Incidental Mutation 'R8229:Smc6'
| ID |
640955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc6
|
| Ensembl Gene |
ENSMUSG00000020608 |
| Gene Name |
structural maintenance of chromosomes 6 |
| Synonyms |
3830418C19Rik, Smc6l1, 2810489L22Rik |
| MMRRC Submission |
067645-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
11315887-11369786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11341673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 564
(S564T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020931]
|
| AlphaFold |
Q924W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020931
AA Change: S564T
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: S564T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,201,754 (GRCm39) |
M203K |
probably damaging |
Het |
| Arhgap23 |
G |
A |
11: 97,344,732 (GRCm39) |
V565I |
probably benign |
Het |
| D6Wsu163e |
G |
T |
6: 126,943,966 (GRCm39) |
R454L |
probably benign |
Het |
| Def6 |
A |
G |
17: 28,436,729 (GRCm39) |
D131G |
probably damaging |
Het |
| Erc1 |
T |
C |
6: 119,730,249 (GRCm39) |
T616A |
probably benign |
Het |
| Ermard |
T |
A |
17: 15,279,596 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,808,487 (GRCm39) |
L1602P |
possibly damaging |
Het |
| Gli1 |
C |
T |
10: 127,168,317 (GRCm39) |
R512Q |
possibly damaging |
Het |
| Gm6034 |
A |
G |
17: 36,367,268 (GRCm39) |
T38A |
unknown |
Het |
| H2-M10.1 |
T |
C |
17: 36,634,931 (GRCm39) |
I325V |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,578,030 (GRCm39) |
D1107G |
unknown |
Het |
| Iws1 |
A |
G |
18: 32,217,740 (GRCm39) |
N448S |
probably benign |
Het |
| Klhl24 |
T |
C |
16: 19,933,321 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,540,608 (GRCm39) |
A304V |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,186,138 (GRCm39) |
E646G |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,754,402 (GRCm39) |
V59E |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,711,807 (GRCm39) |
T672I |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,017 (GRCm39) |
E1233D |
possibly damaging |
Het |
| Magi3 |
T |
C |
3: 103,923,018 (GRCm39) |
E1233G |
probably benign |
Het |
| Mgat5b |
A |
T |
11: 116,838,213 (GRCm39) |
K284M |
probably benign |
Het |
| Nedd4 |
G |
T |
9: 72,638,670 (GRCm39) |
K485N |
probably benign |
Het |
| Or4c114 |
T |
A |
2: 88,905,382 (GRCm39) |
N18Y |
possibly damaging |
Het |
| Or5b101 |
A |
G |
19: 13,005,561 (GRCm39) |
I44T |
possibly damaging |
Het |
| Or5p57 |
C |
T |
7: 107,665,794 (GRCm39) |
M70I |
probably benign |
Het |
| Or5w17 |
A |
T |
2: 87,583,408 (GRCm39) |
C310S |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,400,604 (GRCm39) |
H1106R |
unknown |
Het |
| Pcdha7 |
C |
A |
18: 37,107,776 (GRCm39) |
S267* |
probably null |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,671 (GRCm39) |
I334V |
probably benign |
Het |
| Phf11b |
A |
T |
14: 59,568,730 (GRCm39) |
L61Q |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,388,689 (GRCm39) |
D138G |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,484,622 (GRCm39) |
V1592A |
probably damaging |
Het |
| Spty2d1 |
A |
G |
7: 46,647,522 (GRCm39) |
V469A |
probably benign |
Het |
| Trim11 |
G |
A |
11: 58,872,167 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
T |
A |
3: 146,607,204 (GRCm39) |
I158K |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,367,463 (GRCm39) |
E402G |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,075,929 (GRCm39) |
V383A |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,957,167 (GRCm39) |
|
probably benign |
Het |
| Ywhab |
T |
G |
2: 163,856,015 (GRCm39) |
Y130* |
probably null |
Het |
| Zfp609 |
T |
C |
9: 65,610,782 (GRCm39) |
K727R |
possibly damaging |
Het |
| Zscan30 |
A |
C |
18: 24,104,737 (GRCm39) |
L37R |
noncoding transcript |
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 |
|
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 |
|
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'- CAAGTTCTTCTAGGGAGTGATCTC -3'
(R):5'- AAGAGTTTTGGCTATCATCCCC -3'
Sequencing Primer
(F):5'- GTGATCTCTCTGTAGGACGATATTAC -3'
(R):5'- TCCCCTTTAGAAGAAAACAGTTCTGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation