Incidental Mutation 'IGL01017:Smc3'
| ID |
54097 |
| 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 # |
IGL01017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
53588827-53634262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53617758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 585
(V585A)
|
| 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: V585A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: V585A
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
G |
A |
5: 88,607,218 (GRCm39) |
A29T |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,467 (GRCm39) |
K795R |
probably damaging |
Het |
| Atg3 |
T |
C |
16: 45,004,174 (GRCm39) |
|
probably null |
Het |
| Ccdc169 |
T |
C |
3: 55,078,739 (GRCm39) |
V200A |
possibly damaging |
Het |
| Cdr2l |
C |
A |
11: 115,283,564 (GRCm39) |
Q141K |
probably damaging |
Het |
| Cts3 |
T |
A |
13: 61,715,988 (GRCm39) |
I93F |
probably damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,171,287 (GRCm39) |
L372S |
probably damaging |
Het |
| Elovl5 |
T |
C |
9: 77,888,853 (GRCm39) |
I240T |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,510,186 (GRCm39) |
A728V |
possibly damaging |
Het |
| Fbln1 |
A |
G |
15: 85,128,390 (GRCm39) |
D529G |
possibly damaging |
Het |
| Flnb |
G |
T |
14: 7,917,390 (GRCm38) |
|
probably benign |
Het |
| Gm14401 |
A |
T |
2: 176,778,625 (GRCm39) |
H237L |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,956,443 (GRCm39) |
H1586Q |
probably damaging |
Het |
| Igkv12-98 |
T |
A |
6: 68,548,093 (GRCm39) |
L74* |
probably null |
Het |
| Iigp1c |
T |
A |
18: 60,378,508 (GRCm39) |
D14E |
possibly damaging |
Het |
| Ktn1 |
T |
C |
14: 47,946,335 (GRCm39) |
S917P |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,574,200 (GRCm39) |
|
probably null |
Het |
| Lamb1 |
A |
G |
12: 31,351,063 (GRCm39) |
D723G |
possibly damaging |
Het |
| Lrrc39 |
A |
T |
3: 116,364,500 (GRCm39) |
R130S |
probably benign |
Het |
| Mcm3 |
A |
C |
1: 20,875,039 (GRCm39) |
|
probably null |
Het |
| Muc19 |
T |
G |
15: 91,764,901 (GRCm39) |
|
noncoding transcript |
Het |
| Necap2 |
A |
G |
4: 140,794,879 (GRCm39) |
F266S |
probably damaging |
Het |
| Nfil3 |
C |
T |
13: 53,122,055 (GRCm39) |
G283D |
probably damaging |
Het |
| Nlrp4e |
A |
T |
7: 23,021,092 (GRCm39) |
K526N |
possibly damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,389 (GRCm39) |
T166A |
probably benign |
Het |
| Or4p7 |
T |
A |
2: 88,222,245 (GRCm39) |
V218E |
possibly damaging |
Het |
| Pelp1 |
G |
A |
11: 70,287,720 (GRCm39) |
R401W |
probably damaging |
Het |
| Phldb3 |
G |
T |
7: 24,328,295 (GRCm39) |
C613F |
probably damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,243,110 (GRCm39) |
Y93H |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,476 (GRCm39) |
E105G |
probably benign |
Het |
| Prb1a |
G |
T |
6: 132,184,194 (GRCm39) |
Q480K |
unknown |
Het |
| Ryr1 |
A |
T |
7: 28,781,968 (GRCm39) |
I2007N |
probably damaging |
Het |
| Scgb1b27 |
A |
G |
7: 33,721,228 (GRCm39) |
T39A |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,187 (GRCm39) |
D359G |
probably benign |
Het |
| Sgo2b |
G |
T |
8: 64,379,557 (GRCm39) |
R1092S |
probably benign |
Het |
| Sh3pxd2b |
C |
A |
11: 32,353,993 (GRCm39) |
S187* |
probably null |
Het |
| Slc11a1 |
T |
A |
1: 74,418,955 (GRCm39) |
L92H |
probably damaging |
Het |
| Sp6 |
A |
G |
11: 96,913,429 (GRCm39) |
|
probably benign |
Het |
| Spata16 |
A |
T |
3: 26,894,871 (GRCm39) |
I307F |
possibly damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,359 (GRCm39) |
H33L |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,912,782 (GRCm39) |
D1642E |
probably damaging |
Het |
| Ttc1 |
T |
C |
11: 43,621,320 (GRCm39) |
N287S |
probably damaging |
Het |
| Ttc9 |
G |
A |
12: 81,678,536 (GRCm39) |
V120I |
possibly damaging |
Het |
| Umps |
A |
G |
16: 33,787,272 (GRCm39) |
V27A |
probably damaging |
Het |
| Usp50 |
C |
A |
2: 126,551,334 (GRCm39) |
M48I |
probably damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,309 (GRCm39) |
C267S |
possibly damaging |
Het |
| Wee1 |
A |
T |
7: 109,725,055 (GRCm39) |
D275V |
possibly damaging |
Het |
| Zmym6 |
C |
T |
4: 126,982,152 (GRCm39) |
P63L |
probably benign |
Het |
|
| Other mutations in Smc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-28 |
Incidental Mutation