Mutagenetix > Incidental Mutation

Incidental Mutation 'R8988:Smc2'

684198

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

068820-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R8988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52439243-52488260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52475100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 925 (D925E)

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 benign
Transcript: ENSMUST00000102915
AA Change: D925E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099979
Gene: ENSMUSG00000028312
AA Change: D925E

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 benign
Transcript: ENSMUST00000117280
AA Change: D925E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113940
Gene: ENSMUSG00000028312
AA Change: D925E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	C	T	1: 60,489,251 (GRCm39)	T291I	probably benign	Het
Aox1	A	C	1: 58,088,625 (GRCm39)	D137A	possibly damaging	Het
Apbb2	T	C	5: 66,609,444 (GRCm39)	K68E	probably damaging	Het
Arf3	A	T	15: 98,638,933 (GRCm39)	M108K	probably benign	Het
Atg2b	T	A	12: 105,583,388 (GRCm39)	I2058F	probably damaging	Het
Bhlhe40	C	T	6: 108,639,518 (GRCm39)	L99F	probably damaging	Het
Cd200l1	T	C	16: 45,238,271 (GRCm39)	H294R	probably benign	Het
Cyp2b10	G	A	7: 25,625,670 (GRCm39)	R500H	probably damaging	Het
Dlc1	C	T	8: 37,039,997 (GRCm39)	E937K	probably damaging	Het
Dll3	A	T	7: 27,995,793 (GRCm39)	V336D	possibly damaging	Het
Dync2h1	A	G	9: 7,037,727 (GRCm39)	F3377L	probably benign	Het
Eef1d	A	G	15: 75,768,160 (GRCm39)	Y561H	probably damaging	Het
Efcab3	T	G	11: 104,911,352 (GRCm39)	V4544G	probably benign	Het
Epb41l1	C	A	2: 156,363,591 (GRCm39)	T700K	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Ephb2	C	A	4: 136,402,769 (GRCm39)	G501C	probably benign	Het
Erbb3	T	C	10: 128,406,030 (GRCm39)	Y1129C	probably damaging	Het
Fbn1	C	T	2: 125,212,726 (GRCm39)	V799M	possibly damaging	Het
Fbxo9	G	A	9: 77,991,933 (GRCm39)	P353S	probably benign	Het
Ggt1	T	G	10: 75,412,056 (GRCm39)	V100G	probably benign	Het
Gm45861	T	C	8: 28,032,531 (GRCm39)	M885T	unknown	Het
Grin2d	A	T	7: 45,483,425 (GRCm39)	Y917*	probably null	Het
Hectd4	T	A	5: 121,415,819 (GRCm39)	V540D	possibly damaging	Het
Helz	T	A	11: 107,495,079 (GRCm39)	I351K	probably damaging	Het
Ighv2-6-8	A	G	12: 113,759,980 (GRCm39)	V43A	probably damaging	Het
Igkv9-129	T	A	6: 67,817,106 (GRCm39)	I70N	probably damaging	Het
Il18	A	T	9: 50,489,178 (GRCm39)	D69V	probably damaging	Het
Kcnh7	T	A	2: 62,552,209 (GRCm39)	E927D		Het
Kcnt2	T	A	1: 140,356,587 (GRCm39)	V342E	probably benign	Het
Khdc4	A	G	3: 88,607,286 (GRCm39)	N330S	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Krt18	C	G	15: 101,937,962 (GRCm39)	A153G	probably damaging	Het
Lmntd2	A	T	7: 140,791,977 (GRCm39)		probably benign	Het
Lrrc26	G	T	2: 25,180,286 (GRCm39)	A96S	probably benign	Het
Map3k11	A	T	19: 5,752,166 (GRCm39)	S783C	probably damaging	Het
Mib2	G	A	4: 155,740,729 (GRCm39)	L632F	possibly damaging	Het
Mical2	A	C	7: 111,910,661 (GRCm39)	D277A	possibly damaging	Het
Mtr	A	T	13: 12,250,365 (GRCm39)	F339L	probably benign	Het
Musk	T	C	4: 58,354,032 (GRCm39)	F362L	probably benign	Het
Ncor1	G	A	11: 62,233,871 (GRCm39)	Q444*	probably null	Het
Nek4	T	C	14: 30,685,924 (GRCm39)	S279P		Het
Nell1	C	T	7: 50,210,543 (GRCm39)	T348I	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nrip1	T	C	16: 76,088,902 (GRCm39)	H885R	probably damaging	Het
Or13a19	G	A	7: 139,902,938 (GRCm39)	G109R	possibly damaging	Het
Or2a5	T	A	6: 42,874,201 (GRCm39)	V272D		Het
Or2y12	C	A	11: 49,426,028 (GRCm39)	N5K	probably damaging	Het
Or6c208	T	C	10: 129,224,240 (GRCm39)	V246A	probably damaging	Het
Or6c69c	T	A	10: 129,910,522 (GRCm39)	V81D	possibly damaging	Het
Or6d14	A	G	6: 116,534,255 (GRCm39)	T290A	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
P3h3	C	A	6: 124,834,564 (GRCm39)	Q29H	possibly damaging	Het
Parn	A	G	16: 13,466,281 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,245,407 (GRCm39)	E1077*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigb	A	G	9: 72,929,576 (GRCm39)	W336R	probably damaging	Het
Pkdrej	A	T	15: 85,700,538 (GRCm39)	S1799R	probably damaging	Het
Pnpla6	G	T	8: 3,567,401 (GRCm39)	M86I	possibly damaging	Het
Prickle2	T	C	6: 92,435,620 (GRCm39)	K50E	possibly damaging	Het
Psg21	A	G	7: 18,386,389 (GRCm39)	V199A	probably benign	Het
Reep3	T	C	10: 66,871,786 (GRCm39)		probably null	Het
Reln	T	C	5: 22,104,155 (GRCm39)	D3272G	probably damaging	Het
Rps6ka4	A	G	19: 6,808,667 (GRCm39)	V526A	possibly damaging	Het
Sel1l3	T	C	5: 53,280,771 (GRCm39)	E911G	probably damaging	Het
Serpinb6b	C	A	13: 33,162,125 (GRCm39)	A308E	probably benign	Het
Slc26a4	A	G	12: 31,572,523 (GRCm39)	V746A	probably benign	Het
Slc4a3	T	G	1: 75,527,957 (GRCm39)	M402R	probably damaging	Het
Slc9b1	A	T	3: 135,078,900 (GRCm39)	T186S	possibly damaging	Het
Slk	A	G	19: 47,608,712 (GRCm39)	Q555R	probably benign	Het
Stat5a	A	T	11: 100,774,764 (GRCm39)	T758S	unknown	Het
Sulf1	A	G	1: 12,906,499 (GRCm39)	S514G	probably benign	Het
Tcp11l1	T	A	2: 104,536,853 (GRCm39)	N4I	probably damaging	Het
Tex2	A	T	11: 106,402,731 (GRCm39)	I1047K	unknown	Het
Tmem184b	A	G	15: 79,261,264 (GRCm39)	V114A	possibly damaging	Het
Trmt11	A	G	10: 30,467,027 (GRCm39)	V95A	probably benign	Het
Trp53bp2	A	G	1: 182,268,433 (GRCm39)	D169G	possibly damaging	Het
Ttc41	T	A	10: 86,549,599 (GRCm39)	N264K	possibly damaging	Het
Uba2	A	C	7: 33,853,987 (GRCm39)	S318R	probably benign	Het
Wapl	T	A	14: 34,451,139 (GRCm39)	N724K	probably damaging	Het
Wfdc9	T	A	2: 164,493,671 (GRCm39)	I5F	probably damaging	Het
Zan	C	T	5: 137,406,563 (GRCm39)	D3686N	unknown	Het
Zfp618	A	T	4: 63,012,708 (GRCm39)	Y140F	probably benign	Het
Zfp790	A	G	7: 29,527,593 (GRCm39)	T93A	probably benign	Het
Zfp979	A	C	4: 147,697,984 (GRCm39)	F242V	probably benign	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
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
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'- TGGGGCAGGATTAGAGTACTTAC -3'
(R):5'- TGACAGGCAGTTATCATAGCTG -3'

Sequencing Primer
(F):5'- CCTTTTTGTTGCGATTTTAGGAATC -3'
(R):5'- GCTGTAAATTCAAGTATACCTCAGGC -3'

Posted On

2021-10-11