Incidental Mutation 'R3975:Smc6'
| ID |
312610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc6
|
| Ensembl Gene |
ENSMUSG00000020608 |
| Gene Name |
structural maintenance of chromosomes 6 |
| Synonyms |
3830418C19Rik, Smc6l1, 2810489L22Rik |
| MMRRC Submission |
040939-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
11315887-11369786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11324075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 73
(F73L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020931]
[ENSMUST00000217906]
[ENSMUST00000218022]
[ENSMUST00000218866]
[ENSMUST00000219776]
|
| AlphaFold |
Q924W5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020931
AA Change: F73L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: F73L
| 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 |
probably benign
Transcript: ENSMUST00000217906
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218022
AA Change: F73L
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218866
AA Change: F73L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219776
|
| Meta Mutation Damage Score |
0.7747 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (59/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
A |
1: 63,586,888 (GRCm39) |
Y416* |
probably null |
Het |
| Akr1b10 |
G |
T |
6: 34,369,431 (GRCm39) |
|
probably null |
Het |
| Arap2 |
G |
T |
5: 62,906,237 (GRCm39) |
P261T |
possibly damaging |
Het |
| Bckdha |
C |
A |
7: 25,330,858 (GRCm39) |
D53Y |
probably damaging |
Het |
| Bfsp2 |
A |
G |
9: 103,357,271 (GRCm39) |
V52A |
probably benign |
Het |
| Bola3 |
T |
C |
6: 83,328,249 (GRCm39) |
L45P |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,255,134 (GRCm39) |
|
probably null |
Het |
| Ccn6 |
C |
G |
10: 39,031,094 (GRCm39) |
C143S |
probably damaging |
Het |
| Ceacam16 |
C |
A |
7: 19,587,537 (GRCm39) |
Q410H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,940,986 (GRCm39) |
|
probably null |
Het |
| Cenpe |
T |
C |
3: 134,944,233 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
T |
3: 144,738,400 (GRCm39) |
V36D |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,948,812 (GRCm39) |
S1155T |
probably benign |
Het |
| Crb2 |
C |
A |
2: 37,683,680 (GRCm39) |
P1061T |
possibly damaging |
Het |
| Crot |
T |
C |
5: 9,027,541 (GRCm39) |
T264A |
probably benign |
Het |
| Cyp51 |
C |
T |
5: 4,141,877 (GRCm39) |
G346S |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,098,975 (GRCm39) |
S2027P |
possibly damaging |
Het |
| Fbh1 |
T |
C |
2: 11,772,021 (GRCm39) |
H220R |
possibly damaging |
Het |
| Gdf2 |
T |
A |
14: 33,666,791 (GRCm39) |
V171D |
probably damaging |
Het |
| Golgb1 |
T |
G |
16: 36,738,933 (GRCm39) |
V2424G |
probably damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,428,182 (GRCm39) |
|
probably null |
Het |
| Gpx6 |
C |
A |
13: 21,501,828 (GRCm39) |
S150Y |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,522,247 (GRCm39) |
N672S |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 24,053,815 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
C |
3: 86,258,562 (GRCm39) |
F1350L |
probably damaging |
Het |
| Nat8f4 |
A |
G |
6: 85,878,052 (GRCm39) |
V157A |
possibly damaging |
Het |
| Niban1 |
T |
C |
1: 151,525,086 (GRCm39) |
Y164H |
probably damaging |
Het |
| Nt5dc2 |
T |
C |
14: 30,860,832 (GRCm39) |
S439P |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,276,992 (GRCm39) |
R234G |
probably damaging |
Het |
| Or2n1 |
A |
G |
17: 38,486,386 (GRCm39) |
N137S |
probably benign |
Het |
| Or5t18 |
G |
A |
2: 86,636,804 (GRCm39) |
P180S |
possibly damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,887 (GRCm39) |
H65L |
probably damaging |
Het |
| Orm3 |
A |
T |
4: 63,274,395 (GRCm39) |
|
probably null |
Het |
| Otof |
A |
G |
5: 30,528,056 (GRCm39) |
L1929P |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,069,164 (GRCm39) |
C111F |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,737,374 (GRCm39) |
M905K |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
| Rara |
T |
G |
11: 98,861,395 (GRCm39) |
I236S |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,200,364 (GRCm39) |
S1379T |
possibly damaging |
Het |
| Rnps1-ps |
A |
T |
6: 7,983,149 (GRCm39) |
|
noncoding transcript |
Het |
| Rp1l1 |
T |
A |
14: 64,267,758 (GRCm39) |
Y1115N |
probably damaging |
Het |
| Rpe65 |
A |
T |
3: 159,310,222 (GRCm39) |
N135I |
probably damaging |
Het |
| Rps6 |
A |
G |
4: 86,775,050 (GRCm39) |
V18A |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,166,121 (GRCm39) |
S385P |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,850,968 (GRCm39) |
T577A |
probably damaging |
Het |
| Slx1b |
G |
A |
7: 126,290,979 (GRCm39) |
L239F |
probably damaging |
Het |
| Smad4 |
G |
T |
18: 73,810,807 (GRCm39) |
T59K |
possibly damaging |
Het |
| Smad6 |
A |
G |
9: 63,928,212 (GRCm39) |
V32A |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 46,225,747 (GRCm39) |
|
probably null |
Het |
| Svbp |
T |
A |
4: 119,053,090 (GRCm39) |
F32I |
probably benign |
Het |
| Tap1 |
C |
A |
17: 34,408,541 (GRCm39) |
|
probably benign |
Het |
| Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
| Thrb |
A |
G |
14: 18,033,456 (GRCm38) |
I406M |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,706,997 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
C |
A |
17: 31,203,763 (GRCm39) |
Y525* |
probably null |
Het |
| Vmn2r70 |
C |
T |
7: 85,208,540 (GRCm39) |
V646I |
probably benign |
Het |
| Wipf1 |
C |
T |
2: 73,267,513 (GRCm39) |
G295D |
probably benign |
Het |
| Zim1 |
A |
T |
7: 6,680,129 (GRCm39) |
H511Q |
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 |
|
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'- GCCGTTAAAGTTACTATTGCACAC -3'
(R):5'- AGATGCATGCAGACAGTCATATAC -3'
Sequencing Primer
(F):5'- ACTGTTGGTCTGTCAGAT -3'
(R):5'- GCATGCAGACAGTCATATACATAAAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation