Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Smc2'

210033

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

039927-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52439243-52488260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52450863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 227 (I227T)

Ref Sequence

ENSEMBL: ENSMUSP00000113940 (fasta)

Gene Model

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

AlphaFold

Q8CG48

Predicted Effect

probably damaging
Transcript: ENSMUST00000102915
AA Change: I227T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099979
Gene: ENSMUSG00000028312
AA Change: I227T

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: I227T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113940
Gene: ENSMUSG00000028312
AA Change: I227T

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

noncoding transcript
Transcript: ENSMUST00000131163

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142227
AA Change: I227T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114228
Gene: ENSMUSG00000028312
AA Change: I227T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146787

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,847,924 (GRCm39)	L852F	possibly damaging	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Alg11	T	G	8: 22,555,584 (GRCm39)	C240G	probably damaging	Het
Aox1	A	G	1: 58,141,783 (GRCm39)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,150,678 (GRCm39)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,528,511 (GRCm39)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,763,340 (GRCm39)	S865R	probably benign	Het
Ass1	T	A	2: 31,383,160 (GRCm39)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,187,051 (GRCm39)		probably null	Het
Btnl10	C	A	11: 58,811,367 (GRCm39)	P230Q	possibly damaging	Het
C3	A	G	17: 57,516,489 (GRCm39)	Y1348H	probably damaging	Het
Ccdc198	G	T	14: 49,464,032 (GRCm39)	D292E	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cic	C	A	7: 24,986,265 (GRCm39)	T1229K	probably damaging	Het
Clip4	T	C	17: 72,144,744 (GRCm39)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,739,421 (GRCm39)	I269R	probably damaging	Het
Dbh	C	T	2: 27,071,506 (GRCm39)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 70,890,713 (GRCm39)	R83*	probably null	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dnah1	A	G	14: 30,984,515 (GRCm39)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,670,721 (GRCm39)	D510E	probably benign	Het
Dock6	A	G	9: 21,752,925 (GRCm39)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,177,455 (GRCm39)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,352,737 (GRCm39)	G461V	possibly damaging	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gm10684	A	G	9: 45,021,511 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,806,231 (GRCm39)	E320G	probably benign	Het
Gm14412	G	T	2: 177,007,269 (GRCm39)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,007,630 (GRCm39)	S88R	probably benign	Het
Grhl1	T	A	12: 24,658,555 (GRCm39)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,664,511 (GRCm39)	Y216*	probably null	Het
Hephl1	A	C	9: 14,985,420 (GRCm39)	Y745*	probably null	Het
Hmcn2	T	G	2: 31,301,922 (GRCm39)		probably null	Het
Hs3st6	A	G	17: 24,977,110 (GRCm39)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,357,077 (GRCm39)	V9I	probably benign	Het
Jakmip2	T	C	18: 43,700,209 (GRCm39)	T450A	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,351,634 (GRCm39)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,321,291 (GRCm39)	I58F	probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,308 (GRCm39)	V1499E	probably damaging	Het
Myom2	G	T	8: 15,131,023 (GRCm39)	D320Y	probably damaging	Het
Or11g7	T	A	14: 50,691,295 (GRCm39)	M262K	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2r11	C	T	6: 42,437,360 (GRCm39)	V198M	probably benign	Het
Or2t26	A	C	11: 49,039,101 (GRCm39)	N6H	possibly damaging	Het
Or4c115	G	A	2: 88,927,888 (GRCm39)	P128S	probably damaging	Het
Or5d47	A	T	2: 87,804,403 (GRCm39)	V202D	possibly damaging	Het
Pabpc4	G	T	4: 123,182,861 (GRCm39)	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prdm15	G	T	16: 97,638,885 (GRCm39)	D58E	probably benign	Het
Rgl2	A	G	17: 34,151,122 (GRCm39)	T117A	probably benign	Het
Rp1	A	G	1: 4,418,943 (GRCm39)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,207,536 (GRCm39)	E233G	probably damaging	Het
Skint6	T	A	4: 112,749,187 (GRCm39)	S798C	probably benign	Het
Slc35f1	T	C	10: 52,898,000 (GRCm39)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,485,373 (GRCm39)	N246S	probably damaging	Het
Slc7a2	T	C	8: 41,369,534 (GRCm39)	L663S	probably benign	Het
Slco1a4	A	G	6: 141,761,173 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,439,330 (GRCm39)	T41A	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Ssu2	A	T	6: 112,361,388 (GRCm39)	L23M	probably benign	Het
Syne2	A	G	12: 76,141,053 (GRCm39)		probably null	Het
Tekt1	T	C	11: 72,242,761 (GRCm39)	T249A	probably benign	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,605,846 (GRCm39)	P529L	probably damaging	Het
Tll1	C	T	8: 64,478,141 (GRCm39)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,598,664 (GRCm39)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,673,479 (GRCm39)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,367,026 (GRCm39)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,601,650 (GRCm39)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,945,436 (GRCm39)	T724A	probably benign	Het
Wdr11	T	C	7: 129,206,954 (GRCm39)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,107,047 (GRCm39)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,381,897 (GRCm39)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,159,987 (GRCm39)	M1R	probably null	Het
Zkscan8	G	A	13: 21,709,325 (GRCm39)	P191L	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
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
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'- GCCAGAGTTCTGAGATTATAGTTTC -3'
(R):5'- TCCAGTGAATCCTAAAGTCATGG -3'

Sequencing Primer
(F):5'- GTGAGGTTCCTCCCTAAA -3'
(R):5'- CAGTGAATCCTAAAGTCATGGTATAG -3'

Posted On

2014-06-30