Incidental Mutation 'IGL03286:Slfn8'
ID |
415728 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slfn8
|
Ensembl Gene |
ENSMUSG00000035208 |
Gene Name |
schlafen 8 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
IGL03286
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
82892984-82911636 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82904294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 365
(F365L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
AlphaFold |
B1ARD8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038141
AA Change: F365L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040060 Gene: ENSMUSG00000035208 AA Change: F365L
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: F365L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000090513 Gene: ENSMUSG00000035208 AA Change: F365L
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 |
possibly damaging
Transcript: ENSMUST00000108152
AA Change: F365L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103787 Gene: ENSMUSG00000035208 AA Change: F365L
Domain | Start | End | E-Value | Type |
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130822
AA Change: F365L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114417 Gene: ENSMUSG00000035208 AA Change: F365L
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 |
possibly damaging
Transcript: ENSMUST00000215239
AA Change: F365L
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
G |
A |
1: 58,088,543 (GRCm39) |
G110S |
probably benign |
Het |
Arhgap32 |
T |
C |
9: 32,170,816 (GRCm39) |
S1548P |
probably benign |
Het |
Cacna1s |
A |
G |
1: 136,005,397 (GRCm39) |
D147G |
probably benign |
Het |
Calcoco2 |
A |
G |
11: 95,994,098 (GRCm39) |
V116A |
possibly damaging |
Het |
Chd5 |
A |
T |
4: 152,469,952 (GRCm39) |
M1842L |
probably benign |
Het |
Comt |
T |
C |
16: 18,230,490 (GRCm39) |
D73G |
probably damaging |
Het |
Ctnna1 |
A |
G |
18: 35,308,206 (GRCm39) |
I175M |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,060,068 (GRCm39) |
Y2839N |
probably damaging |
Het |
Dph7 |
T |
A |
2: 24,856,628 (GRCm39) |
H193Q |
probably damaging |
Het |
Eif2b5 |
A |
G |
16: 20,321,012 (GRCm39) |
D258G |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,826,762 (GRCm39) |
D630G |
probably damaging |
Het |
Ext2 |
C |
T |
2: 93,537,617 (GRCm39) |
V590M |
probably damaging |
Het |
Fchsd2 |
T |
C |
7: 100,908,982 (GRCm39) |
|
probably null |
Het |
Gm13272 |
A |
G |
4: 88,698,586 (GRCm39) |
Q167R |
probably benign |
Het |
Gm21834 |
A |
G |
17: 58,048,922 (GRCm39) |
V98A |
possibly damaging |
Het |
Grid1 |
T |
A |
14: 35,242,642 (GRCm39) |
|
probably benign |
Het |
H2-DMa |
T |
A |
17: 34,356,083 (GRCm39) |
|
probably null |
Het |
Ighv5-17 |
T |
G |
12: 113,822,797 (GRCm39) |
E108A |
possibly damaging |
Het |
Invs |
A |
G |
4: 48,382,261 (GRCm39) |
T144A |
probably benign |
Het |
Ipo9 |
A |
G |
1: 135,334,816 (GRCm39) |
|
probably benign |
Het |
Itga4 |
A |
T |
2: 79,119,706 (GRCm39) |
Y504F |
probably damaging |
Het |
Krt5 |
A |
G |
15: 101,615,983 (GRCm39) |
F544S |
unknown |
Het |
Larp4 |
A |
G |
15: 99,883,967 (GRCm39) |
Y67C |
probably damaging |
Het |
Msh2 |
T |
C |
17: 87,990,095 (GRCm39) |
M261T |
possibly damaging |
Het |
Nav1 |
A |
T |
1: 135,382,274 (GRCm39) |
C1367S |
probably benign |
Het |
Nox4 |
T |
A |
7: 87,019,349 (GRCm39) |
|
probably benign |
Het |
Noxa1 |
A |
G |
2: 24,975,732 (GRCm39) |
|
probably null |
Het |
Or5b98 |
A |
C |
19: 12,931,532 (GRCm39) |
Y193S |
probably benign |
Het |
Or6p1 |
A |
C |
1: 174,258,743 (GRCm39) |
I250L |
probably benign |
Het |
Pde4d |
T |
A |
13: 110,091,040 (GRCm39) |
|
probably benign |
Het |
Pdlim2 |
C |
T |
14: 70,411,925 (GRCm39) |
G36S |
possibly damaging |
Het |
Plekhm2 |
A |
G |
4: 141,361,658 (GRCm39) |
S262P |
possibly damaging |
Het |
Pnpla6 |
C |
A |
8: 3,581,473 (GRCm39) |
T582K |
probably damaging |
Het |
Rap1b |
A |
T |
10: 117,654,480 (GRCm39) |
L120* |
probably null |
Het |
Rft1 |
C |
T |
14: 30,383,323 (GRCm39) |
T121I |
probably benign |
Het |
Scn1a |
A |
G |
2: 66,107,920 (GRCm39) |
I1613T |
probably damaging |
Het |
Slc47a2 |
T |
G |
11: 61,233,293 (GRCm39) |
E79A |
possibly damaging |
Het |
Slc9a4 |
A |
G |
1: 40,619,928 (GRCm39) |
I85V |
probably null |
Het |
Smcr8 |
T |
A |
11: 60,668,853 (GRCm39) |
|
probably benign |
Het |
Sntb1 |
T |
C |
15: 55,655,442 (GRCm39) |
D258G |
possibly damaging |
Het |
Sorbs1 |
A |
G |
19: 40,332,858 (GRCm39) |
I520T |
probably damaging |
Het |
Sptbn2 |
T |
C |
19: 4,797,860 (GRCm39) |
S1896P |
probably damaging |
Het |
Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,881,283 (GRCm39) |
|
probably benign |
Het |
Tars2 |
T |
C |
3: 95,662,067 (GRCm39) |
|
probably benign |
Het |
Tchhl1 |
C |
T |
3: 93,378,430 (GRCm39) |
A378V |
probably benign |
Het |
Tet3 |
A |
T |
6: 83,352,760 (GRCm39) |
F1012Y |
probably damaging |
Het |
Tuba8 |
A |
G |
6: 121,199,913 (GRCm39) |
D199G |
possibly damaging |
Het |
Vmn2r110 |
T |
A |
17: 20,804,468 (GRCm39) |
T151S |
possibly damaging |
Het |
Xirp2 |
T |
C |
2: 67,346,654 (GRCm39) |
I2965T |
probably damaging |
Het |
Zfp688 |
T |
A |
7: 127,018,703 (GRCm39) |
M141L |
probably benign |
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 |
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 |
R6163:Slfn8
|
UTSW |
11 |
82,894,690 (GRCm39) |
makesense |
probably null |
|
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 |
|
Posted On |
2016-08-02 |