Incidental Mutation 'R4939:Slfn8'
| ID |
382939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| MMRRC Submission |
042538-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83002158-83020810 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83003285 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 843
(A843T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038141
AA Change: A843T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: A843T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
1.6e-18 |
PFAM |
|
Pfam:DUF2075
|
592 |
766 |
5.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092838
AA Change: A843T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: A843T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
205 |
341 |
1.4e-17 |
PFAM |
|
Pfam:DUF2075
|
592 |
767 |
2.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108152
|
| SMART Domains |
Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130822
|
| SMART Domains |
Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
3.7e-19 |
PFAM |
|
SCOP:d1ly1a_
|
593 |
625 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131883
|
| SMART Domains |
Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
27 |
163 |
1.8e-15 |
PFAM |
|
SCOP:d1ly1a_
|
370 |
402 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215239
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,243,725 |
Y365F |
possibly damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,450,116 |
M585V |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,508,050 |
V1572A |
probably benign |
Het |
| C1ql4 |
A |
T |
15: 99,087,640 |
M30K |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,992,157 |
|
probably null |
Het |
| Cdk6 |
A |
T |
5: 3,344,377 |
D4V |
probably null |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,488,230 |
|
probably benign |
Het |
| Clic4 |
T |
C |
4: 135,223,541 |
E113G |
probably benign |
Het |
| Creld1 |
C |
A |
6: 113,488,179 |
H122Q |
probably benign |
Het |
| Cyp4a29 |
G |
A |
4: 115,247,676 |
|
probably null |
Het |
| Dnaaf3 |
A |
T |
7: 4,527,145 |
S246R |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,891,524 |
T3925S |
probably damaging |
Het |
| Dnajc21 |
T |
A |
15: 10,449,597 |
D446V |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,122,400 |
Y629F |
probably damaging |
Het |
| E2f8 |
A |
T |
7: 48,872,138 |
N405K |
probably benign |
Het |
| Flg |
A |
G |
3: 93,279,847 |
N202S |
probably benign |
Het |
| Glyatl3 |
A |
G |
17: 40,910,023 |
|
probably null |
Het |
| Gm10696 |
A |
T |
3: 94,176,233 |
Y90* |
probably null |
Het |
| Gm38999 |
A |
G |
7: 43,428,461 |
T63A |
possibly damaging |
Het |
| Gm4981 |
T |
C |
10: 58,235,603 |
N263S |
probably benign |
Het |
| Grap |
A |
G |
11: 61,660,298 |
Y52C |
probably damaging |
Het |
| Haus2 |
T |
A |
2: 120,619,036 |
I187K |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 78,762,260 |
E1686G |
probably benign |
Het |
| Herc2 |
A |
G |
7: 56,206,736 |
D3944G |
probably damaging |
Het |
| Hexdc |
A |
T |
11: 121,207,716 |
M9L |
probably benign |
Het |
| Hoxa3 |
T |
C |
6: 52,170,676 |
|
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,508,031 |
I126F |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,440,558 |
C123* |
probably null |
Het |
| Jmjd1c |
T |
A |
10: 67,246,137 |
N2346K |
possibly damaging |
Het |
| Kctd9 |
A |
G |
14: 67,729,686 |
Y37C |
probably damaging |
Het |
| Kmt5b |
A |
C |
19: 3,815,245 |
S747R |
possibly damaging |
Het |
| Krt26 |
T |
C |
11: 99,334,696 |
M320V |
probably benign |
Het |
| Lama1 |
T |
G |
17: 67,737,475 |
V123G |
possibly damaging |
Het |
| Lamc2 |
T |
C |
1: 153,126,836 |
D1103G |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,733,438 |
K71I |
possibly damaging |
Het |
| Llgl1 |
A |
T |
11: 60,709,979 |
|
probably null |
Het |
| Mcoln2 |
A |
T |
3: 146,192,241 |
H39L |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,239,507 |
T315S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 27,063,869 |
|
probably null |
Het |
| Nlrp9b |
G |
T |
7: 20,024,496 |
V553F |
probably damaging |
Het |
| Nubpl |
A |
G |
12: 52,181,095 |
N129S |
probably damaging |
Het |
| Nup214 |
C |
A |
2: 31,983,159 |
T255K |
probably benign |
Het |
| Olfr1390 |
A |
G |
11: 49,340,549 |
T6A |
probably benign |
Het |
| Olfr1469 |
T |
A |
19: 13,410,855 |
N95K |
probably benign |
Het |
| Olfr218 |
T |
C |
1: 173,203,463 |
Y36H |
possibly damaging |
Het |
| Olfr325 |
G |
T |
11: 58,581,211 |
M122I |
probably damaging |
Het |
| Olfr464 |
G |
T |
11: 87,914,124 |
P261T |
probably damaging |
Het |
| Olfr619 |
T |
C |
7: 103,604,251 |
V199A |
probably benign |
Het |
| Orc3 |
G |
A |
4: 34,593,126 |
Q256* |
probably null |
Het |
| Pbrm1 |
A |
G |
14: 31,061,623 |
M566V |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,421,497 |
I357V |
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,820,283 |
I484T |
possibly damaging |
Het |
| Plvap |
A |
G |
8: 71,511,439 |
V93A |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,165,762 |
Y1586C |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,328,079 |
L196Q |
possibly damaging |
Het |
| Ptpn13 |
T |
G |
5: 103,517,469 |
|
probably null |
Het |
| Ranbp17 |
T |
C |
11: 33,219,223 |
N997S |
probably benign |
Het |
| Rpap2 |
G |
T |
5: 107,603,625 |
|
probably null |
Het |
| Rrm1 |
T |
C |
7: 102,466,924 |
V683A |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,483,039 |
|
probably null |
Het |
| Sh3pxd2a |
A |
G |
19: 47,278,404 |
Y277H |
probably damaging |
Het |
| Shank1 |
C |
T |
7: 44,326,162 |
P477S |
unknown |
Het |
| Shtn1 |
T |
C |
19: 59,022,201 |
E278G |
probably benign |
Het |
| Skap2 |
T |
A |
6: 51,922,323 |
I109F |
possibly damaging |
Het |
| Skiv2l2 |
T |
C |
13: 112,909,892 |
D308G |
possibly damaging |
Het |
| Slc28a3 |
A |
C |
13: 58,558,581 |
I615M |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,684,868 |
L780P |
probably damaging |
Het |
| Slc5a4b |
T |
C |
10: 76,081,467 |
E245G |
probably benign |
Het |
| Sncaip |
A |
T |
18: 52,907,263 |
Q843L |
possibly damaging |
Het |
| Spidr |
T |
A |
16: 16,140,746 |
K51* |
probably null |
Het |
| Tas2r123 |
T |
C |
6: 132,847,845 |
V235A |
probably benign |
Het |
| Tgfbr3 |
T |
C |
5: 107,130,469 |
D757G |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 127,796,075 |
V490D |
probably damaging |
Het |
| Top2a |
T |
A |
11: 99,010,092 |
H557L |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,375,191 |
I328T |
probably benign |
Het |
| Trappc11 |
G |
A |
8: 47,519,665 |
A291V |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 99,037,954 |
Y432C |
probably damaging |
Het |
| Utp11 |
T |
G |
4: 124,683,250 |
R109S |
possibly damaging |
Het |
| Vmn1r159 |
T |
G |
7: 22,842,891 |
T239P |
probably damaging |
Het |
| Vwce |
A |
T |
19: 10,645,050 |
N239Y |
probably damaging |
Het |
| Yes1 |
T |
C |
5: 32,645,113 |
|
probably null |
Het |
| Zfand6 |
A |
C |
7: 84,615,822 |
*224G |
probably null |
Het |
| Zfp408 |
A |
T |
2: 91,645,105 |
I668N |
probably damaging |
Het |
| Zfp647 |
TGCACG |
TGCACGCACG |
15: 76,911,044 |
|
probably null |
Het |
| Zfp946 |
T |
C |
17: 22,455,437 |
F391L |
probably damaging |
Het |
|
| Other mutations in Slfn8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Slfn8
|
APN |
11 |
83,013,484 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL01418:Slfn8
|
APN |
11 |
83,004,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01620:Slfn8
|
APN |
11 |
83,004,233 (GRCm38) |
nonsense |
probably null |
|
|
IGL01875:Slfn8
|
APN |
11 |
83,004,079 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL01896:Slfn8
|
APN |
11 |
83,003,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01929:Slfn8
|
APN |
11 |
83,003,405 (GRCm38) |
nonsense |
probably null |
|
|
IGL02111:Slfn8
|
APN |
11 |
83,004,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02136:Slfn8
|
APN |
11 |
83,003,465 (GRCm38) |
nonsense |
probably null |
|
|
IGL02165:Slfn8
|
APN |
11 |
83,017,196 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02645:Slfn8
|
APN |
11 |
83,003,554 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02682:Slfn8
|
APN |
11 |
83,003,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02689:Slfn8
|
APN |
11 |
83,017,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02948:Slfn8
|
APN |
11 |
83,003,252 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03037:Slfn8
|
APN |
11 |
83,003,252 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03185:Slfn8
|
APN |
11 |
83,017,507 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03243:Slfn8
|
APN |
11 |
83,003,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03286:Slfn8
|
APN |
11 |
83,013,468 (GRCm38) |
missense |
probably damaging |
0.99 |
|
seven_dwarfs
|
UTSW |
11 |
83,003,334 (GRCm38) |
missense |
probably benign |
0.09 |
|
vanwinkle
|
UTSW |
11 |
83,017,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0295:Slfn8
|
UTSW |
11 |
83,003,343 (GRCm38) |
nonsense |
probably null |
|
|
R0368:Slfn8
|
UTSW |
11 |
83,017,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0382:Slfn8
|
UTSW |
11 |
83,004,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0655:Slfn8
|
UTSW |
11 |
83,003,821 (GRCm38) |
missense |
probably benign |
0.35 |
|
R0894:Slfn8
|
UTSW |
11 |
83,003,581 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1006:Slfn8
|
UTSW |
11 |
83,003,511 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R1181:Slfn8
|
UTSW |
11 |
83,016,745 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1187:Slfn8
|
UTSW |
11 |
83,003,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1501:Slfn8
|
UTSW |
11 |
83,003,180 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1646:Slfn8
|
UTSW |
11 |
83,016,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1909:Slfn8
|
UTSW |
11 |
83,003,621 (GRCm38) |
nonsense |
probably null |
|
|
R2005:Slfn8
|
UTSW |
11 |
83,004,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2363:Slfn8
|
UTSW |
11 |
83,004,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3780:Slfn8
|
UTSW |
11 |
83,017,454 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3890:Slfn8
|
UTSW |
11 |
83,004,444 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R3917:Slfn8
|
UTSW |
11 |
83,016,993 (GRCm38) |
nonsense |
probably null |
|
|
R4559:Slfn8
|
UTSW |
11 |
83,004,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Slfn8
|
UTSW |
11 |
83,017,506 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4767:Slfn8
|
UTSW |
11 |
83,003,197 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4773:Slfn8
|
UTSW |
11 |
83,017,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4859:Slfn8
|
UTSW |
11 |
83,017,714 (GRCm38) |
start codon destroyed |
probably null |
0.99 |
|
R4916:Slfn8
|
UTSW |
11 |
83,016,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5107:Slfn8
|
UTSW |
11 |
83,017,150 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5130:Slfn8
|
UTSW |
11 |
83,003,821 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5165:Slfn8
|
UTSW |
11 |
83,017,127 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5238:Slfn8
|
UTSW |
11 |
83,013,388 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5282:Slfn8
|
UTSW |
11 |
83,017,724 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5311:Slfn8
|
UTSW |
11 |
83,004,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5499:Slfn8
|
UTSW |
11 |
83,004,216 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5617:Slfn8
|
UTSW |
11 |
83,004,721 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5782:Slfn8
|
UTSW |
11 |
83,017,041 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5823:Slfn8
|
UTSW |
11 |
83,016,736 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5886:Slfn8
|
UTSW |
11 |
83,003,334 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5933:Slfn8
|
UTSW |
11 |
83,003,335 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6151:Slfn8
|
UTSW |
11 |
83,017,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6163:Slfn8
|
UTSW |
11 |
83,003,864 (GRCm38) |
makesense |
probably null |
|
|
R6191:Slfn8
|
UTSW |
11 |
83,016,800 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6419:Slfn8
|
UTSW |
11 |
83,004,055 (GRCm38) |
splice site |
probably null |
|
|
R6925:Slfn8
|
UTSW |
11 |
83,013,417 (GRCm38) |
nonsense |
probably null |
|
|
R7065:Slfn8
|
UTSW |
11 |
83,016,968 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7380:Slfn8
|
UTSW |
11 |
83,003,740 (GRCm38) |
missense |
not run |
|
|
R7414:Slfn8
|
UTSW |
11 |
83,016,792 (GRCm38) |
nonsense |
probably null |
|
|
R7819:Slfn8
|
UTSW |
11 |
83,004,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8425:Slfn8
|
UTSW |
11 |
83,004,615 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8517:Slfn8
|
UTSW |
11 |
83,004,142 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8804:Slfn8
|
UTSW |
11 |
83,016,813 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8814:Slfn8
|
UTSW |
11 |
83,016,679 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9069:Slfn8
|
UTSW |
11 |
83,017,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9233:Slfn8
|
UTSW |
11 |
83,003,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9457:Slfn8
|
UTSW |
11 |
83,017,706 (GRCm38) |
missense |
probably benign |
|
|
R9678:Slfn8
|
UTSW |
11 |
83,016,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9708:Slfn8
|
UTSW |
11 |
83,003,441 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9764:Slfn8
|
UTSW |
11 |
83,017,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0021:Slfn8
|
UTSW |
11 |
83,016,928 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
Z1177:Slfn8
|
UTSW |
11 |
83,003,533 (GRCm38) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCTCCGTTGAGCTATGC -3'
(R):5'- TCCCAAAGTGTATCAGGCAAC -3'
Sequencing Primer
(F):5'- TTGAGCTATGCCCCTCAGGAG -3'
(R):5'- GAACAATTCACTTTGGAAGACATGG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation