Incidental Mutation 'IGL03031:Smc2'
| ID |
408447 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smc2
|
| Ensembl Gene |
ENSMUSG00000028312 |
| Gene Name |
structural maintenance of chromosomes 2 |
| Synonyms |
5730502P04Rik, CAP-E, Fin16, Smc2l1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL03031
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
52439243-52488260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52449638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 207
(I207V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102915]
[ENSMUST00000117280]
[ENSMUST00000142227]
|
| AlphaFold |
Q8CG48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102915
AA Change: I207V
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099979
Gene: ENSMUSG00000028312
AA Change: I207V
| 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: I207V
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113940
Gene: ENSMUSG00000028312
AA Change: I207V
| 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 |
probably benign
Transcript: ENSMUST00000142227
AA Change: I207V
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114228
Gene: ENSMUSG00000028312
AA Change: I207V
| 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 |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,183 (GRCm39) |
D753G |
probably benign |
Het |
| Adat2 |
T |
C |
10: 13,432,590 (GRCm39) |
|
probably benign |
Het |
| Ahsa2 |
A |
G |
11: 23,440,426 (GRCm39) |
L275S |
probably benign |
Het |
| Arhgef38 |
C |
T |
3: 132,837,828 (GRCm39) |
D118N |
possibly damaging |
Het |
| Bicra |
A |
T |
7: 15,709,726 (GRCm39) |
H1097Q |
probably benign |
Het |
| C4b |
T |
C |
17: 34,950,104 (GRCm39) |
T1389A |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,535 (GRCm39) |
S194G |
probably benign |
Het |
| Chgb |
C |
A |
2: 132,635,434 (GRCm39) |
Q459K |
probably benign |
Het |
| Clvs1 |
G |
T |
4: 9,449,385 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,492,923 (GRCm39) |
G186R |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,553,975 (GRCm39) |
|
probably benign |
Het |
| Epsti1 |
G |
A |
14: 78,212,021 (GRCm39) |
R249K |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,952,025 (GRCm39) |
Y90* |
probably null |
Het |
| Gabrp |
T |
C |
11: 33,504,980 (GRCm39) |
R274G |
probably damaging |
Het |
| Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
| Hectd4 |
C |
T |
5: 121,486,857 (GRCm39) |
T3284M |
possibly damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,892,522 (GRCm39) |
M245T |
probably damaging |
Het |
| Lpar6 |
T |
C |
14: 73,476,882 (GRCm39) |
V281A |
possibly damaging |
Het |
| Med18 |
G |
T |
4: 132,186,924 (GRCm39) |
Q192K |
possibly damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,208,704 (GRCm39) |
V3A |
probably benign |
Het |
| Mpped2 |
G |
T |
2: 106,613,968 (GRCm39) |
|
probably benign |
Het |
| Ms4a10 |
A |
G |
19: 10,946,035 (GRCm39) |
V32A |
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,968,601 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,097,213 (GRCm39) |
Q422L |
possibly damaging |
Het |
| Myo3b |
A |
T |
2: 70,085,721 (GRCm39) |
Q819L |
possibly damaging |
Het |
| Ncoa1 |
G |
A |
12: 4,324,818 (GRCm39) |
T921I |
possibly damaging |
Het |
| Or10d4b |
A |
G |
9: 39,534,694 (GRCm39) |
I92V |
probably damaging |
Het |
| Or6c214 |
A |
G |
10: 129,591,238 (GRCm39) |
L27P |
possibly damaging |
Het |
| Or8c16 |
A |
C |
9: 38,130,361 (GRCm39) |
T81P |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,843,734 (GRCm39) |
S1742P |
probably benign |
Het |
| Plxdc2 |
G |
A |
2: 16,655,043 (GRCm39) |
|
probably null |
Het |
| Poc5 |
A |
G |
13: 96,538,123 (GRCm39) |
T263A |
probably benign |
Het |
| Prss41 |
T |
A |
17: 24,061,396 (GRCm39) |
I132F |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,707,195 (GRCm39) |
I329T |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,466,464 (GRCm39) |
|
probably null |
Het |
| Rnps1-ps |
T |
C |
6: 7,982,857 (GRCm39) |
|
noncoding transcript |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,411 (GRCm39) |
V882E |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,388,369 (GRCm39) |
S579P |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,996,249 (GRCm39) |
E776G |
probably damaging |
Het |
| Spata31e5 |
A |
G |
1: 28,817,664 (GRCm39) |
F123L |
probably benign |
Het |
| Spats2 |
A |
G |
15: 99,078,569 (GRCm39) |
T211A |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Syt11 |
A |
T |
3: 88,656,148 (GRCm39) |
M1K |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,225,585 (GRCm39) |
T757A |
possibly damaging |
Het |
| Tecta |
A |
C |
9: 42,256,789 (GRCm39) |
M1629R |
probably benign |
Het |
| Ufsp2 |
T |
A |
8: 46,437,137 (GRCm39) |
I101N |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,235,368 (GRCm39) |
C892S |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,874,361 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,208,381 (GRCm39) |
V167E |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,862,608 (GRCm39) |
L588P |
probably damaging |
Het |
| Zfyve1 |
T |
C |
12: 83,621,595 (GRCm39) |
T267A |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation