Incidental Mutation 'IGL02797:Smc3'
| ID |
360015 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smc3
|
| Ensembl Gene |
ENSMUSG00000024974 |
| Gene Name |
structural maintenance of chromosomes 3 |
| Synonyms |
Cspg6, Bamacan, Mmip1, SmcD |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02797
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
53588827-53634262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53627189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 830
(T830A)
|
| 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: T830A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: T830A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,187,214 (GRCm39) |
M924T |
probably benign |
Het |
| Afg2a |
A |
G |
3: 37,512,465 (GRCm39) |
|
probably benign |
Het |
| B3gat2 |
A |
G |
1: 23,854,360 (GRCm39) |
Y218C |
probably damaging |
Het |
| Bcs1l |
T |
C |
1: 74,629,620 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
A |
9: 78,568,995 (GRCm39) |
I358N |
probably damaging |
Het |
| Cd276 |
T |
C |
9: 58,444,719 (GRCm39) |
D84G |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,412 (GRCm39) |
F549S |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,787,024 (GRCm39) |
N549S |
probably benign |
Het |
| Cma1 |
A |
G |
14: 56,181,271 (GRCm39) |
S32P |
possibly damaging |
Het |
| Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
| Ctps1 |
A |
T |
4: 120,420,021 (GRCm39) |
I131K |
probably benign |
Het |
| Cyp2w1 |
T |
C |
5: 139,342,628 (GRCm39) |
L441P |
probably damaging |
Het |
| Dnajc21 |
A |
G |
15: 10,461,441 (GRCm39) |
Y170H |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,761,164 (GRCm39) |
L648Q |
probably damaging |
Het |
| Eif3l |
T |
A |
15: 78,959,477 (GRCm39) |
D6E |
probably benign |
Het |
| Fam228a |
A |
T |
12: 4,781,484 (GRCm39) |
L125Q |
probably damaging |
Het |
| Foxa2 |
A |
G |
2: 147,886,045 (GRCm39) |
C263R |
possibly damaging |
Het |
| Gm17455 |
A |
G |
10: 60,239,107 (GRCm39) |
E124G |
possibly damaging |
Het |
| Gpc6 |
T |
G |
14: 117,163,394 (GRCm39) |
L16R |
probably damaging |
Het |
| Hdac9 |
A |
G |
12: 34,443,273 (GRCm39) |
|
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,845,679 (GRCm39) |
N400S |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,152,586 (GRCm39) |
|
probably null |
Het |
| Il12b |
A |
G |
11: 44,301,180 (GRCm39) |
|
probably null |
Het |
| Lama4 |
A |
G |
10: 38,932,920 (GRCm39) |
R599G |
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
| Mink1 |
C |
T |
11: 70,501,176 (GRCm39) |
P784S |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,366,921 (GRCm39) |
F513S |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,538,186 (GRCm39) |
D474V |
probably damaging |
Het |
| Nhsl3 |
C |
T |
4: 129,117,104 (GRCm39) |
R565H |
probably damaging |
Het |
| Nos2 |
T |
G |
11: 78,831,170 (GRCm39) |
F420V |
probably damaging |
Het |
| Or52ab2 |
A |
T |
7: 102,970,058 (GRCm39) |
I147L |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,904 (GRCm39) |
Y670C |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,944,899 (GRCm39) |
E65G |
probably damaging |
Het |
| Ppp1r10 |
T |
G |
17: 36,238,904 (GRCm39) |
|
probably null |
Het |
| Prag1 |
C |
T |
8: 36,606,655 (GRCm39) |
R799C |
probably damaging |
Het |
| Prb1c |
T |
A |
6: 132,340,008 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
C |
13: 63,681,421 (GRCm39) |
N485S |
probably benign |
Het |
| Rgsl1 |
T |
C |
1: 153,683,454 (GRCm39) |
T19A |
probably damaging |
Het |
| Sgpl1 |
A |
C |
10: 60,937,507 (GRCm39) |
S507A |
probably benign |
Het |
| Sgpp2 |
A |
G |
1: 78,393,819 (GRCm39) |
D274G |
probably benign |
Het |
| Skap1 |
A |
G |
11: 96,603,843 (GRCm39) |
D211G |
possibly damaging |
Het |
| Smpd2 |
G |
A |
10: 41,364,074 (GRCm39) |
T215I |
possibly damaging |
Het |
| Sntg2 |
T |
G |
12: 30,276,891 (GRCm39) |
Y387S |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,948,355 (GRCm39) |
D810A |
probably damaging |
Het |
| Spop |
T |
A |
11: 95,372,909 (GRCm39) |
I217N |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,934,345 (GRCm39) |
R120G |
possibly damaging |
Het |
| Stau1 |
A |
T |
2: 166,791,266 (GRCm39) |
*496R |
probably null |
Het |
| Tmeff2 |
C |
T |
1: 50,967,206 (GRCm39) |
R34C |
probably damaging |
Het |
| Treml2 |
C |
T |
17: 48,609,739 (GRCm39) |
A57V |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,445,250 (GRCm39) |
D58G |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,666 (GRCm39) |
I721M |
possibly damaging |
Het |
| Vmn2r70 |
C |
A |
7: 85,208,295 (GRCm39) |
M727I |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,162,702 (GRCm39) |
C161S |
probably benign |
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 |
|
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 |
|
|
R0940:Smc3
|
UTSW |
19 |
53,629,340 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation