Incidental Mutation 'R0736:Slfn1'
| ID |
67302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn1
|
| Ensembl Gene |
ENSMUSG00000078763 |
| Gene Name |
schlafen 1 |
| Synonyms |
|
| MMRRC Submission |
038917-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0736 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83007675-83013496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83011907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 8
(T8S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037994]
|
| AlphaFold |
Q9Z0I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037994
AA Change: T8S
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000047782
Gene: ENSMUSG00000078763
AA Change: T8S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
193 |
325 |
1.1e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214874
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.6%
- 20x: 95.3%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn1 |
G |
A |
6: 149,084,970 (GRCm39) |
H37Y |
possibly damaging |
Het |
| Cacna2d3 |
A |
T |
14: 28,780,585 (GRCm39) |
H644Q |
probably benign |
Het |
| Calb1 |
G |
A |
4: 15,898,917 (GRCm39) |
V138M |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,765 (GRCm39) |
T402N |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,875,078 (GRCm39) |
A26T |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,731,811 (GRCm39) |
V1481I |
possibly damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,286,101 (GRCm39) |
V2695I |
probably damaging |
Het |
| Elapor2 |
A |
T |
5: 9,491,745 (GRCm39) |
S702C |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,943,344 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,500,432 (GRCm39) |
M461I |
probably benign |
Het |
| Mapk9 |
G |
A |
11: 49,774,081 (GRCm39) |
D413N |
possibly damaging |
Het |
| Morc4 |
G |
T |
X: 138,755,700 (GRCm39) |
Q239K |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,877,813 (GRCm39) |
V488D |
unknown |
Het |
| Neb |
A |
T |
2: 52,082,024 (GRCm39) |
Y24N |
probably damaging |
Het |
| Neo1 |
G |
A |
9: 58,824,364 (GRCm39) |
P688L |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,783,375 (GRCm39) |
D409V |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,051,659 (GRCm39) |
V1231A |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,285,207 (GRCm39) |
N327D |
probably damaging |
Het |
| Pdzd8 |
C |
A |
19: 59,333,365 (GRCm39) |
V219L |
probably damaging |
Het |
| Pgc |
T |
A |
17: 48,039,705 (GRCm39) |
M33K |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,758 (GRCm39) |
T154S |
possibly damaging |
Het |
| Polm |
G |
C |
11: 5,785,495 (GRCm39) |
S188C |
possibly damaging |
Het |
| St8sia6 |
C |
T |
2: 13,673,696 (GRCm39) |
V179M |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,469,474 (GRCm39) |
F274I |
possibly damaging |
Het |
| Tspan5 |
T |
C |
3: 138,574,159 (GRCm39) |
|
probably null |
Het |
| Utp14b |
A |
G |
1: 78,642,989 (GRCm39) |
K296E |
probably damaging |
Het |
| Zbtb14 |
A |
G |
17: 69,694,797 (GRCm39) |
E165G |
possibly damaging |
Het |
| Zbtb17 |
C |
A |
4: 141,189,097 (GRCm39) |
H6N |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,432 (GRCm39) |
H286Y |
probably benign |
Het |
|
| Other mutations in Slfn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01073:Slfn1
|
APN |
11 |
83,012,163 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0193:Slfn1
|
UTSW |
11 |
83,012,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0414:Slfn1
|
UTSW |
11 |
83,012,096 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATAGGCAAGTGGCTCTTGTGC -3'
(R):5'- GCTTCCCAACAGAGACATCTGGAC -3'
Sequencing Primer
(F):5'- CGGAATCTGAGTTCCATAACATTGAC -3'
(R):5'- CAGAGACATCTGGACTCTGTG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation