Incidental Mutation 'R8286:Slfn9'
| ID |
638472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn9
|
| Ensembl Gene |
ENSMUSG00000069793 |
| Gene Name |
schlafen 9 |
| Synonyms |
9830137M10Rik |
| MMRRC Submission |
067708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82869216-82882656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 82872095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 880
(N880K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038211]
[ENSMUST00000092840]
[ENSMUST00000138797]
|
| AlphaFold |
B1ARD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038211
AA Change: N880K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044435
Gene: ENSMUSG00000069793
AA Change: N880K
| 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: N880K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090515
Gene: ENSMUSG00000069793
AA Change: N880K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
T |
5: 8,914,119 (GRCm39) |
Y1163F |
probably damaging |
Het |
| Abcd4 |
A |
G |
12: 84,649,920 (GRCm39) |
V589A |
probably benign |
Het |
| Adam26b |
T |
A |
8: 43,972,998 (GRCm39) |
N668I |
probably benign |
Het |
| Atp2b2 |
T |
C |
6: 113,819,275 (GRCm39) |
N6S |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,392,063 (GRCm39) |
Y468C |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 96,002,252 (GRCm39) |
V52D |
|
Het |
| Cped1 |
A |
T |
6: 22,254,601 (GRCm39) |
Y998F |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,039,188 (GRCm39) |
V2390A |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,148,330 (GRCm39) |
C321* |
probably null |
Het |
| Dip2a |
A |
C |
10: 76,122,297 (GRCm39) |
I139S |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,559,248 (GRCm39) |
I937V |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,210,795 (GRCm39) |
|
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,711,087 (GRCm39) |
I662T |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,528,089 (GRCm39) |
R971G |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,879,928 (GRCm39) |
T1294A |
probably damaging |
Het |
| Herc2 |
T |
G |
7: 55,879,410 (GRCm39) |
V4676G |
possibly damaging |
Het |
| Hif1a |
A |
G |
12: 73,992,022 (GRCm39) |
|
probably benign |
Het |
| Icam5 |
C |
A |
9: 20,946,822 (GRCm39) |
A450E |
possibly damaging |
Het |
| Map3k21 |
T |
A |
8: 126,637,498 (GRCm39) |
M28K |
probably benign |
Het |
| Mars1 |
C |
A |
10: 127,141,348 (GRCm39) |
R347L |
probably benign |
Het |
| Mctp1 |
A |
T |
13: 76,905,174 (GRCm39) |
I426F |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,731,960 (GRCm39) |
S3007P |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,998,149 (GRCm39) |
R65G |
possibly damaging |
Het |
| Ncald |
G |
T |
15: 37,397,505 (GRCm39) |
Y58* |
probably null |
Het |
| Neil2 |
A |
T |
14: 63,426,154 (GRCm39) |
I72K |
probably benign |
Het |
| Or8b35 |
C |
A |
9: 37,904,401 (GRCm39) |
Y204* |
probably null |
Het |
| Or8k23 |
A |
G |
2: 86,186,691 (GRCm39) |
F12L |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,154,189 (GRCm39) |
D1086G |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,870 (GRCm39) |
T1087A |
probably damaging |
Het |
| Prpf39 |
A |
G |
12: 65,103,132 (GRCm39) |
M469V |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,444,323 (GRCm39) |
S905C |
probably damaging |
Het |
| Rassf5 |
T |
C |
1: 131,140,067 (GRCm39) |
D164G |
possibly damaging |
Het |
| Setd1a |
T |
C |
7: 127,385,356 (GRCm39) |
W688R |
possibly damaging |
Het |
| Sfswap |
C |
T |
5: 129,616,783 (GRCm39) |
T409I |
probably damaging |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Sprr1b |
T |
C |
3: 92,344,720 (GRCm39) |
K52R |
probably benign |
Het |
| Tfb2m |
T |
C |
1: 179,356,770 (GRCm39) |
D388G |
probably damaging |
Het |
| Tmem234 |
T |
C |
4: 129,500,881 (GRCm39) |
|
probably benign |
Het |
| Traj43 |
A |
G |
14: 54,412,201 (GRCm39) |
N1D |
|
Het |
| Trmt1l |
T |
A |
1: 151,333,543 (GRCm39) |
I682N |
probably damaging |
Het |
| Trp53rka |
T |
C |
2: 165,333,445 (GRCm39) |
D148G |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,285,855 (GRCm39) |
V440A |
probably benign |
Het |
| Vxn |
C |
T |
1: 9,683,613 (GRCm39) |
T67I |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,085,287 (GRCm39) |
V736I |
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 |
|
|
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 |
|
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'- GTGTACATTGCCTTGCCAGTC -3'
(R):5'- AGCCTATGAGCATATGTTCCTGAG -3'
Sequencing Primer
(F):5'- CAGCCTCAGTTAGTTACGATATACAC -3'
(R):5'- TGAGCATATGTTCCTGAGAGAAATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation