Incidental Mutation 'IGL02216:Smc3'
| ID |
284882 |
| 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 # |
IGL02216
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
53588827-53634262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 53610275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 221
(R221C)
|
| 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 damaging
Transcript: ENSMUST00000025930
AA Change: R221C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: R221C
| 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 |
|
| 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 |
|---|
| 4930544D05Rik |
T |
C |
11: 70,507,005 (GRCm39) |
F48L |
possibly damaging |
Het |
| Adamts12 |
A |
G |
15: 11,241,571 (GRCm39) |
N381S |
possibly damaging |
Het |
| Akp3 |
A |
T |
1: 87,055,372 (GRCm39) |
Q473L |
probably damaging |
Het |
| Albfm1 |
T |
C |
5: 90,727,438 (GRCm39) |
|
probably benign |
Het |
| Ap5s1 |
T |
A |
2: 131,054,887 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,150,616 (GRCm39) |
L1438Q |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,539 (GRCm39) |
P233L |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cc2d1a |
C |
A |
8: 84,865,942 (GRCm39) |
E393* |
probably null |
Het |
| Cd209a |
G |
T |
8: 3,795,576 (GRCm39) |
T165N |
probably damaging |
Het |
| Chid1 |
T |
C |
7: 141,076,506 (GRCm39) |
|
probably benign |
Het |
| Cln3 |
A |
T |
7: 126,174,514 (GRCm39) |
|
probably null |
Het |
| Cped1 |
A |
T |
6: 22,059,944 (GRCm39) |
R203S |
probably damaging |
Het |
| Dele1 |
A |
T |
18: 38,385,913 (GRCm39) |
I102F |
probably damaging |
Het |
| Dnttip2 |
G |
T |
3: 122,069,910 (GRCm39) |
W375L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,629,436 (GRCm39) |
F4280S |
probably damaging |
Het |
| Ephb4 |
A |
G |
5: 137,370,332 (GRCm39) |
D844G |
possibly damaging |
Het |
| Fhl2 |
T |
A |
1: 43,170,879 (GRCm39) |
E145V |
probably null |
Het |
| Gne |
T |
C |
4: 44,044,761 (GRCm39) |
K458E |
probably benign |
Het |
| Grid2 |
G |
T |
6: 64,322,650 (GRCm39) |
R550L |
probably damaging |
Het |
| Klhl1 |
T |
A |
14: 96,360,658 (GRCm39) |
T731S |
probably benign |
Het |
| Kng1 |
T |
A |
16: 22,877,283 (GRCm39) |
D30E |
probably damaging |
Het |
| Kyat1 |
A |
G |
2: 30,077,264 (GRCm39) |
V158A |
probably benign |
Het |
| Mcm8 |
G |
T |
2: 132,681,449 (GRCm39) |
V642F |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,739,092 (GRCm39) |
H3638Y |
probably benign |
Het |
| Neb |
T |
G |
2: 52,116,502 (GRCm39) |
T4158P |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,824,336 (GRCm39) |
I697M |
probably damaging |
Het |
| Nfkb1 |
A |
T |
3: 135,300,724 (GRCm39) |
V614D |
probably damaging |
Het |
| Or7e169 |
G |
A |
9: 19,757,861 (GRCm39) |
S18L |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,950,892 (GRCm39) |
S2555P |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,784,897 (GRCm39) |
R1962S |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,929,918 (GRCm39) |
Y258C |
probably damaging |
Het |
| Pramel12 |
T |
A |
4: 143,144,298 (GRCm39) |
|
probably null |
Het |
| Prl3a1 |
A |
G |
13: 27,454,127 (GRCm39) |
D35G |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,473,726 (GRCm39) |
V472D |
possibly damaging |
Het |
| Rbpj-ps3 |
G |
A |
6: 46,506,641 (GRCm39) |
|
probably benign |
Het |
| Rnf112 |
C |
T |
11: 61,340,804 (GRCm39) |
V472M |
probably damaging |
Het |
| Rps18 |
A |
G |
17: 34,171,015 (GRCm39) |
|
probably benign |
Het |
| Rptn |
T |
C |
3: 93,303,080 (GRCm39) |
S138P |
possibly damaging |
Het |
| Sbpl |
A |
C |
17: 24,172,690 (GRCm39) |
N76K |
probably benign |
Het |
| Sh3bp1 |
A |
T |
15: 78,789,364 (GRCm39) |
M241L |
probably benign |
Het |
| Slc22a17 |
T |
C |
14: 55,145,433 (GRCm39) |
*198W |
probably null |
Het |
| Snai1 |
A |
G |
2: 167,380,768 (GRCm39) |
E87G |
probably benign |
Het |
| Snx22 |
C |
A |
9: 65,976,470 (GRCm39) |
A49S |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,268 (GRCm39) |
R33* |
probably null |
Het |
| Try4 |
A |
G |
6: 41,281,965 (GRCm39) |
I184V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,584,896 (GRCm39) |
K20355* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,622,069 (GRCm39) |
V15491A |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,948,237 (GRCm39) |
T293A |
probably benign |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,915 (GRCm39) |
T106A |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,661,817 (GRCm39) |
V666E |
probably damaging |
Het |
| Vsx1 |
T |
C |
2: 150,526,495 (GRCm39) |
N221S |
possibly damaging |
Het |
| Zfp846 |
A |
G |
9: 20,499,905 (GRCm39) |
E45G |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation