Incidental Mutation 'R7477:Smc6'
| ID |
579568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc6
|
| Ensembl Gene |
ENSMUSG00000020608 |
| Gene Name |
structural maintenance of chromosomes 6 |
| Synonyms |
3830418C19Rik, Smc6l1, 2810489L22Rik |
| MMRRC Submission |
045551-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
11315887-11369786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11321808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 25
(D25G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020931]
[ENSMUST00000217906]
[ENSMUST00000218022]
[ENSMUST00000218866]
[ENSMUST00000219776]
|
| AlphaFold |
Q924W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020931
AA Change: D25G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: D25G
| 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 |
possibly damaging
Transcript: ENSMUST00000217906
AA Change: D25G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218022
AA Change: D25G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218866
AA Change: D25G
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219776
AA Change: D25G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
97% (66/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
G |
T |
5: 35,749,447 (GRCm39) |
E191* |
probably null |
Het |
| Adam26a |
T |
A |
8: 44,022,107 (GRCm39) |
E461V |
probably damaging |
Het |
| Adamtsl1 |
G |
A |
4: 86,333,888 (GRCm39) |
R1539Q |
probably damaging |
Het |
| Adipor2 |
A |
T |
6: 119,338,883 (GRCm39) |
H123Q |
probably benign |
Het |
| Akap13 |
C |
T |
7: 75,398,995 (GRCm39) |
S2691L |
probably benign |
Het |
| Aldh1l1 |
T |
C |
6: 90,575,369 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
T |
8: 123,621,124 (GRCm39) |
S909R |
possibly damaging |
Het |
| Bop1 |
T |
C |
15: 76,339,526 (GRCm39) |
E273G |
probably damaging |
Het |
| Car1 |
G |
A |
3: 14,841,343 (GRCm39) |
H97Y |
probably damaging |
Het |
| Casp14 |
T |
C |
10: 78,550,138 (GRCm39) |
N170S |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,798,555 (GRCm39) |
L382M |
probably damaging |
Het |
| Ccdc18 |
A |
C |
5: 108,368,716 (GRCm39) |
Q1279H |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,410,811 (GRCm39) |
N432S |
probably benign |
Het |
| Ctdp1 |
T |
C |
18: 80,483,929 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,916,208 (GRCm39) |
I691T |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,883,557 (GRCm39) |
I2562T |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,356,839 (GRCm39) |
I240F |
probably damaging |
Het |
| Ell |
T |
C |
8: 71,037,868 (GRCm39) |
S308P |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,469,489 (GRCm39) |
D26G |
|
Het |
| Fam171a1 |
T |
C |
2: 3,226,676 (GRCm39) |
V603A |
probably benign |
Het |
| Fam83e |
G |
A |
7: 45,378,404 (GRCm39) |
G476D |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,508,750 (GRCm39) |
|
probably null |
Het |
| Fcer1a |
C |
T |
1: 173,048,851 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
G |
T |
11: 97,226,665 (GRCm39) |
T1830K |
possibly damaging |
Het |
| Grin3a |
G |
A |
4: 49,719,278 (GRCm39) |
P823S |
probably damaging |
Het |
| Heatr4 |
T |
A |
12: 84,026,604 (GRCm39) |
I218F |
probably damaging |
Het |
| Il36rn |
T |
A |
2: 24,169,704 (GRCm39) |
Y21* |
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,330,915 (GRCm39) |
T532A |
probably benign |
Het |
| Klf11 |
A |
G |
12: 24,703,562 (GRCm39) |
D16G |
probably benign |
Het |
| Lrp1 |
T |
A |
10: 127,404,789 (GRCm39) |
I1971F |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,550,301 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,696,528 (GRCm39) |
L2439F |
probably damaging |
Het |
| Lypd10 |
A |
G |
7: 24,413,673 (GRCm39) |
T230A |
probably benign |
Het |
| Mapk14 |
G |
A |
17: 28,964,052 (GRCm39) |
D313N |
probably damaging |
Het |
| Max |
A |
T |
12: 76,999,960 (GRCm39) |
S52T |
probably benign |
Het |
| Mrpl23 |
A |
G |
7: 142,091,018 (GRCm39) |
R80G |
possibly damaging |
Het |
| Muc5ac |
C |
A |
7: 141,370,019 (GRCm39) |
N3186K |
possibly damaging |
Het |
| Mylk2 |
G |
A |
2: 152,762,261 (GRCm39) |
V511I |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,961,500 (GRCm39) |
M1031V |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,300,743 (GRCm39) |
T1488A |
probably benign |
Het |
| Ncbp1 |
A |
T |
4: 46,157,897 (GRCm39) |
E378D |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,956 (GRCm39) |
D174E |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,856,041 (GRCm39) |
D1255E |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,782,675 (GRCm39) |
C261R |
probably damaging |
Het |
| Or5w22 |
A |
G |
2: 87,362,431 (GRCm39) |
N18S |
probably benign |
Het |
| Pgam1 |
T |
A |
19: 41,905,255 (GRCm39) |
H196Q |
probably damaging |
Het |
| Pja2 |
A |
C |
17: 64,616,640 (GRCm39) |
V85G |
possibly damaging |
Het |
| Pkd2 |
G |
A |
5: 104,631,108 (GRCm39) |
V511M |
probably benign |
Het |
| Ppp2cb |
T |
A |
8: 34,105,502 (GRCm39) |
S171T |
probably benign |
Het |
| Prkab2 |
T |
C |
3: 97,566,063 (GRCm39) |
F45S |
probably damaging |
Het |
| Rabep2 |
A |
T |
7: 126,043,990 (GRCm39) |
|
probably null |
Het |
| Rnf41 |
T |
A |
10: 128,271,303 (GRCm39) |
I71N |
probably damaging |
Het |
| Slc5a7 |
G |
A |
17: 54,588,787 (GRCm39) |
P287S |
probably damaging |
Het |
| Sptb |
A |
T |
12: 76,675,339 (GRCm39) |
L225Q |
probably damaging |
Het |
| Tenm4 |
A |
C |
7: 96,495,015 (GRCm39) |
I1148L |
probably damaging |
Het |
| Tnk2 |
C |
A |
16: 32,496,709 (GRCm39) |
|
probably null |
Het |
| Trank1 |
G |
A |
9: 111,194,025 (GRCm39) |
S683N |
probably benign |
Het |
| Trp53bp1 |
A |
C |
2: 121,066,827 (GRCm39) |
V633G |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,479 (GRCm39) |
K182E |
possibly damaging |
Het |
| Uncx |
A |
T |
5: 139,533,017 (GRCm39) |
T361S |
probably benign |
Het |
| Vmn2r11 |
A |
T |
5: 109,207,214 (GRCm39) |
N35K |
possibly damaging |
Het |
| Vmn2r4 |
C |
A |
3: 64,305,850 (GRCm39) |
R524L |
probably benign |
Het |
| Vmn2r5 |
C |
T |
3: 64,399,060 (GRCm39) |
V640M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,410,307 (GRCm39) |
Y632H |
probably damaging |
Het |
| Xkr6 |
T |
C |
14: 63,844,129 (GRCm39) |
S51P |
possibly damaging |
Het |
| Zer1 |
C |
A |
2: 29,997,988 (GRCm39) |
K408N |
probably null |
Het |
| Znhit2 |
A |
G |
19: 6,112,501 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CAGCATCAATAGGGTTGTGTGTC -3'
(R):5'- AATCAGATGCTATCTTTCCCAGC -3'
Sequencing Primer
(F):5'- GCTCAAGGGGGAAATATGTTTC -3'
(R):5'- CCAGCTCTCTAAAACTCTTACTGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation