Incidental Mutation 'R8255:Smc5'
ID |
640630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc5
|
Ensembl Gene |
ENSMUSG00000024943 |
Gene Name |
structural maintenance of chromosomes 5 |
Synonyms |
Smc5l1 |
MMRRC Submission |
067681-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8255 (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 23186290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 1056
(F1056I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087556]
|
AlphaFold |
Q8CG46 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943 AA Change: F1056I
Domain | Start | End | E-Value | Type |
Pfam:SMC_N
|
52 |
1057 |
9.2e-19 |
PFAM |
Pfam:AAA_23
|
55 |
456 |
1.2e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (46/46) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,415,850 (GRCm39) |
T648S |
possibly damaging |
Het |
Abca12 |
T |
A |
1: 71,359,058 (GRCm39) |
I583F |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,948,926 (GRCm39) |
M1732L |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,740,398 (GRCm39) |
S1742P |
unknown |
Het |
Birc6 |
G |
A |
17: 74,969,775 (GRCm39) |
A4273T |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,463,880 (GRCm39) |
T1450A |
probably damaging |
Het |
Dhx32 |
T |
C |
7: 133,339,120 (GRCm39) |
N305S |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,698,589 (GRCm39) |
S2174P |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,161,101 (GRCm39) |
I3210F |
probably benign |
Het |
Gm12888 |
A |
G |
4: 121,181,994 (GRCm39) |
S33P |
probably damaging |
Het |
Gpaa1 |
T |
C |
15: 76,217,438 (GRCm39) |
L292P |
probably damaging |
Het |
Gzmg |
T |
A |
14: 56,395,753 (GRCm39) |
R69W |
probably damaging |
Het |
Hat1 |
A |
G |
2: 71,239,347 (GRCm39) |
D40G |
probably damaging |
Het |
Hcrtr2 |
T |
A |
9: 76,140,203 (GRCm39) |
I362F |
probably damaging |
Het |
Hmmr |
T |
C |
11: 40,598,262 (GRCm39) |
E650G |
probably damaging |
Het |
Ifi35 |
A |
T |
11: 101,348,608 (GRCm39) |
M180L |
probably benign |
Het |
Ifi44 |
A |
T |
3: 151,451,619 (GRCm39) |
H162Q |
probably benign |
Het |
Il1rl2 |
T |
C |
1: 40,404,471 (GRCm39) |
F531L |
probably damaging |
Het |
Ipcef1 |
T |
G |
10: 6,870,007 (GRCm39) |
K182T |
probably benign |
Het |
Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
Med31 |
G |
A |
11: 72,106,294 (GRCm39) |
|
probably benign |
Het |
Moxd1 |
A |
G |
10: 24,099,700 (GRCm39) |
T67A |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,985,848 (GRCm39) |
E1266G |
probably damaging |
Het |
Nkx2-4 |
C |
A |
2: 146,925,924 (GRCm39) |
E313* |
probably null |
Het |
Nol6 |
G |
T |
4: 41,120,168 (GRCm39) |
R487S |
probably benign |
Het |
Or2v1 |
C |
A |
11: 49,025,307 (GRCm39) |
A96D |
probably benign |
Het |
Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
Or4k15c |
C |
T |
14: 50,321,329 (GRCm39) |
V270I |
noncoding transcript |
Het |
Or5p51 |
A |
G |
7: 107,444,368 (GRCm39) |
S191P |
probably damaging |
Het |
Rnf135 |
A |
G |
11: 80,084,713 (GRCm39) |
D162G |
probably benign |
Het |
Sdr42e1 |
G |
T |
8: 118,390,502 (GRCm39) |
N46K |
probably benign |
Het |
Skor2 |
T |
C |
18: 76,946,664 (GRCm39) |
S129P |
unknown |
Het |
Slc7a11 |
A |
T |
3: 50,382,177 (GRCm39) |
I190N |
probably damaging |
Het |
Son |
A |
T |
16: 91,461,824 (GRCm39) |
Q2243L |
unknown |
Het |
Sult1a1 |
T |
A |
7: 126,274,280 (GRCm39) |
I101F |
possibly damaging |
Het |
Sult3a2 |
T |
C |
10: 33,655,747 (GRCm39) |
I77M |
probably benign |
Het |
Tas1r1 |
A |
T |
4: 152,116,774 (GRCm39) |
S287T |
probably benign |
Het |
Thbs3 |
A |
C |
3: 89,132,565 (GRCm39) |
T836P |
probably benign |
Het |
Tlcd3b |
G |
A |
7: 126,423,275 (GRCm39) |
V6M |
probably benign |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tnfrsf8 |
A |
T |
4: 145,041,653 (GRCm39) |
M1K |
probably null |
Het |
Vmn1r121 |
T |
G |
7: 20,831,679 (GRCm39) |
N254H |
probably benign |
Het |
Vmn1r179 |
C |
T |
7: 23,628,436 (GRCm39) |
A209V |
probably benign |
Het |
Wdr31 |
A |
T |
4: 62,381,634 (GRCm39) |
S66T |
probably benign |
Het |
Zbtb18 |
T |
C |
1: 177,275,003 (GRCm39) |
V121A |
probably damaging |
Het |
Zfp30 |
T |
A |
7: 29,488,826 (GRCm39) |
M82K |
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,765,955 (GRCm39) |
Q1494R |
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 |
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 |
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'- CTTTTATTCACTTGAGCGAGCG -3'
(R):5'- TAAATAGAGAGGATTTCCGGGC -3'
Sequencing Primer
(F):5'- TTGAGCGAGCGACACATATAAAC -3'
(R):5'- TCAGTAATTAGGCCAGGCTTCAG -3'
|
Posted On |
2020-07-28 |