Incidental Mutation 'IGL02052:Slfn4'
| ID |
185106 |
| 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 # |
IGL02052
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83066012-83081042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83077800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 196
(L196P)
|
| 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: L196P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000208
Gene: ENSMUSG00000000204
AA Change: L196P
| 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: L196P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132595
Gene: ENSMUSG00000000204
AA Change: L196P
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef37 |
C |
T |
18: 61,632,839 (GRCm39) |
V533M |
probably damaging |
Het |
| Bicd2 |
A |
G |
13: 49,532,665 (GRCm39) |
D343G |
possibly damaging |
Het |
| Ccl26 |
C |
T |
5: 135,592,193 (GRCm39) |
S48N |
possibly damaging |
Het |
| Cdkn1b |
A |
T |
6: 134,897,970 (GRCm39) |
R30* |
probably null |
Het |
| Cds1 |
G |
T |
5: 101,962,338 (GRCm39) |
V318L |
probably benign |
Het |
| Ceacam11 |
A |
G |
7: 17,707,548 (GRCm39) |
S111G |
probably benign |
Het |
| Cntn1 |
A |
C |
15: 92,189,584 (GRCm39) |
I636L |
possibly damaging |
Het |
| Cog2 |
G |
A |
8: 125,269,627 (GRCm39) |
|
probably null |
Het |
| Cyp2g1 |
G |
A |
7: 26,513,719 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
T |
C |
5: 120,763,783 (GRCm39) |
V644A |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 30,990,743 (GRCm39) |
Q3192R |
probably damaging |
Het |
| Dyrk2 |
T |
G |
10: 118,696,448 (GRCm39) |
H270P |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,590,256 (GRCm39) |
T3A |
probably benign |
Het |
| Fam120a |
G |
A |
13: 49,087,421 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
A |
G |
10: 53,573,216 (GRCm39) |
|
probably benign |
Het |
| Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
| Gaa |
A |
G |
11: 119,175,021 (GRCm39) |
Y874C |
possibly damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,152,567 (GRCm39) |
I169N |
probably damaging |
Het |
| Gm13734 |
T |
C |
2: 86,966,665 (GRCm39) |
|
probably null |
Het |
| Gnb1 |
T |
C |
4: 155,618,148 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
G |
T |
1: 53,965,670 (GRCm39) |
F385L |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,079,368 (GRCm39) |
V277M |
probably damaging |
Het |
| Mogat2 |
A |
T |
7: 98,887,771 (GRCm39) |
M1K |
probably null |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,042 (GRCm39) |
W259R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,303,553 (GRCm39) |
L410S |
probably damaging |
Het |
| Ntn4 |
T |
G |
10: 93,543,211 (GRCm39) |
N312K |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,637,983 (GRCm39) |
V365A |
possibly damaging |
Het |
| Pde4c |
A |
G |
8: 71,201,062 (GRCm39) |
N420S |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,064,541 (GRCm39) |
R1911H |
probably damaging |
Het |
| Pramel21 |
A |
C |
4: 143,341,643 (GRCm39) |
D24A |
probably benign |
Het |
| Rnf19b |
A |
G |
4: 128,965,613 (GRCm39) |
H237R |
probably damaging |
Het |
| Steap2 |
G |
T |
5: 5,723,586 (GRCm39) |
F431L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,072,493 (GRCm39) |
E2680G |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,884,394 (GRCm39) |
I96N |
probably damaging |
Het |
| Trim34a |
T |
G |
7: 103,897,038 (GRCm39) |
V34G |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,133,573 (GRCm39) |
|
probably benign |
Het |
| Usp29 |
A |
C |
7: 6,965,525 (GRCm39) |
H456P |
probably benign |
Het |
| Wdfy1 |
A |
G |
1: 79,692,661 (GRCm39) |
S219P |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,600 (GRCm39) |
S117R |
possibly damaging |
Het |
|
| Other mutations in Slfn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02455:Slfn4
|
APN |
11 |
83,077,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02600:Slfn4
|
APN |
11 |
83,077,832 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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 |
2014-05-07 |
Incidental Mutation