Incidental Mutation 'R8202:Smc3'
ID |
635741 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc3
|
Ensembl Gene |
ENSMUSG00000024974 |
Gene Name |
structural maintenance of chromosomes 3 |
Synonyms |
Cspg6, Bamacan, Mmip1, SmcD |
MMRRC Submission |
067625-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8202 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
53588827-53634262 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53617123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 512
(I512T)
|
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 |
possibly damaging
Transcript: ENSMUST00000025930
AA Change: I512T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025930 Gene: ENSMUSG00000024974 AA Change: I512T
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 |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
100% (50/50) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
C |
T |
14: 35,817,057 (GRCm39) |
R36C |
probably benign |
Het |
B020011L13Rik |
A |
T |
1: 117,728,874 (GRCm39) |
H127L |
probably damaging |
Het |
B4galt4 |
A |
G |
16: 38,588,274 (GRCm39) |
Q306R |
probably benign |
Het |
Bckdha |
G |
A |
7: 25,329,738 (GRCm39) |
H431Y |
probably damaging |
Het |
Cacna1e |
T |
A |
1: 154,274,195 (GRCm39) |
M2256L |
probably benign |
Het |
Ccar1 |
A |
T |
10: 62,607,768 (GRCm39) |
F298L |
possibly damaging |
Het |
Ceacam3 |
G |
A |
7: 16,896,953 (GRCm39) |
A640T |
|
Het |
Cers3 |
A |
G |
7: 66,435,761 (GRCm39) |
D240G |
probably damaging |
Het |
Ces1d |
T |
C |
8: 93,919,495 (GRCm39) |
E99G |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,369,649 (GRCm39) |
V1609A |
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,502,486 (GRCm39) |
F1329S |
probably damaging |
Het |
Fry |
A |
G |
5: 150,355,202 (GRCm39) |
Q1825R |
probably damaging |
Het |
Guf1 |
C |
A |
5: 69,720,545 (GRCm39) |
A335E |
possibly damaging |
Het |
Heatr6 |
C |
A |
11: 83,650,234 (GRCm39) |
T230K |
possibly damaging |
Het |
Klhl11 |
G |
A |
11: 100,354,150 (GRCm39) |
S557L |
probably benign |
Het |
Map10 |
A |
G |
8: 126,397,647 (GRCm39) |
N347D |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,227,497 (GRCm39) |
I313V |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nmral1 |
G |
A |
16: 4,532,448 (GRCm39) |
T131M |
probably damaging |
Het |
Npr1 |
T |
A |
3: 90,368,731 (GRCm39) |
Y443F |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,480,765 (GRCm39) |
N163S |
possibly damaging |
Het |
Nufip1 |
A |
G |
14: 76,348,604 (GRCm39) |
I78V |
probably benign |
Het |
Oplah |
C |
T |
15: 76,186,669 (GRCm39) |
G670D |
probably benign |
Het |
Or51a24 |
A |
G |
7: 103,734,198 (GRCm39) |
S30P |
probably benign |
Het |
Or5j3 |
A |
T |
2: 86,128,968 (GRCm39) |
E269D |
probably benign |
Het |
Or6c69b |
T |
C |
10: 129,626,518 (GRCm39) |
*313W |
probably null |
Het |
Pcnx1 |
T |
G |
12: 81,941,821 (GRCm39) |
I73S |
probably benign |
Het |
Pigp |
A |
T |
16: 94,165,528 (GRCm39) |
N204K |
probably benign |
Het |
Prelid2 |
T |
A |
18: 42,065,802 (GRCm39) |
I78F |
possibly damaging |
Het |
Ptprb |
A |
G |
10: 116,189,750 (GRCm39) |
Y1516C |
probably damaging |
Het |
Rab31 |
T |
C |
17: 65,974,881 (GRCm39) |
E157G |
probably damaging |
Het |
Rars2 |
T |
C |
4: 34,656,180 (GRCm39) |
Y445H |
probably damaging |
Het |
Rnf220 |
T |
A |
4: 117,347,070 (GRCm39) |
H114L |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,790,457 (GRCm39) |
W1450R |
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,761,786 (GRCm39) |
Y69C |
probably benign |
Het |
Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
St3gal3 |
T |
A |
4: 117,964,868 (GRCm39) |
|
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 57,011,917 (GRCm39) |
F338L |
probably damaging |
Het |
Tgs1 |
G |
A |
4: 3,586,097 (GRCm39) |
A325T |
probably benign |
Het |
Tmem30a |
A |
T |
9: 79,681,494 (GRCm39) |
I261K |
probably damaging |
Het |
Trim3 |
A |
T |
7: 105,260,632 (GRCm39) |
H662Q |
possibly damaging |
Het |
Unc13c |
C |
T |
9: 73,643,844 (GRCm39) |
V1207M |
probably damaging |
Het |
Vmn1r91 |
A |
T |
7: 19,835,749 (GRCm39) |
I223F |
probably damaging |
Het |
Vmn2r33 |
A |
T |
7: 7,557,153 (GRCm39) |
C516S |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,851,328 (GRCm39) |
V2321A |
probably damaging |
Het |
Zan |
G |
T |
5: 137,387,589 (GRCm39) |
T4874K |
unknown |
Het |
Zfp677 |
T |
C |
17: 21,613,535 (GRCm39) |
L43S |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,642,760 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- GAACCCACAGTTATGCAAAATGTAG -3'
(R):5'- GCACCTGCTTCTTTACAAGAAAG -3'
Sequencing Primer
(F):5'- CCACAGTTATGCAAAATGTAGTTACC -3'
(R):5'- GAGGGTAATGGAAGACATATTGTTC -3'
|
Posted On |
2020-07-13 |