Incidental Mutation 'R2991:Smc6'
ID |
257914 |
Institutional Source |
Beutler Lab
|
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 # |
R2991 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
11315887-11369786 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11339982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 430
(E430G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020931]
[ENSMUST00000218022]
[ENSMUST00000218866]
|
AlphaFold |
Q924W5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020931
AA Change: E430G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020931 Gene: ENSMUSG00000020608 AA Change: E430G
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 |
probably benign
Transcript: ENSMUST00000217930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217991
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218022
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218866
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220289
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
T |
A |
9: 30,832,690 (GRCm39) |
T282S |
probably benign |
Het |
Asic2 |
C |
A |
11: 81,858,863 (GRCm39) |
V50L |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,823,521 (GRCm39) |
M324V |
possibly damaging |
Het |
Cdcp3 |
A |
T |
7: 130,848,429 (GRCm39) |
D861V |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,607,547 (GRCm39) |
V427D |
probably damaging |
Het |
Col3a1 |
C |
A |
1: 45,374,939 (GRCm39) |
|
probably benign |
Het |
Esp24 |
A |
T |
17: 39,350,894 (GRCm39) |
E31D |
possibly damaging |
Het |
Igkv14-100 |
T |
A |
6: 68,496,335 (GRCm39) |
L76* |
probably null |
Het |
Itsn2 |
T |
C |
12: 4,708,474 (GRCm39) |
V843A |
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,741,946 (GRCm39) |
S663P |
probably benign |
Het |
Lsg1 |
T |
C |
16: 30,380,547 (GRCm39) |
N630S |
probably damaging |
Het |
Lypd8l |
C |
T |
11: 58,501,516 (GRCm39) |
V156I |
possibly damaging |
Het |
Msh4 |
A |
G |
3: 153,611,497 (GRCm39) |
V42A |
probably benign |
Het |
Nkx6-1 |
T |
C |
5: 101,807,401 (GRCm39) |
Y327C |
probably damaging |
Het |
Or9i1b |
G |
A |
19: 13,896,675 (GRCm39) |
C97Y |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,114,539 (GRCm39) |
S369P |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,704,137 (GRCm39) |
I600V |
probably benign |
Het |
Plekhg6 |
T |
C |
6: 125,347,432 (GRCm39) |
E479G |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rgmb |
A |
T |
17: 16,041,352 (GRCm39) |
D78E |
probably damaging |
Het |
Samd12 |
C |
T |
15: 53,723,592 (GRCm39) |
E34K |
probably damaging |
Het |
Slc22a21 |
T |
G |
11: 53,850,195 (GRCm39) |
E220A |
probably damaging |
Het |
Snx15 |
C |
A |
19: 6,171,515 (GRCm39) |
L186F |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,568,525 (GRCm39) |
E1557G |
probably benign |
Het |
Vwa8 |
A |
T |
14: 79,232,589 (GRCm39) |
T644S |
probably benign |
Het |
Zcchc4 |
T |
A |
5: 52,961,780 (GRCm39) |
F247Y |
probably damaging |
Het |
Zmynd11 |
A |
G |
13: 9,745,858 (GRCm39) |
V165A |
probably damaging |
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 |
IGL00563: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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTGTGGAATGCTGCATCTTTG -3'
(R):5'- CCCACAGATTGCTAAAATGTACAAG -3'
Sequencing Primer
(F):5'- TGTTGGTTTTAATGAAAGTTGCTTAC -3'
(R):5'- CAGGCTAGTCCGGATTACACAATG -3'
|
Posted On |
2015-01-11 |