Mutagenetix > Incidental Mutation

Incidental Mutation 'R1661:Smc3'

186801

Institutional Source

Beutler Lab

Gene Symbol

Smc3

Ensembl Gene

ENSMUSG00000024974

Gene Name

structural maintenance of chromosomes 3

Synonyms

SmcD, Mmip1, Bamacan, Cspg6

MMRRC Submission

039697-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1661 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53600398-53645833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53625065 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 403 (D403G)

Ref Sequence

ENSEMBL: ENSMUSP00000025930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025930]

AlphaFold

Q9CW03

PDB Structure

SMC hinge heterodimer (Mouse) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000025930
AA Change: D403G

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: D403G

Domain	Start	End	E-Value	Type
Pfam:AAA_23	5	359	5.4e-10	PFAM
SMC_hinge	530	643	1.85e-23	SMART
low complexity region	684	711	N/A	INTRINSIC
Blast:SMC_hinge	712	804	3e-49	BLAST
low complexity region	805	818	N/A	INTRINSIC
Blast:SMC_hinge	819	870	3e-23	BLAST
Blast:INB	898	1174	2e-52	BLAST
PDB:1XEW\|Y	1032	1212	6e-30	PDB
SCOP:d1e69a_	1114	1193	2e-9	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,377,842	G423E	probably damaging	Het
Acox3	A	T	5: 35,603,027	H429L	probably damaging	Het
Adamts9	G	T	6: 92,880,623	Q895K	possibly damaging	Het
Amotl2	T	A	9: 102,730,096	I701N	probably damaging	Het
Angel2	T	C	1: 190,937,467	Y115H	probably damaging	Het
Appbp2	T	C	11: 85,210,110		probably null	Het
Arhgap33	A	C	7: 30,532,323	C113W	probably damaging	Het
Asprv1	A	G	6: 86,628,736	N188S	probably damaging	Het
Atp8a2	T	C	14: 59,860,186	I798V	possibly damaging	Het
Caml	C	A	13: 55,631,971	L286I	probably benign	Het
Ccdc125	A	G	13: 100,693,573	I284V	probably benign	Het
Cep89	A	G	7: 35,417,680	T236A	possibly damaging	Het
Cfap61	T	C	2: 146,035,319		probably null	Het
Cog2	T	C	8: 124,542,890	F390L	probably benign	Het
Creg2	C	T	1: 39,623,204	W253*	probably null	Het
Cttnbp2	A	T	6: 18,434,983	I292K	probably benign	Het
Ddb1	A	T	19: 10,629,080	Y1114F	probably benign	Het
Dnah6	T	C	6: 73,124,778	E1921G	probably benign	Het
Dync1h1	T	C	12: 110,656,357	F3494L	probably damaging	Het
F7	A	G	8: 13,035,209	I412V	probably benign	Het
Fam208b	C	T	13: 3,573,860	S2030N	possibly damaging	Het
Fam222b	A	G	11: 78,155,161	Y388C	probably damaging	Het
Fam227a	G	A	15: 79,620,677		probably null	Het
Fam71f2	G	C	6: 29,285,938	R132P	probably damaging	Het
Fbxo32	A	C	15: 58,191,469	V156G	probably damaging	Het
Fem1b	C	T	9: 62,797,274	V235I	probably damaging	Het
Fnip2	A	G	3: 79,515,149	F108S	probably benign	Het
Fras1	A	T	5: 96,598,909	S613C	probably damaging	Het
Gm7276	C	A	18: 77,185,570		probably benign	Het
Gm996	T	C	2: 25,579,155	D248G	possibly damaging	Het
Gnb4	A	C	3: 32,590,039	L152*	probably null	Het
Hsd17b4	G	A	18: 50,160,215	E274K	probably benign	Het
Htr4	T	C	18: 62,412,234	I30T	probably damaging	Het
Ighmbp2	A	G	19: 3,267,246	L542P	probably damaging	Het
Ikzf2	T	A	1: 69,538,814	Y512F	probably damaging	Het
Itpr1	A	G	6: 108,482,897	N2051D	probably benign	Het
Kif1c	C	T	11: 70,728,397	L953F	probably damaging	Het
Klhl22	C	A	16: 17,776,488	D160E	probably benign	Het
Kpna6	T	A	4: 129,657,471	R80S	probably benign	Het
Lclat1	A	G	17: 73,188,004	E142G	probably damaging	Het
Lrig3	T	C	10: 125,997,701	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map1b	T	A	13: 99,431,929	N1428I	unknown	Het
Map3k19	T	A	1: 127,817,656	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,749,748	W1696R	probably damaging	Het
Megf8	A	G	7: 25,363,847	T2543A	probably damaging	Het
Mfn1	T	G	3: 32,534,322	V66G	probably benign	Het
Muc15	C	T	2: 110,733,898	Q260*	probably null	Het
Nfkb1	T	C	3: 135,594,957	H616R	probably damaging	Het
Nnmt	A	G	9: 48,604,874	S29P	probably benign	Het
Nrde2	A	T	12: 100,149,860	S122T	probably benign	Het
Olfr1279	T	C	2: 111,306,771	C189R	probably damaging	Het
Olfr714	T	C	7: 107,074,274	S149P	probably damaging	Het
Olfr853	C	T	9: 19,537,328	V201I	probably benign	Het
Pced1b	A	G	15: 97,384,713	H211R	probably benign	Het
Pcsk5	A	T	19: 17,447,574	S1622T	probably damaging	Het
Pde10a	A	G	17: 8,898,870	D26G	probably damaging	Het
Phf11a	A	T	14: 59,280,788	L170H	probably damaging	Het
Ppil6	A	G	10: 41,514,180	D307G	probably benign	Het
Ppp6r2	A	G	15: 89,253,051	D6G	possibly damaging	Het
Psmd12	A	T	11: 107,491,906	K212N	probably damaging	Het
Rc3h1	T	A	1: 160,959,423	V796E	probably benign	Het
Rgl1	T	C	1: 152,533,575	Y503C	probably damaging	Het
Ryr1	A	T	7: 29,101,738	I860N	probably damaging	Het
Saal1	A	T	7: 46,692,800	N406K	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,278,320	Y277N	probably damaging	Het
Slitrk1	A	T	14: 108,911,927	Y451N	probably damaging	Het
Smad1	T	C	8: 79,372,029	E52G	probably damaging	Het
Smarcd1	A	T	15: 99,707,638		probably null	Het
Srd5a2	A	T	17: 74,021,481	W201R	probably damaging	Het
Syt2	C	A	1: 134,747,620	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,736,912	S225R	probably benign	Het
Thap3	C	T	4: 151,985,704	V78M	probably damaging	Het
Thoc5	A	G	11: 4,919,792	K446R	probably benign	Het
Timmdc1	A	C	16: 38,510,717		probably null	Het
Tmem126b	G	T	7: 90,475,971	A2E	probably damaging	Het
Trim9	T	A	12: 70,255,113	R584W	probably damaging	Het
Vmn1r25	A	T	6: 57,978,461	I281N	probably damaging	Het
Wdr59	A	G	8: 111,479,362	F553S	probably damaging	Het
Wnt5a	T	C	14: 28,518,343	M150T	probably benign	Het
Zfp53	A	G	17: 21,509,504	T600A	probably damaging	Het

Other mutations in Smc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Smc3	APN	19	53629327	missense	probably damaging	0.99
IGL01300:Smc3	APN	19	53641852	splice site	probably benign
IGL02136:Smc3	APN	19	53635716	missense	probably benign	0.02
IGL02216:Smc3	APN	19	53621844	missense	probably damaging	1.00
IGL02473:Smc3	APN	19	53636448	missense	probably benign	0.06
IGL02797:Smc3	APN	19	53638758	missense	probably benign	0.03
IGL02959:Smc3	APN	19	53623557	missense	probably benign	0.00
IGL03343:Smc3	APN	19	53613842	missense	probably damaging	1.00
Bits	UTSW	19	53623218	critical splice donor site	probably null
Pieces	UTSW	19	53629371	missense	probably damaging	0.99
Smithereens	UTSW	19	53641931	missense	probably damaging	1.00
R0081:Smc3	UTSW	19	53601562	splice site	probably benign
R0940:Smc3	UTSW	19	53640909	missense	probably benign	0.10
R1248:Smc3	UTSW	19	53634078	missense	probably benign	0.01
R1779:Smc3	UTSW	19	53639369	missense	probably benign	0.02
R2046:Smc3	UTSW	19	53639414	missense	probably benign	0.00
R2073:Smc3	UTSW	19	53631533	missense	probably benign	0.08
R2074:Smc3	UTSW	19	53631533	missense	probably benign	0.08
R3077:Smc3	UTSW	19	53627891	missense	probably benign	0.16
R4962:Smc3	UTSW	19	53631517	missense	probably damaging	0.99
R5684:Smc3	UTSW	19	53640804	missense	probably benign	0.00
R6020:Smc3	UTSW	19	53625163	critical splice donor site	probably null
R6169:Smc3	UTSW	19	53634086	missense	probably benign	0.02
R6221:Smc3	UTSW	19	53641931	missense	probably damaging	1.00
R6258:Smc3	UTSW	19	53627731	splice site	probably null
R6960:Smc3	UTSW	19	53629371	missense	probably damaging	0.99
R7048:Smc3	UTSW	19	53629251	missense	probably benign	0.01
R7148:Smc3	UTSW	19	53641895	missense	possibly damaging	0.93
R7157:Smc3	UTSW	19	53641898	missense	probably damaging	1.00
R7805:Smc3	UTSW	19	53640959	missense	probably benign	0.26
R7968:Smc3	UTSW	19	53623218	critical splice donor site	probably null
R8066:Smc3	UTSW	19	53615145	missense	probably damaging	1.00
R8202:Smc3	UTSW	19	53628692	missense	possibly damaging	0.94
R8472:Smc3	UTSW	19	53628711	missense	probably benign	0.02
R8683:Smc3	UTSW	19	53641185	missense	possibly damaging	0.50
R8827:Smc3	UTSW	19	53622654	missense	probably benign	0.01
R9072:Smc3	UTSW	19	53628769	missense	probably benign	0.00
R9073:Smc3	UTSW	19	53628769	missense	probably benign	0.00
R9355:Smc3	UTSW	19	53634113	critical splice donor site	probably null
R9428:Smc3	UTSW	19	53628719	missense	possibly damaging	0.48
X0026:Smc3	UTSW	19	53625120	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CTCAATAACCTATAGTCCCCACGCAATG -3'
(R):5'- GCCTTTCTAACTGAGCGGCTTCTTT -3'

Sequencing Primer
(F):5'- GGCTCAAGCTACACAGGAAAGA -3'
(R):5'- acagtgaattacagaaacagcc -3'

Posted On

2014-05-09