Incidental Mutation 'IGL02993:Slfn9'
ID |
407017 |
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 # |
IGL02993
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
82869216-82882656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82872022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 905
(S905G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038211]
[ENSMUST00000092840]
[ENSMUST00000138797]
|
AlphaFold |
B1ARD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038211
AA Change: S905G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000044435 Gene: ENSMUSG00000069793 AA Change: S905G
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: S905G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000090515 Gene: ENSMUSG00000069793 AA Change: S905G
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
|
SMART Domains |
Protein: ENSMUSP00000115273 Gene: ENSMUSG00000069793
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
A |
C |
3: 121,567,659 (GRCm39) |
I434S |
probably benign |
Het |
Actr2 |
C |
T |
11: 20,022,514 (GRCm39) |
R319Q |
probably damaging |
Het |
Atp13a5 |
G |
T |
16: 29,112,322 (GRCm39) |
Y606* |
probably null |
Het |
Baiap3 |
C |
T |
17: 25,469,056 (GRCm39) |
|
probably null |
Het |
Cers2 |
A |
G |
3: 95,227,396 (GRCm39) |
Y8C |
probably benign |
Het |
Ces1g |
T |
A |
8: 94,043,707 (GRCm39) |
M411L |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,894,304 (GRCm39) |
|
probably benign |
Het |
Cyp2d40 |
C |
A |
15: 82,645,722 (GRCm39) |
K94N |
probably benign |
Het |
Ddx51 |
T |
C |
5: 110,803,487 (GRCm39) |
V323A |
possibly damaging |
Het |
Dock1 |
G |
A |
7: 134,346,027 (GRCm39) |
V190I |
probably benign |
Het |
Evc2 |
A |
G |
5: 37,576,501 (GRCm39) |
T1042A |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,011,304 (GRCm39) |
S2135T |
probably damaging |
Het |
Gpat2 |
T |
C |
2: 127,269,486 (GRCm39) |
F46S |
probably damaging |
Het |
Klhl38 |
T |
A |
15: 58,185,851 (GRCm39) |
K293* |
probably null |
Het |
Map4k4 |
T |
C |
1: 40,053,348 (GRCm39) |
I916T |
probably damaging |
Het |
Nrap |
T |
A |
19: 56,333,965 (GRCm39) |
K964M |
probably damaging |
Het |
Osbpl5 |
T |
C |
7: 143,253,071 (GRCm39) |
|
probably null |
Het |
Perm1 |
A |
G |
4: 156,302,236 (GRCm39) |
Q260R |
probably benign |
Het |
Ralgapb |
T |
A |
2: 158,279,314 (GRCm39) |
N133K |
possibly damaging |
Het |
Scart2 |
A |
G |
7: 139,876,486 (GRCm39) |
T537A |
probably benign |
Het |
Spata31g1 |
T |
C |
4: 42,971,719 (GRCm39) |
Y351H |
probably damaging |
Het |
Ssh2 |
C |
T |
11: 77,344,370 (GRCm39) |
T785I |
probably damaging |
Het |
Stk16 |
C |
A |
1: 75,189,648 (GRCm39) |
Q69K |
probably damaging |
Het |
Stk36 |
T |
C |
1: 74,661,446 (GRCm39) |
L491P |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tcp11 |
T |
C |
17: 28,289,490 (GRCm39) |
N194D |
probably damaging |
Het |
Trio |
C |
A |
15: 27,830,325 (GRCm39) |
|
probably benign |
Het |
Ugt2b1 |
A |
G |
5: 87,069,850 (GRCm39) |
V297A |
possibly damaging |
Het |
Ugt2b5 |
T |
G |
5: 87,285,091 (GRCm39) |
H282P |
probably damaging |
Het |
Usp53 |
A |
G |
3: 122,727,492 (GRCm39) |
M1030T |
probably damaging |
Het |
Vmn1r234 |
T |
A |
17: 21,449,965 (GRCm39) |
I293N |
probably damaging |
Het |
Vmn2r57 |
T |
A |
7: 41,077,498 (GRCm39) |
T223S |
probably benign |
Het |
Wdr20 |
G |
T |
12: 110,760,742 (GRCm39) |
E543* |
probably null |
Het |
Zbtb25 |
T |
A |
12: 76,396,191 (GRCm39) |
N344Y |
probably damaging |
Het |
Zcchc2 |
T |
C |
1: 105,957,898 (GRCm39) |
F790L |
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 |
IGL01543:Slfn9
|
APN |
11 |
82,878,775 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
2016-08-02 |