Incidental Mutation 'R6539:Smc6'
| ID |
543482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc6
|
| Ensembl Gene |
ENSMUSG00000020608 |
| Gene Name |
structural maintenance of chromosomes 6 |
| Synonyms |
3830418C19Rik, Smc6l1, 2810489L22Rik |
| MMRRC Submission |
044665-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6539 (G1)
|
| Quality Score |
160.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
11315887-11369786 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 11347011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
Q924W5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000217930
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
G |
A |
8: 25,272,616 (GRCm39) |
A513V |
possibly damaging |
Het |
| Ano8 |
T |
C |
8: 71,937,127 (GRCm39) |
D147G |
probably damaging |
Het |
| Apba1 |
A |
G |
19: 23,913,924 (GRCm39) |
D649G |
probably damaging |
Het |
| Atp6v0d1 |
T |
C |
8: 106,251,606 (GRCm39) |
I329V |
probably benign |
Het |
| Card6 |
T |
A |
15: 5,134,873 (GRCm39) |
N110I |
probably damaging |
Het |
| Cfap410 |
A |
G |
10: 77,820,322 (GRCm39) |
T231A |
probably benign |
Het |
| Chn2 |
T |
A |
6: 54,150,446 (GRCm39) |
|
probably null |
Het |
| Cyp46a1 |
G |
A |
12: 108,319,416 (GRCm39) |
|
probably null |
Het |
| Daam2 |
T |
A |
17: 49,776,739 (GRCm39) |
H782L |
probably damaging |
Het |
| Defa26 |
A |
G |
8: 22,108,262 (GRCm39) |
I22V |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,245 (GRCm39) |
M278V |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,159,478 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
T |
A |
2: 24,694,779 (GRCm39) |
H1056L |
probably damaging |
Het |
| Ephb3 |
G |
A |
16: 21,040,218 (GRCm39) |
D527N |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,515,186 (GRCm39) |
K1079E |
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,592,206 (GRCm39) |
G231R |
probably benign |
Het |
| Gm4924 |
T |
A |
10: 82,214,358 (GRCm39) |
|
probably benign |
Het |
| Ifrd1 |
G |
A |
12: 40,253,434 (GRCm39) |
A426V |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,313,643 (GRCm39) |
L1358P |
possibly damaging |
Het |
| Igkv5-37 |
A |
T |
6: 69,940,800 (GRCm39) |
S16T |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,778,966 (GRCm39) |
L449P |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,986,863 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
A |
T |
6: 60,964,168 (GRCm39) |
T1056S |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,935,056 (GRCm39) |
H164Y |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,548,621 (GRCm39) |
T5891A |
probably benign |
Het |
| Nagpa |
T |
C |
16: 5,021,565 (GRCm39) |
E62G |
possibly damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,789 (GRCm38) |
V475D |
possibly damaging |
Het |
| Or4c101 |
T |
C |
2: 88,389,864 (GRCm39) |
F6S |
probably damaging |
Het |
| Or5ac15 |
A |
C |
16: 58,940,114 (GRCm39) |
S106R |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,387,463 (GRCm39) |
I144T |
possibly damaging |
Het |
| Parvg |
T |
A |
15: 84,225,541 (GRCm39) |
D349E |
probably damaging |
Het |
| Pitpna |
A |
G |
11: 75,489,127 (GRCm39) |
Y58C |
probably damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,168,503 (GRCm39) |
D73E |
probably benign |
Het |
| Preb |
A |
G |
5: 31,113,420 (GRCm39) |
V338A |
probably benign |
Het |
| Sec23a |
T |
C |
12: 59,031,998 (GRCm39) |
T411A |
probably benign |
Het |
| Stxbp5l |
A |
G |
16: 36,950,177 (GRCm39) |
M1056T |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,447,813 (GRCm39) |
|
probably null |
Het |
| Tent5a |
T |
C |
9: 85,208,614 (GRCm39) |
I70V |
possibly damaging |
Het |
| Tpx2 |
G |
T |
2: 152,718,518 (GRCm39) |
E174* |
probably null |
Het |
| Trpc4ap |
G |
T |
2: 155,478,178 (GRCm39) |
P663T |
probably benign |
Het |
| Unc5cl |
G |
A |
17: 48,772,045 (GRCm39) |
G441D |
probably damaging |
Het |
| Xrcc2 |
G |
T |
5: 25,897,530 (GRCm39) |
R140S |
probably benign |
Het |
| Zfc3h1 |
G |
A |
10: 115,247,907 (GRCm39) |
E1037K |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,309,168 (GRCm39) |
Q798L |
probably damaging |
Het |
| Zfp94 |
G |
A |
7: 24,002,716 (GRCm39) |
T236M |
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 |
|
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 |
|
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'- AGTTGTGAGGCAAAGTATCTCG -3'
(R):5'- CTGAAGGGTTATTATGTGGCCC -3'
Sequencing Primer
(F):5'- GTGAGGCAAAGTATCTCGTCCTATTC -3'
(R):5'- GTGGCCCTTTTTATTTTCAATCTCAG -3'
|
| Posted On |
2019-01-16 |
Incidental Mutation