Incidental Mutation 'R6767:Smc6'
| ID |
531998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc6
|
| Ensembl Gene |
ENSMUSG00000020608 |
| Gene Name |
structural maintenance of chromosomes 6 |
| Synonyms |
3830418C19Rik, Smc6l1, 2810489L22Rik |
| MMRRC Submission |
044883-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6767 (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 11321821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 29
(D29E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020931]
[ENSMUST00000217906]
[ENSMUST00000218022]
[ENSMUST00000218866]
[ENSMUST00000219776]
|
| AlphaFold |
Q924W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020931
AA Change: D29E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: D29E
| 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: D29E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218022
AA Change: D29E
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218866
AA Change: D29E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219776
AA Change: D29E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (67/67) |
| 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 |
|---|
| Adam34l |
G |
A |
8: 44,079,951 (GRCm39) |
T91I |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,732,866 (GRCm39) |
N537D |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Atp8a2 |
A |
G |
14: 60,284,171 (GRCm39) |
F47S |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,550,888 (GRCm38) |
T449S |
probably damaging |
Het |
| Ccdc33 |
C |
G |
9: 57,940,527 (GRCm39) |
Q489H |
possibly damaging |
Het |
| Cd163 |
T |
G |
6: 124,281,738 (GRCm39) |
S14A |
possibly damaging |
Het |
| Cemip |
G |
A |
7: 83,647,832 (GRCm39) |
L83F |
probably damaging |
Het |
| Chrd |
C |
T |
16: 20,557,376 (GRCm39) |
P665L |
probably benign |
Het |
| Cib4 |
T |
A |
5: 30,691,589 (GRCm39) |
H44L |
probably benign |
Het |
| Clic1 |
T |
A |
17: 35,272,029 (GRCm39) |
L99Q |
probably benign |
Het |
| Cnst |
C |
T |
1: 179,437,519 (GRCm39) |
T361I |
possibly damaging |
Het |
| Dnah6 |
C |
A |
6: 73,110,591 (GRCm39) |
V1613L |
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,634 (GRCm39) |
S57P |
probably damaging |
Het |
| Dyrk3 |
T |
C |
1: 131,057,327 (GRCm39) |
H282R |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,313 (GRCm39) |
I651V |
possibly damaging |
Het |
| Gas6 |
A |
G |
8: 13,515,784 (GRCm39) |
S663P |
probably damaging |
Het |
| Gbp8 |
T |
C |
5: 105,166,478 (GRCm39) |
M284V |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,650,933 (GRCm39) |
|
probably null |
Het |
| Gm6034 |
T |
A |
17: 36,354,023 (GRCm39) |
M1K |
probably null |
Het |
| Gm9376 |
A |
G |
14: 118,504,648 (GRCm39) |
T27A |
unknown |
Het |
| Grid2 |
A |
G |
6: 63,907,999 (GRCm39) |
D213G |
probably benign |
Het |
| Gsdma3 |
A |
T |
11: 98,528,710 (GRCm39) |
D388V |
possibly damaging |
Het |
| H4c2 |
T |
A |
13: 23,941,005 (GRCm39) |
M1K |
probably null |
Het |
| Hdac9 |
T |
A |
12: 34,337,528 (GRCm39) |
H716L |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,308,203 (GRCm39) |
S148P |
probably damaging |
Het |
| Kctd1 |
T |
C |
18: 15,195,232 (GRCm39) |
T464A |
possibly damaging |
Het |
| Kera |
A |
G |
10: 97,445,034 (GRCm39) |
D131G |
possibly damaging |
Het |
| Kif2c |
C |
T |
4: 117,035,385 (GRCm39) |
R21Q |
probably benign |
Het |
| Luc7l3 |
G |
T |
11: 94,183,779 (GRCm39) |
D453E |
probably damaging |
Het |
| Mrpl9 |
A |
G |
3: 94,357,528 (GRCm39) |
|
probably benign |
Het |
| Mtss1 |
T |
C |
15: 58,825,430 (GRCm39) |
S257G |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,974,530 (GRCm39) |
F1467L |
probably damaging |
Het |
| Naa25 |
T |
C |
5: 121,577,928 (GRCm39) |
V945A |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,407,923 (GRCm39) |
I103M |
probably damaging |
Het |
| Or2w1b |
C |
T |
13: 21,300,227 (GRCm39) |
R122C |
probably benign |
Het |
| Orm3 |
C |
T |
4: 63,274,531 (GRCm39) |
T32I |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Plch1 |
A |
T |
3: 63,662,765 (GRCm39) |
M246K |
probably damaging |
Het |
| Pld4 |
A |
C |
12: 112,730,549 (GRCm39) |
D144A |
possibly damaging |
Het |
| Prelp |
C |
A |
1: 133,840,448 (GRCm39) |
V345L |
probably benign |
Het |
| Rnf121 |
A |
G |
7: 101,672,619 (GRCm39) |
F238L |
probably damaging |
Het |
| Rnf40 |
A |
G |
7: 127,195,757 (GRCm39) |
K667R |
possibly damaging |
Het |
| Scgb1b12 |
A |
T |
7: 32,033,920 (GRCm39) |
N60I |
probably damaging |
Het |
| Serpina3n |
T |
G |
12: 104,375,321 (GRCm39) |
V131G |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,870,328 (GRCm39) |
Y119C |
probably damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,094,409 (GRCm39) |
F204S |
probably damaging |
Het |
| Smgc |
T |
A |
15: 91,725,601 (GRCm39) |
F40Y |
possibly damaging |
Het |
| Sorcs3 |
G |
T |
19: 48,702,010 (GRCm39) |
L630F |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,426,982 (GRCm39) |
K306E |
possibly damaging |
Het |
| Spmip2 |
A |
T |
3: 79,337,330 (GRCm39) |
D46V |
probably benign |
Het |
| Spsb1 |
C |
T |
4: 149,991,301 (GRCm39) |
G89D |
probably damaging |
Het |
| Stat4 |
G |
T |
1: 52,115,742 (GRCm39) |
M227I |
probably benign |
Het |
| Syngr4 |
A |
G |
7: 45,536,915 (GRCm39) |
V116A |
possibly damaging |
Het |
| Tacc1 |
T |
C |
8: 25,730,816 (GRCm39) |
M1V |
probably null |
Het |
| Tcf7l1 |
T |
G |
6: 72,608,275 (GRCm39) |
K355Q |
probably damaging |
Het |
| Tmem192 |
T |
C |
8: 65,416,888 (GRCm39) |
S36P |
probably damaging |
Het |
| Top3a |
G |
T |
11: 60,641,579 (GRCm39) |
N368K |
possibly damaging |
Het |
| Tpk1 |
T |
A |
6: 43,323,727 (GRCm39) |
I241F |
possibly damaging |
Het |
| Trappc10 |
A |
G |
10: 78,029,345 (GRCm39) |
I1064T |
possibly damaging |
Het |
| Vmn1r18 |
T |
A |
6: 57,367,206 (GRCm39) |
K116M |
probably damaging |
Het |
| Vmn2r40 |
A |
T |
7: 8,923,139 (GRCm39) |
H407Q |
unknown |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,807 (GRCm39) |
L467H |
probably damaging |
Het |
| Wdr59 |
G |
T |
8: 112,202,733 (GRCm39) |
S603R |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zfp324 |
A |
C |
7: 12,704,527 (GRCm39) |
K74N |
probably null |
Het |
| Zfyve16 |
A |
G |
13: 92,644,707 (GRCm39) |
L1165P |
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 |
|
R6539:Smc6
|
UTSW |
12 |
11,347,011 (GRCm39) |
splice site |
probably null |
|
|
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'- CAGCATCAATAGGGTTGTGTGTC -3'
(R):5'- ATCAGATGCTATCTTTCCCAGC -3'
Sequencing Primer
(F):5'- GCTCAAGGGGGAAATATGTTTC -3'
(R):5'- CCAGCTCTCTAAAACTCTTACTGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation