Incidental Mutation 'R7666:Smc5'
ID |
591960 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc5
|
Ensembl Gene |
ENSMUSG00000024943 |
Gene Name |
structural maintenance of chromosomes 5 |
Synonyms |
Smc5l1 |
MMRRC Submission |
045705-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7666 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
23183815-23251261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 23206381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 724
(D724E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087556]
[ENSMUST00000223934]
[ENSMUST00000226111]
|
AlphaFold |
Q8CG46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087556
AA Change: D724E
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943 AA Change: D724E
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 |
possibly damaging
Transcript: ENSMUST00000223934
AA Change: D724E
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226111
AA Change: D648E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (57/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh4a1 |
G |
A |
4: 139,361,268 (GRCm39) |
V72M |
probably damaging |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atl3 |
T |
C |
19: 7,487,405 (GRCm39) |
S107P |
probably benign |
Het |
Brpf3 |
T |
C |
17: 29,029,546 (GRCm39) |
L502P |
possibly damaging |
Het |
C6 |
T |
A |
15: 4,818,987 (GRCm39) |
S440T |
probably damaging |
Het |
Car3 |
A |
G |
3: 14,935,124 (GRCm39) |
H177R |
probably benign |
Het |
Ccdc148 |
A |
G |
2: 58,824,512 (GRCm39) |
W310R |
probably damaging |
Het |
Cchcr1 |
C |
T |
17: 35,837,383 (GRCm39) |
T401I |
probably benign |
Het |
Cdk13 |
G |
A |
13: 17,947,161 (GRCm39) |
|
probably benign |
Het |
Celsr2 |
A |
G |
3: 108,305,904 (GRCm39) |
S2067P |
probably benign |
Het |
Chrng |
A |
T |
1: 87,137,175 (GRCm39) |
T278S |
probably benign |
Het |
Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
Clec14a |
T |
A |
12: 58,314,543 (GRCm39) |
T360S |
probably benign |
Het |
Cr2 |
A |
G |
1: 194,836,533 (GRCm39) |
Y877H |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,379,700 (GRCm39) |
L518* |
probably null |
Het |
Cyp2c38 |
A |
T |
19: 39,426,686 (GRCm39) |
V205D |
possibly damaging |
Het |
Dlg5 |
G |
A |
14: 24,207,867 (GRCm39) |
P1113L |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,586,456 (GRCm39) |
V1465E |
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,148,391 (GRCm39) |
C2619Y |
probably damaging |
Het |
Fbxl4 |
A |
G |
4: 22,376,869 (GRCm39) |
T102A |
probably benign |
Het |
Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
Gimap8 |
A |
C |
6: 48,636,089 (GRCm39) |
N618T |
probably damaging |
Het |
Gk5 |
T |
A |
9: 96,035,160 (GRCm39) |
F286L |
probably damaging |
Het |
Gucy2c |
G |
A |
6: 136,674,966 (GRCm39) |
S1039L |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,270,245 (GRCm39) |
P1161S |
probably damaging |
Het |
Hnrnpa2b1 |
A |
T |
6: 51,443,917 (GRCm39) |
V78E |
possibly damaging |
Het |
Ltbp3 |
C |
T |
19: 5,797,034 (GRCm39) |
S387L |
possibly damaging |
Het |
Mrpl48 |
A |
G |
7: 100,214,408 (GRCm39) |
V64A |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,469,723 (GRCm39) |
Y7284C |
probably damaging |
Het |
Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
Myh4 |
A |
T |
11: 67,147,107 (GRCm39) |
D1584V |
probably damaging |
Het |
Myl7 |
A |
G |
11: 5,847,140 (GRCm39) |
F138L |
possibly damaging |
Het |
Nek5 |
T |
C |
8: 22,580,533 (GRCm39) |
K395R |
probably benign |
Het |
Or10ak7 |
T |
A |
4: 118,791,461 (GRCm39) |
T195S |
probably damaging |
Het |
Or2t6 |
A |
T |
14: 14,176,075 (GRCm38) |
D2E |
probably benign |
Het |
Or5b12 |
A |
G |
19: 12,897,526 (GRCm39) |
L49P |
probably damaging |
Het |
Phf7 |
C |
T |
14: 30,962,311 (GRCm39) |
E165K |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,591,591 (GRCm39) |
Y1213C |
probably benign |
Het |
Ppp1r9a |
A |
T |
6: 5,143,238 (GRCm39) |
K1005N |
probably benign |
Het |
Ppp2r3d |
A |
T |
9: 124,440,873 (GRCm38) |
D8E |
probably damaging |
Het |
Pramel24 |
A |
T |
4: 143,455,085 (GRCm39) |
Y461F |
probably benign |
Het |
Ptprn2 |
C |
A |
12: 116,804,940 (GRCm39) |
R152S |
probably benign |
Het |
Snx30 |
T |
C |
4: 59,885,047 (GRCm39) |
V229A |
probably benign |
Het |
Spata31d1c |
A |
C |
13: 65,183,814 (GRCm39) |
N452T |
probably benign |
Het |
Tacc2 |
C |
T |
7: 130,318,544 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
C |
T |
6: 12,379,437 (GRCm39) |
D996N |
|
Het |
Tubb2b |
A |
G |
13: 34,312,118 (GRCm39) |
L225P |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,140,791 (GRCm39) |
T1237A |
possibly damaging |
Het |
Unc50 |
G |
A |
1: 37,470,496 (GRCm39) |
R40Q |
possibly damaging |
Het |
Usp31 |
T |
C |
7: 121,248,404 (GRCm39) |
E1013G |
possibly damaging |
Het |
Vwa5a |
A |
G |
9: 38,645,259 (GRCm39) |
D448G |
probably benign |
Het |
Wnt5a |
T |
C |
14: 28,240,329 (GRCm39) |
S160P |
possibly damaging |
Het |
Zfp618 |
T |
A |
4: 63,050,954 (GRCm39) |
Y578* |
probably null |
Het |
Zfp804a |
C |
T |
2: 82,089,404 (GRCm39) |
Q1078* |
probably null |
Het |
Zfp808 |
C |
T |
13: 62,319,225 (GRCm39) |
T131M |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGATGATTTCTCATAAAGTCCTCC -3'
(R):5'- GCTGGTCATATAGCTCCACAG -3'
Sequencing Primer
(F):5'- CTTACCTTTACAAGGCCTG -3'
(R):5'- AGCTCCACAGTATATTTTGATCCTG -3'
|
Posted On |
2019-11-12 |