Incidental Mutation 'R4684:Slfn8'
ID |
353539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn8
|
Ensembl Gene |
ENSMUSG00000035208 |
Gene Name |
schlafen 8 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R4684 (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 T
at 82908332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 70
(H70Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
AlphaFold |
B1ARD8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038141
AA Change: H70Q
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000040060 Gene: ENSMUSG00000035208 AA Change: H70Q
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 benign
Transcript: ENSMUST00000092838
AA Change: H70Q
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000090513 Gene: ENSMUSG00000035208 AA Change: H70Q
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
AA Change: H70Q
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103787 Gene: ENSMUSG00000035208 AA Change: H70Q
Domain | Start | End | E-Value | Type |
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130822
AA Change: H70Q
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000114417 Gene: ENSMUSG00000035208 AA Change: H70Q
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
AA Change: H70Q
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310039H08Rik |
T |
C |
17: 47,083,872 (GRCm39) |
V45A |
probably benign |
Het |
4921509C19Rik |
A |
G |
2: 151,313,791 (GRCm39) |
I629T |
unknown |
Het |
4933402N03Rik |
T |
C |
7: 130,740,413 (GRCm39) |
R268G |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,384,193 (GRCm39) |
R3882* |
probably null |
Het |
Adamts3 |
T |
G |
5: 89,850,866 (GRCm39) |
T558P |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,767,304 (GRCm39) |
N214S |
probably benign |
Het |
Arhgef4 |
A |
T |
1: 34,850,866 (GRCm39) |
|
probably null |
Het |
Boc |
C |
T |
16: 44,320,743 (GRCm39) |
A306T |
probably benign |
Het |
Capn10 |
T |
C |
1: 92,871,503 (GRCm39) |
F367S |
probably damaging |
Het |
Ccdc6 |
T |
C |
10: 70,025,086 (GRCm39) |
|
probably benign |
Het |
Cobll1 |
G |
T |
2: 64,929,372 (GRCm39) |
S688R |
possibly damaging |
Het |
Cpxm2 |
G |
T |
7: 131,650,767 (GRCm39) |
P631Q |
possibly damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,687,779 (GRCm39) |
V406A |
possibly damaging |
Het |
Cyp4a30b |
T |
A |
4: 115,312,200 (GRCm39) |
Y118N |
probably damaging |
Het |
Dgki |
A |
T |
6: 37,276,781 (GRCm39) |
|
probably benign |
Het |
Disp2 |
A |
G |
2: 118,623,237 (GRCm39) |
N1323S |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,326,138 (GRCm39) |
Y42* |
probably null |
Het |
Eps8l1 |
C |
A |
7: 4,476,944 (GRCm39) |
P471Q |
probably damaging |
Het |
Fam20a |
A |
C |
11: 109,612,513 (GRCm39) |
L10R |
unknown |
Het |
Fpr-rs4 |
T |
A |
17: 18,242,446 (GRCm39) |
I151K |
probably damaging |
Het |
Gga1 |
C |
A |
15: 78,769,509 (GRCm39) |
P161T |
probably damaging |
Het |
Gm9923 |
T |
A |
10: 72,145,306 (GRCm39) |
Y52* |
probably null |
Het |
Gucy2g |
A |
G |
19: 55,194,688 (GRCm39) |
F910L |
probably damaging |
Het |
H2-T5 |
A |
T |
17: 36,476,750 (GRCm39) |
H241Q |
possibly damaging |
Het |
Helz |
T |
C |
11: 107,539,971 (GRCm39) |
V315A |
probably damaging |
Het |
Hk2 |
T |
C |
6: 82,716,629 (GRCm39) |
Y301C |
probably damaging |
Het |
Htt |
C |
T |
5: 35,010,109 (GRCm39) |
P1521S |
probably damaging |
Het |
Iah1 |
T |
C |
12: 21,366,434 (GRCm39) |
M1T |
probably null |
Het |
Ik |
T |
C |
18: 36,885,467 (GRCm39) |
S287P |
probably damaging |
Het |
Itga1 |
T |
A |
13: 115,185,906 (GRCm39) |
D32V |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
Klk14 |
A |
G |
7: 43,341,392 (GRCm39) |
I15V |
probably benign |
Het |
Kng2 |
T |
C |
16: 22,806,391 (GRCm39) |
I603V |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,080,773 (GRCm39) |
I1267T |
possibly damaging |
Het |
Lrp1b |
A |
C |
2: 40,812,316 (GRCm39) |
L2430V |
probably benign |
Het |
Lrrn3 |
T |
G |
12: 41,504,243 (GRCm39) |
K25Q |
possibly damaging |
Het |
Lta4h |
T |
A |
10: 93,304,678 (GRCm39) |
N233K |
probably benign |
Het |
Mapk13 |
T |
C |
17: 28,989,023 (GRCm39) |
I53T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,666,430 (GRCm39) |
F123L |
probably damaging |
Het |
Myh4 |
G |
C |
11: 67,136,637 (GRCm39) |
D472H |
probably damaging |
Het |
Nipa2 |
A |
T |
7: 55,585,574 (GRCm39) |
N121K |
probably benign |
Het |
Nostrin |
C |
T |
2: 69,014,268 (GRCm39) |
T408M |
probably benign |
Het |
Oosp2 |
C |
T |
19: 11,627,017 (GRCm39) |
R102H |
probably damaging |
Het |
Or1j18 |
A |
G |
2: 36,624,686 (GRCm39) |
M118V |
probably damaging |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Osgin2 |
T |
A |
4: 16,001,946 (GRCm39) |
I202L |
probably benign |
Het |
Pbld2 |
C |
A |
10: 62,893,476 (GRCm39) |
R271S |
probably damaging |
Het |
Pex6 |
C |
T |
17: 47,023,027 (GRCm39) |
T201I |
probably benign |
Het |
Pilra |
T |
C |
5: 137,833,777 (GRCm39) |
I96M |
probably damaging |
Het |
Pllp |
T |
A |
8: 95,403,906 (GRCm39) |
D47V |
possibly damaging |
Het |
Plxna2 |
A |
G |
1: 194,444,902 (GRCm39) |
S765G |
probably benign |
Het |
Prkca |
A |
T |
11: 107,852,434 (GRCm39) |
Y100N |
probably damaging |
Het |
Prkg1 |
T |
A |
19: 31,641,579 (GRCm39) |
K35* |
probably null |
Het |
Psmc2 |
A |
G |
5: 22,008,263 (GRCm39) |
D389G |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,331,951 (GRCm39) |
T2387A |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,005,192 (GRCm39) |
N914S |
probably damaging |
Het |
Ruvbl1 |
C |
A |
6: 88,468,581 (GRCm39) |
T367K |
probably benign |
Het |
Scube2 |
C |
T |
7: 109,409,920 (GRCm39) |
R525H |
probably damaging |
Het |
Sec14l4 |
T |
C |
11: 3,985,200 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
T |
C |
2: 125,587,862 (GRCm39) |
D751G |
probably damaging |
Het |
Setd3 |
T |
C |
12: 108,074,949 (GRCm39) |
D402G |
probably benign |
Het |
Slc15a2 |
T |
A |
16: 36,578,211 (GRCm39) |
K359N |
probably damaging |
Het |
Slc25a21 |
A |
G |
12: 57,243,721 (GRCm39) |
S2P |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,647,576 (GRCm39) |
I944V |
probably benign |
Het |
Spg11 |
A |
G |
2: 121,895,557 (GRCm39) |
F1887S |
probably damaging |
Het |
Sptbn4 |
A |
T |
7: 27,066,160 (GRCm39) |
D649E |
possibly damaging |
Het |
Sptbn4 |
T |
C |
7: 27,063,844 (GRCm39) |
E879G |
probably damaging |
Het |
Stx5a |
C |
A |
19: 8,720,725 (GRCm39) |
R121S |
probably damaging |
Het |
Tbcd |
T |
C |
11: 121,384,597 (GRCm39) |
L26P |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,144,255 (GRCm39) |
D649G |
probably benign |
Het |
Tfam |
A |
G |
10: 71,073,677 (GRCm39) |
S32P |
probably benign |
Het |
Tmt1b |
G |
T |
10: 128,796,571 (GRCm39) |
C79* |
probably null |
Het |
Trmt44 |
C |
T |
5: 35,715,387 (GRCm39) |
R642H |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,965,145 (GRCm39) |
A1547T |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,044,003 (GRCm39) |
V519A |
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,217,088 (GRCm39) |
F1107L |
probably benign |
Het |
Usp5 |
A |
T |
6: 124,794,919 (GRCm39) |
V677E |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,643,307 (GRCm39) |
L605* |
probably null |
Het |
Utrn |
T |
C |
10: 12,620,984 (GRCm39) |
D229G |
probably damaging |
Het |
Uty |
A |
T |
Y: 1,176,502 (GRCm39) |
L178* |
probably null |
Het |
Vmn2r88 |
A |
T |
14: 51,650,791 (GRCm39) |
D168V |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,646,324 (GRCm39) |
V1476A |
probably damaging |
Het |
Vps13b |
C |
A |
15: 35,879,967 (GRCm39) |
T3014K |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,841,487 (GRCm39) |
H2506Y |
probably benign |
Het |
Vps37c |
T |
C |
19: 10,690,132 (GRCm39) |
V198A |
probably benign |
Het |
Zfc3h1 |
T |
C |
10: 115,259,290 (GRCm39) |
Y1621H |
probably benign |
Het |
Zfp251 |
T |
C |
15: 76,738,607 (GRCm39) |
D162G |
possibly damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,078 (GRCm39) |
T1994A |
probably benign |
Het |
Zfp791 |
A |
G |
8: 85,837,559 (GRCm39) |
Y102H |
probably benign |
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 |
R1501:Slfn8
|
UTSW |
11 |
82,894,006 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- TTCTCTTGAATCCATGGCAACC -3'
(R):5'- GCCCAGACTTGACCATCTAC -3'
Sequencing Primer
(F):5'- CTTGAATCCATGGCAACCTTAGAAG -3'
(R):5'- GACTTGACCATCTACGCAGGAG -3'
|
Posted On |
2015-10-21 |