Incidental Mutation 'R1501:Slfn8'
| ID |
169287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| MMRRC Submission |
040867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R1501 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82892984-82911636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82894006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 878
(S878P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038141
AA Change: S878P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: S878P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
1.6e-18 |
PFAM |
|
Pfam:DUF2075
|
592 |
766 |
5.8e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092838
AA Change: S878P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: S878P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
205 |
341 |
1.4e-17 |
PFAM |
|
Pfam:DUF2075
|
592 |
767 |
2.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108152
|
| SMART Domains |
Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130822
|
| SMART Domains |
Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
3.7e-19 |
PFAM |
|
SCOP:d1ly1a_
|
593 |
625 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131883
|
| SMART Domains |
Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
27 |
163 |
1.8e-15 |
PFAM |
|
SCOP:d1ly1a_
|
370 |
402 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215239
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
T |
14: 78,750,787 (GRCm39) |
S533R |
probably benign |
Het |
| Amph |
C |
T |
13: 19,288,461 (GRCm39) |
Q317* |
probably null |
Het |
| Bach2 |
A |
G |
4: 32,562,279 (GRCm39) |
T249A |
possibly damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,703,137 (GRCm39) |
C845R |
probably damaging |
Het |
| Calml4 |
A |
G |
9: 62,778,622 (GRCm39) |
K12E |
probably benign |
Het |
| Chrd |
C |
T |
16: 20,556,283 (GRCm39) |
R615W |
probably damaging |
Het |
| Chst15 |
T |
A |
7: 131,870,798 (GRCm39) |
K246* |
probably null |
Het |
| Cmtr2 |
G |
A |
8: 110,948,235 (GRCm39) |
D182N |
probably benign |
Het |
| Cyp2d9 |
C |
A |
15: 82,338,525 (GRCm39) |
C186* |
probably null |
Het |
| Cyp3a13 |
G |
T |
5: 137,909,892 (GRCm39) |
|
probably null |
Het |
| Dcaf17 |
A |
T |
2: 70,912,332 (GRCm39) |
I320F |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,145,297 (GRCm39) |
I227V |
possibly damaging |
Het |
| Dlc1 |
G |
T |
8: 37,405,302 (GRCm39) |
N162K |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,317,670 (GRCm39) |
R455H |
probably benign |
Het |
| Drg2 |
G |
T |
11: 60,355,679 (GRCm39) |
A306S |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,465,076 (GRCm39) |
R422S |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,766,452 (GRCm39) |
V353A |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,617,756 (GRCm39) |
S34G |
probably benign |
Het |
| Enpp2 |
C |
A |
15: 54,702,910 (GRCm39) |
W862L |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,119,485 (GRCm39) |
I139V |
probably benign |
Het |
| Fhad1 |
C |
T |
4: 141,691,936 (GRCm39) |
R400H |
probably benign |
Het |
| Fv1 |
C |
T |
4: 147,954,595 (GRCm39) |
T387M |
probably damaging |
Het |
| Gatad1 |
T |
A |
5: 3,693,701 (GRCm39) |
D156V |
probably damaging |
Het |
| Gm4744 |
A |
G |
6: 40,927,367 (GRCm39) |
|
probably benign |
Het |
| Gm4799 |
G |
A |
10: 82,790,469 (GRCm39) |
|
noncoding transcript |
Het |
| Hadha |
A |
G |
5: 30,333,804 (GRCm39) |
F405S |
probably benign |
Het |
| Ifit3 |
T |
C |
19: 34,565,651 (GRCm39) |
V399A |
probably benign |
Het |
| Il1rapl1 |
G |
T |
X: 86,348,469 (GRCm39) |
Y150* |
probably null |
Het |
| Kirrel1 |
T |
C |
3: 86,997,779 (GRCm39) |
E248G |
probably benign |
Het |
| Krt72 |
C |
A |
15: 101,686,769 (GRCm39) |
K392N |
probably damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,444,528 (GRCm39) |
G309D |
probably damaging |
Het |
| Mc3r |
T |
G |
2: 172,091,300 (GRCm39) |
I174S |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,282,273 (GRCm39) |
D52G |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,168,256 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
G |
A |
1: 127,325,378 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
A |
T |
7: 64,039,252 (GRCm39) |
F239L |
probably damaging |
Het |
| Mrps7 |
T |
C |
11: 115,495,023 (GRCm39) |
S13P |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,943,323 (GRCm39) |
T527A |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,046,885 (GRCm39) |
H1156Y |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 68,989,129 (GRCm39) |
E120G |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,779,706 (GRCm39) |
E624G |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,767,079 (GRCm39) |
D99G |
probably null |
Het |
| Or4c102 |
G |
A |
2: 88,422,492 (GRCm39) |
V115I |
possibly damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,539 (GRCm39) |
I45T |
probably damaging |
Het |
| Or52n4b |
G |
A |
7: 108,143,782 (GRCm39) |
V15I |
probably benign |
Het |
| Or5p70 |
A |
C |
7: 107,995,289 (GRCm39) |
K321Q |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,598,146 (GRCm39) |
N802S |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,789,796 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,304,443 (GRCm39) |
I1670N |
possibly damaging |
Het |
| Pld5 |
A |
G |
1: 175,803,087 (GRCm39) |
F393L |
probably benign |
Het |
| Plekhg1 |
C |
A |
10: 3,907,361 (GRCm39) |
D759E |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,277,888 (GRCm39) |
S403P |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,510,503 (GRCm39) |
F432L |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,664,230 (GRCm39) |
I406T |
probably benign |
Het |
| Ptpn5 |
G |
T |
7: 46,739,623 (GRCm39) |
D185E |
probably benign |
Het |
| Rad50 |
G |
T |
11: 53,578,978 (GRCm39) |
Q527K |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,530,507 (GRCm39) |
F613L |
probably benign |
Het |
| Sec16a |
T |
A |
2: 26,330,057 (GRCm39) |
M653L |
probably benign |
Het |
| Sh3bp2 |
T |
C |
5: 34,712,920 (GRCm39) |
|
probably null |
Het |
| Slc22a3 |
G |
A |
17: 12,725,991 (GRCm39) |
T74I |
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,932,057 (GRCm39) |
L272P |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,536 (GRCm39) |
D869G |
possibly damaging |
Het |
| Slc5a11 |
T |
A |
7: 122,859,731 (GRCm39) |
V291E |
probably damaging |
Het |
| Slc6a19 |
C |
A |
13: 73,832,167 (GRCm39) |
A470S |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,672,089 (GRCm39) |
M1655T |
possibly damaging |
Het |
| Srgap2 |
A |
G |
1: 131,220,437 (GRCm39) |
L179P |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,622 (GRCm39) |
D191G |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,796,351 (GRCm39) |
Y485H |
probably damaging |
Het |
| Trim12c |
T |
A |
7: 103,990,095 (GRCm39) |
|
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,610,170 (GRCm39) |
T213A |
probably damaging |
Het |
| Upp1 |
T |
A |
11: 9,084,708 (GRCm39) |
|
probably null |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,198 (GRCm39) |
I16L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,814,850 (GRCm39) |
D214E |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,118 (GRCm39) |
Y177N |
probably damaging |
Het |
| Vmn2r99 |
T |
G |
17: 19,582,521 (GRCm39) |
I42S |
possibly damaging |
Het |
| Zeb1 |
A |
T |
18: 5,761,399 (GRCm39) |
K232N |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,875,603 (GRCm39) |
I494T |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,143 (GRCm39) |
D38G |
probably damaging |
Het |
|
| Other mutations in Slfn8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Slfn8
|
APN |
11 |
82,904,310 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01418:Slfn8
|
APN |
11 |
82,895,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01620:Slfn8
|
APN |
11 |
82,895,059 (GRCm39) |
nonsense |
probably null |
|
|
IGL01875:Slfn8
|
APN |
11 |
82,894,905 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01896:Slfn8
|
APN |
11 |
82,894,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01929:Slfn8
|
APN |
11 |
82,894,231 (GRCm39) |
nonsense |
probably null |
|
|
IGL02111:Slfn8
|
APN |
11 |
82,895,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02136:Slfn8
|
APN |
11 |
82,894,291 (GRCm39) |
nonsense |
probably null |
|
|
IGL02165:Slfn8
|
APN |
11 |
82,908,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02645:Slfn8
|
APN |
11 |
82,894,380 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02682:Slfn8
|
APN |
11 |
82,894,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02689:Slfn8
|
APN |
11 |
82,907,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Slfn8
|
APN |
11 |
82,894,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03037:Slfn8
|
APN |
11 |
82,894,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03185:Slfn8
|
APN |
11 |
82,908,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03243:Slfn8
|
APN |
11 |
82,894,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03286:Slfn8
|
APN |
11 |
82,904,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
seven_dwarfs
|
UTSW |
11 |
82,894,160 (GRCm39) |
missense |
probably benign |
0.09 |
|
vanwinkle
|
UTSW |
11 |
82,908,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Slfn8
|
UTSW |
11 |
82,894,169 (GRCm39) |
nonsense |
probably null |
|
|
R0368:Slfn8
|
UTSW |
11 |
82,907,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Slfn8
|
UTSW |
11 |
82,895,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Slfn8
|
UTSW |
11 |
82,894,647 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0894:Slfn8
|
UTSW |
11 |
82,894,407 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1006:Slfn8
|
UTSW |
11 |
82,894,337 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1181:Slfn8
|
UTSW |
11 |
82,907,571 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1187:Slfn8
|
UTSW |
11 |
82,894,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Slfn8
|
UTSW |
11 |
82,907,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Slfn8
|
UTSW |
11 |
82,894,447 (GRCm39) |
nonsense |
probably null |
|
|
R2005:Slfn8
|
UTSW |
11 |
82,894,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2363:Slfn8
|
UTSW |
11 |
82,894,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Slfn8
|
UTSW |
11 |
82,908,280 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3890:Slfn8
|
UTSW |
11 |
82,895,270 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3917:Slfn8
|
UTSW |
11 |
82,907,819 (GRCm39) |
nonsense |
probably null |
|
|
R4559:Slfn8
|
UTSW |
11 |
82,895,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Slfn8
|
UTSW |
11 |
82,908,332 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4767:Slfn8
|
UTSW |
11 |
82,894,023 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4773:Slfn8
|
UTSW |
11 |
82,908,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Slfn8
|
UTSW |
11 |
82,908,540 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4916:Slfn8
|
UTSW |
11 |
82,907,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Slfn8
|
UTSW |
11 |
82,894,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5107:Slfn8
|
UTSW |
11 |
82,907,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5130:Slfn8
|
UTSW |
11 |
82,894,647 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5165:Slfn8
|
UTSW |
11 |
82,907,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5238:Slfn8
|
UTSW |
11 |
82,904,214 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5282:Slfn8
|
UTSW |
11 |
82,908,550 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5311:Slfn8
|
UTSW |
11 |
82,894,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Slfn8
|
UTSW |
11 |
82,895,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5617:Slfn8
|
UTSW |
11 |
82,895,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5782:Slfn8
|
UTSW |
11 |
82,907,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5823:Slfn8
|
UTSW |
11 |
82,907,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5886:Slfn8
|
UTSW |
11 |
82,894,160 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5933:Slfn8
|
UTSW |
11 |
82,894,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6151:Slfn8
|
UTSW |
11 |
82,908,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Slfn8
|
UTSW |
11 |
82,894,690 (GRCm39) |
makesense |
probably null |
|
|
R6191:Slfn8
|
UTSW |
11 |
82,907,626 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6419:Slfn8
|
UTSW |
11 |
82,894,881 (GRCm39) |
splice site |
probably null |
|
|
R6925:Slfn8
|
UTSW |
11 |
82,904,243 (GRCm39) |
nonsense |
probably null |
|
|
R7065:Slfn8
|
UTSW |
11 |
82,907,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7380:Slfn8
|
UTSW |
11 |
82,894,566 (GRCm39) |
missense |
not run |
|
|
R7414:Slfn8
|
UTSW |
11 |
82,907,618 (GRCm39) |
nonsense |
probably null |
|
|
R7819:Slfn8
|
UTSW |
11 |
82,895,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Slfn8
|
UTSW |
11 |
82,895,441 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8517:Slfn8
|
UTSW |
11 |
82,894,968 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8804:Slfn8
|
UTSW |
11 |
82,907,639 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8814:Slfn8
|
UTSW |
11 |
82,907,505 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9069:Slfn8
|
UTSW |
11 |
82,907,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Slfn8
|
UTSW |
11 |
82,894,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Slfn8
|
UTSW |
11 |
82,908,532 (GRCm39) |
missense |
probably benign |
|
|
R9678:Slfn8
|
UTSW |
11 |
82,907,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9708:Slfn8
|
UTSW |
11 |
82,894,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9764:Slfn8
|
UTSW |
11 |
82,907,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Slfn8
|
UTSW |
11 |
82,907,754 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Slfn8
|
UTSW |
11 |
82,894,359 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGTCCTGAAGGACCTCGACTTG -3'
(R):5'- TCATTTGAAGGAGAGTGGCCTCCC -3'
Sequencing Primer
(F):5'- CTGAAGGACCTCGACTTGATTTAAC -3'
(R):5'- GCGTAAAGGCTATTCTCTCCAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation