Incidental Mutation 'R3825:Smc6'
ID |
275360 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc6
|
Ensembl Gene |
ENSMUSG00000020608 |
Gene Name |
structural maintenance of chromosomes 6 |
Synonyms |
3830418C19Rik, Smc6l1, 2810489L22Rik |
MMRRC Submission |
040774-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3825 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
11315887-11369786 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 11351517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020931]
[ENSMUST00000218022]
|
AlphaFold |
Q924W5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020931
|
SMART Domains |
Protein: ENSMUSP00000020931 Gene: ENSMUSG00000020608
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
98% (63/64) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
A |
G |
11: 117,693,739 (GRCm39) |
K69E |
probably damaging |
Het |
Abcb5 |
C |
T |
12: 118,865,087 (GRCm39) |
|
probably null |
Het |
Acot1 |
G |
T |
12: 84,061,194 (GRCm39) |
G167* |
probably null |
Het |
Agbl1 |
C |
T |
7: 76,069,715 (GRCm39) |
H164Y |
probably damaging |
Het |
Atp4b |
T |
C |
8: 13,443,549 (GRCm39) |
Y43C |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,984,055 (GRCm39) |
D3333G |
unknown |
Het |
Ccdc27 |
A |
C |
4: 154,120,742 (GRCm39) |
D351E |
unknown |
Het |
Cd200r4 |
T |
C |
16: 44,641,313 (GRCm39) |
F19L |
probably benign |
Het |
Dbndd1 |
T |
A |
8: 124,236,731 (GRCm39) |
I75F |
probably damaging |
Het |
Dennd5b |
T |
C |
6: 148,946,334 (GRCm39) |
K426E |
probably benign |
Het |
Drg2 |
A |
G |
11: 60,350,334 (GRCm39) |
T98A |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fmo1 |
T |
C |
1: 162,678,916 (GRCm39) |
|
probably benign |
Het |
Foxn2 |
A |
T |
17: 88,791,837 (GRCm39) |
I236F |
probably damaging |
Het |
Glmp |
G |
A |
3: 88,233,718 (GRCm39) |
V107I |
probably damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,723 (GRCm39) |
F122S |
probably damaging |
Het |
Gvin-ps3 |
T |
C |
7: 105,682,780 (GRCm39) |
I158M |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,462,716 (GRCm39) |
D5140E |
probably benign |
Het |
Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
Igfbp4 |
A |
G |
11: 98,939,061 (GRCm39) |
E27G |
probably damaging |
Het |
Il7 |
A |
G |
3: 7,642,226 (GRCm39) |
|
probably benign |
Het |
Kat6a |
G |
T |
8: 23,352,380 (GRCm39) |
V55F |
probably damaging |
Het |
Kynu |
A |
G |
2: 43,571,451 (GRCm39) |
T456A |
probably benign |
Het |
Lcorl |
A |
G |
5: 45,932,729 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,655,290 (GRCm39) |
R1077* |
probably null |
Het |
Mab21l2 |
T |
C |
3: 86,454,211 (GRCm39) |
E263G |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,338,744 (GRCm39) |
D1436V |
probably benign |
Het |
Map4k2 |
C |
A |
19: 6,394,081 (GRCm39) |
T252N |
probably benign |
Het |
Mterf2 |
A |
T |
10: 84,956,147 (GRCm39) |
L159Q |
probably damaging |
Het |
Muc5ac |
C |
A |
7: 141,368,460 (GRCm39) |
T3063K |
possibly damaging |
Het |
Myo18a |
T |
A |
11: 77,668,292 (GRCm39) |
S51T |
possibly damaging |
Het |
Ncoa3 |
G |
T |
2: 165,896,718 (GRCm39) |
G503V |
possibly damaging |
Het |
Ncor1 |
A |
T |
11: 62,264,183 (GRCm39) |
H406Q |
probably benign |
Het |
Nectin2 |
T |
C |
7: 19,458,510 (GRCm39) |
K434E |
possibly damaging |
Het |
Nipal2 |
A |
T |
15: 34,578,852 (GRCm39) |
|
probably null |
Het |
Nub1 |
G |
C |
5: 24,912,851 (GRCm39) |
S517T |
probably benign |
Het |
Or10a4 |
T |
C |
7: 106,696,816 (GRCm39) |
L48P |
possibly damaging |
Het |
Or4d10c |
A |
G |
19: 12,065,391 (GRCm39) |
V255A |
probably damaging |
Het |
Or8b101 |
A |
T |
9: 38,020,134 (GRCm39) |
I51F |
possibly damaging |
Het |
Or8c17 |
T |
G |
9: 38,179,814 (GRCm39) |
S2A |
probably benign |
Het |
Plscr3 |
G |
A |
11: 69,740,964 (GRCm39) |
V267M |
probably benign |
Het |
Plxnb2 |
G |
T |
15: 89,050,602 (GRCm39) |
N451K |
probably benign |
Het |
Ppp2r2a |
A |
G |
14: 67,259,892 (GRCm39) |
L268P |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,186,694 (GRCm39) |
I1743F |
probably benign |
Het |
Rack1 |
A |
G |
11: 48,693,131 (GRCm39) |
T105A |
probably benign |
Het |
Rhot1 |
G |
A |
11: 80,116,907 (GRCm39) |
V94I |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Spink8 |
T |
A |
9: 109,645,861 (GRCm39) |
V11D |
probably damaging |
Het |
Ss18l1 |
A |
T |
2: 179,705,103 (GRCm39) |
Q365L |
unknown |
Het |
Tbc1d31 |
T |
A |
15: 57,779,474 (GRCm39) |
H62Q |
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,061,954 (GRCm39) |
V1171A |
possibly damaging |
Het |
Tln1 |
G |
A |
4: 43,536,413 (GRCm39) |
|
probably benign |
Het |
Tmem220 |
G |
A |
11: 66,916,077 (GRCm39) |
A25T |
possibly damaging |
Het |
Tmem259 |
T |
C |
10: 79,814,282 (GRCm39) |
N334S |
possibly damaging |
Het |
Tmod3 |
A |
T |
9: 75,414,809 (GRCm39) |
|
probably benign |
Het |
Tmprss2 |
A |
T |
16: 97,398,021 (GRCm39) |
Y52N |
probably damaging |
Het |
Tsga10 |
A |
T |
1: 37,873,278 (GRCm39) |
N200K |
possibly damaging |
Het |
Ube2frt |
T |
C |
12: 36,141,036 (GRCm39) |
|
probably benign |
Het |
Vmn1r189 |
T |
A |
13: 22,286,382 (GRCm39) |
T152S |
probably benign |
Het |
Vmn2r76 |
C |
T |
7: 85,880,415 (GRCm39) |
M90I |
probably benign |
Het |
Zfr |
C |
T |
15: 12,166,277 (GRCm39) |
A849V |
probably damaging |
Het |
Znhit6 |
T |
C |
3: 145,284,099 (GRCm39) |
M95T |
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 |
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 |
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'- CCACTAGGGAGGGGTAGAGTTC -3'
(R):5'- TGTCATTCCATAAGATACTGTTCACTG -3'
Sequencing Primer
(F):5'- GTGCTAACAACTGGCTGTAACTGC -3'
(R):5'- ACTGTTCACTGTTATAATGCTCATAC -3'
|
Posted On |
2015-04-02 |