Incidental Mutation 'R0940:Smc3'
| ID |
81473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc3
|
| Ensembl Gene |
ENSMUSG00000024974 |
| Gene Name |
structural maintenance of chromosomes 3 |
| Synonyms |
Cspg6, Bamacan, Mmip1, SmcD |
| MMRRC Submission |
039079-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0940 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
53588827-53634262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53629340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 931
(M931K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025930]
|
| AlphaFold |
Q9CW03 |
| PDB Structure |
SMC hinge heterodimer (Mouse) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025930
AA Change: M931K
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: M931K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_23
|
5 |
359 |
5.4e-10 |
PFAM |
|
SMC_hinge
|
530 |
643 |
1.85e-23 |
SMART |
|
low complexity region
|
684 |
711 |
N/A |
INTRINSIC |
|
Blast:SMC_hinge
|
712 |
804 |
3e-49 |
BLAST |
|
low complexity region
|
805 |
818 |
N/A |
INTRINSIC |
|
Blast:SMC_hinge
|
819 |
870 |
3e-23 |
BLAST |
|
Blast:INB
|
898 |
1174 |
2e-52 |
BLAST |
|
PDB:1XEW|Y
|
1032 |
1212 |
6e-30 |
PDB |
|
SCOP:d1e69a_
|
1114 |
1193 |
2e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171083
|
| Meta Mutation Damage Score |
0.1237 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
| 2610021A01Rik |
T |
G |
7: 41,275,858 (GRCm39) |
I520M |
probably damaging |
Het |
| Ackr4 |
A |
G |
9: 103,976,831 (GRCm39) |
F39L |
probably damaging |
Het |
| Adgre5 |
C |
T |
8: 84,460,126 (GRCm39) |
S92N |
probably damaging |
Het |
| Adrb2 |
T |
C |
18: 62,312,762 (GRCm39) |
D21G |
probably benign |
Het |
| Akr1c6 |
G |
A |
13: 4,486,372 (GRCm39) |
E60K |
probably benign |
Het |
| Bcl7c |
T |
A |
7: 127,306,503 (GRCm39) |
N96I |
possibly damaging |
Het |
| Brca1 |
A |
T |
11: 101,422,969 (GRCm39) |
S106R |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,764,717 (GRCm39) |
T138S |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,300,564 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,022,217 (GRCm39) |
M3939K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,681,626 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
T |
G |
18: 20,183,116 (GRCm39) |
T101P |
probably damaging |
Het |
| Dynlt1b |
T |
C |
17: 6,697,649 (GRCm39) |
|
probably benign |
Het |
| E330013P04Rik |
A |
G |
19: 60,150,354 (GRCm39) |
|
noncoding transcript |
Het |
| Fggy |
A |
G |
4: 95,585,238 (GRCm39) |
E39G |
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,572,797 (GRCm39) |
V952A |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,753,795 (GRCm39) |
C116S |
probably benign |
Het |
| Gadd45a |
A |
G |
6: 67,013,813 (GRCm39) |
I44T |
possibly damaging |
Het |
| Gmps |
A |
G |
3: 63,883,743 (GRCm39) |
|
probably benign |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Hnrnpm |
G |
A |
17: 33,868,976 (GRCm39) |
R523C |
probably damaging |
Het |
| Inpp5a |
T |
C |
7: 139,105,654 (GRCm39) |
Y202H |
probably damaging |
Het |
| Kank3 |
C |
T |
17: 34,036,450 (GRCm39) |
S106F |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,305,658 (GRCm39) |
D253G |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,613,284 (GRCm39) |
I803F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,500,129 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,133,689 (GRCm39) |
N243Y |
probably damaging |
Het |
| Myorg |
A |
G |
4: 41,497,996 (GRCm39) |
Y545H |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,679,110 (GRCm39) |
M759I |
probably benign |
Het |
| Nipal4 |
A |
G |
11: 46,041,139 (GRCm39) |
I352T |
possibly damaging |
Het |
| Nomo1 |
A |
G |
7: 45,683,329 (GRCm39) |
E25G |
possibly damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,020 (GRCm39) |
S255P |
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,903,065 (GRCm39) |
I151T |
probably benign |
Het |
| Or14j7 |
A |
G |
17: 38,234,591 (GRCm39) |
I45V |
probably damaging |
Het |
| Or1e32 |
T |
C |
11: 73,705,050 (GRCm39) |
N286S |
probably damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,419 (GRCm39) |
I146L |
probably benign |
Het |
| Or5p66 |
T |
C |
7: 107,886,264 (GRCm39) |
D23G |
probably benign |
Het |
| Pabpn1l |
A |
G |
8: 123,349,183 (GRCm39) |
V78A |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,568,203 (GRCm39) |
I327N |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,834,768 (GRCm39) |
|
probably benign |
Het |
| Pkm |
C |
T |
9: 59,575,818 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,482,863 (GRCm39) |
V1519I |
probably benign |
Het |
| Ppp2cb |
T |
C |
8: 34,105,689 (GRCm39) |
|
probably null |
Het |
| Prickle2 |
A |
G |
6: 92,387,984 (GRCm39) |
Y473H |
probably benign |
Het |
| Prpf3 |
A |
G |
3: 95,751,535 (GRCm39) |
W389R |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,765,264 (GRCm39) |
E544K |
possibly damaging |
Het |
| Relb |
A |
T |
7: 19,345,767 (GRCm39) |
D395E |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,307,389 (GRCm39) |
N683S |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,964,596 (GRCm39) |
C102R |
probably benign |
Het |
| Sel1l3 |
C |
T |
5: 53,301,379 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,878,887 (GRCm39) |
T458A |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 46,249,539 (GRCm39) |
V795A |
probably benign |
Het |
| Tgm3 |
A |
G |
2: 129,854,326 (GRCm39) |
S2G |
probably benign |
Het |
| Tpbpa |
T |
C |
13: 61,087,867 (GRCm39) |
T75A |
probably damaging |
Het |
| Trub1 |
A |
G |
19: 57,473,495 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,328,604 (GRCm39) |
|
probably null |
Het |
| Ugt2a3 |
A |
G |
5: 87,475,065 (GRCm39) |
V393A |
possibly damaging |
Het |
| Vav3 |
T |
A |
3: 109,470,151 (GRCm39) |
M532K |
possibly damaging |
Het |
| Zfp616 |
A |
T |
11: 73,975,850 (GRCm39) |
K706N |
probably damaging |
Het |
| Zkscan1 |
T |
C |
5: 138,091,432 (GRCm39) |
F55S |
probably damaging |
Het |
|
| Other mutations in Smc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Smc3
|
APN |
19 |
53,617,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01300:Smc3
|
APN |
19 |
53,630,283 (GRCm39) |
splice site |
probably benign |
|
|
IGL02136:Smc3
|
APN |
19 |
53,624,147 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02216:Smc3
|
APN |
19 |
53,610,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02473:Smc3
|
APN |
19 |
53,624,879 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02797:Smc3
|
APN |
19 |
53,627,189 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02959:Smc3
|
APN |
19 |
53,611,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03343:Smc3
|
APN |
19 |
53,602,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bits
|
UTSW |
19 |
53,611,649 (GRCm39) |
critical splice donor site |
probably null |
|
|
Pieces
|
UTSW |
19 |
53,617,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Smithereens
|
UTSW |
19 |
53,630,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Smc3
|
UTSW |
19 |
53,589,993 (GRCm39) |
splice site |
probably benign |
|
|
R1248:Smc3
|
UTSW |
19 |
53,622,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1661:Smc3
|
UTSW |
19 |
53,613,496 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1779:Smc3
|
UTSW |
19 |
53,627,800 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2046:Smc3
|
UTSW |
19 |
53,627,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2073:Smc3
|
UTSW |
19 |
53,619,964 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2074:Smc3
|
UTSW |
19 |
53,619,964 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3077:Smc3
|
UTSW |
19 |
53,616,322 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4962:Smc3
|
UTSW |
19 |
53,619,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5684:Smc3
|
UTSW |
19 |
53,629,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6020:Smc3
|
UTSW |
19 |
53,613,594 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6169:Smc3
|
UTSW |
19 |
53,622,517 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6221:Smc3
|
UTSW |
19 |
53,630,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Smc3
|
UTSW |
19 |
53,616,162 (GRCm39) |
splice site |
probably null |
|
|
R6960:Smc3
|
UTSW |
19 |
53,617,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7048:Smc3
|
UTSW |
19 |
53,617,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7148:Smc3
|
UTSW |
19 |
53,630,326 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7157:Smc3
|
UTSW |
19 |
53,630,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7805:Smc3
|
UTSW |
19 |
53,629,390 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7968:Smc3
|
UTSW |
19 |
53,611,649 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8066:Smc3
|
UTSW |
19 |
53,603,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8202:Smc3
|
UTSW |
19 |
53,617,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8472:Smc3
|
UTSW |
19 |
53,617,142 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8683:Smc3
|
UTSW |
19 |
53,629,616 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8827:Smc3
|
UTSW |
19 |
53,611,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9072:Smc3
|
UTSW |
19 |
53,617,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9073:Smc3
|
UTSW |
19 |
53,617,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9355:Smc3
|
UTSW |
19 |
53,622,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9428:Smc3
|
UTSW |
19 |
53,617,150 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
X0026:Smc3
|
UTSW |
19 |
53,613,551 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGTCCTTATCAGGCCATGCACCAG -3'
(R):5'- TTAAGACACTCACAGGCCACAGGGAG -3'
Sequencing Primer
(F):5'- GAAATGGGTCTTAATGCCCTTC -3'
(R):5'- GCCACAGGGAGTCTTGC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation