Incidental Mutation 'R9457:Slfn8'
| ID |
714666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R9457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83002158-83020810 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83017706 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 4
(H4N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038141
AA Change: H4N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: H4N
| 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: H4N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: H4N
| 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: H4N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: H4N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130822
AA Change: H4N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: H4N
| 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
AA Change: H4N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110002H16Rik |
A |
G |
18: 12,179,246 (GRCm38) |
H181R |
probably benign |
Het |
| 4930404N11Rik |
C |
A |
10: 81,365,777 (GRCm38) |
V4L |
probably benign |
Het |
| 4930430A15Rik |
A |
T |
2: 111,170,286 (GRCm38) |
M196K |
unknown |
Het |
| 4932415D10Rik |
A |
G |
10: 82,286,739 (GRCm38) |
V3479A |
probably benign |
Het |
| A930009A15Rik |
T |
C |
10: 115,578,331 (GRCm38) |
L54P |
unknown |
Het |
| Ablim3 |
A |
G |
18: 61,845,849 (GRCm38) |
S204P |
probably benign |
Het |
| Acadl |
A |
G |
1: 66,853,241 (GRCm38) |
V141A |
probably benign |
Het |
| Ace3 |
A |
G |
11: 105,994,861 (GRCm38) |
D31G |
probably benign |
Het |
| Adam11 |
T |
G |
11: 102,769,898 (GRCm38) |
V85G |
probably benign |
Het |
| Adarb1 |
A |
T |
10: 77,322,148 (GRCm38) |
M155K |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 77,384,786 (GRCm38) |
T376M |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,821,967 (GRCm38) |
T668K |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,841,631 (GRCm38) |
E717G |
probably damaging |
Het |
| Cdh17 |
T |
A |
4: 11,771,329 (GRCm38) |
I37N |
probably damaging |
Het |
| Cfap99 |
T |
G |
5: 34,301,397 (GRCm38) |
F45L |
probably benign |
Het |
| Chsy1 |
C |
A |
7: 66,172,400 (GRCm38) |
H794Q |
probably benign |
Het |
| Clec4a3 |
G |
A |
6: 122,954,086 (GRCm38) |
V45I |
probably benign |
Het |
| Clic3 |
G |
A |
2: 25,457,718 (GRCm38) |
V32I |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,502,730 (GRCm38) |
D740E |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,386,844 (GRCm38) |
V1062I |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,392,813 (GRCm38) |
|
probably null |
Het |
| Cyp2j11 |
C |
T |
4: 96,307,359 (GRCm38) |
V367I |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,682,758 (GRCm38) |
A821T |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,950,793 (GRCm38) |
E107K |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,959,694 (GRCm38) |
V484A |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,161,127 (GRCm38) |
T354A |
probably benign |
Het |
| Fkbp6 |
T |
C |
5: 135,349,632 (GRCm38) |
D54G |
probably benign |
Het |
| Gm4787 |
T |
A |
12: 81,379,246 (GRCm38) |
E46V |
probably damaging |
Het |
| Gm47995 |
A |
G |
1: 151,198,475 (GRCm38) |
T10A |
possibly damaging |
Het |
| Gm498 |
T |
C |
7: 143,883,976 (GRCm38) |
V137A |
possibly damaging |
Het |
| Gnb1l |
T |
A |
16: 18,540,995 (GRCm38) |
I50N |
probably damaging |
Het |
| Gphb5 |
A |
T |
12: 75,415,749 (GRCm38) |
V22D |
probably damaging |
Het |
| Gstt4 |
C |
T |
10: 75,815,125 (GRCm38) |
C221Y |
probably benign |
Het |
| Hmces |
T |
C |
6: 87,933,274 (GRCm38) |
V222A |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,373,782 (GRCm38) |
D62E |
probably benign |
Het |
| Kcnmb2 |
T |
A |
3: 32,181,869 (GRCm38) |
V89E |
probably benign |
Het |
| Kif23 |
T |
A |
9: 61,944,225 (GRCm38) |
N63I |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,139,854 (GRCm38) |
M578V |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,789,153 (GRCm38) |
C1335S |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,687,745 (GRCm38) |
E2622G |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,384,674 (GRCm38) |
H47L |
probably benign |
Het |
| Micalcl |
A |
G |
7: 112,411,458 (GRCm38) |
K618R |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,665,760 (GRCm38) |
I92T |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,676,184 (GRCm38) |
I223V |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,345,086 (GRCm38) |
I306N |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,095,209 (GRCm38) |
S35T |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,813,984 (GRCm38) |
V700E |
probably damaging |
Het |
| Oit3 |
T |
A |
10: 59,441,683 (GRCm38) |
M1L |
unknown |
Het |
| Olfr1048 |
A |
T |
2: 86,236,472 (GRCm38) |
I114K |
probably damaging |
Het |
| Olfr1231 |
A |
T |
2: 89,302,731 (GRCm38) |
I287N |
probably damaging |
Het |
| Olfr606 |
T |
A |
7: 103,451,411 (GRCm38) |
F25I |
probably benign |
Het |
| Peg3 |
T |
G |
7: 6,707,999 (GRCm38) |
D1408A |
probably damaging |
Het |
| Plaa |
A |
C |
4: 94,586,883 (GRCm38) |
S201R |
possibly damaging |
Het |
| Psmd5 |
A |
G |
2: 34,854,326 (GRCm38) |
S395P |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,334,554 (GRCm38) |
I1701V |
probably damaging |
Het |
| Rnf32 |
G |
A |
5: 29,206,186 (GRCm38) |
A157T |
probably damaging |
Het |
| Rrad |
T |
A |
8: 104,629,727 (GRCm38) |
|
probably null |
Het |
| Samm50 |
T |
A |
15: 84,207,841 (GRCm38) |
L339Q |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,104,958 (GRCm38) |
E212G |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 76,067,299 (GRCm38) |
D146G |
probably damaging |
Het |
| Slc19a1 |
G |
A |
10: 77,049,771 (GRCm38) |
D502N |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,214,573 (GRCm38) |
S839P |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,806,260 (GRCm38) |
D764G |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,681,765 (GRCm38) |
A590V |
probably damaging |
Het |
| Smad9 |
T |
A |
3: 54,789,335 (GRCm38) |
F274I |
possibly damaging |
Het |
| Snx4 |
A |
G |
16: 33,286,010 (GRCm38) |
E271G |
probably benign |
Het |
| Thap4 |
G |
A |
1: 93,750,306 (GRCm38) |
R253* |
probably null |
Het |
| Tmem65 |
T |
A |
15: 58,790,179 (GRCm38) |
I144F |
|
Het |
| Tnrc6a |
G |
A |
7: 123,179,735 (GRCm38) |
R1223Q |
probably benign |
Het |
| Traf7 |
CA |
CAA |
17: 24,527,763 (GRCm38) |
|
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,911,392 (GRCm38) |
Y1424C |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,826,668 (GRCm38) |
Y2457N |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,024,523 (GRCm38) |
S251P |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,456,012 (GRCm38) |
E273V |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 33,962,182 (GRCm38) |
D466G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,515,632 (GRCm38) |
V2739A |
probably benign |
Het |
| Zc3h4 |
C |
T |
7: 16,434,750 (GRCm38) |
S1003F |
unknown |
Het |
| Zyg11a |
A |
T |
4: 108,217,905 (GRCm38) |
H6Q |
probably damaging |
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 |
|
R5107:Slfn8
|
UTSW |
11 |
83,017,150 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CACAGGATGCTCACTCTTGTTAG -3'
(R):5'- ATTGCCCCTTCAAAACAGTTTC -3'
Sequencing Primer
(F):5'- ACTCTTGTTAGTCATTTGCATAGC -3'
(R):5'- TGCCCCTTCAAAACAGTTTCTAAAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation