Incidental Mutation 'IGL02455:Slfn4'
ID |
293786 |
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 # |
IGL02455
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
83066012-83081042 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83077584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 124
(N124I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132595
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000208]
[ENSMUST00000019130]
[ENSMUST00000167596]
[ENSMUST00000214041]
[ENSMUST00000215472]
|
AlphaFold |
Q3UV66 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000208
AA Change: N124I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000000208 Gene: ENSMUSG00000000204 AA Change: N124I
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 |
probably damaging
Transcript: ENSMUST00000167596
AA Change: N124I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132595 Gene: ENSMUSG00000000204 AA Change: N124I
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
G |
17: 36,271,021 (GRCm39) |
V479A |
probably damaging |
Het |
Adam18 |
T |
C |
8: 25,141,864 (GRCm39) |
D235G |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 164,984,175 (GRCm39) |
N359S |
possibly damaging |
Het |
Cebpz |
G |
T |
17: 79,242,465 (GRCm39) |
N396K |
probably benign |
Het |
Celsr3 |
T |
A |
9: 108,720,092 (GRCm39) |
W2493R |
probably benign |
Het |
Clca3a2 |
C |
T |
3: 144,787,172 (GRCm39) |
V500M |
probably benign |
Het |
Clec4a4 |
A |
C |
6: 122,990,739 (GRCm39) |
N160H |
possibly damaging |
Het |
Crb2 |
T |
C |
2: 37,684,576 (GRCm39) |
S1139P |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 30,891,308 (GRCm39) |
I771T |
probably damaging |
Het |
Etfbkmt |
C |
T |
6: 149,048,724 (GRCm39) |
A121V |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,005,280 (GRCm39) |
L1893Q |
possibly damaging |
Het |
Fbxw13 |
A |
T |
9: 109,012,255 (GRCm39) |
S188T |
probably benign |
Het |
Fign |
T |
C |
2: 63,810,841 (GRCm39) |
D143G |
probably benign |
Het |
Foxj3 |
C |
A |
4: 119,477,434 (GRCm39) |
H381N |
unknown |
Het |
Gpr158 |
A |
T |
2: 21,373,511 (GRCm39) |
T149S |
probably benign |
Het |
Ift74 |
C |
T |
4: 94,524,068 (GRCm39) |
Q195* |
probably null |
Het |
Kif2c |
C |
A |
4: 117,029,551 (GRCm39) |
M143I |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,278,303 (GRCm39) |
|
probably null |
Het |
Krt84 |
C |
T |
15: 101,434,170 (GRCm39) |
R599H |
unknown |
Het |
Ly6g6f |
C |
T |
17: 35,301,866 (GRCm39) |
R196H |
possibly damaging |
Het |
Map4 |
C |
A |
9: 109,828,901 (GRCm39) |
N95K |
probably benign |
Het |
Mrgprx3-ps |
T |
A |
7: 46,959,263 (GRCm39) |
|
noncoding transcript |
Het |
Mroh9 |
T |
C |
1: 162,903,149 (GRCm39) |
M85V |
probably benign |
Het |
Npffr2 |
T |
C |
5: 89,715,994 (GRCm39) |
I107T |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,617,313 (GRCm39) |
V737A |
probably damaging |
Het |
Oprm1 |
A |
G |
10: 6,780,219 (GRCm39) |
T294A |
probably damaging |
Het |
Or10d5j |
T |
C |
9: 39,868,198 (GRCm39) |
E11G |
probably damaging |
Het |
Or5w17 |
A |
T |
2: 87,583,927 (GRCm39) |
S137T |
possibly damaging |
Het |
Or7g32 |
C |
T |
9: 19,408,559 (GRCm39) |
Q172* |
probably null |
Het |
Parvg |
A |
G |
15: 84,214,283 (GRCm39) |
R156G |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,590,189 (GRCm39) |
S830P |
unknown |
Het |
Pde11a |
T |
C |
2: 75,988,737 (GRCm39) |
D468G |
possibly damaging |
Het |
Peak1 |
A |
T |
9: 56,134,757 (GRCm39) |
S195T |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,434,425 (GRCm39) |
Y2338H |
probably damaging |
Het |
Ppp1r1b |
A |
T |
11: 98,241,395 (GRCm39) |
I28F |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,400,084 (GRCm39) |
Y2326C |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,006,302 (GRCm39) |
L223I |
probably damaging |
Het |
Runx3 |
T |
A |
4: 134,902,841 (GRCm39) |
Y310N |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,615,398 (GRCm39) |
D76N |
possibly damaging |
Het |
Spata13 |
G |
A |
14: 60,944,163 (GRCm39) |
V519I |
probably benign |
Het |
Ssh3 |
C |
T |
19: 4,314,460 (GRCm39) |
E365K |
probably damaging |
Het |
Strc |
A |
G |
2: 121,206,272 (GRCm39) |
|
probably benign |
Het |
Tdp2 |
T |
A |
13: 25,025,245 (GRCm39) |
I338N |
probably damaging |
Het |
Vmn1r13 |
A |
T |
6: 57,187,457 (GRCm39) |
R205S |
probably damaging |
Het |
Wdr19 |
G |
T |
5: 65,382,102 (GRCm39) |
A441S |
probably benign |
Het |
Ylpm1 |
A |
G |
12: 85,077,037 (GRCm39) |
D796G |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,821,038 (GRCm39) |
S712P |
probably damaging |
Het |
Zcchc14 |
A |
G |
8: 122,333,009 (GRCm39) |
|
probably benign |
Het |
Zfp608 |
T |
G |
18: 55,032,405 (GRCm39) |
S512R |
probably damaging |
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 |
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 |
2015-04-16 |