Incidental Mutation 'R2005:Slfn8'
ID |
225402 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn8
|
Ensembl Gene |
ENSMUSG00000035208 |
Gene Name |
schlafen 8 |
Synonyms |
|
MMRRC Submission |
040014-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R2005 (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 82894976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 610
(M610K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
AlphaFold |
B1ARD8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038141
AA Change: M610K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040060 Gene: ENSMUSG00000035208 AA Change: M610K
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: M610K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090513 Gene: ENSMUSG00000035208 AA Change: M610K
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 damaging
Transcript: ENSMUST00000130822
AA Change: M610K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114417 Gene: ENSMUSG00000035208 AA Change: M610K
Domain | Start | End | E-Value | Type |
Pfam:AAA_4
|
205 |
343 |
3.7e-19 |
PFAM |
SCOP:d1ly1a_
|
593 |
625 |
4e-3 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000131883
AA Change: M386K
|
SMART Domains |
Protein: ENSMUSP00000121831 Gene: ENSMUSG00000035208 AA Change: M386K
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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
G |
A |
12: 118,841,562 (GRCm39) |
A961V |
probably benign |
Het |
Adcy10 |
A |
G |
1: 165,352,591 (GRCm39) |
Y475C |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,150,799 (GRCm39) |
M1145V |
probably benign |
Het |
Akr1c21 |
A |
G |
13: 4,624,214 (GRCm39) |
T23A |
probably damaging |
Het |
Ankrd33b |
A |
T |
15: 31,297,814 (GRCm39) |
S314R |
probably damaging |
Het |
Apc |
T |
C |
18: 34,443,962 (GRCm39) |
|
probably null |
Het |
Atg9a |
T |
A |
1: 75,162,635 (GRCm39) |
Q460L |
probably benign |
Het |
Birc2 |
C |
T |
9: 7,860,342 (GRCm39) |
C292Y |
probably damaging |
Het |
Capn5 |
T |
C |
7: 97,778,570 (GRCm39) |
I350V |
probably benign |
Het |
Cc2d2a |
G |
A |
5: 43,883,715 (GRCm39) |
|
probably null |
Het |
Cdh22 |
T |
A |
2: 165,022,843 (GRCm39) |
E76V |
probably damaging |
Het |
Cdh8 |
T |
C |
8: 99,760,103 (GRCm39) |
|
probably null |
Het |
Cdkn1b |
ATTCTTCTTC |
ATTCTTCTTCTTC |
6: 134,898,919 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
T |
A |
10: 92,720,630 (GRCm39) |
D2608V |
unknown |
Het |
Crebrf |
T |
C |
17: 26,961,857 (GRCm39) |
V318A |
possibly damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,430,720 (GRCm39) |
N351Y |
possibly damaging |
Het |
Cyp2c67 |
A |
T |
19: 39,631,789 (GRCm39) |
M136K |
probably damaging |
Het |
Ddx10 |
A |
G |
9: 53,151,775 (GRCm39) |
|
probably null |
Het |
Ddx47 |
A |
G |
6: 134,995,084 (GRCm39) |
N92S |
probably benign |
Het |
Ddx50 |
T |
A |
10: 62,476,243 (GRCm39) |
H306L |
probably benign |
Het |
Dnajc27 |
A |
G |
12: 4,147,317 (GRCm39) |
T167A |
possibly damaging |
Het |
Dscam |
T |
G |
16: 96,840,120 (GRCm39) |
K162N |
probably benign |
Het |
Eif4h |
G |
A |
5: 134,656,531 (GRCm39) |
T53I |
probably benign |
Het |
Elmo2 |
T |
C |
2: 165,140,199 (GRCm39) |
N332S |
probably benign |
Het |
Ergic3 |
A |
G |
2: 155,853,028 (GRCm39) |
N157S |
possibly damaging |
Het |
F2rl1 |
G |
T |
13: 95,649,782 (GRCm39) |
R367S |
probably damaging |
Het |
Fbxo36 |
G |
A |
1: 84,877,790 (GRCm39) |
A151T |
probably benign |
Het |
Foxf2 |
G |
T |
13: 31,810,124 (GRCm39) |
R21L |
unknown |
Het |
Gmip |
T |
A |
8: 70,266,693 (GRCm39) |
H269Q |
probably benign |
Het |
Gng4 |
T |
A |
13: 13,980,751 (GRCm39) |
V32E |
probably benign |
Het |
Grm3 |
T |
C |
5: 9,639,793 (GRCm39) |
Y84C |
possibly damaging |
Het |
Helz2 |
C |
T |
2: 180,873,122 (GRCm39) |
R2396H |
probably benign |
Het |
Icosl |
A |
T |
10: 77,907,787 (GRCm39) |
M116L |
possibly damaging |
Het |
Itgb3bp |
A |
C |
4: 99,702,295 (GRCm39) |
N16K |
probably benign |
Het |
Kcnt2 |
A |
G |
1: 140,480,756 (GRCm39) |
M824V |
probably damaging |
Het |
Mki67 |
T |
A |
7: 135,300,238 (GRCm39) |
K1599* |
probably null |
Het |
Mmp25 |
G |
A |
17: 23,859,216 (GRCm39) |
R144W |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,953,068 (GRCm39) |
I450F |
possibly damaging |
Het |
Mroh2b |
A |
T |
15: 4,946,640 (GRCm39) |
K480M |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,979,351 (GRCm39) |
D445E |
probably benign |
Het |
Npbwr1 |
T |
A |
1: 5,986,570 (GRCm39) |
S315C |
probably damaging |
Het |
Or10ag56 |
T |
A |
2: 87,139,792 (GRCm39) |
S240T |
probably benign |
Het |
Or1e19 |
A |
T |
11: 73,316,065 (GRCm39) |
V248E |
probably damaging |
Het |
Or5d38 |
A |
G |
2: 87,954,891 (GRCm39) |
L146P |
probably damaging |
Het |
Or7g16 |
G |
A |
9: 18,726,801 (GRCm39) |
S263L |
probably benign |
Het |
Pard3b |
A |
T |
1: 62,184,050 (GRCm39) |
E183D |
probably benign |
Het |
Pde10a |
G |
A |
17: 9,147,923 (GRCm39) |
|
probably null |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Prdm13 |
T |
C |
4: 21,685,695 (GRCm39) |
|
probably benign |
Het |
Rc3h2 |
T |
A |
2: 37,279,765 (GRCm39) |
K461* |
probably null |
Het |
Reep2 |
C |
T |
18: 34,978,674 (GRCm39) |
T117M |
probably damaging |
Het |
Rhbdd1 |
A |
G |
1: 82,318,531 (GRCm39) |
N138S |
probably benign |
Het |
Rnf19a |
A |
T |
15: 36,241,916 (GRCm39) |
F708I |
possibly damaging |
Het |
Robo2 |
G |
A |
16: 73,730,003 (GRCm39) |
H1069Y |
possibly damaging |
Het |
Rpl9 |
C |
T |
5: 65,546,878 (GRCm39) |
V112I |
probably benign |
Het |
Sec16a |
A |
C |
2: 26,329,092 (GRCm39) |
S974R |
probably benign |
Het |
Sfrp5 |
A |
G |
19: 42,187,275 (GRCm39) |
M265T |
probably benign |
Het |
Skint7 |
T |
C |
4: 111,842,047 (GRCm39) |
I305T |
probably benign |
Het |
Slc6a7 |
T |
C |
18: 61,134,713 (GRCm39) |
D454G |
possibly damaging |
Het |
Slco6c1 |
A |
G |
1: 97,009,214 (GRCm39) |
I407T |
probably damaging |
Het |
Spidr |
A |
G |
16: 15,865,913 (GRCm39) |
S299P |
probably damaging |
Het |
Sptbn4 |
C |
T |
7: 27,065,844 (GRCm39) |
W2034* |
probably null |
Het |
Stard9 |
T |
A |
2: 120,495,426 (GRCm39) |
F100L |
possibly damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Stc1 |
T |
C |
14: 69,269,096 (GRCm39) |
|
probably null |
Het |
Sun2 |
T |
C |
15: 79,610,825 (GRCm39) |
E667G |
possibly damaging |
Het |
Tacc2 |
T |
C |
7: 130,333,280 (GRCm39) |
S511P |
probably damaging |
Het |
Tasp1 |
T |
G |
2: 139,819,598 (GRCm39) |
K202Q |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,939,546 (GRCm39) |
F501L |
probably damaging |
Het |
Tgds |
A |
G |
14: 118,368,068 (GRCm39) |
V35A |
possibly damaging |
Het |
Tubgcp6 |
G |
A |
15: 88,988,369 (GRCm39) |
T860I |
probably benign |
Het |
Twf1 |
C |
T |
15: 94,483,328 (GRCm39) |
|
probably null |
Het |
Vangl1 |
A |
G |
3: 102,070,782 (GRCm39) |
S385P |
probably benign |
Het |
Vmn2r117 |
A |
G |
17: 23,696,618 (GRCm39) |
I263T |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,213,004 (GRCm39) |
L892P |
possibly damaging |
Het |
Wnk4 |
T |
C |
11: 101,154,716 (GRCm39) |
C302R |
probably damaging |
Het |
Zfp395 |
A |
G |
14: 65,626,334 (GRCm39) |
E191G |
possibly damaging |
Het |
Zkscan17 |
A |
G |
11: 59,383,042 (GRCm39) |
L302P |
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 |
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 |
|
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'- GAGTATGTCATAGTCCCAGCAACAC -3'
(R):5'- TGCAGGCCCTTGTGATTGTC -3'
Sequencing Primer
(F):5'- CATTTGACTGACTAGTTCCCAAG -3'
(R):5'- GTGATTGTCTTGCTCAACTTCAG -3'
|
Posted On |
2014-08-25 |