Incidental Mutation 'IGL01543:Slfn9'
ID |
90214 |
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 # |
IGL01543
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
82869216-82882656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82878775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 118
(D118G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038211]
[ENSMUST00000092840]
[ENSMUST00000138797]
|
AlphaFold |
B1ARD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038211
AA Change: D118G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000044435 Gene: ENSMUSG00000069793 AA Change: D118G
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 benign
Transcript: ENSMUST00000092840
AA Change: D118G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000090515 Gene: ENSMUSG00000069793 AA Change: D118G
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 benign
Transcript: ENSMUST00000138797
AA Change: D118G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115273 Gene: ENSMUSG00000069793 AA Change: D118G
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
T |
C |
3: 59,932,097 (GRCm39) |
I204T |
probably benign |
Het |
Abhd16a |
T |
C |
17: 35,310,013 (GRCm39) |
S69P |
probably damaging |
Het |
Ampd1 |
C |
T |
3: 103,003,029 (GRCm39) |
T582I |
probably benign |
Het |
Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
Arid1a |
A |
T |
4: 133,409,033 (GRCm39) |
F1825I |
unknown |
Het |
Asxl1 |
G |
A |
2: 153,243,404 (GRCm39) |
G1318D |
probably benign |
Het |
B4galnt3 |
G |
A |
6: 120,186,273 (GRCm39) |
H807Y |
probably benign |
Het |
Bpifb5 |
G |
T |
2: 154,075,169 (GRCm39) |
V366F |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
Ccdc152 |
G |
A |
15: 3,327,606 (GRCm39) |
T57I |
possibly damaging |
Het |
Ccs |
T |
C |
19: 4,884,269 (GRCm39) |
E61G |
possibly damaging |
Het |
Chsy3 |
G |
A |
18: 59,543,472 (GRCm39) |
W870* |
probably null |
Het |
Col8a1 |
G |
A |
16: 57,448,097 (GRCm39) |
P471L |
unknown |
Het |
Cyp2j6 |
A |
C |
4: 96,414,161 (GRCm39) |
V368G |
possibly damaging |
Het |
Dnajc3 |
T |
C |
14: 119,198,274 (GRCm39) |
|
probably null |
Het |
Dpep3 |
A |
T |
8: 106,702,814 (GRCm39) |
M316K |
probably damaging |
Het |
Galntl5 |
A |
G |
5: 25,400,349 (GRCm39) |
E126G |
probably damaging |
Het |
Gli1 |
T |
C |
10: 127,168,347 (GRCm39) |
N502S |
probably damaging |
Het |
Hus1 |
A |
G |
11: 8,950,082 (GRCm39) |
L213P |
probably benign |
Het |
Hypk |
A |
G |
2: 121,287,776 (GRCm39) |
|
probably null |
Het |
Igkv4-59 |
T |
A |
6: 69,415,345 (GRCm39) |
Y70F |
probably damaging |
Het |
Impdh1 |
A |
C |
6: 29,203,377 (GRCm39) |
V14G |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,506,526 (GRCm39) |
M201V |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,295,250 (GRCm39) |
I5323T |
probably damaging |
Het |
Mmp16 |
C |
T |
4: 18,051,743 (GRCm39) |
A244V |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,932,943 (GRCm39) |
D5619G |
probably benign |
Het |
Or2ag20 |
T |
C |
7: 106,465,125 (GRCm39) |
S313P |
probably benign |
Het |
Pcdh7 |
T |
C |
5: 57,878,107 (GRCm39) |
V554A |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,203,101 (GRCm39) |
E1513G |
probably damaging |
Het |
Rab6b |
A |
G |
9: 103,039,837 (GRCm39) |
D75G |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,790,501 (GRCm39) |
Y1435C |
probably damaging |
Het |
Scarf2 |
A |
G |
16: 17,620,413 (GRCm39) |
N81S |
probably damaging |
Het |
Six5 |
G |
A |
7: 18,830,272 (GRCm39) |
A300T |
possibly damaging |
Het |
Skap2 |
T |
A |
6: 51,989,375 (GRCm39) |
N3Y |
possibly damaging |
Het |
Skint6 |
A |
T |
4: 112,757,160 (GRCm39) |
S734T |
probably benign |
Het |
Slc15a4 |
A |
C |
5: 127,680,830 (GRCm39) |
H396Q |
probably benign |
Het |
Slco6c1 |
A |
G |
1: 97,053,553 (GRCm39) |
M116T |
possibly damaging |
Het |
Trim3 |
T |
C |
7: 105,262,520 (GRCm39) |
D546G |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,970,300 (GRCm39) |
L362P |
probably damaging |
Het |
Vasn |
A |
G |
16: 4,467,756 (GRCm39) |
T568A |
possibly damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,414,466 (GRCm39) |
M281V |
probably benign |
Het |
Wwp2 |
A |
G |
8: 108,210,000 (GRCm39) |
E126G |
probably damaging |
Het |
Zfp398 |
G |
A |
6: 47,842,997 (GRCm39) |
G350S |
probably damaging |
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 |
IGL01735:Slfn9
|
APN |
11 |
82,873,158 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01778:Slfn9
|
APN |
11 |
82,878,200 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2013-12-03 |