Incidental Mutation 'R5306:Smc5'
ID |
404599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc5
|
Ensembl Gene |
ENSMUSG00000024943 |
Gene Name |
structural maintenance of chromosomes 5 |
Synonyms |
Smc5l1 |
MMRRC Submission |
042889-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5306 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
23183815-23251261 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 23237009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087556]
[ENSMUST00000087556]
[ENSMUST00000223934]
[ENSMUST00000223934]
[ENSMUST00000226111]
[ENSMUST00000226111]
|
AlphaFold |
Q8CG46 |
Predicted Effect |
probably null
Transcript: ENSMUST00000087556
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943
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 null
Transcript: ENSMUST00000087556
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943
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 null
Transcript: ENSMUST00000223934
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223934
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224723
|
Predicted Effect |
probably null
Transcript: ENSMUST00000226111
|
Predicted Effect |
probably null
Transcript: ENSMUST00000226111
|
Meta Mutation Damage Score |
0.9504 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (64/66) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
T |
A |
8: 56,324,792 (GRCm39) |
D554V |
probably damaging |
Het |
Ankrd44 |
G |
A |
1: 54,965,362 (GRCm39) |
|
probably benign |
Het |
Api5 |
A |
T |
2: 94,253,811 (GRCm39) |
C297* |
probably null |
Het |
Asb14 |
G |
A |
14: 26,633,866 (GRCm39) |
C357Y |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,707,230 (GRCm39) |
|
probably benign |
Het |
Brdt |
T |
A |
5: 107,493,010 (GRCm39) |
D112E |
probably damaging |
Het |
Capsl |
C |
A |
15: 9,457,876 (GRCm39) |
Q32K |
probably benign |
Het |
Ccdc106 |
A |
G |
7: 5,061,096 (GRCm39) |
D81G |
probably damaging |
Het |
Ccdc121rt3 |
T |
C |
5: 112,502,910 (GRCm39) |
R265G |
probably benign |
Het |
Cep104 |
C |
A |
4: 154,090,699 (GRCm39) |
T884K |
probably benign |
Het |
Cmbl |
T |
C |
15: 31,582,215 (GRCm39) |
Y71H |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,380,356 (GRCm39) |
|
probably benign |
Het |
Dynlt1c |
T |
C |
17: 6,869,210 (GRCm39) |
M1T |
probably null |
Het |
Erbb2 |
T |
C |
11: 98,319,032 (GRCm39) |
S574P |
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,646,849 (GRCm39) |
V153A |
probably benign |
Het |
Faxc |
G |
T |
4: 21,931,557 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,791,243 (GRCm39) |
T835A |
probably damaging |
Het |
Fmo5 |
G |
T |
3: 97,549,076 (GRCm39) |
M241I |
probably benign |
Het |
Gabra1 |
A |
C |
11: 42,024,379 (GRCm39) |
I432S |
probably benign |
Het |
Gfap |
A |
G |
11: 102,786,574 (GRCm39) |
|
probably null |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm12185 |
T |
A |
11: 48,806,382 (GRCm39) |
M270L |
probably benign |
Het |
Gm14443 |
T |
C |
2: 175,011,372 (GRCm39) |
N358S |
possibly damaging |
Het |
Gpr3 |
C |
T |
4: 132,938,490 (GRCm39) |
V61M |
probably damaging |
Het |
Herc2 |
C |
T |
7: 55,834,709 (GRCm39) |
T3229M |
probably damaging |
Het |
Ifit3 |
A |
G |
19: 34,565,207 (GRCm39) |
Y251C |
probably damaging |
Het |
Inf2 |
G |
A |
12: 112,567,987 (GRCm39) |
V180I |
probably benign |
Het |
Ints11 |
T |
C |
4: 155,959,665 (GRCm39) |
Y91H |
probably damaging |
Het |
Ints4 |
A |
C |
7: 97,158,885 (GRCm39) |
D419A |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,704,331 (GRCm39) |
S1175P |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,315,730 (GRCm39) |
V44E |
probably damaging |
Het |
Mrgprb13 |
A |
T |
7: 47,961,940 (GRCm39) |
|
noncoding transcript |
Het |
Myh2 |
T |
C |
11: 67,077,382 (GRCm39) |
L839P |
probably damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Or4l1 |
A |
G |
14: 50,167,007 (GRCm39) |
|
probably benign |
Het |
Or6c70 |
A |
C |
10: 129,709,810 (GRCm39) |
I272R |
probably damaging |
Het |
Pced1a |
T |
A |
2: 130,261,091 (GRCm39) |
H422L |
probably benign |
Het |
Plpp1 |
G |
T |
13: 112,988,089 (GRCm39) |
|
probably null |
Het |
Plxna4 |
T |
C |
6: 32,183,056 (GRCm39) |
Y949C |
probably damaging |
Het |
Polg2 |
G |
A |
11: 106,669,796 (GRCm39) |
T158I |
probably damaging |
Het |
Prss38 |
A |
T |
11: 59,263,821 (GRCm39) |
I297K |
probably benign |
Het |
Psph |
A |
G |
5: 129,846,431 (GRCm39) |
L98P |
probably damaging |
Het |
Rab11b |
G |
A |
17: 33,979,243 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
Serpine3 |
G |
A |
14: 62,908,382 (GRCm39) |
A137T |
probably damaging |
Het |
Sh3bp4 |
T |
C |
1: 89,071,997 (GRCm39) |
F282L |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Slco2b1 |
T |
A |
7: 99,338,198 (GRCm39) |
Y109F |
possibly damaging |
Het |
Slfn10-ps |
T |
A |
11: 82,926,355 (GRCm39) |
|
noncoding transcript |
Het |
Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,675,735 (GRCm39) |
E628G |
probably damaging |
Het |
Tmem236 |
A |
T |
2: 14,223,975 (GRCm39) |
K255* |
probably null |
Het |
Ttc29 |
T |
A |
8: 78,978,539 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,087,222 (GRCm39) |
I430T |
probably damaging |
Het |
Uckl1 |
A |
G |
2: 181,216,160 (GRCm39) |
|
probably null |
Het |
Vmn2r52 |
A |
C |
7: 9,904,672 (GRCm39) |
I389R |
possibly damaging |
Het |
Wdr62 |
A |
T |
7: 29,964,688 (GRCm39) |
F352Y |
possibly damaging |
Het |
Wdr70 |
T |
C |
15: 7,953,754 (GRCm39) |
D379G |
probably benign |
Het |
Zfp408 |
T |
A |
2: 91,476,690 (GRCm39) |
M155L |
probably benign |
Het |
Zfp459 |
T |
A |
13: 67,561,249 (GRCm39) |
Q66H |
probably damaging |
Het |
Zfp870 |
C |
A |
17: 33,102,627 (GRCm39) |
G234V |
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 |
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 |
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'- CCCTAGACATACTTTGTAGGTACTCAG -3'
(R):5'- AAGATTTGACTTGCCGTGTTC -3'
Sequencing Primer
(F):5'- GAGAAAATGCCTCCTTTAGACTGGC -3'
(R):5'- TGCCGTGTTCTTATTTTCATTTAAAC -3'
|
Posted On |
2016-07-22 |