Incidental Mutation 'R8517:Slfn8'
| ID |
656217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| MMRRC Submission |
067849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82892984-82911636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82894968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 613
(M613L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038141
AA Change: M613L
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: M613L
| 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 |
possibly damaging
Transcript: ENSMUST00000092838
AA Change: M613L
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: M613L
| 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 |
possibly damaging
Transcript: ENSMUST00000130822
AA Change: M613L
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: M613L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
3.7e-19 |
PFAM |
|
SCOP:d1ly1a_
|
593 |
625 |
4e-3 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: M389L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,861,206 (GRCm39) |
D131E |
probably damaging |
Het |
| Abca17 |
C |
A |
17: 24,536,207 (GRCm39) |
V487F |
probably benign |
Het |
| Anapc5 |
T |
C |
5: 122,959,093 (GRCm39) |
S41G |
probably benign |
Het |
| Aoc1 |
C |
T |
6: 48,883,644 (GRCm39) |
Q507* |
probably null |
Het |
| Ccdc171 |
G |
A |
4: 83,661,298 (GRCm39) |
R1136H |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,460,012 (GRCm39) |
D413G |
probably benign |
Het |
| Copz2 |
A |
G |
11: 96,744,309 (GRCm39) |
K74E |
possibly damaging |
Het |
| Cpsf4l |
C |
A |
11: 113,599,651 (GRCm39) |
A45S |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,838,207 (GRCm39) |
I710V |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,446,479 (GRCm39) |
R3348Q |
|
Het |
| Dchs2 |
A |
G |
3: 83,178,419 (GRCm39) |
I1157M |
probably damaging |
Het |
| Dcst1 |
A |
G |
3: 89,272,455 (GRCm39) |
F3L |
probably benign |
Het |
| Dennd5b |
A |
C |
6: 148,930,619 (GRCm39) |
C743G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,155,440 (GRCm39) |
E725G |
probably benign |
Het |
| Dnajc3 |
G |
T |
14: 119,190,589 (GRCm39) |
G51* |
probably null |
Het |
| Dyrk2 |
T |
C |
10: 118,696,926 (GRCm39) |
T111A |
probably benign |
Het |
| F5 |
T |
A |
1: 164,003,822 (GRCm39) |
F206I |
probably damaging |
Het |
| Fam217b |
T |
A |
2: 178,062,565 (GRCm39) |
S176R |
probably benign |
Het |
| Farsb |
A |
T |
1: 78,439,933 (GRCm39) |
L313* |
probably null |
Het |
| Fbh1 |
A |
G |
2: 11,782,241 (GRCm39) |
|
probably null |
Het |
| Fgd4 |
G |
A |
16: 16,240,509 (GRCm39) |
T740I |
probably benign |
Het |
| Gprc6a |
G |
T |
10: 51,507,337 (GRCm39) |
A64D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,253,723 (GRCm39) |
V1365E |
probably damaging |
Het |
| Hdc |
C |
G |
2: 126,439,890 (GRCm39) |
|
probably null |
Het |
| Igkv5-39 |
T |
G |
6: 69,877,553 (GRCm39) |
I68L |
possibly damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,531,636 (GRCm39) |
V425D |
probably damaging |
Het |
| Kcnj12 |
T |
C |
11: 60,960,199 (GRCm39) |
S166P |
probably benign |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,524 (GRCm39) |
C293* |
probably null |
Het |
| Map7 |
T |
C |
10: 20,137,581 (GRCm39) |
V251A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,100,244 (GRCm39) |
L1597M |
possibly damaging |
Het |
| Nmu |
T |
C |
5: 76,493,326 (GRCm39) |
E82G |
possibly damaging |
Het |
| Nup85 |
T |
C |
11: 115,455,390 (GRCm39) |
|
probably null |
Het |
| Nwd2 |
A |
G |
5: 63,948,925 (GRCm39) |
N166D |
probably damaging |
Het |
| Or52n2b |
T |
A |
7: 104,565,681 (GRCm39) |
H274L |
possibly damaging |
Het |
| Pbrm1 |
C |
A |
14: 30,789,739 (GRCm39) |
D784E |
probably benign |
Het |
| Pcdhgb1 |
T |
A |
18: 37,815,117 (GRCm39) |
M536K |
possibly damaging |
Het |
| Pml |
T |
A |
9: 58,127,651 (GRCm39) |
Q698L |
possibly damaging |
Het |
| Pon1 |
T |
C |
6: 5,171,769 (GRCm39) |
Y294C |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,973,849 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
A |
1: 22,522,246 (GRCm39) |
H484L |
probably damaging |
Het |
| Rpia |
C |
A |
6: 70,743,630 (GRCm39) |
V274L |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,225 (GRCm39) |
L424P |
probably damaging |
Het |
| Scnm1 |
A |
C |
3: 95,040,134 (GRCm39) |
|
probably null |
Het |
| Snph |
A |
G |
2: 151,435,641 (GRCm39) |
V429A |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,170,934 (GRCm39) |
D1022V |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Ttc8 |
A |
G |
12: 98,909,594 (GRCm39) |
N100D |
probably benign |
Het |
| Zbtb49 |
T |
A |
5: 38,357,997 (GRCm39) |
H752L |
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,110,043 (GRCm39) |
E244D |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,564,760 (GRCm39) |
|
probably null |
Het |
| Zfp46 |
A |
G |
4: 136,018,458 (GRCm39) |
T431A |
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 |
|
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 |
|
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'- TATGTCATAGTCCCAGCAACAC -3'
(R):5'- TGCAGGCCCTTGTGATTGTC -3'
Sequencing Primer
(F):5'- GCTATCTCAGATCATTTGACTGAC -3'
(R):5'- GTGATTGTCTTGCTCAACTTCAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation