Mutagenetix > Incidental Mutation

Incidental Mutation 'R8472:Smc3'

657107

Institutional Source

Beutler Lab

Gene Symbol

Smc3

Ensembl Gene

ENSMUSG00000024974

Gene Name

structural maintenance of chromosomes 3

Synonyms

SmcD, Mmip1, Bamacan, Cspg6

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53600398-53645833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53628711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 518 (H518Q)

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: H518Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: H518Q

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,512,641	H21Q	possibly damaging	Het
Ccdc7a	A	G	8: 129,027,657	S152P	probably damaging	Het
Ccnj	T	C	19: 40,845,164	S222P	probably damaging	Het
Cdcp2	C	T	4: 107,102,784	A132V	probably damaging	Het
Cnksr3	G	T	10: 7,134,532	P71Q	probably damaging	Het
Col9a3	C	T	2: 180,605,264	P185L	probably damaging	Het
Cpm	T	C	10: 117,679,978	V319A	probably damaging	Het
Ctxn2	A	G	2: 125,147,608	I52V	possibly damaging	Het
Cyp2c66	A	T	19: 39,176,577	H334L	probably benign	Het
Dab1	A	G	4: 104,479,242	K12E	possibly damaging	Het
Emsy	T	C	7: 98,654,830		probably benign	Het
Etv4	G	T	11: 101,784,001	D56E	probably damaging	Het
Exoc3l2	C	T	7: 19,481,265	R484*	probably null	Het
Extl1	A	G	4: 134,371,292	C143R	probably benign	Het
Fat3	T	C	9: 16,375,267	I987V	possibly damaging	Het
Fbn1	A	C	2: 125,309,802	C2511G	probably damaging	Het
Fer	T	A	17: 63,973,149	S72T	probably benign	Het
Gdf2	A	G	14: 33,944,840	D173G	probably damaging	Het
Gm11639	A	T	11: 104,818,637	D1815V	probably benign	Het
Gm6614	T	G	6: 142,003,389	H87P	probably damaging	Het
Grhl3	T	C	4: 135,556,865	E222G	probably benign	Het
Gria1	A	T	11: 57,327,584	M819L	probably benign	Het
Gsap	A	T	5: 21,222,434	R187*	probably null	Het
Heatr6	A	G	11: 83,765,853	N314D	probably benign	Het
Hspd1	T	C	1: 55,078,346	D555G	probably benign	Het
Ighv3-4	T	C	12: 114,254,029	Y8C	probably benign	Het
Lcmt2	A	G	2: 121,140,248	V118A	probably damaging	Het
Lmf2	T	C	15: 89,354,802	E37G	possibly damaging	Het
Macf1	A	G	4: 123,453,002	L1161P	probably damaging	Het
Mbip	T	A	12: 56,330,269		probably null	Het
Mgam	A	T	6: 40,694,526		probably null	Het
Mmrn1	G	A	6: 60,988,396	S1136N	probably damaging	Het
Mms22l	T	C	4: 24,502,943	V73A	possibly damaging	Het
Mtbp	C	T	15: 55,586,352	L24F	probably damaging	Het
Ncr1	T	A	7: 4,338,121	I37N	probably benign	Het
Nkx3-1	A	G	14: 69,192,058	N175S	probably damaging	Het
Nlrp4f	A	G	13: 65,194,331	I500T	possibly damaging	Het
Olfr397	C	T	11: 73,965,397	S263L	possibly damaging	Het
Olfr518	T	A	7: 108,880,766	Q280L	possibly damaging	Het
Olfr820	A	G	10: 130,017,576	T72A	probably damaging	Het
Pcdha2	A	G	18: 36,941,272	D652G	probably damaging	Het
Pde6a	T	A	18: 61,220,946	N114K	probably damaging	Het
Pdp2	A	G	8: 104,594,281	E254G	probably benign	Het
Pip5kl1	T	C	2: 32,580,006	V241A	probably benign	Het
Prkdc	T	A	16: 15,651,536	D168E	probably damaging	Het
Psg27	A	T	7: 18,562,090	H143Q	probably benign	Het
Serpina16	T	A	12: 103,672,537	I264F	probably benign	Het
Slc25a41	G	A	17: 57,041,582	H4Y	probably benign	Het
Snrpb	G	T	2: 130,173,122	T158K	probably damaging	Het
Sobp	A	G	10: 43,022,396	F398L	probably damaging	Het
Spidr	T	A	16: 16,140,727	Q57L	probably benign	Het
Srd5a3	T	G	5: 76,149,801	V26G	possibly damaging	Het
Stx17	A	G	4: 48,166,972	T131A	probably benign	Het
Susd1	A	G	4: 59,332,985	L553P	possibly damaging	Het
Tbc1d30	C	A	10: 121,351,104	G59C	probably benign	Het
Tekt1	T	C	11: 72,352,024	D219G	possibly damaging	Het
Trav9d-1	A	T	14: 52,792,706	D89V	possibly damaging	Het
Trim34b	T	C	7: 104,331,338	I211T	probably benign	Het
Vmn1r25	A	T	6: 57,978,546	L253M	possibly damaging	Het
Vmn1r56	C	T	7: 5,195,905	V238M	probably damaging	Het
Wipf3	A	G	6: 54,489,085	I443V	probably benign	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
R1661:Smc3	UTSW	19	53625065	missense	probably benign	0.08
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
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'- GAACCCACAGTTATGCAAAATGTAG -3'
(R):5'- GAGGGTAATGGAAGACATATTGTTC -3'

Sequencing Primer
(F):5'- CCACAGTTATGCAAAATGTAGTTACC -3'
(R):5'- CAAAACCCATTTAAATGTCAGGC -3'

Posted On

2021-01-18