Incidental Mutation 'R1187:Slfn8'
ID |
102283 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn8
|
Ensembl Gene |
ENSMUSG00000035208 |
Gene Name |
schlafen 8 |
Synonyms |
|
MMRRC Submission |
039259-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R1187 (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 82894314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 775
(V775E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090513
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
AlphaFold |
B1ARD8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038141
AA Change: V775E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040060 Gene: ENSMUSG00000035208 AA Change: V775E
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: V775E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090513 Gene: ENSMUSG00000035208 AA Change: V775E
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: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
T |
11: 9,478,981 (GRCm39) |
M4276I |
probably benign |
Het |
Apol7b |
A |
T |
15: 77,307,603 (GRCm39) |
F297L |
possibly damaging |
Het |
Capsl |
C |
T |
15: 9,457,807 (GRCm39) |
R9W |
probably damaging |
Het |
Catsperb |
T |
C |
12: 101,591,991 (GRCm39) |
V1107A |
probably benign |
Het |
Cip2a |
T |
A |
16: 48,820,656 (GRCm39) |
N132K |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,715,504 (GRCm39) |
I544M |
probably benign |
Het |
Cma2 |
T |
C |
14: 56,210,280 (GRCm39) |
V55A |
probably benign |
Het |
Col10a1 |
A |
T |
10: 34,270,834 (GRCm39) |
I269F |
probably benign |
Het |
Col26a1 |
G |
A |
5: 136,773,020 (GRCm39) |
H385Y |
probably damaging |
Het |
Ctdp1 |
A |
G |
18: 80,492,702 (GRCm39) |
Y598H |
probably damaging |
Het |
Dnajc1 |
A |
G |
2: 18,289,520 (GRCm39) |
S296P |
probably benign |
Het |
Dvl2 |
A |
T |
11: 69,896,962 (GRCm39) |
T250S |
probably benign |
Het |
Etv1 |
A |
G |
12: 38,915,563 (GRCm39) |
Y410C |
probably damaging |
Het |
Krcc1 |
A |
T |
6: 71,261,612 (GRCm39) |
K215* |
probably null |
Het |
Lrr1 |
A |
T |
12: 69,221,796 (GRCm39) |
T313S |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,866,039 (GRCm39) |
E1234V |
probably damaging |
Het |
Mepe |
G |
A |
5: 104,486,114 (GRCm39) |
R418H |
probably damaging |
Het |
Myrfl |
G |
A |
10: 116,667,447 (GRCm39) |
T331I |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,233,687 (GRCm39) |
W26R |
probably damaging |
Het |
Nsrp1 |
G |
A |
11: 76,936,853 (GRCm39) |
P448S |
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Olfml2a |
A |
G |
2: 38,849,825 (GRCm39) |
N514D |
probably damaging |
Het |
Or2l5 |
T |
C |
16: 19,333,796 (GRCm39) |
T197A |
probably benign |
Het |
Or2y17 |
T |
G |
11: 49,231,417 (GRCm39) |
D19E |
probably damaging |
Het |
Pcdhb1 |
C |
T |
18: 37,398,597 (GRCm39) |
R183C |
probably damaging |
Het |
Phf14 |
T |
G |
6: 11,941,495 (GRCm39) |
C41G |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,361,447 (GRCm39) |
V499A |
possibly damaging |
Het |
Plcb4 |
A |
G |
2: 135,810,314 (GRCm39) |
I638V |
probably benign |
Het |
Ppp4c |
T |
A |
7: 126,385,372 (GRCm39) |
I296F |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,577,610 (GRCm39) |
V2388A |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,420,184 (GRCm39) |
D353G |
probably benign |
Het |
Rnf19b |
T |
G |
4: 128,969,360 (GRCm39) |
|
probably null |
Het |
Ryr3 |
C |
T |
2: 112,788,521 (GRCm39) |
D190N |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema3e |
G |
A |
5: 14,282,098 (GRCm39) |
M411I |
probably damaging |
Het |
Sgsh |
A |
T |
11: 119,237,404 (GRCm39) |
Y403* |
probably null |
Het |
Sh2d7 |
T |
A |
9: 54,448,471 (GRCm39) |
L164Q |
probably benign |
Het |
Smgc |
G |
A |
15: 91,744,798 (GRCm39) |
G287S |
probably damaging |
Het |
Soat1 |
T |
A |
1: 156,261,745 (GRCm39) |
Y421F |
probably damaging |
Het |
Sri |
T |
C |
5: 8,109,416 (GRCm39) |
Y52H |
probably damaging |
Het |
Stat4 |
C |
A |
1: 52,115,836 (GRCm39) |
Q259K |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,628,206 (GRCm39) |
L1023P |
probably damaging |
Het |
Ush1c |
T |
A |
7: 45,858,338 (GRCm39) |
N650I |
probably benign |
Het |
Vmn2r8 |
G |
T |
5: 108,951,085 (GRCm39) |
S120* |
probably null |
Het |
Zbed6 |
G |
A |
1: 133,586,941 (GRCm39) |
T132I |
probably damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp629 |
A |
G |
7: 127,209,401 (GRCm39) |
S803P |
probably benign |
Het |
Zfp629 |
T |
C |
7: 127,211,059 (GRCm39) |
K250R |
probably damaging |
Het |
Zfp758 |
T |
A |
17: 22,594,171 (GRCm39) |
I187N |
probably benign |
Het |
Zfp85 |
T |
A |
13: 67,897,835 (GRCm39) |
K79I |
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 |
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 |
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'- CTTTCCAGTCCTGAGAATCGACGG -3'
(R):5'- TCACGCCAGTATCCAAGGGAAGAG -3'
Sequencing Primer
(F):5'- TCGACGGATGCTGTCAAAC -3'
(R):5'- GCTCACACAAGTAGTACGCAATG -3'
|
Posted On |
2014-01-15 |