Mutagenetix > Incidental Mutation

Incidental Mutation 'R7486:Smc2'

580148

Institutional Source

Beutler Lab

Gene Symbol

Smc2

Ensembl Gene

ENSMUSG00000028312

Gene Name

structural maintenance of chromosomes 2

Synonyms

5730502P04Rik, CAP-E, Fin16, Smc2l1

MMRRC Submission

045560-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R7486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52439243-52488260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52462861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 617 (Q617L)

Ref Sequence

ENSEMBL: ENSMUSP00000099979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102915] [ENSMUST00000117280] [ENSMUST00000142227]

AlphaFold

Q8CG48

PDB Structure

Crystal Structure of the Mouse Condensin Hinge Domain [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102915
AA Change: Q617L

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099979
Gene: ENSMUSG00000028312
AA Change: Q617L

Domain	Start	End	E-Value	Type
internal_repeat_1	146	174	2.4e-6	PROSPERO
low complexity region	183	207	N/A	INTRINSIC
coiled coil region	238	355	N/A	INTRINSIC
coiled coil region	400	503	N/A	INTRINSIC
SMC_hinge	520	640	3.8e-34	SMART
coiled coil region	676	880	N/A	INTRINSIC
coiled coil region	984	1031	N/A	INTRINSIC
PDB:4I99\|B	1034	1186	3e-15	PDB
SCOP:d1e69a_	1066	1144	2e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117280
AA Change: Q617L

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113940
Gene: ENSMUSG00000028312
AA Change: Q617L

Domain	Start	End	E-Value	Type
Pfam:AAA_21	27	131	3.8e-6	PFAM
internal_repeat_1	146	174	2.4e-6	PROSPERO
low complexity region	183	207	N/A	INTRINSIC
coiled coil region	238	355	N/A	INTRINSIC
coiled coil region	400	503	N/A	INTRINSIC
SMC_hinge	520	640	3.8e-34	SMART
coiled coil region	676	880	N/A	INTRINSIC
coiled coil region	984	1031	N/A	INTRINSIC
PDB:4I99\|B	1034	1186	3e-15	PDB
SCOP:d1e69a_	1066	1144	2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142227

SMART Domains

Protein: ENSMUSP00000114228
Gene: ENSMUSG00000028312

Domain	Start	End	E-Value	Type
Pfam:SMC_N	2	351	2.3e-36	PFAM
Pfam:AAA_21	27	131	1.7e-8	PFAM
coiled coil region	400	471	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a component of both condensin I and condensin II complexes, and forms a heterodimer with structural maintenance of chromosome 4 (Smc4). This heterodimer is the catalytic subunit for both condensin complexes, and is involved in several processes, including chromosome condensation during mitosis and meiosis, cohesin removal during mitosis and meiosis, and single-strand break (SSB) repair. Reduced expression of this gene results in chromosome segregation defects during mitosis and meiosis, with a more severe defect observed in embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice die embryonically. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,605,657 (GRCm39)	I702V	probably benign	Het
Adgre5	T	C	8: 84,450,515 (GRCm39)	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,523,330 (GRCm39)	V298A		Het
Akp3	A	G	1: 87,053,201 (GRCm39)	D91G	probably damaging	Het
Ano8	A	G	8: 71,937,642 (GRCm39)		probably null	Het
Blvra	T	C	2: 126,929,243 (GRCm39)	S136P	unknown	Het
Cacul1	T	A	19: 60,568,868 (GRCm39)	M97L	probably benign	Het
Ccdc80	T	C	16: 44,946,542 (GRCm39)	V827A	probably damaging	Het
Cep68	T	C	11: 20,192,166 (GRCm39)	E11G	probably benign	Het
Cfap221	A	T	1: 119,851,322 (GRCm39)	V813E	possibly damaging	Het
Chd6	A	G	2: 160,791,923 (GRCm39)	V2478A	probably damaging	Het
Chmp6	T	C	11: 119,807,783 (GRCm39)	F148S	probably benign	Het
Clca3a2	T	A	3: 144,503,362 (GRCm39)	I863F	probably damaging	Het
Cnnm2	T	C	19: 46,750,513 (GRCm39)	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,400,109 (GRCm39)		probably null	Het
Dmbt1	T	G	7: 130,668,192 (GRCm39)	C483G	unknown	Het
Dnah7b	G	A	1: 46,329,894 (GRCm39)	G3246D	probably damaging	Het
Dnajc3	C	A	14: 119,209,816 (GRCm39)	T297K	probably benign	Het
Dpm3	A	G	3: 89,174,034 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erc1	G	A	6: 119,571,907 (GRCm39)	Q1022*	probably null	Het
Ercc5	T	A	1: 44,187,224 (GRCm39)	M1K	probably null	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fat4	C	A	3: 39,011,576 (GRCm39)	Y2225*	probably null	Het
Frk	G	A	10: 34,423,292 (GRCm39)	W123*	probably null	Het
Gm11568	T	A	11: 99,749,292 (GRCm39)	C166S	unknown	Het
Gpr153	A	G	4: 152,366,858 (GRCm39)	D337G	probably benign	Het
Gpt2	T	C	8: 86,252,235 (GRCm39)	F517L	probably damaging	Het
Gsg1	C	T	6: 135,214,427 (GRCm39)	E361K	probably benign	Het
Hsfy2	G	A	1: 56,676,130 (GRCm39)	R136*	probably null	Het
Insm1	G	A	2: 146,065,738 (GRCm39)	R518H	probably damaging	Het
Kank1	G	A	19: 25,388,193 (GRCm39)	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,825,357 (GRCm39)	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,254,180 (GRCm39)	V199A	probably benign	Het
Lamb1	T	G	12: 31,337,441 (GRCm39)	S391A	probably benign	Het
Larp7-ps	A	T	4: 92,079,506 (GRCm39)	V105E	probably benign	Het
Macf1	T	G	4: 123,303,374 (GRCm39)	D376A	probably benign	Het
Map7d1	C	A	4: 126,128,179 (GRCm39)	R614L	unknown	Het
Mcm8	C	T	2: 132,681,440 (GRCm39)	R667W	probably damaging	Het
Med13l	C	T	5: 118,866,539 (GRCm39)	T531I	probably benign	Het
Mstn	G	T	1: 53,103,128 (GRCm39)	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,434,690 (GRCm39)	R2251K	probably damaging	Het
Myo19	T	C	11: 84,796,463 (GRCm39)	S692P	probably benign	Het
Nipbl	A	T	15: 8,325,120 (GRCm39)	N2514K	probably benign	Het
Nkd2	T	A	13: 73,995,561 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,219 (GRCm39)	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,275,805 (GRCm39)	Y135H	probably benign	Het
Oog3	T	A	4: 143,884,742 (GRCm39)	H398L	probably benign	Het
Or10g9	T	A	9: 39,912,181 (GRCm39)	Y114F	probably benign	Het
Or12j4	C	T	7: 140,045,947 (GRCm39)		probably benign	Het
Or1e29	T	C	11: 73,667,847 (GRCm39)	Y102C	probably damaging	Het
Otogl	A	G	10: 107,657,849 (GRCm39)	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,706,050 (GRCm39)	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,154,610 (GRCm39)	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,803,461 (GRCm39)	D435G	probably benign	Het
Pcnt	G	T	10: 76,254,270 (GRCm39)	T853K	probably benign	Het
Pcnt	T	C	10: 76,254,271 (GRCm39)	T853A	probably benign	Het
Pgghg	T	A	7: 140,522,393 (GRCm39)	S57R	probably benign	Het
Ppm1m	T	C	9: 106,073,810 (GRCm39)	D301G	probably damaging	Het
Ppp6r1	A	G	7: 4,642,899 (GRCm39)	V519A	probably benign	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 24,063,072 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,640,201 (GRCm39)		probably null	Het
Robo4	T	C	9: 37,316,870 (GRCm39)	V395A	probably damaging	Het
Scrib	A	G	15: 75,929,499 (GRCm39)	S1123P	probably damaging	Het
Setd1b	A	G	5: 123,301,655 (GRCm39)	K45E	probably benign	Het
Slc14a1	T	C	18: 78,154,739 (GRCm39)	S216G	probably benign	Het
Slc25a45	A	G	19: 5,934,997 (GRCm39)	Y282C	probably damaging	Het
Slc6a5	T	C	7: 49,567,078 (GRCm39)	S255P	possibly damaging	Het
Spo11	G	A	2: 172,825,870 (GRCm39)	D103N	probably benign	Het
Tcf20	A	T	15: 82,737,935 (GRCm39)	M1172K	possibly damaging	Het
Tesc	T	A	5: 118,184,382 (GRCm39)	S21T	probably benign	Het
Tie1	C	A	4: 118,337,101 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trpm7	A	G	2: 126,673,115 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,965,259 (GRCm39)	D193G	possibly damaging	Het
Upk3a	A	T	15: 84,902,225 (GRCm39)		probably null	Het
Vmn2r25	T	C	6: 123,800,101 (GRCm39)	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		probably benign	Het
Zbtb2	G	A	10: 4,319,025 (GRCm39)	Q334*	probably null	Het
Zfp653	T	C	9: 21,967,824 (GRCm39)	N494D	probably damaging	Het
Zfp865	A	G	7: 5,034,259 (GRCm39)	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,755,612 (GRCm39)	S1014P	possibly damaging	Het

Other mutations in Smc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Smc2	APN	4	52,450,842 (GRCm39)	missense	probably damaging	1.00
IGL02045:Smc2	APN	4	52,462,914 (GRCm39)	missense	probably benign	0.01
IGL03013:Smc2	APN	4	52,442,280 (GRCm39)	missense	probably damaging	1.00
IGL03031:Smc2	APN	4	52,449,638 (GRCm39)	missense	probably benign	0.35
IGL03246:Smc2	APN	4	52,440,301 (GRCm39)	nonsense	probably null
Janitor	UTSW	4	52,478,448 (GRCm39)	missense	probably damaging	1.00
R0539:Smc2	UTSW	4	52,458,558 (GRCm39)	missense	probably benign	0.01
R0782:Smc2	UTSW	4	52,469,799 (GRCm39)	missense	probably benign	0.30
R1908:Smc2	UTSW	4	52,450,863 (GRCm39)	missense	probably damaging	0.97
R2054:Smc2	UTSW	4	52,462,948 (GRCm39)	missense	probably benign	0.00
R2109:Smc2	UTSW	4	52,474,987 (GRCm39)	missense	probably benign	0.00
R2318:Smc2	UTSW	4	52,446,030 (GRCm39)	missense	probably damaging	1.00
R2352:Smc2	UTSW	4	52,460,266 (GRCm39)	missense	probably benign
R3418:Smc2	UTSW	4	52,476,850 (GRCm39)	splice site	probably benign
R4003:Smc2	UTSW	4	52,462,897 (GRCm39)	missense	probably damaging	1.00
R4133:Smc2	UTSW	4	52,450,947 (GRCm39)	missense	probably damaging	0.99
R4299:Smc2	UTSW	4	52,440,238 (GRCm39)	utr 5 prime	probably benign
R4547:Smc2	UTSW	4	52,467,866 (GRCm39)	missense	probably benign	0.09
R4787:Smc2	UTSW	4	52,462,927 (GRCm39)	missense	probably damaging	0.98
R4816:Smc2	UTSW	4	52,451,231 (GRCm39)	missense	probably benign	0.00
R4829:Smc2	UTSW	4	52,449,612 (GRCm39)	missense	probably damaging	0.98
R4861:Smc2	UTSW	4	52,461,090 (GRCm39)	missense	probably benign	0.14
R4861:Smc2	UTSW	4	52,461,090 (GRCm39)	missense	probably benign	0.14
R4951:Smc2	UTSW	4	52,462,926 (GRCm39)	missense	possibly damaging	0.95
R4963:Smc2	UTSW	4	52,450,826 (GRCm39)	missense	probably damaging	1.00
R4996:Smc2	UTSW	4	52,461,042 (GRCm39)	splice site	probably null
R5028:Smc2	UTSW	4	52,458,447 (GRCm39)	missense	probably damaging	0.96
R5103:Smc2	UTSW	4	52,459,033 (GRCm39)	missense	probably damaging	1.00
R5159:Smc2	UTSW	4	52,460,181 (GRCm39)	missense	possibly damaging	0.65
R5387:Smc2	UTSW	4	52,475,096 (GRCm39)	missense	probably benign	0.16
R5697:Smc2	UTSW	4	52,459,045 (GRCm39)	missense	probably benign	0.01
R6006:Smc2	UTSW	4	52,459,024 (GRCm39)	missense	probably benign
R6246:Smc2	UTSW	4	52,460,289 (GRCm39)	missense	probably damaging	1.00
R6321:Smc2	UTSW	4	52,462,814 (GRCm39)	missense	probably benign
R6590:Smc2	UTSW	4	52,449,375 (GRCm39)	missense	probably benign	0.01
R6658:Smc2	UTSW	4	52,451,322 (GRCm39)	missense	probably benign	0.21
R6690:Smc2	UTSW	4	52,449,375 (GRCm39)	missense	probably benign	0.01
R7422:Smc2	UTSW	4	52,440,301 (GRCm39)	missense	probably benign	0.02
R7487:Smc2	UTSW	4	52,478,448 (GRCm39)	missense	probably damaging	1.00
R7532:Smc2	UTSW	4	52,451,013 (GRCm39)	missense	probably damaging	1.00
R7556:Smc2	UTSW	4	52,457,379 (GRCm39)	missense	probably benign	0.03
R7912:Smc2	UTSW	4	52,450,854 (GRCm39)	missense	probably benign	0.00
R7953:Smc2	UTSW	4	52,470,911 (GRCm39)	critical splice donor site	probably null
R7979:Smc2	UTSW	4	52,450,857 (GRCm39)	missense	probably damaging	1.00
R8343:Smc2	UTSW	4	52,450,965 (GRCm39)	missense	probably benign
R8344:Smc2	UTSW	4	52,449,376 (GRCm39)	missense	probably benign	0.01
R8495:Smc2	UTSW	4	52,450,992 (GRCm39)	missense	probably benign	0.00
R8880:Smc2	UTSW	4	52,462,856 (GRCm39)	missense	probably benign	0.00
R8988:Smc2	UTSW	4	52,475,100 (GRCm39)	missense	probably benign
R9201:Smc2	UTSW	4	52,446,044 (GRCm39)	missense	probably damaging	1.00
R9263:Smc2	UTSW	4	52,470,848 (GRCm39)	missense	possibly damaging	0.89
R9287:Smc2	UTSW	4	52,449,361 (GRCm39)	missense	probably damaging	1.00
R9534:Smc2	UTSW	4	52,462,870 (GRCm39)	missense	probably damaging	1.00
RF006:Smc2	UTSW	4	52,442,276 (GRCm39)	missense	probably benign	0.03
X0065:Smc2	UTSW	4	52,440,370 (GRCm39)	missense	probably damaging	1.00
Z1176:Smc2	UTSW	4	52,481,682 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCGAACTTGGTATCGGC -3'
(R):5'- GAGCGCTTTGACACTCTTCTG -3'

Sequencing Primer
(F):5'- CTGTGGACCAGAATAGTCTTGAACTC -3'
(R):5'- TGACTCAGAGGCATAAACAACTTATC -3'

Posted On

2019-10-07