Incidental Mutation 'R4950:Slfn9'
ID |
381931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn9
|
Ensembl Gene |
ENSMUSG00000069793 |
Gene Name |
schlafen 9 |
Synonyms |
9830137M10Rik |
MMRRC Submission |
042547-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R4950 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
82869216-82882656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82872730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 669
(I669V)
|
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: I669V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000044435 Gene: ENSMUSG00000069793 AA Change: I669V
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: I669V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000090515 Gene: ENSMUSG00000069793 AA Change: I669V
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
|
Meta Mutation Damage Score |
0.0895 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.9%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bpifb9b |
A |
T |
2: 154,153,579 (GRCm39) |
D215V |
probably damaging |
Het |
Cacna1i |
A |
G |
15: 80,252,872 (GRCm39) |
E625G |
probably damaging |
Het |
Cage1 |
C |
T |
13: 38,207,302 (GRCm39) |
S181N |
possibly damaging |
Het |
Ccdc73 |
A |
C |
2: 104,822,711 (GRCm39) |
I887L |
probably benign |
Het |
Cfap65 |
T |
A |
1: 74,945,495 (GRCm39) |
K1408* |
probably null |
Het |
Cngb1 |
C |
A |
8: 95,975,135 (GRCm39) |
G654W |
probably damaging |
Het |
Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
Ddi1 |
A |
G |
9: 6,266,073 (GRCm39) |
S99P |
probably benign |
Het |
Disp3 |
A |
T |
4: 148,342,583 (GRCm39) |
D622E |
possibly damaging |
Het |
Dnajc22 |
G |
A |
15: 98,999,615 (GRCm39) |
V267I |
probably benign |
Het |
Dph5 |
G |
A |
3: 115,722,292 (GRCm39) |
G257S |
probably benign |
Het |
Elmo2 |
A |
T |
2: 165,156,733 (GRCm39) |
|
probably null |
Het |
Fam186a |
T |
C |
15: 99,839,534 (GRCm39) |
R2237G |
unknown |
Het |
Fez1 |
G |
A |
9: 36,779,178 (GRCm39) |
R285Q |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,777,276 (GRCm39) |
H101L |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,807,758 (GRCm39) |
C1359Y |
probably benign |
Het |
Fxyd7 |
G |
A |
7: 30,746,815 (GRCm39) |
T15I |
probably benign |
Het |
Gpr155 |
A |
T |
2: 73,212,529 (GRCm39) |
D31E |
probably benign |
Het |
Iho1 |
A |
C |
9: 108,298,709 (GRCm39) |
S36R |
probably damaging |
Het |
Irx6 |
A |
T |
8: 93,405,428 (GRCm39) |
Y432F |
probably damaging |
Het |
Itih5 |
A |
C |
2: 10,239,892 (GRCm39) |
I340L |
probably damaging |
Het |
Lao1 |
T |
C |
4: 118,822,572 (GRCm39) |
L164S |
probably damaging |
Het |
Mcoln3 |
T |
C |
3: 145,845,274 (GRCm39) |
I490T |
probably damaging |
Het |
Mef2b |
T |
C |
8: 70,619,846 (GRCm39) |
Y311H |
probably damaging |
Het |
Mras |
A |
T |
9: 99,276,537 (GRCm39) |
L111Q |
probably damaging |
Het |
Mrc1 |
A |
G |
2: 14,276,091 (GRCm39) |
D475G |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,645,273 (GRCm39) |
I1155T |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
Or7e165 |
G |
A |
9: 19,695,027 (GRCm39) |
M199I |
probably benign |
Het |
Or8b38 |
T |
C |
9: 37,973,297 (GRCm39) |
I227T |
probably damaging |
Het |
Parp9 |
A |
T |
16: 35,768,377 (GRCm39) |
I186F |
probably damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,283 (GRCm39) |
V421E |
probably benign |
Het |
Pck1 |
T |
A |
2: 172,996,620 (GRCm39) |
I178K |
probably benign |
Het |
Pde6b |
A |
G |
5: 108,578,569 (GRCm39) |
K836E |
probably benign |
Het |
Ptprd |
T |
A |
4: 76,058,752 (GRCm39) |
|
probably null |
Het |
Pwp2 |
A |
G |
10: 78,018,840 (GRCm39) |
Y56H |
probably benign |
Het |
Rarb |
G |
A |
14: 16,432,085 (GRCm38) |
|
probably benign |
Het |
Rpain |
C |
G |
11: 70,861,747 (GRCm39) |
H50Q |
probably benign |
Het |
Rps9 |
CTGTTTG |
CTG |
7: 3,707,758 (GRCm39) |
|
probably null |
Het |
Rubcn |
A |
T |
16: 32,663,563 (GRCm39) |
S358T |
probably damaging |
Het |
Ryr2 |
G |
A |
13: 11,756,897 (GRCm39) |
R1586C |
probably damaging |
Het |
Slx1b |
T |
C |
7: 126,290,939 (GRCm39) |
|
probably benign |
Het |
Spsb3 |
T |
A |
17: 25,106,485 (GRCm39) |
|
probably benign |
Het |
Tbx15 |
A |
G |
3: 99,233,700 (GRCm39) |
I288V |
possibly damaging |
Het |
Tlr2 |
C |
A |
3: 83,744,639 (GRCm39) |
E481D |
probably damaging |
Het |
Trim17 |
A |
T |
11: 58,861,254 (GRCm39) |
D253V |
probably damaging |
Het |
Trim69 |
A |
G |
2: 122,009,227 (GRCm39) |
D429G |
probably damaging |
Het |
Vstm5 |
A |
G |
9: 15,169,090 (GRCm39) |
|
probably null |
Het |
Vwa3b |
A |
G |
1: 37,124,413 (GRCm39) |
Q337R |
probably benign |
Het |
Zfp113 |
T |
C |
5: 138,143,734 (GRCm39) |
N172S |
probably benign |
Het |
Zfp607a |
T |
A |
7: 27,578,176 (GRCm39) |
H415Q |
probably damaging |
Het |
Zfp87 |
G |
A |
13: 67,666,018 (GRCm39) |
T148I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCGTACCACTTGTGTGAGC -3'
(R):5'- TGGGTGTGTTCAATCTAAGATGAAC -3'
Sequencing Primer
(F):5'- AGCTCTTCCTTTGGATACTGGAG -3'
(R):5'- CTTGGGAACTAGTCAGTCAAATG -3'
|
Posted On |
2016-04-27 |