Incidental Mutation 'R8473:Smc5'
ID |
657141 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc5
|
Ensembl Gene |
ENSMUSG00000024943 |
Gene Name |
structural maintenance of chromosomes 5 |
Synonyms |
Smc5l1 |
MMRRC Submission |
067917-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8473 (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 23221446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 361
(V361D)
|
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: V361D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943 AA Change: V361D
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: V361D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226111
AA Change: V285D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (33/33) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930583I09Rik |
T |
C |
17: 65,141,513 (GRCm39) |
D30G |
unknown |
Het |
Acad12 |
T |
C |
5: 121,745,538 (GRCm39) |
D251G |
probably damaging |
Het |
Adamts15 |
T |
A |
9: 30,816,085 (GRCm39) |
T625S |
probably damaging |
Het |
Atg13 |
A |
T |
2: 91,518,993 (GRCm39) |
L151M |
probably damaging |
Het |
Atp5f1a |
T |
C |
18: 77,867,625 (GRCm39) |
F250L |
probably damaging |
Het |
Blnk |
T |
C |
19: 40,940,854 (GRCm39) |
E183G |
possibly damaging |
Het |
Csf3 |
T |
C |
11: 98,592,928 (GRCm39) |
L97P |
probably damaging |
Het |
Derl2 |
A |
G |
11: 70,910,035 (GRCm39) |
Y10H |
probably damaging |
Het |
Dgkb |
A |
G |
12: 38,234,939 (GRCm39) |
N435D |
probably damaging |
Het |
Dpy19l2 |
C |
A |
9: 24,492,526 (GRCm39) |
V691L |
probably benign |
Het |
Exoc5 |
T |
C |
14: 49,256,860 (GRCm39) |
S509G |
probably null |
Het |
Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,777,336 (GRCm39) |
G121D |
probably damaging |
Het |
Gfm1 |
T |
C |
3: 67,361,051 (GRCm39) |
S458P |
possibly damaging |
Het |
Gm6882 |
A |
T |
7: 21,161,440 (GRCm39) |
Y143N |
probably damaging |
Het |
Grm5 |
T |
A |
7: 87,252,278 (GRCm39) |
M176K |
probably damaging |
Het |
Herc6 |
T |
A |
6: 57,624,099 (GRCm39) |
V623D |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,479,551 (GRCm39) |
P4638T |
possibly damaging |
Het |
Il27ra |
A |
G |
8: 84,768,735 (GRCm39) |
Y62H |
probably benign |
Het |
Kcnh8 |
A |
T |
17: 53,285,320 (GRCm39) |
S1097C |
probably benign |
Het |
Kif19a |
T |
G |
11: 114,678,377 (GRCm39) |
S677A |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,434,266 (GRCm39) |
T792A |
unknown |
Het |
Or8d4 |
T |
C |
9: 40,038,506 (GRCm39) |
I250M |
probably benign |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,852 (GRCm39) |
V674D |
probably benign |
Het |
Pik3r6 |
A |
G |
11: 68,417,207 (GRCm39) |
S50G |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,203,357 (GRCm39) |
T474A |
probably benign |
Het |
Rbbp6 |
T |
C |
7: 122,600,421 (GRCm39) |
|
probably benign |
Het |
Scaper |
T |
C |
9: 55,458,131 (GRCm39) |
Y880C |
probably damaging |
Het |
Stag1 |
T |
A |
9: 100,762,840 (GRCm39) |
H480Q |
probably damaging |
Het |
Tdpoz2 |
T |
C |
3: 93,559,153 (GRCm39) |
E273G |
probably damaging |
Het |
Tdpoz3 |
T |
A |
3: 93,733,870 (GRCm39) |
W182R |
possibly damaging |
Het |
Tmx4 |
T |
C |
2: 134,451,444 (GRCm39) |
T170A |
probably benign |
Het |
Vmn1r59 |
A |
T |
7: 5,457,064 (GRCm39) |
M232K |
possibly damaging |
Het |
Wdr20rt |
A |
G |
12: 65,273,380 (GRCm39) |
D180G |
probably damaging |
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 |
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 |
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'- TATCAATGATCTCGCCTTCACATA -3'
(R):5'- GACCCAGCCCCAGGTTTC -3'
Sequencing Primer
(F):5'- ACATAAGGCTTTCTCCTCCTG -3'
(R):5'- TCCAATAGCTGACTGTGAGC -3'
|
Posted On |
2021-01-18 |