Incidental Mutation 'R5412:Smc6'
ID |
427549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc6
|
Ensembl Gene |
ENSMUSG00000020608 |
Gene Name |
structural maintenance of chromosomes 6 |
Synonyms |
3830418C19Rik, Smc6l1, 2810489L22Rik |
MMRRC Submission |
042981-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5412 (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 11335400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 318
(E318G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020931]
[ENSMUST00000217906]
[ENSMUST00000218022]
[ENSMUST00000218866]
|
AlphaFold |
Q924W5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020931
AA Change: E318G
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000020931 Gene: ENSMUSG00000020608 AA Change: E318G
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: ENSMUST00000217906
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218022
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218866
AA Change: E318G
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
A |
9: 55,886,036 (GRCm39) |
N36Y |
probably damaging |
Het |
Ankfn1 |
T |
A |
11: 89,396,007 (GRCm39) |
E246D |
probably benign |
Het |
Arid1a |
T |
C |
4: 133,446,913 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,653,522 (GRCm39) |
D300E |
probably benign |
Het |
C3 |
T |
C |
17: 57,527,187 (GRCm39) |
D754G |
probably benign |
Het |
Ccpg1 |
A |
T |
9: 72,917,588 (GRCm39) |
Q240L |
probably damaging |
Het |
Cdk13 |
G |
A |
13: 17,941,115 (GRCm39) |
P650S |
probably damaging |
Het |
Celsr2 |
G |
T |
3: 108,307,311 (GRCm39) |
S1933Y |
probably damaging |
Het |
Cep135 |
T |
A |
5: 76,764,709 (GRCm39) |
H562Q |
probably benign |
Het |
Cyp26a1 |
G |
T |
19: 37,689,630 (GRCm39) |
C442F |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,674,503 (GRCm39) |
S425G |
probably benign |
Het |
Espn |
C |
T |
4: 152,212,582 (GRCm39) |
V752M |
probably damaging |
Het |
Glyr1 |
A |
G |
16: 4,854,297 (GRCm39) |
S113P |
possibly damaging |
Het |
Grk4 |
A |
T |
5: 34,902,612 (GRCm39) |
Y388F |
probably benign |
Het |
H2-T15 |
C |
T |
17: 36,366,936 (GRCm39) |
C369Y |
probably benign |
Het |
Heca |
C |
A |
10: 17,778,044 (GRCm39) |
V518F |
probably damaging |
Het |
Hmcn2 |
C |
T |
2: 31,236,629 (GRCm39) |
P391S |
possibly damaging |
Het |
Hnrnpl |
A |
G |
7: 28,510,529 (GRCm39) |
|
probably benign |
Het |
Hsd3b2 |
A |
G |
3: 98,619,208 (GRCm39) |
S246P |
possibly damaging |
Het |
Ifna11 |
C |
T |
4: 88,738,380 (GRCm39) |
P62L |
probably damaging |
Het |
Katnal2 |
A |
T |
18: 77,090,131 (GRCm39) |
V292D |
probably damaging |
Het |
Krt16 |
T |
A |
11: 100,137,593 (GRCm39) |
I371F |
probably damaging |
Het |
Ly6g2 |
A |
T |
15: 75,089,669 (GRCm39) |
E59V |
probably damaging |
Het |
Map10 |
A |
T |
8: 126,397,724 (GRCm39) |
L372F |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,324,219 (GRCm39) |
M87L |
probably damaging |
Het |
Ncoa6 |
T |
C |
2: 155,249,701 (GRCm39) |
H1201R |
possibly damaging |
Het |
Ndc80 |
C |
A |
17: 71,821,226 (GRCm39) |
D241Y |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,205,508 (GRCm39) |
M94V |
possibly damaging |
Het |
Nkx2-6 |
G |
T |
14: 69,412,195 (GRCm39) |
R121L |
probably damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Or6a2 |
A |
G |
7: 106,600,842 (GRCm39) |
V75A |
probably damaging |
Het |
Otop1 |
A |
G |
5: 38,455,328 (GRCm39) |
I241V |
probably benign |
Het |
Panx2 |
C |
A |
15: 88,953,135 (GRCm39) |
P542H |
possibly damaging |
Het |
Pcdha5 |
C |
A |
18: 37,095,510 (GRCm39) |
P673Q |
probably benign |
Het |
Pon1 |
A |
G |
6: 5,185,314 (GRCm39) |
L62P |
probably damaging |
Het |
Prdx6 |
A |
T |
1: 161,071,860 (GRCm39) |
I102N |
probably damaging |
Het |
Prkd3 |
T |
A |
17: 79,262,140 (GRCm39) |
I725F |
possibly damaging |
Het |
Selenon |
T |
C |
4: 134,269,749 (GRCm39) |
N395S |
probably benign |
Het |
Serpinb8 |
G |
A |
1: 107,533,616 (GRCm39) |
E224K |
probably benign |
Het |
Serpinb9b |
A |
G |
13: 33,213,496 (GRCm39) |
M18V |
probably benign |
Het |
Srrt |
A |
T |
5: 137,294,549 (GRCm39) |
Y786N |
probably damaging |
Het |
Stk36 |
G |
T |
1: 74,644,615 (GRCm39) |
|
probably null |
Het |
Stpg1 |
T |
A |
4: 135,252,786 (GRCm39) |
L179Q |
possibly damaging |
Het |
Stra8 |
G |
A |
6: 34,907,885 (GRCm39) |
M1I |
probably null |
Het |
Tiam1 |
G |
T |
16: 89,681,753 (GRCm39) |
H408Q |
possibly damaging |
Het |
Tm2d1 |
G |
A |
4: 98,253,855 (GRCm39) |
T106I |
probably damaging |
Het |
Tmem150b |
A |
C |
7: 4,719,368 (GRCm39) |
I184S |
probably null |
Het |
Vmn1r216 |
A |
G |
13: 23,284,081 (GRCm39) |
I255V |
probably benign |
Het |
Vps13b |
G |
A |
15: 35,533,531 (GRCm39) |
A868T |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,341,620 (GRCm39) |
D1216N |
probably null |
Het |
Zfp26 |
T |
C |
9: 20,349,535 (GRCm39) |
Y343C |
possibly damaging |
Het |
Zfp276 |
A |
T |
8: 123,982,520 (GRCm39) |
I95F |
probably damaging |
Het |
Zfp330 |
T |
C |
8: 83,490,865 (GRCm39) |
E315G |
probably benign |
Het |
Zfp683 |
C |
A |
4: 133,781,862 (GRCm39) |
P56Q |
probably damaging |
Het |
Zpld1 |
T |
A |
16: 55,052,646 (GRCm39) |
S323C |
possibly 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 |
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 |
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'- TGGGCAGTGGTAATTTTCACTC -3'
(R):5'- AGTCCAAGCCTCAGATAGGG -3'
Sequencing Primer
(F):5'- GCAGTGGTAATTTTCACTCTTGTTC -3'
(R):5'- GCCTCAGATAGGGTTATTTCAGCC -3'
|
Posted On |
2016-09-01 |