Incidental Mutation 'R5471:Slfn9'
| ID |
433828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn9
|
| Ensembl Gene |
ENSMUSG00000069793 |
| Gene Name |
schlafen 9 |
| Synonyms |
9830137M10Rik |
| MMRRC Submission |
043032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82869216-82882656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 82873613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 430
(Q430P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038211]
[ENSMUST00000092840]
[ENSMUST00000138797]
|
| AlphaFold |
B1ARD6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038211
AA Change: Q430P
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044435
Gene: ENSMUSG00000069793
AA Change: Q430P
| 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 |
possibly damaging
Transcript: ENSMUST00000092840
AA Change: Q430P
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090515
Gene: ENSMUSG00000069793
AA Change: Q430P
| 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 |
possibly damaging
Transcript: ENSMUST00000138797
AA Change: Q430P
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115273
Gene: ENSMUSG00000069793
AA Change: Q430P
| 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 |
0.1699 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
96% (67/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
T |
7: 119,259,829 (GRCm39) |
H493Y |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,210,850 (GRCm39) |
I290V |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,619,617 (GRCm39) |
N163K |
probably benign |
Het |
| Baiap2l1 |
T |
G |
5: 144,218,951 (GRCm39) |
N219T |
probably benign |
Het |
| Cd72 |
T |
C |
4: 43,448,345 (GRCm39) |
I312V |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,864,522 (GRCm39) |
M139K |
probably damaging |
Het |
| Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
| Cmklr2 |
A |
C |
1: 63,223,058 (GRCm39) |
V59G |
probably damaging |
Het |
| Cwh43 |
T |
A |
5: 73,565,574 (GRCm39) |
C46* |
probably null |
Het |
| Cyp1a2 |
A |
T |
9: 57,586,303 (GRCm39) |
I405N |
probably damaging |
Het |
| Dlc1 |
G |
T |
8: 37,051,879 (GRCm39) |
S617R |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,304,613 (GRCm39) |
N1546S |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,756,555 (GRCm39) |
I548V |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,588,065 (GRCm39) |
D566G |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,533,299 (GRCm39) |
T106A |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,874,752 (GRCm39) |
T862A |
probably benign |
Het |
| Fgfr1op2 |
A |
T |
6: 146,498,860 (GRCm39) |
|
probably null |
Het |
| Gcnt2 |
A |
G |
13: 41,014,195 (GRCm39) |
Y122C |
probably damaging |
Het |
| Gm11992 |
A |
T |
11: 9,018,333 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
C |
A |
7: 39,058,534 (GRCm39) |
E362* |
probably null |
Het |
| Gm815 |
A |
G |
19: 26,865,769 (GRCm39) |
T96A |
unknown |
Het |
| Gm8674 |
A |
G |
13: 50,054,849 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
T |
A |
5: 18,196,322 (GRCm39) |
I56N |
probably damaging |
Het |
| Igkv1-133 |
T |
C |
6: 67,702,531 (GRCm39) |
V83A |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,471 (GRCm39) |
N47K |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,197,917 (GRCm39) |
D1182G |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,367,389 (GRCm39) |
T480A |
probably benign |
Het |
| Npnt |
T |
G |
3: 132,620,148 (GRCm39) |
N115T |
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,856,442 (GRCm39) |
N279S |
possibly damaging |
Het |
| Ntrk2 |
T |
C |
13: 59,019,574 (GRCm39) |
V395A |
probably benign |
Het |
| Or2ak6 |
T |
C |
11: 58,593,151 (GRCm39) |
L208S |
probably damaging |
Het |
| Or5ac23 |
T |
G |
16: 59,148,994 (GRCm39) |
N293H |
probably damaging |
Het |
| Or6c1 |
A |
G |
10: 129,517,925 (GRCm39) |
S228P |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,660,519 (GRCm39) |
K333R |
possibly damaging |
Het |
| Pira1 |
T |
A |
7: 3,738,514 (GRCm39) |
I621F |
probably benign |
Het |
| Ptgis |
C |
A |
2: 167,066,039 (GRCm39) |
M130I |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,693,649 (GRCm39) |
Y124* |
probably null |
Het |
| Saal1 |
C |
T |
7: 46,349,072 (GRCm39) |
V281M |
probably benign |
Het |
| Saxo1 |
G |
A |
4: 86,363,961 (GRCm39) |
T174I |
probably damaging |
Het |
| Slc7a12 |
G |
A |
3: 14,545,935 (GRCm39) |
V27M |
probably damaging |
Het |
| Slco4c1 |
C |
A |
1: 96,799,770 (GRCm39) |
R22L |
probably benign |
Het |
| Slit2 |
T |
A |
5: 48,346,897 (GRCm39) |
N246K |
probably damaging |
Het |
| Stox2 |
G |
T |
8: 47,646,548 (GRCm39) |
T304K |
probably damaging |
Het |
| Tmem87b |
T |
G |
2: 128,693,240 (GRCm39) |
F542V |
possibly damaging |
Het |
| Topaz1 |
T |
G |
9: 122,620,481 (GRCm39) |
|
probably null |
Het |
| Trappc12 |
G |
A |
12: 28,741,499 (GRCm39) |
R737W |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,393,566 (GRCm39) |
I126T |
possibly damaging |
Het |
| Txnl1 |
A |
G |
18: 63,809,997 (GRCm39) |
C149R |
probably damaging |
Het |
| Ubald1 |
G |
A |
16: 4,693,705 (GRCm39) |
T70M |
probably damaging |
Het |
| Vash1 |
G |
A |
12: 86,735,902 (GRCm39) |
V263M |
possibly damaging |
Het |
| Vsx1 |
T |
C |
2: 150,524,986 (GRCm39) |
T343A |
probably benign |
Het |
| Zfp397 |
A |
G |
18: 24,093,081 (GRCm39) |
N189D |
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 |
|
R4950:Slfn9
|
UTSW |
11 |
82,872,730 (GRCm39) |
missense |
probably benign |
|
|
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'- AGTGTTCACCAGCTTCTGC -3'
(R):5'- ATATTGGCCACCTACTTGACTC -3'
Sequencing Primer
(F):5'- CTTCTGCTTCAGAGTAAAGGCAG -3'
(R):5'- ACCTACTTGACTCTCCATTTTAAAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation