Incidental Mutation 'IGL01778:Slfn9'
ID |
153741 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slfn9
|
Ensembl Gene |
ENSMUSG00000069793 |
Gene Name |
schlafen 9 |
Synonyms |
9830137M10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL01778
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
82869216-82882656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82878200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 310
(C310S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038211]
[ENSMUST00000092840]
[ENSMUST00000138797]
|
AlphaFold |
B1ARD6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038211
AA Change: C310S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044435 Gene: ENSMUSG00000069793 AA Change: C310S
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
Pfam:AlbA_2
|
205 |
343 |
2.3e-17 |
PFAM |
Pfam:DUF2075
|
592 |
766 |
9.7e-11 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092840
AA Change: C310S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000090515 Gene: ENSMUSG00000069793 AA Change: C310S
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
Pfam:AAA_4
|
205 |
344 |
1.6e-18 |
PFAM |
Pfam:DUF2075
|
592 |
766 |
1.2e-11 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138797
AA Change: C310S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115273 Gene: ENSMUSG00000069793 AA Change: C310S
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
Pfam:AAA_4
|
205 |
344 |
3.8e-19 |
PFAM |
Pfam:DUF2075
|
592 |
642 |
1.9e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183379
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt2 |
T |
C |
4: 154,751,162 (GRCm39) |
K325E |
probably benign |
Het |
Arc |
C |
T |
15: 74,544,204 (GRCm39) |
M6I |
probably benign |
Het |
Atp7b |
A |
T |
8: 22,484,844 (GRCm39) |
D1404E |
probably benign |
Het |
Cdk5rap1 |
T |
A |
2: 154,207,956 (GRCm39) |
N156I |
probably damaging |
Het |
Ctsa |
T |
C |
2: 164,676,230 (GRCm39) |
|
probably benign |
Het |
Depdc1b |
T |
G |
13: 108,498,861 (GRCm39) |
N181K |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,062,489 (GRCm39) |
V1994A |
probably damaging |
Het |
Epyc |
T |
A |
10: 97,517,099 (GRCm39) |
C312* |
probably null |
Het |
Erv3 |
T |
A |
2: 131,697,877 (GRCm39) |
R161* |
probably null |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gfra3 |
T |
C |
18: 34,824,644 (GRCm39) |
T280A |
possibly damaging |
Het |
Gldn |
A |
T |
9: 54,241,776 (GRCm39) |
|
probably null |
Het |
Gtf3c4 |
G |
A |
2: 28,725,100 (GRCm39) |
R211C |
probably damaging |
Het |
Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
Hsh2d |
A |
G |
8: 72,947,351 (GRCm39) |
D16G |
probably damaging |
Het |
Klk15 |
T |
A |
7: 43,588,262 (GRCm39) |
M190K |
probably damaging |
Het |
Klri1 |
A |
G |
6: 129,694,010 (GRCm39) |
S26P |
possibly damaging |
Het |
Krt78 |
T |
A |
15: 101,859,402 (GRCm39) |
D265V |
probably damaging |
Het |
Lgr5 |
A |
C |
10: 115,298,607 (GRCm39) |
I355S |
probably damaging |
Het |
Lig3 |
T |
A |
11: 82,685,367 (GRCm39) |
V595D |
probably damaging |
Het |
Map2k6 |
A |
C |
11: 110,403,695 (GRCm39) |
|
probably benign |
Het |
Mdm4 |
A |
G |
1: 132,922,285 (GRCm39) |
S286P |
probably benign |
Het |
Ncoa4-ps |
T |
C |
12: 119,226,231 (GRCm39) |
|
noncoding transcript |
Het |
Or2ak7 |
A |
G |
11: 58,575,095 (GRCm39) |
Y132C |
probably damaging |
Het |
Pofut1 |
T |
A |
2: 153,090,448 (GRCm39) |
M114K |
probably damaging |
Het |
Rdh13 |
C |
T |
7: 4,433,388 (GRCm39) |
|
probably null |
Het |
Reg3g |
T |
A |
6: 78,443,816 (GRCm39) |
I131F |
probably benign |
Het |
Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
Slc8a2 |
T |
A |
7: 15,892,818 (GRCm39) |
F827I |
probably damaging |
Het |
Sypl1 |
A |
G |
12: 33,025,641 (GRCm39) |
Y235C |
probably damaging |
Het |
Trav7-4 |
A |
T |
14: 53,699,098 (GRCm39) |
T82S |
possibly damaging |
Het |
Trim28 |
T |
A |
7: 12,764,629 (GRCm39) |
V782D |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,575,242 (GRCm39) |
T25217M |
probably damaging |
Het |
Usp6nl |
A |
G |
2: 6,432,381 (GRCm39) |
T260A |
possibly damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,366,009 (GRCm39) |
N308K |
probably benign |
Het |
Xdh |
T |
C |
17: 74,207,275 (GRCm39) |
E986G |
probably benign |
Het |
Zfp770 |
T |
C |
2: 114,026,719 (GRCm39) |
D450G |
probably damaging |
Het |
Zw10 |
T |
G |
9: 48,980,915 (GRCm39) |
S438R |
probably benign |
Het |
|
Other mutations in Slfn9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00900:Slfn9
|
APN |
11 |
82,872,197 (GRCm39) |
nonsense |
probably null |
|
IGL01340:Slfn9
|
APN |
11 |
82,872,577 (GRCm39) |
missense |
probably benign |
0.29 |
IGL01543:Slfn9
|
APN |
11 |
82,878,775 (GRCm39) |
missense |
probably benign |
|
IGL01735:Slfn9
|
APN |
11 |
82,873,158 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01863:Slfn9
|
APN |
11 |
82,872,151 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01997:Slfn9
|
APN |
11 |
82,878,503 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02380:Slfn9
|
APN |
11 |
82,872,046 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02993:Slfn9
|
APN |
11 |
82,872,022 (GRCm39) |
missense |
probably benign |
0.18 |
R1463:Slfn9
|
UTSW |
11 |
82,872,524 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1687:Slfn9
|
UTSW |
11 |
82,872,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R1786:Slfn9
|
UTSW |
11 |
82,872,133 (GRCm39) |
missense |
probably damaging |
0.99 |
R1796:Slfn9
|
UTSW |
11 |
82,872,781 (GRCm39) |
missense |
probably benign |
0.00 |
R1870:Slfn9
|
UTSW |
11 |
82,872,402 (GRCm39) |
missense |
probably benign |
|
R1871:Slfn9
|
UTSW |
11 |
82,872,402 (GRCm39) |
missense |
probably benign |
|
R2004:Slfn9
|
UTSW |
11 |
82,879,027 (GRCm39) |
missense |
probably benign |
0.25 |
R2024:Slfn9
|
UTSW |
11 |
82,872,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R2106:Slfn9
|
UTSW |
11 |
82,878,506 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2140:Slfn9
|
UTSW |
11 |
82,875,481 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3004:Slfn9
|
UTSW |
11 |
82,872,590 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4293:Slfn9
|
UTSW |
11 |
82,873,334 (GRCm39) |
missense |
probably benign |
0.01 |
R4927:Slfn9
|
UTSW |
11 |
82,872,216 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4950:Slfn9
|
UTSW |
11 |
82,872,730 (GRCm39) |
missense |
probably benign |
|
R5471:Slfn9
|
UTSW |
11 |
82,873,613 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5543:Slfn9
|
UTSW |
11 |
82,873,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Slfn9
|
UTSW |
11 |
82,872,258 (GRCm39) |
missense |
probably benign |
|
R5996:Slfn9
|
UTSW |
11 |
82,878,310 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7272:Slfn9
|
UTSW |
11 |
82,872,387 (GRCm39) |
missense |
probably benign |
0.36 |
R7421:Slfn9
|
UTSW |
11 |
82,878,562 (GRCm39) |
missense |
probably damaging |
0.96 |
R7421:Slfn9
|
UTSW |
11 |
82,872,197 (GRCm39) |
nonsense |
probably null |
|
R7498:Slfn9
|
UTSW |
11 |
82,873,013 (GRCm39) |
missense |
probably damaging |
0.98 |
R7788:Slfn9
|
UTSW |
11 |
82,873,467 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8286:Slfn9
|
UTSW |
11 |
82,872,095 (GRCm39) |
missense |
probably damaging |
0.99 |
R8304:Slfn9
|
UTSW |
11 |
82,873,605 (GRCm39) |
missense |
probably benign |
0.14 |
R8388:Slfn9
|
UTSW |
11 |
82,878,112 (GRCm39) |
missense |
probably benign |
|
R8678:Slfn9
|
UTSW |
11 |
82,872,370 (GRCm39) |
missense |
probably benign |
0.33 |
R8730:Slfn9
|
UTSW |
11 |
82,878,194 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8914:Slfn9
|
UTSW |
11 |
82,872,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R9050:Slfn9
|
UTSW |
11 |
82,879,120 (GRCm39) |
missense |
probably benign |
0.00 |
R9424:Slfn9
|
UTSW |
11 |
82,878,211 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9576:Slfn9
|
UTSW |
11 |
82,878,211 (GRCm39) |
missense |
possibly damaging |
0.75 |
Z1176:Slfn9
|
UTSW |
11 |
82,873,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-02-04 |