Incidental Mutation 'R8066:Smc3'
| ID |
620037 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
53588827-53634262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53603576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 57
(R57H)
|
| 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: R57H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: R57H
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
G |
11: 69,780,689 (GRCm39) |
V177A |
probably benign |
Het |
| Acsm2 |
C |
A |
7: 119,190,548 (GRCm39) |
T517K |
probably damaging |
Het |
| Adam29 |
T |
G |
8: 56,325,703 (GRCm39) |
L250F |
probably benign |
Het |
| Ankrd37 |
T |
C |
8: 46,450,726 (GRCm39) |
D135G |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,980 (GRCm39) |
T572A |
possibly damaging |
Het |
| Aspa |
T |
C |
11: 73,204,372 (GRCm39) |
K199E |
possibly damaging |
Het |
| Aurka |
A |
T |
2: 172,212,338 (GRCm39) |
I13K |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,361,283 (GRCm39) |
D446G |
unknown |
Het |
| Bcar3 |
A |
T |
3: 122,318,573 (GRCm39) |
I654F |
probably damaging |
Het |
| Ccdc188 |
A |
T |
16: 18,037,058 (GRCm39) |
N210Y |
probably damaging |
Het |
| Ccdc25 |
A |
T |
14: 66,083,751 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ccn5 |
G |
T |
2: 163,670,862 (GRCm39) |
C123F |
probably damaging |
Het |
| Cdc37 |
C |
T |
9: 21,054,437 (GRCm39) |
E63K |
probably benign |
Het |
| Chrm4 |
T |
A |
2: 91,758,042 (GRCm39) |
L150H |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,452,628 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
T |
A |
7: 110,633,104 (GRCm39) |
Y117* |
probably null |
Het |
| Cyp4f37 |
C |
A |
17: 32,854,047 (GRCm39) |
R499S |
probably benign |
Het |
| Egr4 |
T |
C |
6: 85,489,277 (GRCm39) |
Y261C |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,030,679 (GRCm39) |
C468S |
unknown |
Het |
| Gart |
T |
C |
16: 91,436,335 (GRCm39) |
N141D |
probably benign |
Het |
| Get4 |
G |
A |
5: 139,249,293 (GRCm39) |
V126M |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,263 (GRCm39) |
S370G |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,230,812 (GRCm39) |
K162R |
probably benign |
Het |
| Grpel1 |
A |
G |
5: 36,626,889 (GRCm39) |
D57G |
probably benign |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,361,744 (GRCm39) |
L1149P |
probably benign |
Het |
| Lmbrd2 |
G |
A |
15: 9,172,172 (GRCm39) |
R322Q |
probably benign |
Het |
| Lrrc59 |
T |
C |
11: 94,525,426 (GRCm39) |
L74P |
possibly damaging |
Het |
| Mcam |
G |
T |
9: 44,052,257 (GRCm39) |
K589N |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,342,562 (GRCm39) |
L813Q |
possibly damaging |
Het |
| Oga |
T |
C |
19: 45,760,291 (GRCm39) |
K289R |
probably damaging |
Het |
| Or10h1 |
T |
C |
17: 33,418,126 (GRCm39) |
F35L |
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,985,014 (GRCm39) |
C197S |
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,978,761 (GRCm39) |
V213I |
possibly damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,435 (GRCm39) |
I164L |
probably benign |
Het |
| Pck2 |
C |
A |
14: 55,781,858 (GRCm39) |
P251H |
probably benign |
Het |
| Phip |
A |
T |
9: 82,757,351 (GRCm39) |
I1607K |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,658,168 (GRCm39) |
T220A |
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,618,478 (GRCm39) |
Q686* |
probably null |
Het |
| Pnpla2 |
A |
G |
7: 141,039,581 (GRCm39) |
*487W |
probably null |
Het |
| Prdm14 |
C |
A |
1: 13,184,540 (GRCm39) |
G544C |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,452,218 (GRCm39) |
E45G |
possibly damaging |
Het |
| Psmb5 |
T |
C |
14: 54,851,698 (GRCm39) |
D249G |
probably benign |
Het |
| Pstpip1 |
A |
G |
9: 56,033,913 (GRCm39) |
I296V |
probably benign |
Het |
| S1pr3 |
T |
A |
13: 51,573,955 (GRCm39) |
*379R |
probably null |
Het |
| Spata31g1 |
C |
A |
4: 42,971,929 (GRCm39) |
Q421K |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,139,484 (GRCm39) |
H1268Q |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,120,804 (GRCm39) |
R155C |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,748,339 (GRCm39) |
F438L |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,113,650 (GRCm39) |
V999A |
probably benign |
Het |
| Tchp |
T |
A |
5: 114,847,472 (GRCm39) |
L97Q |
probably benign |
Het |
| Tex46 |
G |
A |
4: 136,340,265 (GRCm39) |
V117M |
probably benign |
Het |
| Tnnc2 |
T |
A |
2: 164,619,661 (GRCm39) |
I102F |
possibly damaging |
Het |
| Trbv5 |
T |
A |
6: 41,039,326 (GRCm39) |
C12S |
probably damaging |
Het |
| Trub2 |
T |
A |
2: 29,667,867 (GRCm39) |
T258S |
possibly damaging |
Het |
| Uba3 |
T |
A |
6: 97,178,882 (GRCm39) |
N87I |
probably damaging |
Het |
| Vmn1r160 |
A |
T |
7: 22,571,315 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn1r192 |
G |
T |
13: 22,371,565 (GRCm39) |
Y218* |
probably null |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,419 (GRCm39) |
M157V |
probably benign |
Het |
| Vps53 |
T |
C |
11: 76,027,133 (GRCm39) |
E127G |
probably damaging |
Het |
| Vsig10 |
G |
T |
5: 117,489,849 (GRCm39) |
E538D |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,796,095 (GRCm39) |
H188Q |
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 |
|
|
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 |
|
|
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'- GTACTGATGCATTGTCTACAGTC -3'
(R):5'- CCACCTCCTTTTAAGATAGGAGGAAC -3'
Sequencing Primer
(F):5'- GATGCATTGTCTACAGTCATTATGTG -3'
(R):5'- CTAAGAAAGGCCTGGGTGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation