Incidental Mutation 'R8233:Slfn4'
ID |
637231 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slfn4
|
Ensembl Gene |
ENSMUSG00000000204 |
Gene Name |
schlafen 4 |
Synonyms |
|
MMRRC Submission |
067665-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8233 (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 83078355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 381
(E381G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000208]
[ENSMUST00000019130]
[ENSMUST00000167596]
|
AlphaFold |
Q3UV66 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000208
AA Change: E381G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000000208 Gene: ENSMUSG00000000204 AA Change: E381G
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: E381G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132595 Gene: ENSMUSG00000000204 AA Change: E381G
Domain | Start | End | E-Value | Type |
Pfam:AAA_4
|
243 |
385 |
1e-14 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
A |
T |
18: 70,602,687 (GRCm39) |
V42E |
probably benign |
Het |
Abca12 |
T |
C |
1: 71,390,916 (GRCm39) |
E153G |
probably benign |
Het |
Adamts20 |
A |
C |
15: 94,189,533 (GRCm39) |
I1440S |
probably benign |
Het |
Aspm |
T |
A |
1: 139,385,042 (GRCm39) |
S229T |
probably benign |
Het |
Atp2b2 |
A |
T |
6: 113,742,680 (GRCm39) |
|
probably null |
Het |
Cd101 |
G |
T |
3: 100,900,989 (GRCm39) |
H1032N |
unknown |
Het |
Col6a2 |
A |
G |
10: 76,444,540 (GRCm39) |
|
probably null |
Het |
Crot |
A |
T |
5: 9,026,027 (GRCm39) |
I320K |
possibly damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,772,588 (GRCm39) |
D602E |
probably damaging |
Het |
Degs1 |
A |
G |
1: 182,107,160 (GRCm39) |
V69A |
probably benign |
Het |
Dgkz |
A |
G |
2: 91,769,994 (GRCm39) |
S557P |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,405,055 (GRCm39) |
L602Q |
|
Het |
Gli2 |
A |
T |
1: 118,772,167 (GRCm39) |
Y513N |
probably damaging |
Het |
H2-Q10 |
A |
G |
17: 35,781,983 (GRCm39) |
T202A |
probably benign |
Het |
Hnrnpa3 |
A |
G |
2: 75,492,860 (GRCm39) |
N195D |
probably benign |
Het |
Ifna1 |
C |
T |
4: 88,768,628 (GRCm39) |
T102I |
possibly damaging |
Het |
Igfbp3 |
T |
A |
11: 7,160,152 (GRCm39) |
H167L |
probably benign |
Het |
Igfn1 |
T |
C |
1: 135,895,782 (GRCm39) |
T1595A |
probably benign |
Het |
Krt14 |
A |
G |
11: 100,094,178 (GRCm39) |
V472A |
probably damaging |
Het |
Lrrc74b |
T |
A |
16: 17,376,089 (GRCm39) |
H187L |
probably benign |
Het |
Magoh |
T |
G |
4: 107,738,132 (GRCm39) |
V44G |
possibly damaging |
Het |
Mbnl1 |
A |
T |
3: 60,532,551 (GRCm39) |
I274L |
probably benign |
Het |
Or13a27 |
T |
G |
7: 139,925,411 (GRCm39) |
M164L |
probably benign |
Het |
Or4c108 |
C |
T |
2: 88,804,082 (GRCm39) |
R51H |
probably benign |
Het |
Pdcd1 |
A |
G |
1: 93,967,142 (GRCm39) |
V252A |
probably damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Plcxd3 |
A |
G |
15: 4,546,317 (GRCm39) |
D107G |
possibly damaging |
Het |
Polr2m |
T |
A |
9: 71,390,866 (GRCm39) |
D112V |
probably benign |
Het |
Ptprn |
A |
T |
1: 75,229,796 (GRCm39) |
M701K |
probably damaging |
Het |
Rxrb |
A |
G |
17: 34,255,879 (GRCm39) |
D421G |
possibly damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Srgap1 |
A |
G |
10: 121,661,341 (GRCm39) |
I530T |
probably damaging |
Het |
Stmn4 |
A |
G |
14: 66,595,341 (GRCm39) |
H122R |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 177,998,427 (GRCm39) |
E1031G |
probably damaging |
Het |
Tle1 |
T |
C |
4: 72,043,181 (GRCm39) |
T553A |
probably benign |
Het |
Tnik |
T |
A |
3: 28,609,086 (GRCm39) |
W217R |
unknown |
Het |
Tyrp1 |
T |
C |
4: 80,769,190 (GRCm39) |
V161A |
unknown |
Het |
Usp29 |
T |
A |
7: 6,965,406 (GRCm39) |
F416L |
probably benign |
Het |
Usp45 |
T |
C |
4: 21,781,736 (GRCm39) |
V34A |
probably benign |
Het |
Vmn1r119 |
A |
G |
7: 20,745,932 (GRCm39) |
V150A |
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 |
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 |
|
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'- AAAGTGCATCCAACAGCTGC -3'
(R):5'- GCCATTGTGAAGGGAAAAGCTC -3'
Sequencing Primer
(F):5'- CAGCTGCCTGTCACTCAC -3'
(R):5'- TTGTGAAGGGAAAAGCTCACAGC -3'
|
Posted On |
2020-07-13 |