Incidental Mutation 'R6398:Slfn4'
ID |
516074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn4
|
Ensembl Gene |
ENSMUSG00000000204 |
Gene Name |
schlafen 4 |
Synonyms |
|
MMRRC Submission |
044381-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6398 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
83066012-83081042 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83078000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 263
(I263V)
|
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: I263V
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000000208 Gene: ENSMUSG00000000204 AA Change: I263V
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: I263V
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000132595 Gene: ENSMUSG00000000204 AA Change: I263V
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
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 |
Ago1 |
T |
A |
4: 126,342,601 (GRCm39) |
Q514L |
probably benign |
Het |
Alpi |
G |
C |
1: 87,027,184 (GRCm39) |
T365S |
probably damaging |
Het |
Cbx4 |
A |
T |
11: 118,971,908 (GRCm39) |
V489E |
probably damaging |
Het |
Ccdc162 |
T |
C |
10: 41,503,145 (GRCm39) |
D999G |
probably damaging |
Het |
Clspn |
A |
G |
4: 126,457,740 (GRCm39) |
E88G |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Ddx1 |
A |
T |
12: 13,295,721 (GRCm39) |
I33N |
probably damaging |
Het |
Diaph3 |
G |
A |
14: 87,103,922 (GRCm39) |
L821F |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,126,851 (GRCm39) |
M221I |
probably benign |
Het |
Gm15130 |
A |
T |
2: 110,965,787 (GRCm39) |
M154K |
unknown |
Het |
Gm3233 |
G |
T |
10: 77,595,249 (GRCm39) |
|
probably benign |
Het |
Heg1 |
A |
C |
16: 33,587,145 (GRCm39) |
I1327L |
probably damaging |
Het |
Ifnar1 |
G |
A |
16: 91,302,303 (GRCm39) |
|
probably null |
Het |
Itpr1 |
C |
T |
6: 108,482,864 (GRCm39) |
L2310F |
probably damaging |
Het |
Or5b98 |
T |
C |
19: 12,931,681 (GRCm39) |
S243P |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,476,487 (GRCm39) |
N541S |
possibly damaging |
Het |
Prelp |
A |
G |
1: 133,842,479 (GRCm39) |
L222P |
probably damaging |
Het |
Prl8a8 |
A |
G |
13: 27,692,412 (GRCm39) |
I193T |
probably damaging |
Het |
Prpf4b |
G |
T |
13: 35,084,354 (GRCm39) |
R914L |
probably damaging |
Het |
Ptbp2 |
G |
C |
3: 119,514,484 (GRCm39) |
Q448E |
probably benign |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Slc9a9 |
A |
T |
9: 94,552,280 (GRCm39) |
M56L |
probably benign |
Het |
Taar2 |
A |
G |
10: 23,817,177 (GRCm39) |
N239S |
probably benign |
Het |
Trrap |
T |
A |
5: 144,727,680 (GRCm39) |
I467N |
possibly damaging |
Het |
Ttc28 |
T |
C |
5: 111,424,142 (GRCm39) |
Y1439H |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,438,666 (GRCm39) |
I3409M |
probably benign |
Het |
Zbbx |
G |
T |
3: 74,985,872 (GRCm39) |
N388K |
probably damaging |
Het |
Znhit2 |
A |
G |
19: 6,112,287 (GRCm39) |
N344S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCAGACCAAGTTCCCATGG -3'
(R):5'- TGTGCACTTCGATGAATTTGC -3'
Sequencing Primer
(F):5'- GTTCCCATGGAAAAACAGTCTG -3'
(R):5'- CACTTCGATGAATTTGCACGTG -3'
|
Posted On |
2018-05-04 |