Incidental Mutation 'R4025:Slfn4'
| ID |
313454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn4
|
| Ensembl Gene |
ENSMUSG00000000204 |
| Gene Name |
schlafen 4 |
| Synonyms |
|
| MMRRC Submission |
040958-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4025 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83066012-83081042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83078040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 276
(N276I)
|
| 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: N276I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000208
Gene: ENSMUSG00000000204
AA Change: N276I
| 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: N276I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132595
Gene: ENSMUSG00000000204
AA Change: N276I
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 80,011,512 (GRCm39) |
D1293G |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,168,624 (GRCm39) |
K1428N |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,552,905 (GRCm39) |
S121P |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Gm9920 |
A |
G |
15: 54,975,966 (GRCm39) |
R25G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,735,706 (GRCm39) |
A1651V |
probably benign |
Het |
| Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
Het |
| Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,389 (GRCm39) |
I29V |
probably benign |
Het |
| Odf2 |
C |
T |
2: 29,816,827 (GRCm39) |
R763W |
probably damaging |
Het |
| Or8d4 |
T |
C |
9: 40,038,796 (GRCm39) |
T154A |
probably benign |
Het |
| Papss2 |
T |
C |
19: 32,629,323 (GRCm39) |
I304T |
probably damaging |
Het |
| Polr2a |
T |
A |
11: 69,634,485 (GRCm39) |
I693F |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,236,583 (GRCm39) |
I454N |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,316,378 (GRCm39) |
E2366G |
probably benign |
Het |
| Slc22a20 |
T |
C |
19: 6,035,808 (GRCm39) |
T121A |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,525,685 (GRCm39) |
S262P |
probably damaging |
Het |
| Spag7 |
C |
A |
11: 70,555,300 (GRCm39) |
E130D |
probably damaging |
Het |
| Spns1 |
A |
T |
7: 125,976,118 (GRCm39) |
C28* |
probably null |
Het |
| Stab1 |
C |
T |
14: 30,876,909 (GRCm39) |
G805D |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,171,800 (GRCm39) |
D41G |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,841,776 (GRCm39) |
|
probably benign |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,341,746 (GRCm39) |
D1329G |
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 |
|
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 |
|
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'- ATCCAGACCAAGTTCCCATG -3'
(R):5'- GTGCACTTCGATGAATTTGCAC -3'
Sequencing Primer
(F):5'- GTTCCCATGGAAAAACAGTCTG -3'
(R):5'- CACTTCGATGAATTTGCACGTGTAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation