Incidental Mutation 'R4939:Slfn8'
ID |
382939 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn8
|
Ensembl Gene |
ENSMUSG00000035208 |
Gene Name |
schlafen 8 |
Synonyms |
|
MMRRC Submission |
042538-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R4939 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
82892984-82911636 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82894111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 843
(A843T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090513
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
AlphaFold |
B1ARD8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038141
AA Change: A843T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000040060 Gene: ENSMUSG00000035208 AA Change: A843T
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: A843T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000090513 Gene: ENSMUSG00000035208 AA Change: A843T
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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
T |
4: 86,161,962 (GRCm39) |
Y365F |
possibly damaging |
Het |
Atp2a1 |
T |
C |
7: 126,049,288 (GRCm39) |
M585V |
probably benign |
Het |
Brca1 |
A |
G |
11: 101,398,876 (GRCm39) |
V1572A |
probably benign |
Het |
C1ql4 |
A |
T |
15: 98,985,521 (GRCm39) |
M30K |
probably damaging |
Het |
Ccdc73 |
A |
G |
2: 104,822,502 (GRCm39) |
|
probably null |
Het |
Cdk6 |
A |
T |
5: 3,394,377 (GRCm39) |
D4V |
probably null |
Het |
Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
Clic4 |
T |
C |
4: 134,950,852 (GRCm39) |
E113G |
probably benign |
Het |
Creld1 |
C |
A |
6: 113,465,140 (GRCm39) |
H122Q |
probably benign |
Het |
Cyp4a29 |
G |
A |
4: 115,104,873 (GRCm39) |
|
probably null |
Het |
Dnaaf3 |
A |
T |
7: 4,530,144 (GRCm39) |
S246R |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,613,481 (GRCm39) |
T3925S |
probably damaging |
Het |
Dnajc21 |
T |
A |
15: 10,449,683 (GRCm39) |
D446V |
probably damaging |
Het |
Dock8 |
A |
T |
19: 25,099,764 (GRCm39) |
Y629F |
probably damaging |
Het |
Duxf4 |
T |
C |
10: 58,071,425 (GRCm39) |
N263S |
probably benign |
Het |
E2f8 |
A |
T |
7: 48,521,886 (GRCm39) |
N405K |
probably benign |
Het |
Flg |
A |
G |
3: 93,187,154 (GRCm39) |
N202S |
probably benign |
Het |
Glyatl3 |
A |
G |
17: 41,220,914 (GRCm39) |
|
probably null |
Het |
Gm38999 |
A |
G |
7: 43,077,885 (GRCm39) |
T63A |
possibly damaging |
Het |
Grap |
A |
G |
11: 61,551,124 (GRCm39) |
Y52C |
probably damaging |
Het |
Haus2 |
T |
A |
2: 120,449,517 (GRCm39) |
I187K |
probably damaging |
Het |
Heatr5b |
T |
C |
17: 79,069,689 (GRCm39) |
E1686G |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,856,484 (GRCm39) |
D3944G |
probably damaging |
Het |
Hexd |
A |
T |
11: 121,098,542 (GRCm39) |
M9L |
probably benign |
Het |
Hoxa3 |
T |
C |
6: 52,147,656 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,235,342 (GRCm39) |
I126F |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,417,519 (GRCm39) |
C123* |
probably null |
Het |
Jmjd1c |
T |
A |
10: 67,081,916 (GRCm39) |
N2346K |
possibly damaging |
Het |
Kctd9 |
A |
G |
14: 67,967,135 (GRCm39) |
Y37C |
probably damaging |
Het |
Kmt5b |
A |
C |
19: 3,865,245 (GRCm39) |
S747R |
possibly damaging |
Het |
Krt26 |
T |
C |
11: 99,225,522 (GRCm39) |
M320V |
probably benign |
Het |
Lama1 |
T |
G |
17: 68,044,470 (GRCm39) |
V123G |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,002,582 (GRCm39) |
D1103G |
probably damaging |
Het |
Lepr |
A |
T |
4: 101,590,635 (GRCm39) |
K71I |
possibly damaging |
Het |
Llgl1 |
A |
T |
11: 60,600,805 (GRCm39) |
|
probably null |
Het |
Mcoln2 |
A |
T |
3: 145,897,996 (GRCm39) |
H39L |
probably benign |
Het |
Mtrex |
T |
C |
13: 113,046,426 (GRCm39) |
D308G |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,057,371 (GRCm39) |
T315S |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,975,165 (GRCm39) |
|
probably null |
Het |
Nlrp9b |
G |
T |
7: 19,758,421 (GRCm39) |
V553F |
probably damaging |
Het |
Nubpl |
A |
G |
12: 52,227,878 (GRCm39) |
N129S |
probably damaging |
Het |
Nup214 |
C |
A |
2: 31,873,171 (GRCm39) |
T255K |
probably benign |
Het |
Or10j3 |
T |
C |
1: 173,031,030 (GRCm39) |
Y36H |
possibly damaging |
Het |
Or2t46 |
G |
T |
11: 58,472,037 (GRCm39) |
M122I |
probably damaging |
Het |
Or2y17 |
A |
G |
11: 49,231,376 (GRCm39) |
T6A |
probably benign |
Het |
Or4d1 |
G |
T |
11: 87,804,950 (GRCm39) |
P261T |
probably damaging |
Het |
Or52z14 |
T |
C |
7: 103,253,458 (GRCm39) |
V199A |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,219 (GRCm39) |
N95K |
probably benign |
Het |
Orc3 |
G |
A |
4: 34,593,126 (GRCm39) |
Q256* |
probably null |
Het |
Pbrm1 |
A |
G |
14: 30,783,580 (GRCm39) |
M566V |
probably damaging |
Het |
Pde6b |
A |
G |
5: 108,569,363 (GRCm39) |
I357V |
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,704,484 (GRCm39) |
I484T |
possibly damaging |
Het |
Plvap |
A |
G |
8: 71,964,083 (GRCm39) |
V93A |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,142,697 (GRCm39) |
Y1586C |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,255,817 (GRCm39) |
L196Q |
possibly damaging |
Het |
Ptpn13 |
T |
G |
5: 103,665,335 (GRCm39) |
|
probably null |
Het |
Ranbp17 |
T |
C |
11: 33,169,223 (GRCm39) |
N997S |
probably benign |
Het |
Rpap2 |
G |
T |
5: 107,751,491 (GRCm39) |
|
probably null |
Het |
Rrm1 |
T |
C |
7: 102,116,131 (GRCm39) |
V683A |
probably benign |
Het |
Ruvbl1 |
A |
G |
6: 88,460,021 (GRCm39) |
|
probably null |
Het |
Sh3pxd2a |
A |
G |
19: 47,266,843 (GRCm39) |
Y277H |
probably damaging |
Het |
Shank1 |
C |
T |
7: 43,975,586 (GRCm39) |
P477S |
unknown |
Het |
Shtn1 |
T |
C |
19: 59,010,633 (GRCm39) |
E278G |
probably benign |
Het |
Skap2 |
T |
A |
6: 51,899,303 (GRCm39) |
I109F |
possibly damaging |
Het |
Slc28a3 |
A |
C |
13: 58,706,395 (GRCm39) |
I615M |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,526,788 (GRCm39) |
L780P |
probably damaging |
Het |
Slc5a4b |
T |
C |
10: 75,917,301 (GRCm39) |
E245G |
probably benign |
Het |
Sncaip |
A |
T |
18: 53,040,335 (GRCm39) |
Q843L |
possibly damaging |
Het |
Spidr |
T |
A |
16: 15,958,610 (GRCm39) |
K51* |
probably null |
Het |
Spopfm2 |
A |
T |
3: 94,083,540 (GRCm39) |
Y90* |
probably null |
Het |
Tas2r123 |
T |
C |
6: 132,824,808 (GRCm39) |
V235A |
probably benign |
Het |
Tgfbr3 |
T |
C |
5: 107,278,335 (GRCm39) |
D757G |
probably benign |
Het |
Tmem132d |
A |
T |
5: 127,873,139 (GRCm39) |
V490D |
probably damaging |
Het |
Top2a |
T |
A |
11: 98,900,918 (GRCm39) |
H557L |
probably damaging |
Het |
Trafd1 |
A |
G |
5: 121,513,254 (GRCm39) |
I328T |
probably benign |
Het |
Trappc11 |
G |
A |
8: 47,972,700 (GRCm39) |
A291V |
probably damaging |
Het |
Tuba1c |
A |
G |
15: 98,935,835 (GRCm39) |
Y432C |
probably damaging |
Het |
Utp11 |
T |
G |
4: 124,577,043 (GRCm39) |
R109S |
possibly damaging |
Het |
Vmn1r159 |
T |
G |
7: 22,542,316 (GRCm39) |
T239P |
probably damaging |
Het |
Vwce |
A |
T |
19: 10,622,414 (GRCm39) |
N239Y |
probably damaging |
Het |
Yes1 |
T |
C |
5: 32,802,457 (GRCm39) |
|
probably null |
Het |
Zfand6 |
A |
C |
7: 84,265,030 (GRCm39) |
*224G |
probably null |
Het |
Zfp408 |
A |
T |
2: 91,475,450 (GRCm39) |
I668N |
probably damaging |
Het |
Zfp647 |
TGCACG |
TGCACGCACG |
15: 76,795,244 (GRCm39) |
|
probably null |
Het |
Zfp946 |
T |
C |
17: 22,674,418 (GRCm39) |
F391L |
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 |
|
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 |
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'- ATGCCTCCGTTGAGCTATGC -3'
(R):5'- TCCCAAAGTGTATCAGGCAAC -3'
Sequencing Primer
(F):5'- TTGAGCTATGCCCCTCAGGAG -3'
(R):5'- GAACAATTCACTTTGGAAGACATGG -3'
|
Posted On |
2016-04-27 |