Incidental Mutation 'R5028:Smc2'
| ID |
391497 |
| 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 |
042619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R5028 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
52439243-52488260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52458447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 429
(E429D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102915]
[ENSMUST00000117280]
[ENSMUST00000142227]
|
| AlphaFold |
Q8CG48 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102915
AA Change: E429D
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099979
Gene: ENSMUSG00000028312
AA Change: E429D
| 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: E429D
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113940
Gene: ENSMUSG00000028312
AA Change: E429D
| 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 damaging
Transcript: ENSMUST00000142227
AA Change: E429D
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114228
Gene: ENSMUSG00000028312
AA Change: E429D
| 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 |
|
| Meta Mutation Damage Score |
0.0826 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
97% (62/64) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,104,356 (GRCm39) |
S777C |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,187,458 (GRCm39) |
|
probably null |
Het |
| Arhgap17 |
T |
A |
7: 122,893,896 (GRCm39) |
H508L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,803,709 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,624,435 (GRCm39) |
F961S |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,975 (GRCm39) |
P497Q |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,834,568 (GRCm39) |
S364P |
probably damaging |
Het |
| Ccdc150 |
C |
A |
1: 54,302,636 (GRCm39) |
D85E |
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,613,930 (GRCm39) |
Y291H |
probably benign |
Het |
| Comp |
A |
C |
8: 70,829,290 (GRCm39) |
N289T |
probably damaging |
Het |
| Cops3 |
T |
A |
11: 59,708,856 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
G |
A |
10: 43,874,208 (GRCm39) |
H967Y |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,039,090 (GRCm39) |
F2423I |
probably damaging |
Het |
| Dact1 |
C |
A |
12: 71,365,347 (GRCm39) |
C709* |
probably null |
Het |
| Dcxr |
T |
G |
11: 120,617,273 (GRCm39) |
Q90P |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,043,349 (GRCm39) |
Y494C |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,727 (GRCm39) |
E333G |
possibly damaging |
Het |
| Eml2 |
T |
C |
7: 18,913,372 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
A |
15: 99,178,682 (GRCm39) |
M215L |
probably damaging |
Het |
| Gm17078 |
T |
A |
14: 51,848,699 (GRCm39) |
R13W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,499,206 (GRCm39) |
F196S |
possibly damaging |
Het |
| Ier5 |
A |
G |
1: 154,974,849 (GRCm39) |
S110P |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,982,049 (GRCm39) |
I793F |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,646,176 (GRCm39) |
I643T |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,750,969 (GRCm39) |
L794Q |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,158,935 (GRCm39) |
M36L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,875,855 (GRCm39) |
L693Q |
probably damaging |
Het |
| Mup4 |
T |
A |
4: 59,958,124 (GRCm39) |
E148V |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,545,057 (GRCm39) |
N162S |
possibly damaging |
Het |
| Nlgn2 |
T |
C |
11: 69,718,563 (GRCm39) |
D339G |
probably benign |
Het |
| Nucks1 |
C |
T |
1: 131,855,840 (GRCm39) |
R90C |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,196 (GRCm39) |
V229A |
probably damaging |
Het |
| Or5an9 |
T |
A |
19: 12,187,518 (GRCm39) |
V196E |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,739,723 (GRCm39) |
D24V |
probably damaging |
Het |
| Prpf4b |
C |
T |
13: 35,083,958 (GRCm39) |
P909L |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,132,485 (GRCm39) |
K116* |
probably null |
Het |
| Ror1 |
A |
G |
4: 100,269,133 (GRCm39) |
T324A |
possibly damaging |
Het |
| Slc24a4 |
G |
A |
12: 102,230,629 (GRCm39) |
G505R |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,702 (GRCm39) |
I112T |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,314 (GRCm39) |
S69G |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,663,312 (GRCm39) |
D116G |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,985,246 (GRCm39) |
V154E |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,205 (GRCm39) |
W357* |
probably null |
Het |
| Tmem177 |
T |
A |
1: 119,838,419 (GRCm39) |
T87S |
probably benign |
Het |
| Treh |
A |
T |
9: 44,594,186 (GRCm39) |
E144V |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,764,124 (GRCm39) |
D243E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,365 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,530 (GRCm39) |
W248* |
probably null |
Het |
| Yap1 |
T |
C |
9: 8,001,690 (GRCm39) |
T99A |
probably benign |
Het |
| Zbtb8b |
C |
A |
4: 129,326,793 (GRCm39) |
C91F |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 72,668,498 (GRCm39) |
T442A |
possibly damaging |
Het |
| Zxdc |
G |
T |
6: 90,359,320 (GRCm39) |
G651C |
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 |
|
|
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'- TGGTATATGGTTAACTAGCTACGGAAG -3'
(R):5'- GTTTCTATGCATACAAACCTCCTAC -3'
Sequencing Primer
(F):5'- GTCATACTGTATGCTAAAGGCTAAC -3'
(R):5'- CTCCTACTAAAGATTTGACCCTAAGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation