Incidental Mutation 'R5782:Slfn8'
| ID |
447815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| MMRRC Submission |
043379-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5782 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82892984-82911636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 82907867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 46
(N46K)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038141
AA Change: N225K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: N225K
| 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: N225K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: N225K
| 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: N225K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: N225K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130822
AA Change: N225K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: N225K
| 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 damaging
Transcript: ENSMUST00000131883
AA Change: N46K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: N46K
| 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: N225K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
T |
17: 33,652,735 (GRCm39) |
Q265L |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,189,494 (GRCm39) |
|
probably null |
Het |
| Agt |
A |
T |
8: 125,283,870 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
G |
8: 123,626,756 (GRCm39) |
L142P |
probably damaging |
Het |
| Arhgef19 |
C |
A |
4: 140,983,623 (GRCm39) |
Q719K |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,874,466 (GRCm39) |
V569A |
probably benign |
Het |
| Atrnl1 |
G |
T |
19: 57,741,718 (GRCm39) |
W1159L |
possibly damaging |
Het |
| Atxn2 |
T |
C |
5: 121,935,373 (GRCm39) |
Y325H |
probably damaging |
Het |
| Brwd1 |
A |
T |
16: 95,844,243 (GRCm39) |
Y770* |
probably null |
Het |
| Cdc20 |
T |
C |
4: 118,290,239 (GRCm39) |
E474G |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,802,412 (GRCm39) |
L254P |
probably benign |
Het |
| Cep83 |
A |
T |
10: 94,584,894 (GRCm39) |
N333I |
probably damaging |
Het |
| Cox4i2 |
A |
C |
2: 152,606,731 (GRCm39) |
D150A |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,770,921 (GRCm39) |
I314M |
probably damaging |
Het |
| Cuedc1 |
A |
G |
11: 88,060,858 (GRCm39) |
Y67C |
probably damaging |
Het |
| Cyp2j9 |
C |
T |
4: 96,462,142 (GRCm39) |
V380I |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,525,833 (GRCm39) |
N302S |
probably benign |
Het |
| Foxa1 |
T |
A |
12: 57,589,302 (GRCm39) |
H306L |
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,293,260 (GRCm39) |
S204P |
probably damaging |
Het |
| Hspa13 |
C |
A |
16: 75,554,985 (GRCm39) |
R367L |
probably damaging |
Het |
| Kcnk2 |
T |
G |
1: 188,988,776 (GRCm39) |
D267A |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 57,998,396 (GRCm39) |
Y68H |
probably damaging |
Het |
| Khdc4 |
T |
G |
3: 88,618,985 (GRCm39) |
V563G |
probably damaging |
Het |
| Klf7 |
C |
T |
1: 64,081,570 (GRCm39) |
E253K |
possibly damaging |
Het |
| Lcn12 |
A |
T |
2: 25,383,769 (GRCm39) |
F34I |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,386 (GRCm39) |
R401W |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,593,350 (GRCm39) |
S86T |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,899 (GRCm39) |
I81M |
probably benign |
Het |
| Mtus1 |
T |
A |
8: 41,535,764 (GRCm39) |
I651F |
probably damaging |
Het |
| Myl2 |
T |
A |
5: 122,242,933 (GRCm39) |
F106L |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,154,059 (GRCm39) |
K2351* |
probably null |
Het |
| Or14c45 |
T |
A |
7: 86,176,421 (GRCm39) |
I152N |
probably damaging |
Het |
| Or52e5 |
T |
C |
7: 104,718,956 (GRCm39) |
I94T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Parg |
A |
T |
14: 31,996,862 (GRCm39) |
R318* |
probably null |
Het |
| Pcdhga3 |
C |
T |
18: 37,809,353 (GRCm39) |
S602F |
possibly damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,480,223 (GRCm39) |
V2028A |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,128,824 (GRCm39) |
T3960A |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,759,233 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Psma6 |
A |
G |
12: 55,457,041 (GRCm39) |
N109S |
possibly damaging |
Het |
| Ptpro |
A |
T |
6: 137,376,496 (GRCm39) |
I659F |
possibly damaging |
Het |
| Rap1gds1 |
C |
G |
3: 138,664,840 (GRCm39) |
E288D |
possibly damaging |
Het |
| Reln |
C |
T |
5: 22,223,054 (GRCm39) |
R993K |
probably benign |
Het |
| Saxo1 |
T |
A |
4: 86,364,044 (GRCm39) |
L146F |
probably damaging |
Het |
| Six4 |
A |
G |
12: 73,150,832 (GRCm39) |
V571A |
probably benign |
Het |
| Slc2a10 |
C |
A |
2: 165,356,758 (GRCm39) |
Y139* |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 55,550,501 (GRCm39) |
I66V |
possibly damaging |
Het |
| Smc6 |
G |
C |
12: 11,340,835 (GRCm39) |
A496P |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,446,070 (GRCm39) |
N902K |
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,644,584 (GRCm39) |
Y114N |
possibly damaging |
Het |
| Sult2b1 |
C |
T |
7: 45,380,770 (GRCm39) |
V271M |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,542,246 (GRCm39) |
I1920V |
probably benign |
Het |
| Trbc2 |
A |
G |
6: 41,523,871 (GRCm39) |
|
probably benign |
Het |
| Trpc2 |
A |
G |
7: 101,733,186 (GRCm39) |
D419G |
possibly damaging |
Het |
| Trpm7 |
T |
C |
2: 126,639,634 (GRCm39) |
N1654S |
probably benign |
Het |
| Tsku |
A |
T |
7: 98,002,057 (GRCm39) |
D91E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,606,355 (GRCm39) |
R18151S |
probably damaging |
Het |
| Tyr |
C |
T |
7: 87,142,224 (GRCm39) |
C112Y |
probably damaging |
Het |
| Ubash3a |
G |
A |
17: 31,454,477 (GRCm39) |
G435S |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,603,001 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,253 (GRCm39) |
C558S |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,418,269 (GRCm39) |
C2943Y |
unknown |
Het |
| Zfp1002 |
T |
C |
2: 150,097,438 (GRCm39) |
E25G |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,219,128 (GRCm39) |
S384P |
possibly damaging |
Het |
| Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
| Zfp575 |
C |
A |
7: 24,285,027 (GRCm39) |
G205C |
possibly damaging |
Het |
| Zfp740 |
G |
T |
15: 102,116,801 (GRCm39) |
|
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,133,737 (GRCm39) |
E265G |
possibly 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 |
|
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 |
|
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'- ACACATCTATGACTCTGGTCTCATAAG -3'
(R):5'- GCTCCACCGGCTAAAATTCC -3'
Sequencing Primer
(F):5'- AGACACCTTGTCCTTGTCTTTAGATG -3'
(R):5'- AATTCCGAGAGCCATGTGTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation