Incidental Mutation 'IGL02600:Slfn4'
ID |
300043 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slfn4
|
Ensembl Gene |
ENSMUSG00000000204 |
Gene Name |
schlafen 4 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02600
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
83066012-83081042 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83077832 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 207
(S207T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132595
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000208]
[ENSMUST00000019130]
[ENSMUST00000167596]
[ENSMUST00000214041]
[ENSMUST00000215472]
|
AlphaFold |
Q3UV66 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000208
AA Change: S207T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000000208 Gene: ENSMUSG00000000204 AA Change: S207T
Domain | Start | End | E-Value | Type |
Pfam:AlbA_2
|
243 |
382 |
1.3e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000019130
|
SMART Domains |
Protein: ENSMUSP00000019130 Gene: ENSMUSG00000018986
Domain | Start | End | E-Value | Type |
Pfam:AlbA_2
|
165 |
303 |
5.5e-11 |
PFAM |
low complexity region
|
394 |
412 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167596
AA Change: S207T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000132595 Gene: ENSMUSG00000000204 AA Change: S207T
Domain | Start | End | E-Value | Type |
Pfam:AAA_4
|
243 |
385 |
1e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214041
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215472
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to the Schlafen family. All members of this family contain a Schlafen box domain that lies near an AAA domain. This protein belongs to the group 2 subset of Schlafen proteins, which are defined by a molecular weight between 58 kDa and 68 kDa and by the presence of a SWADL domain that contains the sequence Ser-Trp-Ala-Asp-Leu. In malignant melanoma cells, gene expression is up-regulated in response to interferon alpha. In bone marrow-derived macrophages, expression of this gene is induced during activation by Toll-like receptor agonists and repressed during macrophage colony-stimulating factor-mediated differentiation. Myelopoiesis is disrupted by constitutive overexpression in myeloid-lineage cells. A pseudogene of this gene is found on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
G |
11: 110,200,264 (GRCm39) |
I483L |
probably benign |
Het |
Bmpr1b |
A |
C |
3: 141,546,488 (GRCm39) |
M466R |
probably damaging |
Het |
Casp8ap2 |
G |
A |
4: 32,630,246 (GRCm39) |
D42N |
probably null |
Het |
Crebbp |
T |
A |
16: 3,972,882 (GRCm39) |
T271S |
probably benign |
Het |
Ddx27 |
A |
G |
2: 166,868,124 (GRCm39) |
H319R |
probably damaging |
Het |
Dync2i2 |
T |
A |
2: 29,923,314 (GRCm39) |
D263V |
possibly damaging |
Het |
Gckr |
A |
G |
5: 31,462,374 (GRCm39) |
M236V |
probably benign |
Het |
Gm28044 |
A |
C |
13: 67,469,025 (GRCm39) |
|
probably benign |
Het |
Gmnc |
T |
A |
16: 26,781,641 (GRCm39) |
|
probably benign |
Het |
Gpx3 |
C |
A |
11: 54,800,433 (GRCm39) |
D210E |
possibly damaging |
Het |
Lpin2 |
A |
G |
17: 71,545,693 (GRCm39) |
N513S |
probably damaging |
Het |
Myh3 |
C |
T |
11: 66,974,227 (GRCm39) |
R170C |
probably damaging |
Het |
Nrxn3 |
G |
T |
12: 89,478,682 (GRCm39) |
|
probably benign |
Het |
Nynrin |
A |
G |
14: 56,101,449 (GRCm39) |
I373V |
probably benign |
Het |
Or13a21 |
T |
C |
7: 139,998,862 (GRCm39) |
T275A |
probably benign |
Het |
Or6b6 |
A |
G |
7: 106,570,756 (GRCm39) |
I265T |
possibly damaging |
Het |
Padi3 |
A |
G |
4: 140,525,467 (GRCm39) |
V172A |
probably benign |
Het |
Pdzd2 |
C |
A |
15: 12,411,105 (GRCm39) |
G554W |
probably damaging |
Het |
Plekhg6 |
G |
A |
6: 125,347,563 (GRCm39) |
R464* |
probably null |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Serinc1 |
A |
G |
10: 57,399,127 (GRCm39) |
S259P |
probably benign |
Het |
Stab2 |
C |
T |
10: 86,790,123 (GRCm39) |
G548R |
probably damaging |
Het |
Tmem229b-ps |
T |
C |
10: 53,351,052 (GRCm39) |
|
noncoding transcript |
Het |
Ttn |
G |
A |
2: 76,570,509 (GRCm39) |
P26795S |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,817,829 (GRCm39) |
M661V |
probably benign |
Het |
Ybey |
G |
A |
10: 76,300,165 (GRCm39) |
|
probably benign |
Het |
Zbtb17 |
A |
G |
4: 141,194,196 (GRCm39) |
D715G |
possibly damaging |
Het |
Zgrf1 |
T |
C |
3: 127,394,623 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slfn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02052:Slfn4
|
APN |
11 |
83,077,800 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02455:Slfn4
|
APN |
11 |
83,077,584 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03294:Slfn4
|
APN |
11 |
83,077,400 (GRCm39) |
missense |
probably benign |
0.00 |
R0277:Slfn4
|
UTSW |
11 |
83,077,777 (GRCm39) |
missense |
probably damaging |
0.96 |
R0323:Slfn4
|
UTSW |
11 |
83,077,777 (GRCm39) |
missense |
probably damaging |
0.96 |
R0477:Slfn4
|
UTSW |
11 |
83,079,507 (GRCm39) |
missense |
probably benign |
0.06 |
R1370:Slfn4
|
UTSW |
11 |
83,079,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R1449:Slfn4
|
UTSW |
11 |
83,079,819 (GRCm39) |
missense |
probably benign |
0.00 |
R1757:Slfn4
|
UTSW |
11 |
83,076,211 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2392:Slfn4
|
UTSW |
11 |
83,076,248 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3738:Slfn4
|
UTSW |
11 |
83,076,137 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
R4025:Slfn4
|
UTSW |
11 |
83,078,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Slfn4
|
UTSW |
11 |
83,080,108 (GRCm39) |
unclassified |
probably benign |
|
R4733:Slfn4
|
UTSW |
11 |
83,080,108 (GRCm39) |
unclassified |
probably benign |
|
R4766:Slfn4
|
UTSW |
11 |
83,077,647 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4876:Slfn4
|
UTSW |
11 |
83,077,844 (GRCm39) |
missense |
probably benign |
0.26 |
R4985:Slfn4
|
UTSW |
11 |
83,078,033 (GRCm39) |
missense |
probably damaging |
0.98 |
R5033:Slfn4
|
UTSW |
11 |
83,077,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R5226:Slfn4
|
UTSW |
11 |
83,078,375 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5281:Slfn4
|
UTSW |
11 |
83,078,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R5337:Slfn4
|
UTSW |
11 |
83,080,055 (GRCm39) |
missense |
probably benign |
0.35 |
R6207:Slfn4
|
UTSW |
11 |
83,079,951 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6237:Slfn4
|
UTSW |
11 |
83,079,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R6398:Slfn4
|
UTSW |
11 |
83,078,000 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7721:Slfn4
|
UTSW |
11 |
83,078,389 (GRCm39) |
splice site |
probably null |
|
R7832:Slfn4
|
UTSW |
11 |
83,077,419 (GRCm39) |
missense |
probably damaging |
0.96 |
R7975:Slfn4
|
UTSW |
11 |
83,077,982 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8092:Slfn4
|
UTSW |
11 |
83,079,831 (GRCm39) |
missense |
probably benign |
|
R8233:Slfn4
|
UTSW |
11 |
83,078,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R8279:Slfn4
|
UTSW |
11 |
83,077,482 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8692:Slfn4
|
UTSW |
11 |
83,079,709 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8735:Slfn4
|
UTSW |
11 |
83,077,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R9035:Slfn4
|
UTSW |
11 |
83,077,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |