Incidental Mutation 'IGL02447:Smc5'
ID |
294028 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Smc5
|
Ensembl Gene |
ENSMUSG00000024943 |
Gene Name |
structural maintenance of chromosomes 5 |
Synonyms |
Smc5l1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02447
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
23183815-23251261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23234856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 326
(E326G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087556]
[ENSMUST00000223934]
[ENSMUST00000226111]
|
AlphaFold |
Q8CG46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087556
AA Change: E326G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943 AA Change: E326G
Domain | Start | End | E-Value | Type |
Pfam:SMC_N
|
52 |
1057 |
9.2e-19 |
PFAM |
Pfam:AAA_23
|
55 |
456 |
1.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223934
AA Change: E326G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226111
AA Change: E250G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous knockout in embryonic stem cells causes abnormal mitosis, increased apoptosis and a shift from pluripotency to differentiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
T |
A |
4: 144,401,269 (GRCm39) |
I72F |
probably benign |
Het |
Abhd18 |
T |
A |
3: 40,888,208 (GRCm39) |
F351I |
probably benign |
Het |
Agfg1 |
T |
A |
1: 82,859,944 (GRCm39) |
|
probably benign |
Het |
Antxr2 |
C |
T |
5: 98,178,267 (GRCm39) |
V48I |
possibly damaging |
Het |
Bcl9l |
T |
C |
9: 44,418,631 (GRCm39) |
M823T |
probably benign |
Het |
Card11 |
G |
A |
5: 140,892,679 (GRCm39) |
H129Y |
possibly damaging |
Het |
Ccr1 |
A |
T |
9: 123,763,753 (GRCm39) |
V259E |
probably benign |
Het |
Cdk13 |
G |
T |
13: 17,947,001 (GRCm39) |
P586T |
probably benign |
Het |
Cep295 |
C |
T |
9: 15,243,807 (GRCm39) |
V1502I |
probably damaging |
Het |
Csnk1g3 |
T |
C |
18: 54,028,942 (GRCm39) |
S32P |
probably benign |
Het |
Dpysl4 |
G |
A |
7: 138,678,516 (GRCm39) |
R492Q |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,127,949 (GRCm39) |
L78P |
probably damaging |
Het |
Gm7361 |
T |
C |
5: 26,462,853 (GRCm39) |
S32P |
probably benign |
Het |
Grip1 |
T |
A |
10: 119,855,976 (GRCm39) |
V234E |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,404,610 (GRCm39) |
I4477L |
possibly damaging |
Het |
Il18r1 |
G |
A |
1: 40,537,497 (GRCm39) |
|
probably null |
Het |
Itpkb |
A |
G |
1: 180,248,919 (GRCm39) |
|
probably benign |
Het |
Jag2 |
T |
C |
12: 112,876,232 (GRCm39) |
Y799C |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,277,014 (GRCm39) |
K857R |
probably damaging |
Het |
Kbtbd12 |
A |
T |
6: 88,595,676 (GRCm39) |
S51R |
probably damaging |
Het |
Kcnc2 |
T |
G |
10: 112,291,851 (GRCm39) |
D346E |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 191,907,224 (GRCm39) |
M92K |
possibly damaging |
Het |
Kcnk1 |
A |
G |
8: 126,751,819 (GRCm39) |
I142V |
probably damaging |
Het |
Lsm11 |
T |
C |
11: 45,828,191 (GRCm39) |
N196D |
probably damaging |
Het |
Mpeg1 |
G |
T |
19: 12,440,156 (GRCm39) |
C538F |
probably damaging |
Het |
Nrap |
G |
A |
19: 56,333,951 (GRCm39) |
Q969* |
probably null |
Het |
Nt5el |
A |
T |
13: 105,236,967 (GRCm39) |
S73C |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,204,511 (GRCm39) |
|
probably null |
Het |
Pdcd5 |
A |
G |
7: 35,342,110 (GRCm39) |
V166A |
possibly damaging |
Het |
Plcb2 |
A |
T |
2: 118,543,636 (GRCm39) |
I745N |
probably damaging |
Het |
Ptprt |
T |
C |
2: 162,120,027 (GRCm39) |
T147A |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,676,460 (GRCm39) |
D136V |
probably damaging |
Het |
Ripor3 |
G |
T |
2: 167,834,750 (GRCm39) |
T247N |
probably damaging |
Het |
Sgcd |
A |
C |
11: 46,870,082 (GRCm39) |
|
probably benign |
Het |
Slc26a6 |
T |
C |
9: 108,734,251 (GRCm39) |
Y211H |
probably benign |
Het |
Slc37a3 |
T |
A |
6: 39,314,129 (GRCm39) |
E494D |
probably benign |
Het |
Tctn2 |
T |
C |
5: 124,753,316 (GRCm39) |
|
noncoding transcript |
Het |
Tk2 |
T |
A |
8: 104,967,770 (GRCm39) |
N93I |
probably damaging |
Het |
Tmed6 |
A |
G |
8: 107,792,240 (GRCm39) |
F2L |
possibly damaging |
Het |
Tox3 |
A |
G |
8: 90,984,781 (GRCm39) |
|
probably benign |
Het |
Tspan9 |
T |
C |
6: 127,941,401 (GRCm39) |
Y237C |
probably benign |
Het |
Ubqlnl |
A |
G |
7: 103,797,856 (GRCm39) |
L547P |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,189,223 (GRCm39) |
D1421G |
probably damaging |
Het |
Unc80 |
T |
A |
1: 66,542,703 (GRCm39) |
I319K |
possibly damaging |
Het |
Vac14 |
A |
G |
8: 111,380,260 (GRCm39) |
D441G |
probably benign |
Het |
Vamp8 |
C |
T |
6: 72,365,316 (GRCm39) |
V5M |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 20,012,429 (GRCm39) |
H560Q |
probably benign |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zfp773 |
G |
T |
7: 7,139,655 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Smc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00569:Smc5
|
APN |
19 |
23,213,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01070:Smc5
|
APN |
19 |
23,208,965 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01315:Smc5
|
APN |
19 |
23,208,968 (GRCm39) |
missense |
probably benign |
|
IGL01879:Smc5
|
APN |
19 |
23,205,548 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01902:Smc5
|
APN |
19 |
23,237,132 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02016:Smc5
|
APN |
19 |
23,251,076 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02186:Smc5
|
APN |
19 |
23,209,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02383:Smc5
|
APN |
19 |
23,191,996 (GRCm39) |
splice site |
probably benign |
|
IGL02534:Smc5
|
APN |
19 |
23,205,536 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02834:Smc5
|
APN |
19 |
23,234,968 (GRCm39) |
missense |
probably benign |
0.30 |
IGL03290:Smc5
|
APN |
19 |
23,251,022 (GRCm39) |
missense |
probably benign |
0.19 |
R0722:Smc5
|
UTSW |
19 |
23,186,291 (GRCm39) |
missense |
probably damaging |
0.99 |
R0893:Smc5
|
UTSW |
19 |
23,241,017 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0970:Smc5
|
UTSW |
19 |
23,216,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R1281:Smc5
|
UTSW |
19 |
23,213,247 (GRCm39) |
missense |
probably benign |
|
R1368:Smc5
|
UTSW |
19 |
23,187,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R2092:Smc5
|
UTSW |
19 |
23,216,263 (GRCm39) |
missense |
probably benign |
|
R3721:Smc5
|
UTSW |
19 |
23,187,856 (GRCm39) |
missense |
probably benign |
0.21 |
R4382:Smc5
|
UTSW |
19 |
23,246,210 (GRCm39) |
missense |
probably benign |
0.39 |
R4735:Smc5
|
UTSW |
19 |
23,220,069 (GRCm39) |
missense |
probably benign |
|
R4936:Smc5
|
UTSW |
19 |
23,211,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R5306:Smc5
|
UTSW |
19 |
23,237,009 (GRCm39) |
critical splice donor site |
probably null |
|
R5754:Smc5
|
UTSW |
19 |
23,221,467 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6175:Smc5
|
UTSW |
19 |
23,191,534 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6313:Smc5
|
UTSW |
19 |
23,186,312 (GRCm39) |
nonsense |
probably null |
|
R6527:Smc5
|
UTSW |
19 |
23,205,554 (GRCm39) |
missense |
probably benign |
0.00 |
R6611:Smc5
|
UTSW |
19 |
23,206,283 (GRCm39) |
missense |
probably benign |
0.13 |
R6750:Smc5
|
UTSW |
19 |
23,220,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R6801:Smc5
|
UTSW |
19 |
23,192,010 (GRCm39) |
missense |
probably benign |
0.34 |
R6821:Smc5
|
UTSW |
19 |
23,220,151 (GRCm39) |
missense |
probably benign |
0.20 |
R7002:Smc5
|
UTSW |
19 |
23,209,247 (GRCm39) |
missense |
probably benign |
0.00 |
R7198:Smc5
|
UTSW |
19 |
23,237,064 (GRCm39) |
nonsense |
probably null |
|
R7386:Smc5
|
UTSW |
19 |
23,192,539 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7439:Smc5
|
UTSW |
19 |
23,220,064 (GRCm39) |
missense |
probably damaging |
0.97 |
R7596:Smc5
|
UTSW |
19 |
23,191,533 (GRCm39) |
missense |
probably damaging |
0.99 |
R7666:Smc5
|
UTSW |
19 |
23,206,381 (GRCm39) |
missense |
probably benign |
0.15 |
R7760:Smc5
|
UTSW |
19 |
23,213,254 (GRCm39) |
missense |
probably benign |
0.01 |
R7990:Smc5
|
UTSW |
19 |
23,213,246 (GRCm39) |
missense |
probably benign |
0.01 |
R8255:Smc5
|
UTSW |
19 |
23,186,290 (GRCm39) |
missense |
|
|
R8359:Smc5
|
UTSW |
19 |
23,211,443 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8473:Smc5
|
UTSW |
19 |
23,221,446 (GRCm39) |
missense |
probably benign |
0.02 |
R8711:Smc5
|
UTSW |
19 |
23,243,058 (GRCm39) |
missense |
probably damaging |
0.98 |
R8815:Smc5
|
UTSW |
19 |
23,221,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R8885:Smc5
|
UTSW |
19 |
23,191,234 (GRCm39) |
missense |
probably damaging |
0.99 |
R8940:Smc5
|
UTSW |
19 |
23,237,126 (GRCm39) |
missense |
probably benign |
0.00 |
R9642:Smc5
|
UTSW |
19 |
23,238,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |