null	Het
Tlr5	T	C	1: 182,973,722 (GRCm38)	I197T	probably damaging	Het
Tmc3	T	C	7: 83,612,532 (GRCm38)	V606A	probably benign	Het
Tmem241	T	A	18: 12,118,412 (GRCm38)	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,486,253 (GRCm38)	N90K	probably damaging	Het
Tram1	A	C	1: 13,576,456 (GRCm38)		probably benign	Het
Trim15	T	A	17: 36,865,169 (GRCm38)	H162L	probably benign	Het
Ttc28	T	A	5: 111,276,811 (GRCm38)	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,862,214 (GRCm38)	V857A	probably benign	Het
Tulp4	A	G	17: 6,139,046 (GRCm38)	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089 (GRCm38)	E939G	probably damaging	Het
Utp20	A	G	10: 88,770,808 (GRCm38)	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,738,170 (GRCm38)	M729V	probably benign	Het
Vps13c	C	T	9: 67,881,447 (GRCm38)	T334M	probably damaging	Het
Wnk4	C	G	11: 101,276,340 (GRCm38)		probably benign	Het
Xpo1	A	G	11: 23,271,193 (GRCm38)	N97D	probably benign	Het
Xpo4	A	T	14: 57,603,672 (GRCm38)	F518Y	probably benign	Het
Zfp668	C	T	7: 127,866,606 (GRCm38)	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,749,704 (GRCm38)	C83F	probably damaging	Het

Other mutations in Smc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Smc6	APN	12	11,299,263 (GRCm38)	missense	possibly damaging	0.48
IGL00562:Smc6	APN	12	11,301,531 (GRCm38)	missense	probably benign	0.02
IGL00563:Smc6	APN	12	11,301,531 (GRCm38)	missense	probably benign	0.02
IGL01420:Smc6	APN	12	11,291,658 (GRCm38)	missense	probably benign	0.27
IGL02299:Smc6	APN	12	11,290,751 (GRCm38)	missense	probably benign	0.00
R0207:Smc6	UTSW	12	11,283,178 (GRCm38)	unclassified	probably benign
R0365:Smc6	UTSW	12	11,283,174 (GRCm38)	critical splice donor site	probably null
R0669:Smc6	UTSW	12	11,289,164 (GRCm38)	missense	probably benign	0.41
R0732:Smc6	UTSW	12	11,290,817 (GRCm38)	missense	probably damaging	0.96
R1398:Smc6	UTSW	12	11,271,879 (GRCm38)	splice site	probably benign
R1509:Smc6	UTSW	12	11,279,733 (GRCm38)	missense	possibly damaging	0.55
R1739:Smc6	UTSW	12	11,317,853 (GRCm38)	missense	probably benign	0.05
R1815:Smc6	UTSW	12	11,294,601 (GRCm38)	critical splice donor site	probably null
R1937:Smc6	UTSW	12	11,299,398 (GRCm38)	missense	probably benign	0.06
R2090:Smc6	UTSW	12	11,289,986 (GRCm38)	missense	probably benign	0.08
R2885:Smc6	UTSW	12	11,276,293 (GRCm38)	missense	probably damaging	0.99
R2886:Smc6	UTSW	12	11,276,293 (GRCm38)	missense	probably damaging	0.99
R2991:Smc6	UTSW	12	11,289,981 (GRCm38)	missense	probably damaging	0.96
R3825:Smc6	UTSW	12	11,301,516 (GRCm38)	splice site	probably benign
R3967:Smc6	UTSW	12	11,298,326 (GRCm38)	missense	probably benign	0.13
R3975:Smc6	UTSW	12	11,274,074 (GRCm38)	missense	probably damaging	0.99
R4660:Smc6	UTSW	12	11,274,007 (GRCm38)	missense	probably damaging	1.00
R5372:Smc6	UTSW	12	11,282,430 (GRCm38)	missense	probably damaging	1.00
R5412:Smc6	UTSW	12	11,285,399 (GRCm38)	missense	possibly damaging	0.88
R5523:Smc6	UTSW	12	11,291,539 (GRCm38)	missense	probably benign	0.31
R5643:Smc6	UTSW	12	11,289,994 (GRCm38)	missense	probably benign	0.18
R5644:Smc6	UTSW	12	11,289,994 (GRCm38)	missense	probably benign	0.18
R5782:Smc6	UTSW	12	11,290,834 (GRCm38)	missense	probably damaging	1.00
R6027:Smc6	UTSW	12	11,306,178 (GRCm38)	missense	probably benign	0.04
R6083:Smc6	UTSW	12	11,276,353 (GRCm38)	missense	possibly damaging	0.95
R6344:Smc6	UTSW	12	11,297,106 (GRCm38)	intron	probably benign
R6374:Smc6	UTSW	12	11,305,873 (GRCm38)	splice site	probably null
R6430:Smc6	UTSW	12	11,309,234 (GRCm38)	missense	probably benign	0.00
R6539:Smc6	UTSW	12	11,297,010 (GRCm38)	splice site	probably null
R6767:Smc6	UTSW	12	11,271,820 (GRCm38)	missense	possibly damaging	0.93
R7042:Smc6	UTSW	12	11,309,300 (GRCm38)	missense	probably damaging	1.00
R7128:Smc6	UTSW	12	11,301,631 (GRCm38)	missense	probably damaging	1.00
R7477:Smc6	UTSW	12	11,271,807 (GRCm38)	missense	probably benign
R7698:Smc6	UTSW	12	11,283,140 (GRCm38)	missense	possibly damaging	0.92
R7832:Smc6	UTSW	12	11,317,843 (GRCm38)	missense	probably benign	0.28
R7863:Smc6	UTSW	12	11,289,129 (GRCm38)	missense	probably benign	0.00
R8192:Smc6	UTSW	12	11,299,335 (GRCm38)	missense	probably benign	0.01
R8229:Smc6	UTSW	12	11,291,672 (GRCm38)	missense	probably benign	0.25
R8289:Smc6	UTSW	12	11,274,051 (GRCm38)	missense	probably benign	0.41
R9233:Smc6	UTSW	12	11,309,290 (GRCm38)	missense	probably benign	0.15
R9596:Smc6	UTSW	12	11,295,044 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TATGAACTTGGGGAAACTGGC -3'
(R):5'- GGAAGAAACTCTAGGCTACTACC -3'

Sequencing Primer
(F):5'- GAGATGCATATGTACTTTCATGTCTC -3'
(R):5'- TCTAGGCTACTACCTTTATAAACAGC -3'

Posted On

2014-06-23