Mutagenetix > Incidental Mutation

Incidental Mutation 'R8683:Smc3'

661923

Institutional Source

Beutler Lab

Gene Symbol

Smc3

Ensembl Gene

ENSMUSG00000024974

Gene Name

structural maintenance of chromosomes 3

Synonyms

Cspg6, Bamacan, Mmip1, SmcD

MMRRC Submission

068538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53588827-53634262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53629616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 994 (S994T)

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: S994T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: S994T

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: 99.6%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Actl11	T	A	9: 107,806,065 (GRCm39)	D129E	probably benign	Het
Adam12	T	A	7: 133,491,929 (GRCm39)	E877D	possibly damaging	Het
Adarb2	T	A	13: 8,807,395 (GRCm39)	V732E	probably damaging	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Adgrg1	C	T	8: 95,736,276 (GRCm39)	H477Y	probably damaging	Het
Ahctf1	T	C	1: 179,623,321 (GRCm39)	E99G	possibly damaging	Het
Ankk1	T	A	9: 49,329,292 (GRCm39)	M93L		Het
Ankmy1	A	T	1: 92,812,972 (GRCm39)	L446M	possibly damaging	Het
Anxa10	T	A	8: 62,510,825 (GRCm39)	Y309F	probably damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Atp6v0a4	T	A	6: 38,025,926 (GRCm39)	*834L	probably null	Het
Avl9	T	A	6: 56,730,378 (GRCm39)	S574T	probably benign	Het
AW551984	G	A	9: 39,511,005 (GRCm39)	T194I	possibly damaging	Het
Azin1	G	A	15: 38,493,775 (GRCm39)	L283F	probably damaging	Het
Birc6	G	A	17: 74,916,114 (GRCm39)	A1677T	possibly damaging	Het
Carm1	A	T	9: 21,497,464 (GRCm39)	D342V	possibly damaging	Het
Ccr4	T	C	9: 114,321,216 (GRCm39)	D283G	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntn2	A	T	1: 132,450,731 (GRCm39)	L548Q	probably damaging	Het
Copg1	A	G	6: 87,869,637 (GRCm39)	D172G	probably damaging	Het
Cyp2j12	T	A	4: 96,009,805 (GRCm39)	N185Y	probably benign	Het
Dapk3	T	C	10: 81,026,069 (GRCm39)	L120P	probably damaging	Het
Dclre1b	A	C	3: 103,711,298 (GRCm39)	S204R	probably damaging	Het
Dennd2a	G	A	6: 39,500,137 (GRCm39)	R143*	probably null	Het
Dnah5	A	T	15: 28,289,367 (GRCm39)	E1185D	probably benign	Het
Dop1b	C	T	16: 93,568,699 (GRCm39)	T1587I	probably damaging	Het
Dop1b	A	G	16: 93,570,809 (GRCm39)	T1603A	probably benign	Het
Dym	T	A	18: 75,363,089 (GRCm39)	V531E	probably damaging	Het
Dync2i1	G	T	12: 116,193,262 (GRCm39)	D563E	probably benign	Het
Ecpas	T	C	4: 58,834,515 (GRCm39)	S788G	probably benign	Het
Eif2b4	A	T	5: 31,345,274 (GRCm39)	F453L	probably damaging	Het
Entpd8	G	A	2: 24,974,992 (GRCm39)	G441D	probably damaging	Het
Galnt6	A	T	15: 100,592,603 (GRCm39)	Y535N	probably damaging	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gm10340	T	A	14: 14,826,748 (GRCm39)	D72E	possibly damaging	Het
Gm13102	T	A	4: 143,835,680 (GRCm39)	D449E	probably damaging	Het
Hdac9	T	A	12: 34,440,220 (GRCm39)	K386N	probably damaging	Het
Hgs	T	A	11: 120,366,044 (GRCm39)	C212*	probably null	Het
Hoxa2	C	A	6: 52,141,540 (GRCm39)	A29S	possibly damaging	Het
Ifnar1	T	A	16: 91,296,332 (GRCm39)	W278R	probably damaging	Het
Irf7	C	T	7: 140,843,422 (GRCm39)	G389R	probably null	Het
Lipo3	G	A	19: 33,759,604 (GRCm39)	L211F	probably benign	Het
Mars2	C	T	1: 55,277,741 (GRCm39)	T448I	probably benign	Het
Mcm4	C	A	16: 15,453,138 (GRCm39)	G184C	probably damaging	Het
Mmaa	C	T	8: 79,994,598 (GRCm39)	A403T	probably damaging	Het
Mmel1	A	G	4: 154,973,985 (GRCm39)	I342V	probably benign	Het
Myb	T	C	10: 21,026,405 (GRCm39)	T188A	possibly damaging	Het
Myo1g	C	T	11: 6,467,569 (GRCm39)		probably null	Het
Npas2	A	G	1: 39,386,708 (GRCm39)	Q659R	probably benign	Het
Npr1	A	G	3: 90,362,497 (GRCm39)	V941A	probably benign	Het
Numa1	T	G	7: 101,626,617 (GRCm39)	M1R	probably null	Het
Obscn	T	C	11: 58,967,705 (GRCm39)	S2700G	probably benign	Het
Or2t35	T	A	14: 14,407,480 (GRCm38)	L84H	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Or5g25	A	T	2: 85,478,410 (GRCm39)	I85N	probably benign	Het
Pdpr	T	A	8: 111,850,492 (GRCm39)	H476Q	probably damaging	Het
Pkd1l1	A	T	11: 8,821,805 (GRCm39)	S1630T		Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Ptgdr2	T	A	19: 10,917,893 (GRCm39)	W137R	possibly damaging	Het
Ptpra	A	G	2: 130,394,187 (GRCm39)	I784V	possibly damaging	Het
Rabepk	G	T	2: 34,685,188 (GRCm39)	D77E	possibly damaging	Het
Sh2b1	GGGGACCAGCTCAGCCACGGGGACCAGCTC	GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,743 (GRCm39)		probably benign	Het
Sparc	A	G	11: 55,292,783 (GRCm39)	C147R	probably damaging	Het
Supt6	A	T	11: 78,108,727 (GRCm39)	D1191E	probably benign	Het
Susd4	T	C	1: 182,719,832 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,291,631 (GRCm39)		probably null	Het
Tecta	T	G	9: 42,278,268 (GRCm39)	D1080A	probably damaging	Het
Tenm4	G	T	7: 96,552,064 (GRCm39)	W2538L	probably damaging	Het
Trappc9	A	G	15: 72,884,664 (GRCm39)	F439L	probably benign	Het
Tsbp1	A	T	17: 34,667,782 (GRCm39)	Q158L	possibly damaging	Het
Vegfa	A	T	17: 46,342,396 (GRCm39)	S141T	probably benign	Het
Vmn2r9	T	A	5: 108,996,873 (GRCm39)	D132V	probably benign	Het

Other mutations in Smc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Smc3	APN	19	53,617,758 (GRCm39)	missense	probably damaging	0.99
IGL01300:Smc3	APN	19	53,630,283 (GRCm39)	splice site	probably benign
IGL02136:Smc3	APN	19	53,624,147 (GRCm39)	missense	probably benign	0.02
IGL02216:Smc3	APN	19	53,610,275 (GRCm39)	missense	probably damaging	1.00
IGL02473:Smc3	APN	19	53,624,879 (GRCm39)	missense	probably benign	0.06
IGL02797:Smc3	APN	19	53,627,189 (GRCm39)	missense	probably benign	0.03
IGL02959:Smc3	APN	19	53,611,988 (GRCm39)	missense	probably benign	0.00
IGL03343:Smc3	APN	19	53,602,273 (GRCm39)	missense	probably damaging	1.00
Bits	UTSW	19	53,611,649 (GRCm39)	critical splice donor site	probably null
Pieces	UTSW	19	53,617,802 (GRCm39)	missense	probably damaging	0.99
Smithereens	UTSW	19	53,630,362 (GRCm39)	missense	probably damaging	1.00
R0081:Smc3	UTSW	19	53,589,993 (GRCm39)	splice site	probably benign
R0940:Smc3	UTSW	19	53,629,340 (GRCm39)	missense	probably benign	0.10
R1248:Smc3	UTSW	19	53,622,509 (GRCm39)	missense	probably benign	0.01
R1661:Smc3	UTSW	19	53,613,496 (GRCm39)	missense	probably benign	0.08
R1779:Smc3	UTSW	19	53,627,800 (GRCm39)	missense	probably benign	0.02
R2046:Smc3	UTSW	19	53,627,845 (GRCm39)	missense	probably benign	0.00
R2073:Smc3	UTSW	19	53,619,964 (GRCm39)	missense	probably benign	0.08
R2074:Smc3	UTSW	19	53,619,964 (GRCm39)	missense	probably benign	0.08
R3077:Smc3	UTSW	19	53,616,322 (GRCm39)	missense	probably benign	0.16
R4962:Smc3	UTSW	19	53,619,948 (GRCm39)	missense	probably damaging	0.99
R5684:Smc3	UTSW	19	53,629,235 (GRCm39)	missense	probably benign	0.00
R6020:Smc3	UTSW	19	53,613,594 (GRCm39)	critical splice donor site	probably null
R6169:Smc3	UTSW	19	53,622,517 (GRCm39)	missense	probably benign	0.02
R6221:Smc3	UTSW	19	53,630,362 (GRCm39)	missense	probably damaging	1.00
R6258:Smc3	UTSW	19	53,616,162 (GRCm39)	splice site	probably null
R6960:Smc3	UTSW	19	53,617,802 (GRCm39)	missense	probably damaging	0.99
R7048:Smc3	UTSW	19	53,617,682 (GRCm39)	missense	probably benign	0.01
R7148:Smc3	UTSW	19	53,630,326 (GRCm39)	missense	possibly damaging	0.93
R7157:Smc3	UTSW	19	53,630,329 (GRCm39)	missense	probably damaging	1.00
R7805:Smc3	UTSW	19	53,629,390 (GRCm39)	missense	probably benign	0.26
R7968:Smc3	UTSW	19	53,611,649 (GRCm39)	critical splice donor site	probably null
R8066:Smc3	UTSW	19	53,603,576 (GRCm39)	missense	probably damaging	1.00
R8202:Smc3	UTSW	19	53,617,123 (GRCm39)	missense	possibly damaging	0.94
R8472:Smc3	UTSW	19	53,617,142 (GRCm39)	missense	probably benign	0.02
R8827:Smc3	UTSW	19	53,611,085 (GRCm39)	missense	probably benign	0.01
R9072:Smc3	UTSW	19	53,617,200 (GRCm39)	missense	probably benign	0.00
R9073:Smc3	UTSW	19	53,617,200 (GRCm39)	missense	probably benign	0.00
R9355:Smc3	UTSW	19	53,622,544 (GRCm39)	critical splice donor site	probably null
R9428:Smc3	UTSW	19	53,617,150 (GRCm39)	missense	possibly damaging	0.48
X0026:Smc3	UTSW	19	53,613,551 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GAAGCAGGCAAGTCTACGTG -3'
(R):5'- GACTCACTTTACTATGTTGGTGGC -3'

Sequencing Primer
(F):5'- CAAGTCTACGTGCACTTTCAG -3'
(R):5'- CCTGTGAGCTGGATTAGTCC -3'

Posted On

2021-03-08