Incidental Mutation 'R6925:Slfn8'
ID |
541109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn8
|
Ensembl Gene |
ENSMUSG00000035208 |
Gene Name |
schlafen 8 |
Synonyms |
|
MMRRC Submission |
045043-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6925 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
83002158-83020810 bp(-) (GRCm38) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 83013417 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 382
(Y382*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
AlphaFold |
B1ARD8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038141
AA Change: Y382*
|
SMART Domains |
Protein: ENSMUSP00000040060 Gene: ENSMUSG00000035208 AA Change: Y382*
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 null
Transcript: ENSMUST00000092838
AA Change: Y382*
|
SMART Domains |
Protein: ENSMUSP00000090513 Gene: ENSMUSG00000035208 AA Change: Y382*
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 null
Transcript: ENSMUST00000108152
AA Change: Y382*
|
SMART Domains |
Protein: ENSMUSP00000103787 Gene: ENSMUSG00000035208 AA Change: Y382*
Domain | Start | End | E-Value | Type |
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000130822
AA Change: Y382*
|
SMART Domains |
Protein: ENSMUSP00000114417 Gene: ENSMUSG00000035208 AA Change: Y382*
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 null
Transcript: ENSMUST00000215239
AA Change: Y382*
|
Meta Mutation Damage Score |
0.9645  |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (91/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430419D17Rik |
A |
G |
7: 131,222,707 (GRCm38) |
Q177R |
possibly damaging |
Het |
Acat1 |
A |
T |
9: 53,592,029 (GRCm38) |
V170E |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,760,720 (GRCm38) |
I902F |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 30,051,637 (GRCm38) |
V1697A |
probably benign |
Het |
Ccdc14 |
T |
A |
16: 34,690,749 (GRCm38) |
F31Y |
probably benign |
Het |
Ccdc17 |
T |
A |
4: 116,598,210 (GRCm38) |
V250E |
probably damaging |
Het |
Cct7 |
A |
G |
6: 85,459,182 (GRCm38) |
N25S |
probably damaging |
Het |
Cep19 |
G |
C |
16: 32,103,942 (GRCm38) |
G9R |
probably damaging |
Het |
Ces5a |
A |
T |
8: 93,523,057 (GRCm38) |
|
probably null |
Het |
Chd1l |
T |
G |
3: 97,582,826 (GRCm38) |
E471A |
probably damaging |
Het |
Chd6 |
A |
G |
2: 161,013,127 (GRCm38) |
I787T |
probably damaging |
Het |
Cntnap5c |
A |
C |
17: 58,395,266 (GRCm38) |
T1194P |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,816,002 (GRCm38) |
M208L |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,628,674 (GRCm38) |
|
probably null |
Het |
Csrnp2 |
T |
C |
15: 100,481,958 (GRCm38) |
K484R |
probably benign |
Het |
Cyp2c39 |
T |
A |
19: 39,513,195 (GRCm38) |
V64E |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,998,132 (GRCm38) |
K300E |
probably benign |
Het |
Ddx56 |
T |
C |
11: 6,263,980 (GRCm38) |
E393G |
probably damaging |
Het |
Diaph1 |
A |
C |
18: 37,853,679 (GRCm38) |
Y1084* |
probably null |
Het |
Disp1 |
A |
T |
1: 183,086,478 (GRCm38) |
F1459L |
probably benign |
Het |
Dnajc8 |
G |
A |
4: 132,544,113 (GRCm38) |
A80T |
probably damaging |
Het |
Elfn1 |
T |
A |
5: 139,971,685 (GRCm38) |
M148K |
probably benign |
Het |
Emcn |
T |
A |
3: 137,419,002 (GRCm38) |
I154N |
probably damaging |
Het |
Enah |
T |
A |
1: 181,905,899 (GRCm38) |
|
probably null |
Het |
Enah |
C |
G |
1: 181,905,898 (GRCm38) |
|
probably null |
Het |
Ep300 |
C |
A |
15: 81,649,981 (GRCm38) |
Q2080K |
probably benign |
Het |
Epha2 |
T |
A |
4: 141,308,757 (GRCm38) |
M168K |
probably benign |
Het |
Ercc6 |
T |
A |
14: 32,562,608 (GRCm38) |
I776N |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,372,486 (GRCm38) |
N340Y |
probably damaging |
Het |
Fat4 |
G |
T |
3: 38,996,204 (GRCm38) |
|
probably null |
Het |
G3bp1 |
A |
G |
11: 55,497,960 (GRCm38) |
R333G |
possibly damaging |
Het |
Gm3604 |
A |
G |
13: 62,369,390 (GRCm38) |
F385L |
probably benign |
Het |
Gm5800 |
T |
C |
14: 51,713,700 (GRCm38) |
I147M |
possibly damaging |
Het |
Hipk1 |
A |
G |
3: 103,778,245 (GRCm38) |
F18S |
unknown |
Het |
Ighv3-8 |
A |
T |
12: 114,322,330 (GRCm38) |
C131S |
probably benign |
Het |
Il23r |
T |
G |
6: 67,423,493 (GRCm38) |
T618P |
probably damaging |
Het |
Il31ra |
G |
A |
13: 112,527,529 (GRCm38) |
T538I |
possibly damaging |
Het |
Kcns2 |
A |
G |
15: 34,839,913 (GRCm38) |
D474G |
unknown |
Het |
Klc4 |
T |
C |
17: 46,636,229 (GRCm38) |
T407A |
possibly damaging |
Het |
Klra5 |
C |
T |
6: 129,911,457 (GRCm38) |
S2N |
probably benign |
Het |
Krt10 |
T |
C |
11: 99,388,851 (GRCm38) |
Y161C |
probably damaging |
Het |
Kxd1 |
A |
T |
8: 70,523,278 (GRCm38) |
M1K |
probably null |
Het |
Lgals1 |
A |
C |
15: 78,928,040 (GRCm38) |
D27A |
possibly damaging |
Het |
Lgr5 |
T |
C |
10: 115,466,346 (GRCm38) |
S308G |
probably benign |
Het |
Lrp1 |
G |
A |
10: 127,556,988 (GRCm38) |
S2736L |
probably benign |
Het |
Lrpap1 |
G |
T |
5: 35,102,536 (GRCm38) |
H73N |
probably benign |
Het |
Mcpt1 |
C |
A |
14: 56,019,065 (GRCm38) |
T86K |
probably damaging |
Het |
Megf6 |
A |
T |
4: 154,254,587 (GRCm38) |
D527V |
probably damaging |
Het |
Mical3 |
A |
T |
6: 120,959,390 (GRCm38) |
S1392T |
probably benign |
Het |
Mmp2 |
A |
T |
8: 92,839,382 (GRCm38) |
D437V |
probably damaging |
Het |
Mob4 |
T |
A |
1: 55,152,722 (GRCm38) |
Y166* |
probably null |
Het |
Mrap2 |
G |
A |
9: 87,182,474 (GRCm38) |
M89I |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,881,787 (GRCm38) |
A1155T |
probably damaging |
Het |
Myh2 |
G |
T |
11: 67,193,218 (GRCm38) |
A1556S |
probably benign |
Het |
Nfatc3 |
A |
G |
8: 106,119,322 (GRCm38) |
D1028G |
probably benign |
Het |
Ngef |
T |
G |
1: 87,503,263 (GRCm38) |
|
probably null |
Het |
Nlrp1a |
A |
T |
11: 71,092,513 (GRCm38) |
L1209Q |
probably null |
Het |
Npr2 |
C |
T |
4: 43,647,553 (GRCm38) |
R819C |
probably damaging |
Het |
Nsd2 |
A |
T |
5: 33,879,110 (GRCm38) |
D646V |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,277,072 (GRCm38) |
H252R |
probably damaging |
Het |
Olfr267 |
A |
T |
4: 58,785,647 (GRCm38) |
I25N |
possibly damaging |
Het |
Olfr447 |
T |
A |
6: 42,911,857 (GRCm38) |
C111* |
probably null |
Het |
Olfr642 |
C |
T |
7: 104,049,740 (GRCm38) |
V205I |
probably benign |
Het |
Olfr951 |
A |
T |
9: 39,393,860 (GRCm38) |
Q20L |
probably benign |
Het |
Olfr951 |
G |
T |
9: 39,393,861 (GRCm38) |
Q20H |
probably benign |
Het |
Pcdhga2 |
A |
T |
18: 37,670,585 (GRCm38) |
D494V |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,813,747 (GRCm38) |
E617G |
probably damaging |
Het |
Pdc |
T |
C |
1: 150,333,180 (GRCm38) |
I138T |
probably damaging |
Het |
Phc2 |
T |
A |
4: 128,748,134 (GRCm38) |
S750T |
probably damaging |
Het |
Pkd2l1 |
T |
A |
19: 44,191,508 (GRCm38) |
N88Y |
possibly damaging |
Het |
Plcl1 |
C |
T |
1: 55,406,598 (GRCm38) |
R71* |
probably null |
Het |
Prag1 |
C |
A |
8: 36,103,894 (GRCm38) |
L544M |
probably damaging |
Het |
Prkg2 |
A |
G |
5: 98,966,510 (GRCm38) |
|
probably null |
Het |
Psd2 |
G |
A |
18: 35,979,711 (GRCm38) |
S153N |
probably damaging |
Het |
Rab11fip1 |
A |
T |
8: 27,152,972 (GRCm38) |
S600T |
probably damaging |
Het |
Rbms1 |
T |
G |
2: 60,762,304 (GRCm38) |
T222P |
probably benign |
Het |
Socs4 |
T |
A |
14: 47,289,738 (GRCm38) |
C43* |
probably null |
Het |
Sorl1 |
T |
A |
9: 42,033,626 (GRCm38) |
T868S |
probably damaging |
Het |
St6gal1 |
A |
G |
16: 23,356,213 (GRCm38) |
Y267C |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,126,682 (GRCm38) |
V6879A |
probably benign |
Het |
Syne2 |
C |
A |
12: 75,854,132 (GRCm38) |
H22N |
possibly damaging |
Het |
Tmeff2 |
T |
A |
1: 50,928,021 (GRCm38) |
L25Q |
probably damaging |
Het |
Tmprss11g |
G |
T |
5: 86,487,426 (GRCm38) |
D396E |
probably benign |
Het |
Tmprss11g |
T |
A |
5: 86,487,436 (GRCm38) |
H393L |
probably benign |
Het |
Vmn2r23 |
A |
G |
6: 123,704,553 (GRCm38) |
E140G |
probably damaging |
Het |
Wapl |
T |
C |
14: 34,677,363 (GRCm38) |
S130P |
probably benign |
Het |
Zeb2 |
T |
A |
2: 44,994,529 (GRCm38) |
K982M |
probably damaging |
Het |
Zfhx3 |
C |
G |
8: 108,956,821 (GRCm38) |
H3631D |
unknown |
Het |
Zfp719 |
T |
C |
7: 43,590,706 (GRCm38) |
S573P |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,613,542 (GRCm38) |
C237S |
possibly 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 |
R4939:Slfn8
|
UTSW |
11 |
83,003,285 (GRCm38) |
missense |
probably benign |
0.01 |
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 |
|
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'- TCAGACTTTGGTAGCCCCATG -3'
(R):5'- TCTGGATCAAGTTTCAGCTTCC -3'
Sequencing Primer
(F):5'- GCCCCATGCTAGATGACTTCAAG -3'
(R):5'- AAGTTTCAGCTTCCTTTCTTTGTGG -3'
|
Posted On |
2018-11-28 |