Incidental Mutation 'R7990:Smc5'
ID |
651708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc5
|
Ensembl Gene |
ENSMUSG00000024943 |
Gene Name |
structural maintenance of chromosomes 5 |
Synonyms |
Smc5l1 |
MMRRC Submission |
046031-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7990 (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 23213246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 555
(N555K)
|
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: N555K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943 AA Change: N555K
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: N555K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226111
AA Change: N479K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (50/50) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
G |
A |
3: 89,970,549 (GRCm39) |
V28I |
probably damaging |
Het |
Abcd4 |
G |
T |
12: 84,651,162 (GRCm39) |
|
probably null |
Het |
Alg2 |
T |
C |
4: 47,472,308 (GRCm39) |
T167A |
probably damaging |
Het |
Asap1 |
T |
C |
15: 64,044,586 (GRCm39) |
|
probably null |
Het |
Atad5 |
T |
A |
11: 80,024,079 (GRCm39) |
C1730* |
probably null |
Het |
Atp8b1 |
T |
C |
18: 64,671,748 (GRCm39) |
T1092A |
possibly damaging |
Het |
C130050O18Rik |
A |
G |
5: 139,400,672 (GRCm39) |
T242A |
probably benign |
Het |
Ccdc88c |
A |
G |
12: 100,934,244 (GRCm39) |
V211A |
probably damaging |
Het |
Ccnl1 |
A |
G |
3: 65,854,314 (GRCm39) |
S436P |
possibly damaging |
Het |
Cgnl1 |
T |
C |
9: 71,632,547 (GRCm39) |
E268G |
probably damaging |
Het |
Clca4b |
T |
G |
3: 144,634,103 (GRCm39) |
D104A |
probably damaging |
Het |
Col6a3 |
T |
G |
1: 90,709,577 (GRCm39) |
K2480T |
unknown |
Het |
Cryba1 |
T |
C |
11: 77,614,411 (GRCm39) |
T21A |
possibly damaging |
Het |
Csn1s1 |
C |
T |
5: 87,827,912 (GRCm39) |
A259V |
possibly damaging |
Het |
Dap3 |
A |
C |
3: 88,835,814 (GRCm39) |
Y206* |
probably null |
Het |
Etnppl |
T |
C |
3: 130,424,308 (GRCm39) |
I360T |
possibly damaging |
Het |
Gal3st3 |
A |
T |
19: 5,352,617 (GRCm39) |
M15L |
probably benign |
Het |
Gdf5 |
A |
G |
2: 155,783,749 (GRCm39) |
V401A |
probably damaging |
Het |
Gm1110 |
A |
G |
9: 26,792,137 (GRCm39) |
S628P |
possibly damaging |
Het |
Gm9493 |
A |
T |
19: 23,597,397 (GRCm39) |
I98F |
possibly damaging |
Het |
Grin2a |
T |
C |
16: 9,397,040 (GRCm39) |
K1016E |
possibly damaging |
Het |
Hdac9 |
T |
C |
12: 34,265,452 (GRCm39) |
N850D |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,685,629 (GRCm39) |
L466I |
unknown |
Het |
Jkampl |
T |
C |
6: 73,446,528 (GRCm39) |
Y7C |
probably damaging |
Het |
Kcnj16 |
C |
A |
11: 110,915,886 (GRCm39) |
R183S |
probably damaging |
Het |
Kcnk2 |
A |
C |
1: 188,942,102 (GRCm39) |
L389R |
probably damaging |
Het |
Kdm4c |
A |
C |
4: 74,309,685 (GRCm39) |
K949N |
probably damaging |
Het |
Kif3b |
G |
A |
2: 153,159,383 (GRCm39) |
E395K |
probably benign |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Map3k1 |
A |
T |
13: 111,892,696 (GRCm39) |
M853K |
probably benign |
Het |
Metap1 |
T |
G |
3: 138,186,526 (GRCm39) |
T68P |
probably benign |
Het |
Mfsd11 |
T |
C |
11: 116,750,323 (GRCm39) |
V114A |
possibly damaging |
Het |
Mroh1 |
G |
A |
15: 76,336,475 (GRCm39) |
R1566H |
probably damaging |
Het |
Msh4 |
A |
T |
3: 153,602,529 (GRCm39) |
M233K |
probably damaging |
Het |
Ncor1 |
T |
G |
11: 62,240,321 (GRCm39) |
|
probably null |
Het |
Npl |
A |
T |
1: 153,413,230 (GRCm39) |
V29D |
possibly damaging |
Het |
Or1e29 |
C |
T |
11: 73,667,497 (GRCm39) |
V219I |
probably benign |
Het |
Osmr |
T |
C |
15: 6,881,948 (GRCm39) |
I65M |
possibly damaging |
Het |
Rabepk |
C |
T |
2: 34,670,720 (GRCm39) |
V247I |
probably benign |
Het |
Rere |
C |
T |
4: 150,699,327 (GRCm39) |
P804S |
unknown |
Het |
Rpgrip1 |
A |
T |
14: 52,366,975 (GRCm39) |
Y265F |
possibly damaging |
Het |
Slc10a1 |
T |
C |
12: 81,000,554 (GRCm39) |
D315G |
probably benign |
Het |
Spata17 |
T |
A |
1: 186,872,592 (GRCm39) |
H26L |
unknown |
Het |
Sphkap |
C |
T |
1: 83,245,066 (GRCm39) |
D1518N |
probably damaging |
Het |
Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
Tmx2 |
A |
G |
2: 84,506,480 (GRCm39) |
F71L |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,274,996 (GRCm39) |
L1823Q |
probably benign |
Het |
Virma |
T |
A |
4: 11,513,983 (GRCm39) |
D612E |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,819,752 (GRCm39) |
L1484Q |
|
Het |
Zan |
A |
G |
5: 137,391,352 (GRCm39) |
S4711P |
unknown |
Het |
Zdhhc1 |
A |
G |
8: 106,203,001 (GRCm39) |
|
probably null |
Het |
Zfp971 |
C |
T |
2: 177,675,361 (GRCm39) |
T320I |
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 |
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'- CTGTTCCACAATTTGAAAGATCACC -3'
(R):5'- AATTTCTGACCACCCTAGCAATTCC -3'
Sequencing Primer
(F):5'- TGAAACATGAACATGCTACATGAC -3'
(R):5'- CCTAGCAATTCCAGTAGCAATATGG -3'
|
Posted On |
2020-09-15 |