Incidental Mutation 'IGL01073:Slfn1'
| ID |
52231 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slfn1
|
| Ensembl Gene |
ENSMUSG00000078763 |
| Gene Name |
schlafen 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01073
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83007675-83013496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83012163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 93
(Y93F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037994]
|
| AlphaFold |
Q9Z0I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037994
AA Change: Y93F
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000047782
Gene: ENSMUSG00000078763
AA Change: Y93F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
193 |
325 |
1.1e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214874
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation were normal life span. No change in thymus cellularity or alteration in the expression of a variety of cell surface markers were found. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd24 |
A |
G |
10: 81,475,156 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ccnd3 |
A |
G |
17: 47,905,770 (GRCm39) |
T104A |
probably benign |
Het |
| Cntnap5b |
A |
T |
1: 100,003,755 (GRCm39) |
D245V |
probably benign |
Het |
| Cryab |
A |
G |
9: 50,665,855 (GRCm39) |
K82R |
probably damaging |
Het |
| Dnmt3b |
G |
A |
2: 153,512,762 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
A |
T |
16: 20,319,046 (GRCm39) |
K99* |
probably null |
Het |
| Fam222b |
A |
G |
11: 78,045,314 (GRCm39) |
I292V |
probably damaging |
Het |
| Itpr1 |
A |
C |
6: 108,390,781 (GRCm39) |
N1560T |
probably benign |
Het |
| Lca5 |
T |
A |
9: 83,277,528 (GRCm39) |
K605N |
probably damaging |
Het |
| Letm1 |
T |
C |
5: 33,906,144 (GRCm39) |
D424G |
possibly damaging |
Het |
| Mtif3 |
C |
A |
5: 146,895,790 (GRCm39) |
R99L |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,221,510 (GRCm39) |
M430V |
probably benign |
Het |
| Or4c121 |
A |
T |
2: 89,023,481 (GRCm39) |
L299Q |
possibly damaging |
Het |
| Pgap2 |
T |
A |
7: 101,875,661 (GRCm39) |
|
probably benign |
Het |
| Phf11c |
A |
T |
14: 59,626,797 (GRCm39) |
S129T |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,354,086 (GRCm39) |
N154S |
probably damaging |
Het |
| Rfng |
C |
T |
11: 120,674,747 (GRCm39) |
R81H |
probably benign |
Het |
| Rnf38 |
A |
G |
4: 44,137,645 (GRCm39) |
M280T |
probably benign |
Het |
| Rrp7a |
G |
A |
15: 83,002,282 (GRCm39) |
A185V |
probably benign |
Het |
| Slc22a2 |
C |
A |
17: 12,803,236 (GRCm39) |
F23L |
probably benign |
Het |
| Slc35f1 |
A |
G |
10: 52,898,056 (GRCm39) |
T156A |
probably benign |
Het |
| Snrnp200 |
A |
T |
2: 127,056,832 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
G |
17: 80,730,176 (GRCm39) |
F701S |
probably damaging |
Het |
| Tmem203 |
A |
C |
2: 25,145,736 (GRCm39) |
I19L |
probably benign |
Het |
| Usp8 |
A |
T |
2: 126,560,034 (GRCm39) |
K18N |
probably damaging |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,971 (GRCm39) |
R286K |
probably benign |
Het |
| Vmn2r23 |
A |
C |
6: 123,689,759 (GRCm39) |
T212P |
possibly damaging |
Het |
|
| Other mutations in Slfn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0193:Slfn1
|
UTSW |
11 |
83,012,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0414:Slfn1
|
UTSW |
11 |
83,012,096 (GRCm39) |
missense |
probably benign |
|
|
R0736:Slfn1
|
UTSW |
11 |
83,011,907 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1398:Slfn1
|
UTSW |
11 |
83,011,968 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1508:Slfn1
|
UTSW |
11 |
83,012,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Slfn1
|
UTSW |
11 |
83,012,579 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2207:Slfn1
|
UTSW |
11 |
83,011,992 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3079:Slfn1
|
UTSW |
11 |
83,011,986 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4572:Slfn1
|
UTSW |
11 |
83,012,289 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4700:Slfn1
|
UTSW |
11 |
83,012,475 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4731:Slfn1
|
UTSW |
11 |
83,012,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5907:Slfn1
|
UTSW |
11 |
83,012,002 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5934:Slfn1
|
UTSW |
11 |
83,012,770 (GRCm39) |
nonsense |
probably null |
|
|
R7206:Slfn1
|
UTSW |
11 |
83,012,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7421:Slfn1
|
UTSW |
11 |
83,011,967 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7711:Slfn1
|
UTSW |
11 |
83,012,089 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8223:Slfn1
|
UTSW |
11 |
83,012,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9251:Slfn1
|
UTSW |
11 |
83,012,121 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-06-21 |
Incidental Mutation