Incidental Mutation 'R8730:Slfn9'
| ID |
662714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn9
|
| Ensembl Gene |
ENSMUSG00000069793 |
| Gene Name |
schlafen 9 |
| Synonyms |
9830137M10Rik |
| MMRRC Submission |
068578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82869216-82882656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82878194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 312
(I312V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038211]
[ENSMUST00000092840]
[ENSMUST00000138797]
|
| AlphaFold |
B1ARD6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038211
AA Change: I312V
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044435
Gene: ENSMUSG00000069793
AA Change: I312V
| 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: I312V
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090515
Gene: ENSMUSG00000069793
AA Change: I312V
| 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: I312V
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115273
Gene: ENSMUSG00000069793
AA Change: I312V
| 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 |
|
| Meta Mutation Damage Score |
0.1870 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
C |
5: 8,208,830 (GRCm39) |
S200A |
probably benign |
Het |
| Adgrg3 |
G |
A |
8: 95,766,556 (GRCm39) |
R409H |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,506 (GRCm39) |
V548M |
possibly damaging |
Het |
| Ampd1 |
T |
A |
3: 102,992,676 (GRCm39) |
C143* |
probably null |
Het |
| Angpt4 |
A |
G |
2: 151,771,467 (GRCm39) |
Q261R |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,601,191 (GRCm39) |
K491E |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,457,501 (GRCm39) |
M180K |
possibly damaging |
Het |
| Dcst2 |
C |
T |
3: 89,280,553 (GRCm39) |
R620C |
probably damaging |
Het |
| Dcun1d4 |
T |
A |
5: 73,688,832 (GRCm39) |
|
probably benign |
Het |
| Dhrs1 |
T |
A |
14: 55,980,978 (GRCm39) |
T103S |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,384,087 (GRCm39) |
L1043P |
possibly damaging |
Het |
| Eci3 |
A |
T |
13: 35,144,405 (GRCm39) |
N19K |
probably benign |
Het |
| Ets1 |
A |
T |
9: 32,649,614 (GRCm39) |
D317V |
probably damaging |
Het |
| Fem1c |
T |
C |
18: 46,638,668 (GRCm39) |
I445V |
possibly damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,492,484 (GRCm39) |
I176M |
possibly damaging |
Het |
| Gm6563 |
A |
T |
19: 23,653,429 (GRCm39) |
K73I |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,532,140 (GRCm39) |
R252G |
possibly damaging |
Het |
| Gsx1 |
T |
C |
5: 147,126,651 (GRCm39) |
L158P |
probably damaging |
Het |
| Hand2 |
T |
A |
8: 57,775,468 (GRCm39) |
V176E |
probably benign |
Het |
| Hey2 |
G |
T |
10: 30,718,622 (GRCm39) |
T8K |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,334,532 (GRCm39) |
I203T |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,739,066 (GRCm39) |
|
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,725,139 (GRCm39) |
I212V |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 26,403,708 (GRCm39) |
V740L |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,797 (GRCm39) |
I362T |
probably damaging |
Het |
| Klhdc9 |
C |
T |
1: 171,186,488 (GRCm39) |
G316D |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,317,738 (GRCm39) |
E169G |
probably damaging |
Het |
| Muc20 |
G |
T |
16: 32,599,490 (GRCm39) |
H645N |
probably benign |
Het |
| Nrm |
A |
G |
17: 36,175,423 (GRCm39) |
T52A |
probably benign |
Het |
| Or13a23-ps1 |
T |
C |
7: 140,119,197 (GRCm39) |
S256P |
unknown |
Het |
| Or14c41 |
A |
G |
7: 86,235,259 (GRCm39) |
K259E |
probably benign |
Het |
| Or2y3 |
A |
T |
17: 38,392,925 (GRCm39) |
*315K |
probably null |
Het |
| Or4c105 |
T |
A |
2: 88,648,043 (GRCm39) |
M176K |
possibly damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,934 (GRCm39) |
D268E |
probably damaging |
Het |
| Or51f23 |
T |
C |
7: 102,453,348 (GRCm39) |
V221A |
probably benign |
Het |
| Pde11a |
A |
T |
2: 75,889,334 (GRCm39) |
N713K |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,405,944 (GRCm39) |
L65S |
probably damaging |
Het |
| Prox1 |
A |
G |
1: 189,894,238 (GRCm39) |
V69A |
possibly damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,198 (GRCm39) |
H146R |
probably damaging |
Het |
| Pxt1 |
A |
T |
17: 29,153,702 (GRCm39) |
F44I |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,795 (GRCm39) |
D581G |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,381,239 (GRCm39) |
T1057A |
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,786,495 (GRCm39) |
G836R |
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,122,057 (GRCm39) |
S155T |
possibly damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,030,951 (GRCm39) |
Y308C |
|
Het |
| St3gal5 |
T |
A |
6: 72,130,461 (GRCm39) |
L351Q |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,601,590 (GRCm39) |
D157G |
probably benign |
Het |
| Tmprss11g |
C |
T |
5: 86,638,837 (GRCm39) |
|
probably null |
Het |
| Tnpo1 |
A |
T |
13: 98,989,916 (GRCm39) |
I745N |
probably benign |
Het |
| Uggt1 |
C |
A |
1: 36,236,624 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
G |
A |
3: 125,732,105 (GRCm39) |
|
probably benign |
Het |
| Urod |
T |
C |
4: 116,850,729 (GRCm39) |
|
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,838 (GRCm39) |
Y276* |
probably null |
Het |
| Vwa3a |
T |
A |
7: 120,381,910 (GRCm39) |
S582T |
probably damaging |
Het |
| Zfp869 |
A |
T |
8: 70,159,177 (GRCm39) |
C465* |
probably null |
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 |
|
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 |
|
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'- GCCAACTTCAGTGGGTGTAATG -3'
(R):5'- ATGCCCAAAAGACAACGTTG -3'
Sequencing Primer
(F):5'- CCAACTTCAGTGGGTGTAATGAACTC -3'
(R):5'- GACCCTGACTCTTTGAAAATTGTGGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation