Incidental Mutation 'R0788:Slfn3'
| ID |
76363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn3
|
| Ensembl Gene |
ENSMUSG00000018986 |
| Gene Name |
schlafen 3 |
| Synonyms |
|
| MMRRC Submission |
038968-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0788 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83082156-83105980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83103662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 178
(G178S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019130]
[ENSMUST00000214041]
|
| AlphaFold |
A0A1L1STQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019130
AA Change: G55S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: G55S
| 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 |
possibly damaging
Transcript: ENSMUST00000214041
AA Change: G178S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216599
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.0%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal immune cell populations. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,610,468 (GRCm39) |
Y380* |
probably null |
Het |
| 4931406B18Rik |
C |
A |
7: 43,148,623 (GRCm39) |
S196I |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 36,015,245 (GRCm39) |
S519P |
probably benign |
Het |
| Adnp2 |
A |
C |
18: 80,173,219 (GRCm39) |
C397G |
probably benign |
Het |
| Aldh1l2 |
A |
G |
10: 83,352,028 (GRCm39) |
S156P |
probably damaging |
Het |
| Bcl2l15 |
G |
T |
3: 103,740,794 (GRCm39) |
|
probably null |
Het |
| Brd9 |
T |
A |
13: 74,092,986 (GRCm39) |
|
probably benign |
Het |
| Cars2 |
A |
C |
8: 11,579,672 (GRCm39) |
I262R |
possibly damaging |
Het |
| Ccdc106 |
T |
C |
7: 5,060,533 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
G |
A |
8: 107,268,047 (GRCm39) |
V361M |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,809,332 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
G |
4: 70,225,468 (GRCm39) |
I559T |
possibly damaging |
Het |
| Cdkn2aip |
T |
A |
8: 48,166,798 (GRCm39) |
Q3L |
possibly damaging |
Het |
| Chd1 |
G |
T |
17: 15,927,376 (GRCm39) |
V10F |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,949,197 (GRCm39) |
K813E |
probably benign |
Het |
| Cttnbp2 |
G |
A |
6: 18,423,834 (GRCm39) |
T830I |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,854,588 (GRCm39) |
M23V |
probably null |
Het |
| Cyp3a16 |
T |
C |
5: 145,401,886 (GRCm39) |
K59E |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,946,185 (GRCm39) |
|
probably null |
Het |
| E130308A19Rik |
T |
A |
4: 59,719,847 (GRCm39) |
Y460N |
possibly damaging |
Het |
| Ear6 |
T |
A |
14: 52,091,487 (GRCm39) |
C11* |
probably null |
Het |
| Fat1 |
C |
T |
8: 45,477,020 (GRCm39) |
T1999M |
probably benign |
Het |
| Gsdmd |
T |
A |
15: 75,736,103 (GRCm39) |
C77* |
probably null |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
T |
1: 179,532,788 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
A |
G |
15: 101,585,954 (GRCm39) |
I373T |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,288,902 (GRCm39) |
T509A |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,854,482 (GRCm39) |
P1354S |
probably benign |
Het |
| Nat10 |
A |
G |
2: 103,573,460 (GRCm39) |
S346P |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,237,113 (GRCm39) |
|
probably benign |
Het |
| Necap1 |
C |
T |
6: 122,858,495 (GRCm39) |
R113W |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,035 (GRCm39) |
Y261N |
possibly damaging |
Het |
| Orc4 |
A |
T |
2: 48,827,479 (GRCm39) |
V38E |
possibly damaging |
Het |
| Per1 |
G |
A |
11: 68,992,185 (GRCm39) |
|
probably benign |
Het |
| Polb |
T |
C |
8: 23,132,354 (GRCm39) |
D130G |
probably null |
Het |
| Ppcs |
T |
C |
4: 119,279,375 (GRCm39) |
N59S |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,003,969 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ptprf |
T |
C |
4: 118,083,663 (GRCm39) |
T807A |
probably damaging |
Het |
| Rapgef2 |
A |
C |
3: 79,006,502 (GRCm39) |
F284V |
possibly damaging |
Het |
| Sestd1 |
A |
T |
2: 77,022,060 (GRCm39) |
F544I |
probably damaging |
Het |
| Supt6 |
G |
A |
11: 78,098,598 (GRCm39) |
|
probably benign |
Het |
| Tas2r109 |
T |
A |
6: 132,957,264 (GRCm39) |
Q222L |
probably benign |
Het |
| Tekt4 |
A |
C |
17: 25,691,021 (GRCm39) |
D109A |
probably damaging |
Het |
| Tob2 |
C |
A |
15: 81,735,903 (GRCm39) |
R22L |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,653,282 (GRCm39) |
E178D |
possibly damaging |
Het |
| Ube2u |
C |
A |
4: 100,371,937 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,332,812 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
T |
C |
11: 16,209,968 (GRCm39) |
F65L |
probably damaging |
Het |
| Zfp57 |
A |
G |
17: 37,317,092 (GRCm39) |
|
probably benign |
Het |
| Znrf3 |
G |
T |
11: 5,231,320 (GRCm39) |
P731Q |
probably benign |
Het |
|
| Other mutations in Slfn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00843:Slfn3
|
APN |
11 |
83,104,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01405:Slfn3
|
APN |
11 |
83,105,542 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01631:Slfn3
|
APN |
11 |
83,104,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01944:Slfn3
|
APN |
11 |
83,103,974 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02354:Slfn3
|
APN |
11 |
83,104,068 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02361:Slfn3
|
APN |
11 |
83,104,068 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02512:Slfn3
|
APN |
11 |
83,103,851 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02875:Slfn3
|
APN |
11 |
83,104,253 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02944:Slfn3
|
APN |
11 |
83,103,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03402:Slfn3
|
APN |
11 |
83,104,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Slfn3
|
UTSW |
11 |
83,103,954 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0506:Slfn3
|
UTSW |
11 |
83,103,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0560:Slfn3
|
UTSW |
11 |
83,103,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1602:Slfn3
|
UTSW |
11 |
83,103,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Slfn3
|
UTSW |
11 |
83,104,140 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1881:Slfn3
|
UTSW |
11 |
83,104,202 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2264:Slfn3
|
UTSW |
11 |
83,103,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2441:Slfn3
|
UTSW |
11 |
83,103,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2921:Slfn3
|
UTSW |
11 |
83,105,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4163:Slfn3
|
UTSW |
11 |
83,103,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5099:Slfn3
|
UTSW |
11 |
83,105,764 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5448:Slfn3
|
UTSW |
11 |
83,105,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6441:Slfn3
|
UTSW |
11 |
83,105,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6527:Slfn3
|
UTSW |
11 |
83,103,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6785:Slfn3
|
UTSW |
11 |
83,105,427 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7128:Slfn3
|
UTSW |
11 |
83,105,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7344:Slfn3
|
UTSW |
11 |
83,103,648 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7528:Slfn3
|
UTSW |
11 |
83,105,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7763:Slfn3
|
UTSW |
11 |
83,105,614 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8155:Slfn3
|
UTSW |
11 |
83,103,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8178:Slfn3
|
UTSW |
11 |
83,105,505 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8210:Slfn3
|
UTSW |
11 |
83,105,332 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8347:Slfn3
|
UTSW |
11 |
83,104,415 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8671:Slfn3
|
UTSW |
11 |
83,103,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9093:Slfn3
|
UTSW |
11 |
83,103,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9106:Slfn3
|
UTSW |
11 |
83,103,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9293:Slfn3
|
UTSW |
11 |
83,105,616 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9362:Slfn3
|
UTSW |
11 |
83,103,807 (GRCm39) |
missense |
probably benign |
|
|
R9521:Slfn3
|
UTSW |
11 |
83,103,825 (GRCm39) |
missense |
probably benign |
|
|
R9522:Slfn3
|
UTSW |
11 |
83,103,825 (GRCm39) |
missense |
probably benign |
|
|
R9644:Slfn3
|
UTSW |
11 |
83,105,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Slfn3
|
UTSW |
11 |
83,104,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGACACAGACTATGCTGAACTGG -3'
(R):5'- TGGATTTGAGGAGCTGCACTGC -3'
Sequencing Primer
(F):5'- TTATTGGAGAAATCACACTTGGAGAG -3'
(R):5'- AGCTGCACTGCATTCGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation