Incidental Mutation 'IGL00569:Smc5'
ID |
3222 |
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 # |
IGL00569
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
23183815-23251261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23213329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 528
(R528C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087556]
[ENSMUST00000223934]
[ENSMUST00000226111]
|
AlphaFold |
Q8CG46 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087556
AA Change: R528C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943 AA Change: R528C
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 damaging
Transcript: ENSMUST00000223934
AA Change: R528C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226111
AA Change: R452C
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
G |
11: 110,077,875 (GRCm39) |
N1311H |
possibly damaging |
Het |
Adrm1b |
T |
C |
3: 92,335,707 (GRCm39) |
T332A |
probably benign |
Het |
Apol8 |
C |
T |
15: 77,634,255 (GRCm39) |
R107H |
probably benign |
Het |
Cacna1a |
T |
A |
8: 85,189,343 (GRCm39) |
I98N |
probably damaging |
Het |
Clps |
T |
A |
17: 28,779,636 (GRCm39) |
|
probably benign |
Het |
Dcc |
T |
A |
18: 71,517,296 (GRCm39) |
|
probably null |
Het |
Dock10 |
A |
G |
1: 80,562,729 (GRCm39) |
F544L |
probably damaging |
Het |
Eif2ak2 |
A |
T |
17: 79,176,912 (GRCm39) |
S218T |
probably benign |
Het |
Faf1 |
T |
C |
4: 109,819,077 (GRCm39) |
*650Q |
probably null |
Het |
Fxn |
A |
T |
19: 24,244,714 (GRCm39) |
I142N |
probably damaging |
Het |
Gm10610 |
A |
T |
7: 83,198,778 (GRCm39) |
|
noncoding transcript |
Het |
Hspa1l |
C |
T |
17: 35,196,441 (GRCm39) |
T160I |
probably damaging |
Het |
Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
Khsrp |
T |
C |
17: 57,330,092 (GRCm39) |
T646A |
possibly damaging |
Het |
Lilra6 |
A |
G |
7: 3,917,588 (GRCm39) |
S136P |
probably damaging |
Het |
Lmo7 |
T |
G |
14: 102,124,487 (GRCm39) |
N315K |
probably damaging |
Het |
Map3k5 |
A |
G |
10: 19,810,790 (GRCm39) |
T147A |
possibly damaging |
Het |
Mical3 |
T |
C |
6: 120,938,585 (GRCm39) |
E1134G |
possibly damaging |
Het |
Nek3 |
A |
G |
8: 22,648,722 (GRCm39) |
L103P |
probably damaging |
Het |
Nudt17 |
G |
T |
3: 96,614,343 (GRCm39) |
P222Q |
probably damaging |
Het |
Pla2r1 |
G |
T |
2: 60,250,769 (GRCm39) |
T1386K |
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,738,872 (GRCm39) |
|
probably benign |
Het |
Rgl1 |
A |
C |
1: 152,447,368 (GRCm39) |
S134A |
probably benign |
Het |
Rnls |
T |
A |
19: 33,145,888 (GRCm39) |
E195V |
probably benign |
Het |
Sall4 |
T |
C |
2: 168,597,232 (GRCm39) |
N536S |
probably benign |
Het |
Serinc3 |
G |
T |
2: 163,469,921 (GRCm39) |
P309Q |
probably damaging |
Het |
Stxbp3-ps |
A |
T |
19: 9,535,186 (GRCm39) |
|
noncoding transcript |
Het |
Tmem67 |
T |
A |
4: 12,061,826 (GRCm39) |
I549L |
probably damaging |
Het |
Trank1 |
C |
A |
9: 111,174,579 (GRCm39) |
H269N |
possibly damaging |
Het |
Wdr87-ps |
A |
T |
7: 29,233,565 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Smc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
IGL02447:Smc5
|
APN |
19 |
23,234,856 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2012-04-20 |