Mutagenetix > Incidental Mutation

Incidental Mutation 'R7487:Smc2'

580235

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

045561-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R7487 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52439243-52488260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52478448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1015 (I1015T)

Ref Sequence

ENSEMBL: ENSMUSP00000099979 (fasta)

Gene Model

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

AlphaFold

Q8CG48

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102915
AA Change: I1015T

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

SMART Domains

Protein: ENSMUSP00000099979
Gene: ENSMUSG00000028312
AA Change: I1015T

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

probably damaging
Transcript: ENSMUST00000117280
AA Change: I1015T

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

SMART Domains

Protein: ENSMUSP00000113940
Gene: ENSMUSG00000028312
AA Change: I1015T

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

Meta Mutation Damage Score

0.9118

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (89/89)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,629 (GRCm39)	D606V	probably damaging	Het
1700009N14Rik	T	A	4: 39,450,929 (GRCm39)	V45E	probably damaging	Het
2510009E07Rik	C	T	16: 21,472,479 (GRCm39)	V74M	probably damaging	Het
Abca2	C	T	2: 25,327,915 (GRCm39)	T739M	probably benign	Het
Abra	T	C	15: 41,732,949 (GRCm39)	E39G	probably damaging	Het
Adam34	A	T	8: 44,104,191 (GRCm39)	C485S	probably damaging	Het
Add2	G	T	6: 86,070,432 (GRCm39)	V175F	possibly damaging	Het
Alk	T	A	17: 72,256,893 (GRCm39)	K655N	probably benign	Het
Ap3m1	A	G	14: 21,088,107 (GRCm39)	V317A	probably benign	Het
Astn1	A	G	1: 158,438,352 (GRCm39)		probably null	Het
Atm	A	T	9: 53,435,654 (GRCm39)	Y219N	probably benign	Het
Cep128	C	T	12: 90,966,404 (GRCm39)	A1068T	probably benign	Het
Cep20	T	C	16: 14,128,968 (GRCm39)	D85G	probably benign	Het
Cnksr3	T	C	10: 7,085,097 (GRCm39)	Q250R	probably benign	Het
Cst7	A	G	2: 150,419,624 (GRCm39)	T97A	probably benign	Het
Ctps1	G	A	4: 120,415,997 (GRCm39)	L209F	probably damaging	Het
Cyp2d10	A	T	15: 82,288,793 (GRCm39)	F230I	probably benign	Het
Daam2	T	C	17: 49,793,510 (GRCm39)	N336D	probably benign	Het
Dchs2	T	C	3: 83,263,613 (GRCm39)	S3294P	probably damaging	Het
Dhx36	G	T	3: 62,391,623 (GRCm39)	N574K	possibly damaging	Het
Dock10	G	T	1: 80,562,765 (GRCm39)	Q533K	probably benign	Het
Dync2h1	A	G	9: 7,132,041 (GRCm39)	S1589P	probably benign	Het
Enpp3	T	A	10: 24,681,821 (GRCm39)	Y295F	probably benign	Het
Esrrg	T	A	1: 187,878,620 (GRCm39)	Y234N	probably benign	Het
Fadd	A	C	7: 144,134,462 (GRCm39)	V141G	probably damaging	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fam170b	T	A	14: 32,557,776 (GRCm39)	C204S	probably damaging	Het
Fam186a	T	A	15: 99,840,017 (GRCm39)	I2076F	possibly damaging	Het
Fdxacb1	G	A	9: 50,681,519 (GRCm39)	V147I	possibly damaging	Het
Frem2	C	A	3: 53,561,970 (GRCm39)	V846F	probably benign	Het
Fry	G	A	5: 150,338,039 (GRCm39)	S1449N	possibly damaging	Het
Gucy1b2	A	G	14: 62,685,672 (GRCm39)	F98L	probably damaging	Het
Hps1	T	C	19: 42,744,700 (GRCm39)	Y658C	probably damaging	Het
Igkv3-9	T	A	6: 70,565,506 (GRCm39)	L35Q	probably damaging	Het
Irx2	A	G	13: 72,778,739 (GRCm39)	Y101C	probably damaging	Het
Kcnj11	G	T	7: 45,748,265 (GRCm39)	R353S	probably benign	Het
Kyat3	C	T	3: 142,431,955 (GRCm39)	Q228*	probably null	Het
Lama3	T	A	18: 12,552,294 (GRCm39)	D415E	probably benign	Het
Lcn3	G	A	2: 25,656,174 (GRCm39)		probably null	Het
Lin7b	T	C	7: 45,019,364 (GRCm39)	E68G	possibly damaging	Het
Lmbr1	T	A	5: 29,459,262 (GRCm39)	K379M	probably benign	Het
Lrig1	A	G	6: 94,583,099 (GRCm39)	S1006P	probably benign	Het
Lrrc37a	T	G	11: 103,389,045 (GRCm39)	T2127P	unknown	Het
Map4	A	G	9: 109,856,783 (GRCm39)	D151G	probably damaging	Het
Marchf1	A	T	8: 66,908,726 (GRCm39)	T149S	probably benign	Het
Msh4	A	T	3: 153,569,147 (GRCm39)	F809I	probably damaging	Het
Muc16	G	A	9: 18,496,095 (GRCm39)	P6699S	possibly damaging	Het
Mxi1	A	T	19: 53,360,088 (GRCm39)	D270V	probably damaging	Het
Myh6	A	T	14: 55,190,953 (GRCm39)	C907*	probably null	Het
Myo18b	T	C	5: 112,982,299 (GRCm39)	R1145G	possibly damaging	Het
Nkx2-6	A	C	14: 69,409,389 (GRCm39)	N47H	probably benign	Het
Nol7	G	A	13: 43,552,076 (GRCm39)	A66T	probably damaging	Het
Ntrk3	T	C	7: 77,900,461 (GRCm39)	N626S	probably damaging	Het
Nwd1	A	G	8: 73,393,266 (GRCm39)	Y77C	unknown	Het
Or12d17	G	T	17: 37,777,457 (GRCm39)	R120L	probably damaging	Het
Or12k5	A	C	2: 36,894,786 (GRCm39)	V280G	probably damaging	Het
Or8c14-ps1	A	G	9: 38,101,356 (GRCm39)	S112G	probably damaging	Het
Or8j3b	A	T	2: 86,205,475 (GRCm39)	Y94N	probably damaging	Het
Or9s23	G	A	1: 92,501,517 (GRCm39)	G208D	possibly damaging	Het
Otop3	A	G	11: 115,235,826 (GRCm39)	D486G	probably benign	Het
Pak1ip1	A	G	13: 41,162,731 (GRCm39)	K178R	probably benign	Het
Pcsk1	G	A	13: 75,259,002 (GRCm39)	G259S	probably benign	Het
Pde6a	A	G	18: 61,383,031 (GRCm39)	D338G	probably damaging	Het
Pias4	A	T	10: 80,999,806 (GRCm39)	D82E	probably benign	Het
Plekha5	C	A	6: 140,516,059 (GRCm39)	Q771K	probably benign	Het
Plekhh3	C	A	11: 101,056,405 (GRCm39)	A397S	possibly damaging	Het
Prg4	G	T	1: 150,331,656 (GRCm39)	T339N	unknown	Het
Prss22	A	T	17: 24,216,971 (GRCm39)	I3N	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rspo2	T	C	15: 42,941,510 (GRCm39)	T138A	probably benign	Het
Rtcb	C	T	10: 85,789,333 (GRCm39)	G70S	probably benign	Het
Selenov	A	T	7: 27,989,803 (GRCm39)	S234T	probably damaging	Het
Shtn1	T	C	19: 58,992,292 (GRCm39)	T429A	probably damaging	Het
Slc4a3	G	T	1: 75,530,021 (GRCm39)	R622L	probably benign	Het
Spata9	G	T	13: 76,115,959 (GRCm39)	V3F	possibly damaging	Het
Tlr4	T	C	4: 66,842,659 (GRCm39)	I105T	probably benign	Het
Trav6d-4	A	T	14: 52,991,096 (GRCm39)	Y47F	possibly damaging	Het
Ttn	A	T	2: 76,657,377 (GRCm39)	I12450N	unknown	Het
Umad1	G	T	6: 8,270,560 (GRCm39)	A21S	probably damaging	Het
Unc5a	G	A	13: 55,144,362 (GRCm39)	R229H	probably benign	Het
Vmn1r216	A	T	13: 23,284,030 (GRCm39)	M238L	probably damaging	Het
Vps16	T	A	2: 130,280,977 (GRCm39)	C255*	probably null	Het
Wdr89	A	G	12: 75,679,388 (GRCm39)	F289L	probably benign	Het
Zfp180	A	T	7: 23,805,525 (GRCm39)	H648L	probably damaging	Het
Zfp735	A	G	11: 73,581,154 (GRCm39)	K64E	possibly damaging	Het
Zfp990	G	A	4: 145,264,157 (GRCm39)	C385Y	probably damaging	Het
Zswim3	G	T	2: 164,662,135 (GRCm39)	S205I	probably 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
R7486:Smc2	UTSW	4	52,462,861 (GRCm39)	missense	possibly damaging	0.54
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'- ACAAGCTCTTGGTTTCGGTAG -3'
(R):5'- TGCGAACATGTGCCCATTC -3'

Sequencing Primer
(F):5'- TCGGTAGTTGAATTTTCCTGTATG -3'
(R):5'- TTCAAGCTACACAGGGCTG -3'

Posted On

2019-10-07