Incidental Mutation 'R2921:Slfn3'
| ID |
255539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn3
|
| Ensembl Gene |
ENSMUSG00000018986 |
| Gene Name |
schlafen 3 |
| Synonyms |
|
| MMRRC Submission |
040506-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2921 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83082156-83105980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83105871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 623
(M623V)
|
| 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: M500V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: M500V
| 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 benign
Transcript: ENSMUST00000214041
AA Change: M623V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216599
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
| Adipor1 |
T |
C |
1: 134,353,731 (GRCm39) |
V172A |
possibly damaging |
Het |
| Akt2 |
A |
G |
7: 27,328,411 (GRCm39) |
K146R |
probably benign |
Het |
| Atg4a |
T |
C |
X: 139,941,768 (GRCm39) |
V284A |
possibly damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
| Ccn5 |
G |
A |
2: 163,674,266 (GRCm39) |
R222Q |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dpm3 |
C |
T |
3: 89,174,062 (GRCm39) |
L8F |
probably damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,463 (GRCm39) |
S13P |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,023,707 (GRCm39) |
S83P |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,578,875 (GRCm39) |
I1249N |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,240,333 (GRCm39) |
E17V |
probably benign |
Het |
| Gm57858 |
T |
C |
3: 36,080,077 (GRCm39) |
M227V |
probably null |
Het |
| Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,472,866 (GRCm39) |
|
probably null |
Het |
| Hdc |
G |
A |
2: 126,435,910 (GRCm39) |
P654S |
probably damaging |
Het |
| Hgd |
T |
C |
16: 37,439,330 (GRCm39) |
F213L |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
| Mboat2 |
T |
A |
12: 25,004,239 (GRCm39) |
W347R |
probably damaging |
Het |
| Mlkl |
T |
C |
8: 112,043,079 (GRCm39) |
E356G |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,204,776 (GRCm39) |
I125N |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,334,223 (GRCm39) |
Y42N |
probably damaging |
Het |
| Nup155 |
A |
C |
15: 8,183,125 (GRCm39) |
E1228D |
probably damaging |
Het |
| Or4c113 |
A |
G |
2: 88,884,843 (GRCm39) |
V309A |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,626,885 (GRCm39) |
N1218D |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,033,082 (GRCm39) |
I449N |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
| Rfx7 |
G |
A |
9: 72,524,946 (GRCm39) |
G712D |
possibly damaging |
Het |
| Rnf151 |
C |
T |
17: 24,935,235 (GRCm39) |
G232D |
possibly damaging |
Het |
| Rpl22 |
C |
A |
4: 152,412,002 (GRCm39) |
T26N |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
| Safb2 |
A |
G |
17: 56,875,906 (GRCm39) |
V89A |
possibly damaging |
Het |
| Setx |
TGTGG |
TG |
2: 29,044,072 (GRCm39) |
|
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc24a2 |
A |
G |
4: 86,909,591 (GRCm39) |
V660A |
possibly damaging |
Het |
| Slc26a2 |
T |
A |
18: 61,335,007 (GRCm39) |
I149F |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,254,248 (GRCm39) |
D728G |
probably damaging |
Het |
| Smim1 |
A |
G |
4: 154,108,097 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
T |
C |
15: 76,168,125 (GRCm39) |
S195P |
probably damaging |
Het |
| Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
| Trpc6 |
A |
T |
9: 8,653,034 (GRCm39) |
L613F |
possibly damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,790,459 (GRCm39) |
V482E |
probably damaging |
Het |
| Zdhhc18 |
G |
T |
4: 133,360,455 (GRCm39) |
H82Q |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,494,224 (GRCm39) |
E273G |
probably damaging |
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 |
|
R0788:Slfn3
|
UTSW |
11 |
83,103,662 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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 |
|
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'- GTGGTTACACTGCGGAAATAGG -3'
(R):5'- AGCTCAAAGTCACATTTTCCTGTAG -3'
Sequencing Primer
(F):5'- GGGTCATAAGACAATGTGTC -3'
(R):5'- CTGTGAAACATCATTGTGCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation