Incidental Mutation 'R6163:Slfn8'
| ID |
489991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6163 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82892984-82911636 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 82894690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 408
(*408W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038141
AA Change: T650A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: T650A
| 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 damaging
Transcript: ENSMUST00000092838
AA Change: T650A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: T650A
| 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: *408W
|
| SMART Domains |
Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: *408W
| 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 null
Transcript: ENSMUST00000215239
AA Change: *408W
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,982,098 (GRCm39) |
Q228* |
probably null |
Het |
| Asic5 |
A |
G |
3: 81,913,833 (GRCm39) |
N169S |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,004,593 (GRCm39) |
L374H |
probably benign |
Het |
| Birc2 |
G |
A |
9: 7,819,036 (GRCm39) |
T544I |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Cc2d2b |
C |
T |
19: 40,744,950 (GRCm39) |
T23I |
probably benign |
Het |
| Ccdc137 |
G |
T |
11: 120,350,927 (GRCm39) |
R108L |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,974,764 (GRCm39) |
I2308T |
probably damaging |
Het |
| Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
| Cpt1b |
T |
C |
15: 89,308,620 (GRCm39) |
T103A |
probably benign |
Het |
| Cpvl |
C |
A |
6: 53,850,503 (GRCm39) |
V445F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,950 (GRCm39) |
S303P |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,657,761 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cyp51 |
T |
A |
5: 4,150,199 (GRCm39) |
I175F |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,723,828 (GRCm39) |
P695S |
possibly damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,896,641 (GRCm39) |
Q1039L |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,493,926 (GRCm39) |
L1694P |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,411,729 (GRCm39) |
Q298* |
probably null |
Het |
| Dsg2 |
G |
T |
18: 20,731,726 (GRCm39) |
|
probably null |
Het |
| Esr2 |
A |
C |
12: 76,168,643 (GRCm39) |
V522G |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,494,962 (GRCm39) |
H262L |
probably benign |
Het |
| Glb1l |
T |
A |
1: 75,178,051 (GRCm39) |
M373L |
probably benign |
Het |
| Gls |
A |
G |
1: 52,254,735 (GRCm39) |
S247P |
probably benign |
Het |
| Gm37240 |
T |
A |
3: 84,423,092 (GRCm39) |
E213D |
probably damaging |
Het |
| Gmip |
T |
A |
8: 70,270,022 (GRCm39) |
V675E |
probably benign |
Het |
| Grb10 |
C |
A |
11: 11,893,932 (GRCm39) |
E330* |
probably null |
Het |
| H2ac13 |
A |
T |
13: 21,900,859 (GRCm39) |
N90Y |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,005,736 (GRCm39) |
K778R |
probably damaging |
Het |
| Ighv1-26 |
T |
C |
12: 114,752,416 (GRCm39) |
S4G |
probably benign |
Het |
| Igkv3-3 |
T |
A |
6: 70,664,257 (GRCm39) |
V33E |
possibly damaging |
Het |
| Itga2 |
C |
A |
13: 115,002,726 (GRCm39) |
G588V |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,365,245 (GRCm39) |
H58Y |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,083,827 (GRCm39) |
D2365E |
possibly damaging |
Het |
| Limk1 |
T |
C |
5: 134,686,809 (GRCm39) |
Y518C |
probably damaging |
Het |
| Marchf6 |
G |
C |
15: 31,465,497 (GRCm39) |
H802Q |
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,268,126 (GRCm39) |
S26P |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,716,040 (GRCm39) |
L2074Q |
probably damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,921,793 (GRCm39) |
E174G |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,686,326 (GRCm39) |
H860R |
probably benign |
Het |
| Neurod1 |
A |
G |
2: 79,284,505 (GRCm39) |
F293L |
probably benign |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,963,131 (GRCm39) |
A905E |
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,985,592 (GRCm39) |
I4N |
possibly damaging |
Het |
| Or1x6 |
T |
A |
11: 50,939,595 (GRCm39) |
Y220* |
probably null |
Het |
| Or5b12b |
A |
C |
19: 12,861,472 (GRCm39) |
T76P |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,024 (GRCm39) |
I297T |
probably benign |
Het |
| Otop1 |
C |
A |
5: 38,445,234 (GRCm39) |
|
probably null |
Het |
| Otp |
A |
G |
13: 95,012,288 (GRCm39) |
H4R |
probably damaging |
Het |
| P4htm |
A |
C |
9: 108,459,150 (GRCm39) |
Y261D |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,914,369 (GRCm39) |
R1419W |
probably damaging |
Het |
| Pramel20 |
A |
G |
4: 143,298,605 (GRCm39) |
K183E |
probably damaging |
Het |
| Prkd3 |
C |
A |
17: 79,273,784 (GRCm39) |
D491Y |
possibly damaging |
Het |
| Prr11 |
A |
C |
11: 86,994,454 (GRCm39) |
L64R |
possibly damaging |
Het |
| Pygo1 |
G |
T |
9: 72,851,980 (GRCm39) |
A56S |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,404,470 (GRCm39) |
T189A |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,349,254 (GRCm39) |
H3784L |
possibly damaging |
Het |
| Rps6ka5 |
T |
G |
12: 100,562,179 (GRCm39) |
|
probably null |
Het |
| Slco2b1 |
T |
A |
7: 99,338,106 (GRCm39) |
I93F |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,109,443 (GRCm39) |
E51* |
probably null |
Het |
| Ssc5d |
T |
A |
7: 4,930,253 (GRCm39) |
H111Q |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,280,981 (GRCm39) |
N41D |
probably benign |
Het |
| Taar8c |
G |
A |
10: 23,977,116 (GRCm39) |
T232I |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,882,710 (GRCm39) |
E2G |
possibly damaging |
Het |
| Tff2 |
T |
C |
17: 31,363,152 (GRCm39) |
E24G |
probably benign |
Het |
| Tjp2 |
C |
A |
19: 24,103,068 (GRCm39) |
|
probably null |
Het |
| Tnfrsf1b |
A |
T |
4: 144,946,477 (GRCm39) |
D311E |
probably benign |
Het |
| Usp15 |
G |
T |
10: 123,004,210 (GRCm39) |
N181K |
probably damaging |
Het |
| Vmn1r175 |
T |
G |
7: 23,508,591 (GRCm39) |
E12A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,773 (GRCm39) |
S302P |
probably damaging |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,825 (GRCm39) |
M690T |
probably benign |
Het |
| Wee1 |
T |
A |
7: 109,734,858 (GRCm39) |
H465Q |
probably damaging |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
Het |
|
| Other mutations in Slfn8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Slfn8
|
APN |
11 |
82,904,310 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01418:Slfn8
|
APN |
11 |
82,895,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01620:Slfn8
|
APN |
11 |
82,895,059 (GRCm39) |
nonsense |
probably null |
|
|
IGL01875:Slfn8
|
APN |
11 |
82,894,905 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01896:Slfn8
|
APN |
11 |
82,894,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01929:Slfn8
|
APN |
11 |
82,894,231 (GRCm39) |
nonsense |
probably null |
|
|
IGL02111:Slfn8
|
APN |
11 |
82,895,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02136:Slfn8
|
APN |
11 |
82,894,291 (GRCm39) |
nonsense |
probably null |
|
|
IGL02165:Slfn8
|
APN |
11 |
82,908,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02645:Slfn8
|
APN |
11 |
82,894,380 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02682:Slfn8
|
APN |
11 |
82,894,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02689:Slfn8
|
APN |
11 |
82,907,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Slfn8
|
APN |
11 |
82,894,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03037:Slfn8
|
APN |
11 |
82,894,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03185:Slfn8
|
APN |
11 |
82,908,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03243:Slfn8
|
APN |
11 |
82,894,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03286:Slfn8
|
APN |
11 |
82,904,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
seven_dwarfs
|
UTSW |
11 |
82,894,160 (GRCm39) |
missense |
probably benign |
0.09 |
|
vanwinkle
|
UTSW |
11 |
82,908,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Slfn8
|
UTSW |
11 |
82,894,169 (GRCm39) |
nonsense |
probably null |
|
|
R0368:Slfn8
|
UTSW |
11 |
82,907,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Slfn8
|
UTSW |
11 |
82,895,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Slfn8
|
UTSW |
11 |
82,894,647 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0894:Slfn8
|
UTSW |
11 |
82,894,407 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1006:Slfn8
|
UTSW |
11 |
82,894,337 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1181:Slfn8
|
UTSW |
11 |
82,907,571 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1187:Slfn8
|
UTSW |
11 |
82,894,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Slfn8
|
UTSW |
11 |
82,894,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1646:Slfn8
|
UTSW |
11 |
82,907,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Slfn8
|
UTSW |
11 |
82,894,447 (GRCm39) |
nonsense |
probably null |
|
|
R2005:Slfn8
|
UTSW |
11 |
82,894,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2363:Slfn8
|
UTSW |
11 |
82,894,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Slfn8
|
UTSW |
11 |
82,908,280 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3890:Slfn8
|
UTSW |
11 |
82,895,270 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3917:Slfn8
|
UTSW |
11 |
82,907,819 (GRCm39) |
nonsense |
probably null |
|
|
R4559:Slfn8
|
UTSW |
11 |
82,895,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Slfn8
|
UTSW |
11 |
82,908,332 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4767:Slfn8
|
UTSW |
11 |
82,894,023 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4773:Slfn8
|
UTSW |
11 |
82,908,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Slfn8
|
UTSW |
11 |
82,908,540 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4916:Slfn8
|
UTSW |
11 |
82,907,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Slfn8
|
UTSW |
11 |
82,894,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5107:Slfn8
|
UTSW |
11 |
82,907,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5130:Slfn8
|
UTSW |
11 |
82,894,647 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5165:Slfn8
|
UTSW |
11 |
82,907,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5238:Slfn8
|
UTSW |
11 |
82,904,214 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5282:Slfn8
|
UTSW |
11 |
82,908,550 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5311:Slfn8
|
UTSW |
11 |
82,894,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Slfn8
|
UTSW |
11 |
82,895,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5617:Slfn8
|
UTSW |
11 |
82,895,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5782:Slfn8
|
UTSW |
11 |
82,907,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5823:Slfn8
|
UTSW |
11 |
82,907,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5886:Slfn8
|
UTSW |
11 |
82,894,160 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5933:Slfn8
|
UTSW |
11 |
82,894,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6151:Slfn8
|
UTSW |
11 |
82,908,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Slfn8
|
UTSW |
11 |
82,907,626 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6419:Slfn8
|
UTSW |
11 |
82,894,881 (GRCm39) |
splice site |
probably null |
|
|
R6925:Slfn8
|
UTSW |
11 |
82,904,243 (GRCm39) |
nonsense |
probably null |
|
|
R7065:Slfn8
|
UTSW |
11 |
82,907,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7380:Slfn8
|
UTSW |
11 |
82,894,566 (GRCm39) |
missense |
not run |
|
|
R7414:Slfn8
|
UTSW |
11 |
82,907,618 (GRCm39) |
nonsense |
probably null |
|
|
R7819:Slfn8
|
UTSW |
11 |
82,895,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Slfn8
|
UTSW |
11 |
82,895,441 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8517:Slfn8
|
UTSW |
11 |
82,894,968 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8804:Slfn8
|
UTSW |
11 |
82,907,639 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8814:Slfn8
|
UTSW |
11 |
82,907,505 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9069:Slfn8
|
UTSW |
11 |
82,907,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Slfn8
|
UTSW |
11 |
82,894,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Slfn8
|
UTSW |
11 |
82,908,532 (GRCm39) |
missense |
probably benign |
|
|
R9678:Slfn8
|
UTSW |
11 |
82,907,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9708:Slfn8
|
UTSW |
11 |
82,894,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9764:Slfn8
|
UTSW |
11 |
82,907,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Slfn8
|
UTSW |
11 |
82,907,754 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Slfn8
|
UTSW |
11 |
82,894,359 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTCTCCTTCAAATGACTGG -3'
(R):5'- ACTTCATCCGGTAAGTGTTTGG -3'
Sequencing Primer
(F):5'- CCTTCAAATGACTGGTCTGAAAATAG -3'
(R):5'- CATCCGGTAAGTGTTTGGATCTTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation