Incidental Mutation 'R0477:Slfn4'
ID |
41866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn4
|
Ensembl Gene |
ENSMUSG00000000204 |
Gene Name |
schlafen 4 |
Synonyms |
|
MMRRC Submission |
038677-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0477 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
11 |
Chromosomal Location |
83066012-83081042 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83079507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 6
(I6T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150793
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000208]
[ENSMUST00000019130]
[ENSMUST00000167596]
[ENSMUST00000214041]
[ENSMUST00000215472]
|
AlphaFold |
Q3UV66 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000208
AA Change: I399T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000000208 Gene: ENSMUSG00000000204 AA Change: I399T
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 benign
Transcript: ENSMUST00000167596
AA Change: I399T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000132595 Gene: ENSMUSG00000000204 AA Change: I399T
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
AA Change: I6T
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
Validation Efficiency |
98% (57/58) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
A |
T |
11: 117,693,787 (GRCm39) |
I85F |
probably benign |
Het |
Abca8a |
T |
A |
11: 109,956,051 (GRCm39) |
I778L |
probably benign |
Het |
Abcc5 |
T |
C |
16: 20,187,319 (GRCm39) |
N889S |
possibly damaging |
Het |
Abcc5 |
T |
C |
16: 20,217,635 (GRCm39) |
N359D |
probably damaging |
Het |
Adam23 |
A |
G |
1: 63,596,559 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,832,366 (GRCm39) |
D913E |
probably benign |
Het |
Ap1b1 |
G |
T |
11: 4,981,787 (GRCm39) |
C538F |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,890,766 (GRCm39) |
S882T |
probably benign |
Het |
C9 |
A |
T |
15: 6,487,664 (GRCm39) |
E43D |
probably benign |
Het |
Cacna2d1 |
T |
C |
5: 16,399,796 (GRCm39) |
|
probably null |
Het |
Ces2a |
A |
G |
8: 105,464,169 (GRCm39) |
E267G |
probably damaging |
Het |
Cfap61 |
A |
G |
2: 145,781,836 (GRCm39) |
D23G |
probably damaging |
Het |
Col9a3 |
T |
G |
2: 180,251,263 (GRCm39) |
|
probably benign |
Het |
Cstl1 |
T |
C |
2: 148,592,908 (GRCm39) |
V21A |
probably benign |
Het |
Cth |
A |
T |
3: 157,610,812 (GRCm39) |
L340Q |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,974,054 (GRCm39) |
M2813K |
probably damaging |
Het |
Fam107a |
A |
T |
14: 8,301,168 (GRCm38) |
Y21N |
probably benign |
Het |
Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,894,806 (GRCm39) |
V21A |
probably benign |
Het |
Foxc2 |
A |
T |
8: 121,844,774 (GRCm39) |
Y474F |
probably damaging |
Het |
Hnf4g |
G |
T |
3: 3,716,851 (GRCm39) |
|
probably benign |
Het |
Hnrnpll |
T |
C |
17: 80,369,261 (GRCm39) |
D54G |
unknown |
Het |
Hydin |
A |
G |
8: 111,145,130 (GRCm39) |
Y827C |
probably damaging |
Het |
Il23r |
A |
G |
6: 67,429,361 (GRCm39) |
V327A |
probably benign |
Het |
Itih4 |
T |
A |
14: 30,611,631 (GRCm39) |
V118D |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
A |
G |
12: 31,376,268 (GRCm39) |
D1546G |
possibly damaging |
Het |
Large1 |
A |
T |
8: 73,544,710 (GRCm39) |
D689E |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,132,582 (GRCm39) |
S895P |
probably damaging |
Het |
Mdn1 |
A |
C |
4: 32,750,928 (GRCm39) |
E4487A |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,411,740 (GRCm39) |
|
probably null |
Het |
Nlrp4f |
C |
A |
13: 65,338,720 (GRCm39) |
R639L |
probably benign |
Het |
Or4f52 |
A |
G |
2: 111,062,009 (GRCm39) |
F43S |
probably benign |
Het |
Or8h10 |
T |
A |
2: 86,808,567 (GRCm39) |
D191V |
probably damaging |
Het |
Pcdh9 |
T |
C |
14: 94,125,114 (GRCm39) |
N229S |
probably damaging |
Het |
Pcnx2 |
A |
G |
8: 126,488,306 (GRCm39) |
V1746A |
probably damaging |
Het |
Phf12 |
A |
T |
11: 77,913,896 (GRCm39) |
H446L |
possibly damaging |
Het |
Phlpp2 |
A |
G |
8: 110,622,138 (GRCm39) |
|
probably null |
Het |
Psmb9 |
A |
C |
17: 34,401,238 (GRCm39) |
V207G |
probably damaging |
Het |
Ptprh |
C |
A |
7: 4,600,997 (GRCm39) |
D127Y |
possibly damaging |
Het |
Rabep1 |
T |
G |
11: 70,811,733 (GRCm39) |
M535R |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Scin |
T |
C |
12: 40,110,515 (GRCm39) |
D711G |
probably damaging |
Het |
Sos1 |
T |
A |
17: 80,742,363 (GRCm39) |
E388V |
possibly damaging |
Het |
Spag5 |
A |
C |
11: 78,205,024 (GRCm39) |
Q603P |
probably damaging |
Het |
Supv3l1 |
G |
T |
10: 62,266,364 (GRCm39) |
T604N |
probably damaging |
Het |
Tbx5 |
A |
G |
5: 120,021,184 (GRCm39) |
S397G |
possibly damaging |
Het |
Tmprss5 |
A |
G |
9: 49,026,465 (GRCm39) |
D383G |
possibly damaging |
Het |
Trim43b |
A |
G |
9: 88,972,654 (GRCm39) |
W167R |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,609,160 (GRCm39) |
D1283V |
probably damaging |
Het |
Upf1 |
A |
T |
8: 70,786,730 (GRCm39) |
V918D |
probably benign |
Het |
Vmn2r100 |
A |
G |
17: 19,742,776 (GRCm39) |
I383M |
probably benign |
Het |
Zc3h3 |
G |
T |
15: 75,648,932 (GRCm39) |
S733R |
possibly damaging |
Het |
Zcchc2 |
C |
T |
1: 105,958,000 (GRCm39) |
P426S |
possibly damaging |
Het |
Zkscan7 |
A |
G |
9: 122,719,874 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCAAGCCTCTGAGACTGTGAATG -3'
(R):5'- ACTGCCCTGGGAAATATGAAGCAC -3'
Sequencing Primer
(F):5'- GTTTGAGTGTCCAAGTCCCC -3'
(R):5'- TGGGAAATATGAAGCACATCCCAG -3'
|
Posted On |
2013-05-23 |