Incidental Mutation 'IGL00563:Smc6'
| ID |
277772 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smc6
|
| Ensembl Gene |
ENSMUSG00000020608 |
| Gene Name |
structural maintenance of chromosomes 6 |
| Synonyms |
3830418C19Rik, Smc6l1, 2810489L22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
11315887-11369786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11351532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 854
(S854T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020931]
[ENSMUST00000218022]
|
| AlphaFold |
Q924W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020931
AA Change: S854T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: S854T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMC_N
|
53 |
1077 |
4.7e-17 |
PFAM |
|
Pfam:AAA_15
|
54 |
438 |
3.1e-9 |
PFAM |
|
Pfam:AAA_23
|
56 |
398 |
5e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217991
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218319
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
C |
5: 25,202,619 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,222,596 (GRCm39) |
|
probably benign |
Het |
| AU016765 |
C |
A |
17: 64,826,877 (GRCm39) |
|
noncoding transcript |
Het |
| Clstn2 |
A |
G |
9: 97,464,505 (GRCm39) |
|
probably benign |
Het |
| Crip1 |
T |
A |
12: 113,117,232 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
| Fktn |
A |
T |
4: 53,747,007 (GRCm39) |
|
probably null |
Het |
| Fndc3a |
C |
A |
14: 72,796,797 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
A |
4: 88,267,046 (GRCm39) |
M1019K |
unknown |
Het |
| Fuca2 |
A |
T |
10: 13,381,651 (GRCm39) |
D188V |
probably damaging |
Het |
| Gzmk |
C |
T |
13: 113,309,658 (GRCm39) |
V92I |
probably benign |
Het |
| Mprip |
C |
T |
11: 59,643,443 (GRCm39) |
R520W |
probably damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,942,853 (GRCm39) |
V19A |
probably benign |
Het |
| Ndufb3 |
T |
A |
1: 58,634,958 (GRCm39) |
H103Q |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,382,779 (GRCm39) |
V1675A |
possibly damaging |
Het |
| Saxo1 |
C |
T |
4: 86,363,809 (GRCm39) |
E225K |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,540,268 (GRCm39) |
S383P |
probably damaging |
Het |
| Slc22a29 |
T |
A |
19: 8,138,993 (GRCm39) |
T490S |
probably benign |
Het |
| Smim23 |
T |
C |
11: 32,771,893 (GRCm39) |
T58A |
probably benign |
Het |
| Tas2r134 |
T |
C |
2: 51,518,100 (GRCm39) |
I193T |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,379,658 (GRCm39) |
|
probably null |
Het |
| Trav13n-4 |
T |
G |
14: 53,601,423 (GRCm39) |
V64G |
possibly damaging |
Het |
| Trmt10a |
G |
A |
3: 137,853,177 (GRCm39) |
E13K |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,922,496 (GRCm39) |
S239G |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,077 (GRCm39) |
N442K |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,712,078 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,526,366 (GRCm39) |
D5G |
probably benign |
Het |
|
| Other mutations in Smc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Smc6
|
APN |
12 |
11,349,264 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL00562:Smc6
|
APN |
12 |
11,351,532 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01420:Smc6
|
APN |
12 |
11,341,659 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02299:Smc6
|
APN |
12 |
11,340,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0207:Smc6
|
UTSW |
12 |
11,333,179 (GRCm39) |
unclassified |
probably benign |
|
|
R0365:Smc6
|
UTSW |
12 |
11,333,175 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0669:Smc6
|
UTSW |
12 |
11,339,165 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0732:Smc6
|
UTSW |
12 |
11,340,818 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1398:Smc6
|
UTSW |
12 |
11,321,880 (GRCm39) |
splice site |
probably benign |
|
|
R1509:Smc6
|
UTSW |
12 |
11,329,734 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1739:Smc6
|
UTSW |
12 |
11,367,854 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1775:Smc6
|
UTSW |
12 |
11,359,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1815:Smc6
|
UTSW |
12 |
11,344,602 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1937:Smc6
|
UTSW |
12 |
11,349,399 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2090:Smc6
|
UTSW |
12 |
11,339,987 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2885:Smc6
|
UTSW |
12 |
11,326,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2886:Smc6
|
UTSW |
12 |
11,326,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2991:Smc6
|
UTSW |
12 |
11,339,982 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3825:Smc6
|
UTSW |
12 |
11,351,517 (GRCm39) |
splice site |
probably benign |
|
|
R3967:Smc6
|
UTSW |
12 |
11,348,327 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3975:Smc6
|
UTSW |
12 |
11,324,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4660:Smc6
|
UTSW |
12 |
11,324,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Smc6
|
UTSW |
12 |
11,332,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5412:Smc6
|
UTSW |
12 |
11,335,400 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5523:Smc6
|
UTSW |
12 |
11,341,540 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5643:Smc6
|
UTSW |
12 |
11,339,995 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5644:Smc6
|
UTSW |
12 |
11,339,995 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5782:Smc6
|
UTSW |
12 |
11,340,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6027:Smc6
|
UTSW |
12 |
11,356,179 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6083:Smc6
|
UTSW |
12 |
11,326,354 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6344:Smc6
|
UTSW |
12 |
11,347,107 (GRCm39) |
intron |
probably benign |
|
|
R6374:Smc6
|
UTSW |
12 |
11,355,874 (GRCm39) |
splice site |
probably null |
|
|
R6430:Smc6
|
UTSW |
12 |
11,359,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6539:Smc6
|
UTSW |
12 |
11,347,011 (GRCm39) |
splice site |
probably null |
|
|
R6767:Smc6
|
UTSW |
12 |
11,321,821 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7042:Smc6
|
UTSW |
12 |
11,359,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7128:Smc6
|
UTSW |
12 |
11,351,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7477:Smc6
|
UTSW |
12 |
11,321,808 (GRCm39) |
missense |
probably benign |
|
|
R7698:Smc6
|
UTSW |
12 |
11,333,141 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7832:Smc6
|
UTSW |
12 |
11,367,844 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7863:Smc6
|
UTSW |
12 |
11,339,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8192:Smc6
|
UTSW |
12 |
11,349,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8229:Smc6
|
UTSW |
12 |
11,341,673 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8289:Smc6
|
UTSW |
12 |
11,324,052 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9233:Smc6
|
UTSW |
12 |
11,359,291 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9596:Smc6
|
UTSW |
12 |
11,345,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation