Incidental Mutation 'R6611:Smc5'
ID |
523620 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc5
|
Ensembl Gene |
ENSMUSG00000024943 |
Gene Name |
structural maintenance of chromosomes 5 |
Synonyms |
Smc5l1 |
MMRRC Submission |
044734-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6611 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
23183815-23251261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23206283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 681
(V681A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087556]
[ENSMUST00000223934]
[ENSMUST00000226111]
|
AlphaFold |
Q8CG46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087556
AA Change: V757A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943 AA Change: V757A
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: V757A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226111
AA Change: V681A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
A |
T |
6: 40,943,713 (GRCm39) |
T126S |
probably benign |
Het |
Bex6 |
A |
G |
16: 32,005,483 (GRCm39) |
K97R |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,459,658 (GRCm39) |
L311P |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cdc16 |
C |
A |
8: 13,831,512 (GRCm39) |
P582T |
probably benign |
Het |
Cep112 |
T |
C |
11: 108,397,377 (GRCm39) |
I280T |
possibly damaging |
Het |
Cfhr4 |
A |
G |
1: 139,660,128 (GRCm39) |
Y666H |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,143,313 (GRCm39) |
F527L |
probably damaging |
Het |
Drc3 |
G |
T |
11: 60,255,773 (GRCm39) |
R120L |
probably damaging |
Het |
Efcab6 |
T |
A |
15: 83,777,036 (GRCm39) |
R1133S |
possibly damaging |
Het |
Fer1l5 |
T |
C |
1: 36,445,735 (GRCm39) |
V834A |
probably benign |
Het |
Flnb |
A |
G |
14: 7,915,318 (GRCm38) |
Y1483C |
probably damaging |
Het |
Fstl4 |
A |
T |
11: 53,077,552 (GRCm39) |
M770L |
probably benign |
Het |
Gm10428 |
A |
T |
11: 62,644,115 (GRCm39) |
|
probably benign |
Het |
Hmbs |
C |
A |
9: 44,252,988 (GRCm39) |
R15L |
probably damaging |
Het |
Irx3 |
T |
C |
8: 92,526,631 (GRCm39) |
T358A |
probably damaging |
Het |
Kmt2a |
T |
A |
9: 44,760,569 (GRCm39) |
I460L |
probably damaging |
Het |
Mob2 |
G |
T |
7: 141,563,293 (GRCm39) |
F55L |
probably damaging |
Het |
Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
Ntrk2 |
T |
C |
13: 59,202,228 (GRCm39) |
L612P |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,955,056 (GRCm39) |
|
probably null |
Het |
Or4d5 |
T |
C |
9: 40,012,316 (GRCm39) |
I157V |
probably benign |
Het |
Or5j1 |
A |
T |
2: 86,879,577 (GRCm39) |
M1K |
probably null |
Het |
Or8b44 |
A |
T |
9: 38,410,534 (GRCm39) |
T190S |
probably damaging |
Het |
Oxct2a |
T |
C |
4: 123,216,640 (GRCm39) |
E247G |
probably damaging |
Het |
Phykpl |
G |
T |
11: 51,489,181 (GRCm39) |
A336S |
probably damaging |
Het |
Pik3r4 |
T |
G |
9: 105,521,476 (GRCm39) |
L14R |
probably damaging |
Het |
Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
Pramel7 |
A |
G |
2: 87,320,393 (GRCm39) |
I300T |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,780,140 (GRCm39) |
C132G |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Slc9a9 |
G |
T |
9: 94,821,531 (GRCm39) |
R306L |
probably benign |
Het |
Snap91 |
C |
T |
9: 86,672,180 (GRCm39) |
S646N |
probably benign |
Het |
Ssh3 |
T |
C |
19: 4,314,450 (GRCm39) |
N368S |
probably damaging |
Het |
Syne1 |
A |
T |
10: 4,995,273 (GRCm39) |
N8326K |
probably benign |
Het |
Traf3 |
T |
G |
12: 111,204,074 (GRCm39) |
L21R |
possibly damaging |
Het |
Ubxn11 |
C |
A |
4: 133,850,910 (GRCm39) |
T254K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGTGATTGACATCTCCATCAAATGG -3'
(R):5'- ACCTAAGGCTTTGGACTCGG -3'
Sequencing Primer
(F):5'- CAGTAACAAGATCTGGCATCTCTGG -3'
(R):5'- GACTCGGTCCTTTGTTTAGCTCTG -3'
|
Posted On |
2018-06-22 |