Incidental Mutation 'R5107:Slfn8'
| ID |
393616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| MMRRC Submission |
042695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5107 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83002158-83020810 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 83017150 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 189
(I189S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038141
AA Change: I189S
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: I189S
| 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: I189S
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: I189S
| 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 damaging
Transcript: ENSMUST00000108152
AA Change: I189S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: I189S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130822
AA Change: I189S
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: I189S
| 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: I10S
|
| SMART Domains |
Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: I10S
| 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 damaging
Transcript: ENSMUST00000215239
AA Change: I189S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
C |
13: 60,853,658 (GRCm38) |
N85S |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,401,977 (GRCm38) |
Y56C |
possibly damaging |
Het |
| Agbl5 |
C |
A |
5: 30,892,478 (GRCm38) |
P257Q |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,228,603 (GRCm38) |
M130L |
probably damaging |
Het |
| Atp6v1f |
T |
A |
6: 29,468,199 (GRCm38) |
|
probably null |
Het |
| Ccdc78 |
G |
A |
17: 25,787,480 (GRCm38) |
V133M |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,308,539 (GRCm38) |
K145E |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 77,077,223 (GRCm38) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Het |
| Igkv4-54 |
T |
C |
6: 69,631,930 (GRCm38) |
I24V |
possibly damaging |
Het |
| Ikzf3 |
A |
G |
11: 98,490,476 (GRCm38) |
Y93H |
probably damaging |
Het |
| Isl2 |
T |
C |
9: 55,542,286 (GRCm38) |
V82A |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 181,108,547 (GRCm38) |
|
probably benign |
Het |
| Krt4 |
A |
T |
15: 101,922,791 (GRCm38) |
M225K |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,689,608 (GRCm38) |
V484A |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,359,779 (GRCm38) |
V1592E |
possibly damaging |
Het |
| Lrrc7 |
G |
A |
3: 158,161,896 (GRCm38) |
P736L |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,965,557 (GRCm38) |
F376I |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,855,531 (GRCm38) |
H1117Q |
unknown |
Het |
| Myh7 |
T |
A |
14: 54,986,424 (GRCm38) |
|
probably benign |
Het |
| Myod1 |
G |
T |
7: 46,377,794 (GRCm38) |
A228S |
probably benign |
Het |
| Ntrk1 |
T |
C |
3: 87,794,973 (GRCm38) |
T58A |
probably benign |
Het |
| Olfr109 |
A |
G |
17: 37,466,253 (GRCm38) |
T16A |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,106,454 (GRCm38) |
V559E |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 8,944,970 (GRCm38) |
N191S |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,831,485 (GRCm38) |
S161P |
probably benign |
Het |
| Pias1 |
C |
A |
9: 62,882,228 (GRCm38) |
A566S |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,635,625 (GRCm38) |
|
probably benign |
Het |
| Pmp22 |
A |
G |
11: 63,158,411 (GRCm38) |
E160G |
probably damaging |
Het |
| Polb |
T |
C |
8: 22,645,046 (GRCm38) |
|
probably null |
Het |
| Prob1 |
T |
C |
18: 35,652,936 (GRCm38) |
N755S |
possibly damaging |
Het |
| Rhou |
A |
T |
8: 123,661,173 (GRCm38) |
K215* |
probably null |
Het |
| Scaper |
A |
G |
9: 55,580,332 (GRCm38) |
S749P |
probably damaging |
Het |
| Selenop |
A |
G |
15: 3,275,593 (GRCm38) |
E77G |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,577,604 (GRCm38) |
S490* |
probably null |
Het |
| Slc26a2 |
A |
G |
18: 61,198,560 (GRCm38) |
Y600H |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 31,163,795 (GRCm38) |
|
probably null |
Het |
| Tbc1d13 |
G |
A |
2: 30,146,721 (GRCm38) |
E205K |
probably damaging |
Het |
| Tex47 |
C |
T |
5: 7,304,842 (GRCm38) |
R8W |
probably benign |
Het |
| Tmem198b |
T |
C |
10: 128,802,287 (GRCm38) |
T136A |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,172,638 (GRCm38) |
Q414R |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,550 (GRCm38) |
T30K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,863,561 (GRCm38) |
V321A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,778,152 (GRCm38) |
I16063T |
probably damaging |
Het |
| Ubox5 |
A |
G |
2: 130,599,768 (GRCm38) |
L333P |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,309,643 (GRCm38) |
Y78* |
probably null |
Het |
| Wnk4 |
A |
G |
11: 101,275,538 (GRCm38) |
|
probably benign |
Het |
| Xirp2 |
G |
T |
2: 67,511,861 (GRCm38) |
G1482V |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,509,710 (GRCm38) |
D765G |
probably damaging |
Het |
| Znhit1 |
A |
G |
5: 136,986,828 (GRCm38) |
V2A |
probably benign |
Het |
|
| Other mutations in Slfn8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Slfn8
|
APN |
11 |
83,013,484 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL01418:Slfn8
|
APN |
11 |
83,004,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01620:Slfn8
|
APN |
11 |
83,004,233 (GRCm38) |
nonsense |
probably null |
|
|
IGL01875:Slfn8
|
APN |
11 |
83,004,079 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL01896:Slfn8
|
APN |
11 |
83,003,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01929:Slfn8
|
APN |
11 |
83,003,405 (GRCm38) |
nonsense |
probably null |
|
|
IGL02111:Slfn8
|
APN |
11 |
83,004,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02136:Slfn8
|
APN |
11 |
83,003,465 (GRCm38) |
nonsense |
probably null |
|
|
IGL02165:Slfn8
|
APN |
11 |
83,017,196 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02645:Slfn8
|
APN |
11 |
83,003,554 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02682:Slfn8
|
APN |
11 |
83,003,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02689:Slfn8
|
APN |
11 |
83,017,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02948:Slfn8
|
APN |
11 |
83,003,252 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03037:Slfn8
|
APN |
11 |
83,003,252 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03185:Slfn8
|
APN |
11 |
83,017,507 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03243:Slfn8
|
APN |
11 |
83,003,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03286:Slfn8
|
APN |
11 |
83,013,468 (GRCm38) |
missense |
probably damaging |
0.99 |
|
seven_dwarfs
|
UTSW |
11 |
83,003,334 (GRCm38) |
missense |
probably benign |
0.09 |
|
vanwinkle
|
UTSW |
11 |
83,017,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0295:Slfn8
|
UTSW |
11 |
83,003,343 (GRCm38) |
nonsense |
probably null |
|
|
R0368:Slfn8
|
UTSW |
11 |
83,017,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0382:Slfn8
|
UTSW |
11 |
83,004,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0655:Slfn8
|
UTSW |
11 |
83,003,821 (GRCm38) |
missense |
probably benign |
0.35 |
|
R0894:Slfn8
|
UTSW |
11 |
83,003,581 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1006:Slfn8
|
UTSW |
11 |
83,003,511 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R1181:Slfn8
|
UTSW |
11 |
83,016,745 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1187:Slfn8
|
UTSW |
11 |
83,003,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1501:Slfn8
|
UTSW |
11 |
83,003,180 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1646:Slfn8
|
UTSW |
11 |
83,016,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1909:Slfn8
|
UTSW |
11 |
83,003,621 (GRCm38) |
nonsense |
probably null |
|
|
R2005:Slfn8
|
UTSW |
11 |
83,004,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2363:Slfn8
|
UTSW |
11 |
83,004,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3780:Slfn8
|
UTSW |
11 |
83,017,454 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3890:Slfn8
|
UTSW |
11 |
83,004,444 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R3917:Slfn8
|
UTSW |
11 |
83,016,993 (GRCm38) |
nonsense |
probably null |
|
|
R4559:Slfn8
|
UTSW |
11 |
83,004,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Slfn8
|
UTSW |
11 |
83,017,506 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4767:Slfn8
|
UTSW |
11 |
83,003,197 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4773:Slfn8
|
UTSW |
11 |
83,017,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4859:Slfn8
|
UTSW |
11 |
83,017,714 (GRCm38) |
start codon destroyed |
probably null |
0.99 |
|
R4916:Slfn8
|
UTSW |
11 |
83,016,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4939:Slfn8
|
UTSW |
11 |
83,003,285 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5130:Slfn8
|
UTSW |
11 |
83,003,821 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5165:Slfn8
|
UTSW |
11 |
83,017,127 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5238:Slfn8
|
UTSW |
11 |
83,013,388 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5282:Slfn8
|
UTSW |
11 |
83,017,724 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5311:Slfn8
|
UTSW |
11 |
83,004,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5499:Slfn8
|
UTSW |
11 |
83,004,216 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5617:Slfn8
|
UTSW |
11 |
83,004,721 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5782:Slfn8
|
UTSW |
11 |
83,017,041 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5823:Slfn8
|
UTSW |
11 |
83,016,736 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5886:Slfn8
|
UTSW |
11 |
83,003,334 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5933:Slfn8
|
UTSW |
11 |
83,003,335 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6151:Slfn8
|
UTSW |
11 |
83,017,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6163:Slfn8
|
UTSW |
11 |
83,003,864 (GRCm38) |
makesense |
probably null |
|
|
R6191:Slfn8
|
UTSW |
11 |
83,016,800 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6419:Slfn8
|
UTSW |
11 |
83,004,055 (GRCm38) |
splice site |
probably null |
|
|
R6925:Slfn8
|
UTSW |
11 |
83,013,417 (GRCm38) |
nonsense |
probably null |
|
|
R7065:Slfn8
|
UTSW |
11 |
83,016,968 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7380:Slfn8
|
UTSW |
11 |
83,003,740 (GRCm38) |
missense |
not run |
|
|
R7414:Slfn8
|
UTSW |
11 |
83,016,792 (GRCm38) |
nonsense |
probably null |
|
|
R7819:Slfn8
|
UTSW |
11 |
83,004,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8425:Slfn8
|
UTSW |
11 |
83,004,615 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8517:Slfn8
|
UTSW |
11 |
83,004,142 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8804:Slfn8
|
UTSW |
11 |
83,016,813 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8814:Slfn8
|
UTSW |
11 |
83,016,679 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9069:Slfn8
|
UTSW |
11 |
83,017,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9233:Slfn8
|
UTSW |
11 |
83,003,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9457:Slfn8
|
UTSW |
11 |
83,017,706 (GRCm38) |
missense |
probably benign |
|
|
R9678:Slfn8
|
UTSW |
11 |
83,016,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9708:Slfn8
|
UTSW |
11 |
83,003,441 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9764:Slfn8
|
UTSW |
11 |
83,017,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0021:Slfn8
|
UTSW |
11 |
83,016,928 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
Z1177:Slfn8
|
UTSW |
11 |
83,003,533 (GRCm38) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGTTGTCTTTTGGGCATC -3'
(R):5'- GGGCTCTTCTCTGTACTGTAGATC -3'
Sequencing Primer
(F):5'- TCTTATCATCCACTCCAATGAAAAG -3'
(R):5'- CTATAACTTCTAAGGTTGCCATGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation