Mutagenetix > Incidental Mutation

Incidental Mutation 'R6221:Smc3'

504058

Institutional Source

Beutler Lab

Gene Symbol

Smc3

Ensembl Gene

ENSMUSG00000024974

Gene Name

structural maintenance of chromosomes 3

Synonyms

Cspg6, Bamacan, Mmip1, SmcD

MMRRC Submission

044432-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53588827-53634262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53630362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1123 (V1123E)

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 damaging
Transcript: ENSMUST00000025930
AA Change: V1123E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: V1123E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171083

Meta Mutation Damage Score

0.9230

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,824,874 (GRCm39)	M108V	probably benign	Het
Adgrl1	C	T	8: 84,664,316 (GRCm39)	Q1236*	probably null	Het
Adprhl1	T	C	8: 13,275,634 (GRCm39)	I375V	probably benign	Het
Bsn	A	G	9: 107,982,765 (GRCm39)	S3663P	unknown	Het
Cfap44	A	T	16: 44,257,549 (GRCm39)	Q1028L	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Col1a2	T	C	6: 4,539,490 (GRCm39)	S1253P	unknown	Het
Dkk3	A	G	7: 111,720,853 (GRCm39)	Y158H	probably damaging	Het
Dmxl1	A	G	18: 50,004,799 (GRCm39)	Y949C	probably damaging	Het
E130311K13Rik	T	C	3: 63,823,152 (GRCm39)	Y164C	probably benign	Het
Evx1	T	A	6: 52,293,768 (GRCm39)	V312E	probably damaging	Het
Fam240b	T	C	13: 64,629,591 (GRCm39)	N75S	probably benign	Het
Fat2	A	G	11: 55,186,898 (GRCm39)		probably null	Het
Fbn1	G	T	2: 125,162,841 (GRCm39)	D2148E	probably benign	Het
Fzd4	A	G	7: 89,054,100 (GRCm39)	H69R	probably damaging	Het
Fzd6	T	C	15: 38,894,239 (GRCm39)	V135A	probably benign	Het
Gimap8	T	C	6: 48,635,876 (GRCm39)	L547S	probably damaging	Het
Gnrhr	G	A	5: 86,333,262 (GRCm39)	Q203*	probably null	Het
Gpaa1	T	G	15: 76,218,032 (GRCm39)	V341G	probably benign	Het
Grik3	T	A	4: 125,598,916 (GRCm39)	L828Q	probably damaging	Het
Heatr5b	T	C	17: 79,074,383 (GRCm39)	N1568S	probably benign	Het
Hpf1	T	A	8: 61,346,808 (GRCm39)	V41E	probably damaging	Het
Hsd3b1	A	T	3: 98,760,472 (GRCm39)	M173K	probably benign	Het
Hsd3b6	A	G	3: 98,713,849 (GRCm39)	I150T	probably benign	Het
Ica1	C	G	6: 8,644,181 (GRCm39)	L369F	possibly damaging	Het
Inf2	T	G	12: 112,570,179 (GRCm39)	S293A	possibly damaging	Het
Klra10	T	C	6: 130,246,235 (GRCm39)	T247A	probably benign	Het
Kpna1	G	A	16: 35,841,058 (GRCm39)	G91D	probably benign	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Ltb4r2	C	T	14: 55,999,540 (GRCm39)	R54W	probably damaging	Het
Mki67	A	G	7: 135,299,643 (GRCm39)	F1797S	probably benign	Het
Mlh3	C	A	12: 85,315,192 (GRCm39)	Q331H	possibly damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Odad1	T	C	7: 45,596,903 (GRCm39)	L410P	probably damaging	Het
Or5b124	T	A	19: 13,610,830 (GRCm39)	Y118*	probably null	Het
Oxct2b	T	C	4: 123,010,601 (GRCm39)	Y174H	probably damaging	Het
Pakap	C	T	4: 57,855,618 (GRCm39)	Q559*	probably null	Het
Pclo	G	A	5: 14,725,327 (GRCm39)	R1395Q	unknown	Het
Ppara	A	G	15: 85,661,881 (GRCm39)	I41V	probably benign	Het
Ppip5k2	A	T	1: 97,657,753 (GRCm39)	I766K	probably damaging	Het
Ppm1j	A	G	3: 104,693,092 (GRCm39)	N483S	possibly damaging	Het
Prex2	T	C	1: 11,336,236 (GRCm39)	I1478T	probably benign	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rsl1d1	A	G	16: 11,019,175 (GRCm39)	V121A	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Slc15a1	T	C	14: 121,702,316 (GRCm39)	Q610R	probably null	Het
Slc1a6	A	G	10: 78,635,910 (GRCm39)	E325G	probably damaging	Het
Slc7a13	A	G	4: 19,839,305 (GRCm39)	I303V	probably benign	Het
Smco1	G	A	16: 32,092,023 (GRCm39)	V34I	probably benign	Het
Spag1	A	G	15: 36,197,949 (GRCm39)	R304G	probably benign	Het
Spata31f1e	A	T	4: 42,793,153 (GRCm39)	N326K	probably benign	Het
Spta1	A	G	1: 174,009,342 (GRCm39)	D293G	probably damaging	Het
Sspo	C	A	6: 48,440,639 (GRCm39)	P1751Q	probably damaging	Het
Syt14	A	T	1: 192,612,908 (GRCm39)	Y631N	probably damaging	Het
Taar3	A	G	10: 23,825,970 (GRCm39)	N172S	possibly damaging	Het
Tank	A	G	2: 61,480,427 (GRCm39)	E321G	probably damaging	Het
Tcstv5	T	G	13: 120,411,534 (GRCm39)	H24P	probably damaging	Het
Thbs1	C	A	2: 117,950,478 (GRCm39)	L704M	probably damaging	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Togaram1	A	T	12: 65,013,320 (GRCm39)	E190D	probably damaging	Het
Traf1	A	C	2: 34,838,313 (GRCm39)	V175G	probably benign	Het
Trib3	A	T	2: 152,180,528 (GRCm39)	C222S	probably damaging	Het
Tsen34	T	A	7: 3,698,543 (GRCm39)	I229N	probably damaging	Het
Ttc28	A	G	5: 111,419,114 (GRCm39)	D1370G	probably benign	Het
Ugt1a5	G	A	1: 88,093,964 (GRCm39)	R64H	probably benign	Het
Vdac2	G	A	14: 21,895,246 (GRCm39)	G265R	possibly damaging	Het
Vdac3	A	G	8: 23,078,759 (GRCm39)	V17A	possibly damaging	Het
Yif1b	C	T	7: 28,945,207 (GRCm39)	T220I	possibly damaging	Het
Zfp846	T	G	9: 20,504,591 (GRCm39)	H150Q	possibly damaging	Het
Zwilch	A	T	9: 64,068,665 (GRCm39)	H181Q	probably damaging	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
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
R8683:Smc3	UTSW	19	53,629,616 (GRCm39)	missense	possibly damaging	0.50
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'- GCTACAGCATTATCATAGTAGACGTC -3'
(R):5'- AACTGAGCTGTCTTGGTGGC -3'

Sequencing Primer
(F):5'- GACGTCATATTTTACCTGAACTGC -3'
(R):5'- TCACTGAACCTGAAGCTCCTGG -3'

Posted On

2018-02-28