Incidental Mutation 'R6801:Smc5'
ID |
533359 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc5
|
Ensembl Gene |
ENSMUSG00000024943 |
Gene Name |
structural maintenance of chromosomes 5 |
Synonyms |
Smc5l1 |
MMRRC Submission |
044914-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6801 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
23183815-23251261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23192010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 888
(S888L)
|
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: S888L
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943 AA Change: S888L
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: S873L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226111
AA Change: S797L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
Validation Efficiency |
100% (49/49) |
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 |
Adam3 |
T |
A |
8: 25,174,680 (GRCm39) |
Y695F |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,759,892 (GRCm39) |
D545G |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,643,159 (GRCm39) |
E1457G |
possibly damaging |
Het |
Atp2b4 |
T |
A |
1: 133,655,524 (GRCm39) |
I747F |
probably damaging |
Het |
Bche |
T |
A |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
C2cd6 |
TC |
T |
1: 59,133,742 (GRCm39) |
|
probably null |
Het |
Ccdc90b |
A |
G |
7: 92,216,943 (GRCm39) |
T72A |
probably benign |
Het |
Chrd |
A |
G |
16: 20,554,497 (GRCm39) |
E352G |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,277,743 (GRCm39) |
E953G |
probably benign |
Het |
Dchs2 |
T |
A |
3: 83,035,841 (GRCm39) |
M196K |
probably benign |
Het |
Ddx10 |
G |
A |
9: 53,159,207 (GRCm39) |
Q33* |
probably null |
Het |
Dennd4b |
T |
A |
3: 90,176,086 (GRCm39) |
V201E |
probably damaging |
Het |
Fbn2 |
T |
A |
18: 58,246,420 (GRCm39) |
H494L |
probably benign |
Het |
Fbxw13 |
G |
A |
9: 109,023,795 (GRCm39) |
A83V |
probably null |
Het |
Fxr1 |
A |
G |
3: 34,108,452 (GRCm39) |
D321G |
possibly damaging |
Het |
Galm |
A |
G |
17: 80,489,053 (GRCm39) |
H233R |
probably benign |
Het |
Gm7298 |
A |
G |
6: 121,752,768 (GRCm39) |
T837A |
probably benign |
Het |
Gmppa |
C |
G |
1: 75,418,391 (GRCm39) |
S258C |
possibly damaging |
Het |
Hk1 |
T |
G |
10: 62,116,910 (GRCm39) |
E645A |
probably damaging |
Het |
Igkv1-132 |
A |
G |
6: 67,737,324 (GRCm39) |
T97A |
probably damaging |
Het |
Kcnc1 |
T |
C |
7: 46,084,716 (GRCm39) |
F547L |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lingo2 |
T |
A |
4: 35,709,566 (GRCm39) |
E138V |
probably damaging |
Het |
Myb |
T |
C |
10: 21,020,865 (GRCm39) |
|
probably null |
Het |
Mybl1 |
A |
G |
1: 9,753,353 (GRCm39) |
V243A |
probably benign |
Het |
Mylk4 |
C |
T |
13: 32,912,393 (GRCm39) |
S189N |
probably benign |
Het |
Or13c7 |
T |
A |
4: 43,855,206 (GRCm39) |
L299* |
probably null |
Het |
Or2y16 |
A |
G |
11: 49,335,169 (GRCm39) |
M164V |
probably benign |
Het |
Or4k77 |
A |
T |
2: 111,199,394 (GRCm39) |
Q139L |
probably benign |
Het |
Or4x12-ps1 |
A |
T |
2: 89,915,953 (GRCm39) |
I284N |
probably damaging |
Het |
Or5w1b |
A |
G |
2: 87,475,667 (GRCm39) |
Y267H |
probably benign |
Het |
Or8g19 |
A |
T |
9: 39,055,506 (GRCm39) |
I37F |
probably benign |
Het |
Oxld1 |
A |
T |
11: 120,347,650 (GRCm39) |
D182E |
probably damaging |
Het |
Phf13 |
A |
T |
4: 152,076,017 (GRCm39) |
L295Q |
probably damaging |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Prss33 |
A |
G |
17: 24,053,813 (GRCm39) |
L88P |
possibly damaging |
Het |
Ralgds |
A |
G |
2: 28,438,448 (GRCm39) |
Y596C |
probably damaging |
Het |
Rftn2 |
A |
G |
1: 55,233,418 (GRCm39) |
I379T |
possibly damaging |
Het |
Rnf214 |
C |
T |
9: 45,807,403 (GRCm39) |
E267K |
probably damaging |
Het |
Rpp14 |
T |
C |
14: 8,083,717 (GRCm38) |
|
probably benign |
Het |
Rpusd2 |
A |
G |
2: 118,865,876 (GRCm39) |
Y191C |
probably damaging |
Het |
Serpinb9c |
T |
A |
13: 33,341,807 (GRCm39) |
M1L |
probably benign |
Het |
Shroom3 |
A |
G |
5: 93,088,795 (GRCm39) |
D434G |
probably damaging |
Het |
Suv39h2 |
C |
T |
2: 3,465,458 (GRCm39) |
R299K |
probably benign |
Het |
Trappc4 |
A |
T |
9: 44,315,685 (GRCm39) |
I176N |
probably damaging |
Het |
Trim12c |
A |
T |
7: 103,997,337 (GRCm39) |
V73E |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly 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 |
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'- GCCTAGCTTATTATTACCCAGAGC -3'
(R):5'- TGCCTTAAGGGACTATCCAACATG -3'
Sequencing Primer
(F):5'- AGCTTATTATTACCCAGAGCTCCAG -3'
(R):5'- AGGGACTATCCAACATGTATACATC -3'
|
Posted On |
2018-09-12 |