Mutagenetix > Incidental Mutation

Incidental Mutation 'R7148:Smc3'

553982

Institutional Source

Beutler Lab

Gene Symbol

Smc3

Ensembl Gene

ENSMUSG00000024974

Gene Name

structural maintenance of chromosomes 3

Synonyms

SmcD, Mmip1, Bamacan, Cspg6

MMRRC Submission

045225-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53600398-53645833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53641895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1111 (E1111V)

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

possibly damaging
Transcript: ENSMUST00000025930
AA Change: E1111V

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: E1111V

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,388,312	Y14F	probably damaging	Het
2410131K14Rik	A	G	5: 118,255,694	N46D	probably benign	Het
4930563D23Rik	T	C	16: 92,320,987	K138E	probably benign	Het
Acly	A	G	11: 100,483,782	V805A	possibly damaging	Het
AF366264	T	A	8: 13,837,996	I32L	probably benign	Het
Apcdd1	T	C	18: 62,951,845	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,465,930	F127I	probably benign	Het
Ccdc129	T	C	6: 55,897,686	I207T	probably damaging	Het
Ccdc138	T	C	10: 58,538,280	L374P	probably damaging	Het
Ces2b	A	G	8: 104,838,296	Y504C	probably damaging	Het
Ces5a	C	T	8: 93,502,322	G427S	probably damaging	Het
Chd1l	C	T	3: 97,591,316	V256M	probably damaging	Het
Col24a1	C	T	3: 145,315,299	T477M	probably damaging	Het
Dmbt1	T	A	7: 131,066,734	C573*	probably null	Het
Emcn	A	T	3: 137,417,094	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,071,144	M1R	probably null	Het
Fam83h	C	A	15: 76,005,167	D194Y	probably damaging	Het
Flywch1	T	C	17: 23,755,675	K664E	probably benign	Het
Fzd9	A	G	5: 135,249,690	V447A	probably benign	Het
Gm21964	G	T	8: 110,109,416	R119I	probably benign	Het
Heatr5b	T	C	17: 78,831,434	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,686,854	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,902	L258Q	probably damaging	Het
Kmo	T	A	1: 175,651,602	C235S	probably damaging	Het
Lamc2	G	A	1: 153,185,984	P2S	probably benign	Het
Lman2	G	A	13: 55,352,949	P146S	probably benign	Het
Mars2	T	C	1: 55,237,514	I92T	probably damaging	Het
Msh3	A	G	13: 92,354,822	F27L	probably benign	Het
Myom2	T	C	8: 15,084,577	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,295,107	*214R	probably null	Het
Nsd2	T	C	5: 33,885,511	F1040L	possibly damaging	Het
Olfr374	T	A	8: 72,110,157	I197N	possibly damaging	Het
Osm	T	A	11: 4,239,936	I240N	probably benign	Het
Pard3b	T	A	1: 62,440,032	D884E	probably benign	Het
Pex5	T	G	6: 124,405,272	D150A	probably benign	Het
Pfkfb4	T	C	9: 109,027,608	V394A	probably damaging	Het
Pjvk	A	G	2: 76,658,487	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,080,786	D171G	probably benign	Het
Prpf4b	T	G	13: 34,894,472	N688K	probably benign	Het
R3hcc1	T	C	14: 69,705,552	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,719,119	G207*	probably null	Het
Rhobtb3	G	T	13: 75,910,887	T264K	probably benign	Het
Rpl27	A	G	11: 101,442,406		probably benign	Het
Rxfp3	C	T	15: 11,036,777	V170I	possibly damaging	Het
Samd4	T	A	14: 47,016,683	S201R	probably benign	Het
Sell	A	G	1: 164,065,607	I131V	possibly damaging	Het
Sirpb1c	A	T	3: 15,833,059	Y205*	probably null	Het
Sowaha	C	A	11: 53,479,355	V185L	probably benign	Het
Spata4	A	C	8: 54,602,550	I159L	probably benign	Het
Tekt2	A	G	4: 126,322,381	I373T	probably benign	Het
Tomm20l	T	C	12: 71,117,539	V65A	probably benign	Het
Trabd2b	A	G	4: 114,409,350	D187G	probably damaging	Het
Trrap	A	G	5: 144,821,803	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,008	C440*	probably null	Het
Ube3b	A	C	5: 114,406,252	N570T	probably damaging	Het
Uevld	A	G	7: 46,950,976	I70T	probably damaging	Het
Usp10	C	T	8: 119,936,550	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,713,022	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,765,216	V601A	probably benign	Het
Wdr81	G	C	11: 75,446,002	N401K		Het
Ythdc2	G	T	18: 44,833,122	V142F	probably benign	Het
Zfp346	T	C	13: 55,105,450	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,542,239	V301M	possibly damaging	Het
Zim1	T	C	7: 6,678,221	K148E	possibly 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
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
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'- GCAGTGTTCCATCAGTTGACC -3'
(R):5'- CCCACAGCAAGTTCTCACTG -3'

Sequencing Primer
(F):5'- TCAGTTGACCAGTTCACAGG -3'
(R):5'- TGAACAGAAATCAGAACTGTACCTG -3'

Posted On

2019-05-15