Incidental Mutation 'R8671:Slfn3'
| ID |
661170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn3
|
| Ensembl Gene |
ENSMUSG00000018986 |
| Gene Name |
schlafen 3 |
| Synonyms |
|
| MMRRC Submission |
068526-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83082156-83105980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83103825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 232
(V232E)
|
| 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: V109E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: V109E
| 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: V232E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (48/48) |
| 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 |
|---|
| 2310002L09Rik |
C |
T |
4: 73,861,166 (GRCm39) |
E145K |
probably damaging |
Het |
| Ambp |
A |
T |
4: 63,068,656 (GRCm39) |
Y120* |
probably null |
Het |
| Ankrd36 |
C |
T |
11: 5,579,312 (GRCm39) |
A192V |
probably benign |
Het |
| Apol7e |
A |
T |
15: 77,601,803 (GRCm39) |
M134L |
probably benign |
Het |
| Atg9b |
A |
T |
5: 24,591,107 (GRCm39) |
N774K |
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,560,596 (GRCm39) |
N862K |
possibly damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,646,948 (GRCm39) |
D648V |
probably damaging |
Het |
| Cfap54 |
G |
T |
10: 92,790,934 (GRCm39) |
P1855T |
unknown |
Het |
| Clcnkb |
T |
A |
4: 141,139,541 (GRCm39) |
T154S |
probably damaging |
Het |
| Cux1 |
C |
T |
5: 136,279,454 (GRCm39) |
R609H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,252,667 (GRCm39) |
D413G |
possibly damaging |
Het |
| Elp1 |
A |
G |
4: 56,771,453 (GRCm39) |
L948P |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,443,501 (GRCm39) |
|
probably null |
Het |
| Grm5 |
T |
C |
7: 87,765,498 (GRCm39) |
|
probably null |
Het |
| Hectd3 |
T |
G |
4: 116,853,778 (GRCm39) |
F225V |
possibly damaging |
Het |
| Hpcal4 |
G |
T |
4: 123,082,976 (GRCm39) |
M107I |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Larp4 |
C |
A |
15: 99,908,339 (GRCm39) |
Q607K |
probably benign |
Het |
| Marchf8 |
A |
G |
6: 116,378,815 (GRCm39) |
R250G |
probably benign |
Het |
| Med13 |
A |
C |
11: 86,161,923 (GRCm39) |
N2135K |
probably damaging |
Het |
| Msh5 |
T |
A |
17: 35,264,909 (GRCm39) |
R89* |
probably null |
Het |
| Musk |
T |
G |
4: 58,286,051 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,022,609 (GRCm39) |
Q261R |
unknown |
Het |
| Npr1 |
A |
T |
3: 90,363,464 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,107,899 (GRCm39) |
V1002E |
possibly damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,804 (GRCm39) |
Y194C |
possibly damaging |
Het |
| Or4c103 |
A |
T |
2: 88,513,449 (GRCm39) |
F209Y |
probably benign |
Het |
| Or4f14c |
T |
A |
2: 111,941,333 (GRCm39) |
K88M |
probably damaging |
Het |
| Or5w15 |
A |
T |
2: 87,567,990 (GRCm39) |
L226Q |
probably damaging |
Het |
| Pcare |
G |
T |
17: 72,058,372 (GRCm39) |
A435E |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,126,086 (GRCm39) |
Y28C |
probably damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Potefam1 |
T |
C |
2: 111,059,877 (GRCm39) |
|
probably benign |
Het |
| Potefam3e |
T |
A |
8: 19,784,775 (GRCm39) |
L203* |
probably null |
Het |
| Prkd1 |
T |
A |
12: 50,435,191 (GRCm39) |
N512I |
probably benign |
Het |
| Pwwp2b |
C |
T |
7: 138,836,326 (GRCm39) |
P589L |
probably damaging |
Het |
| Rasgrp4 |
G |
A |
7: 28,842,452 (GRCm39) |
G242D |
probably damaging |
Het |
| Rcbtb1 |
T |
G |
14: 59,467,973 (GRCm39) |
V480G |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,501 (GRCm39) |
S945G |
probably benign |
Het |
| Slc22a2 |
C |
T |
17: 12,824,863 (GRCm39) |
Q242* |
probably null |
Het |
| Stab1 |
T |
A |
14: 30,879,365 (GRCm39) |
K705M |
probably damaging |
Het |
| Syn2 |
C |
A |
6: 115,255,128 (GRCm39) |
S480* |
probably null |
Het |
| Thsd4 |
A |
T |
9: 60,301,728 (GRCm39) |
L189H |
probably damaging |
Het |
| Tinagl1 |
T |
C |
4: 130,061,597 (GRCm39) |
T250A |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,935,683 (GRCm39) |
C418S |
probably damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,683,385 (GRCm39) |
E110G |
probably damaging |
Het |
| Wdfy4 |
G |
T |
14: 32,693,722 (GRCm39) |
|
probably benign |
Het |
| Xcl1 |
T |
C |
1: 164,759,419 (GRCm39) |
M94V |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,095 (GRCm39) |
S413P |
possibly damaging |
Het |
| Zfp454 |
A |
C |
11: 50,764,595 (GRCm39) |
I279S |
possibly damaging |
Het |
| Zfp971 |
A |
C |
2: 177,675,730 (GRCm39) |
Q443P |
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 |
|
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 |
|
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'- ACCCGGTATCATGCACCTTC -3'
(R):5'- TTGAGGGAGGAGCTCTAAAATC -3'
Sequencing Primer
(F):5'- GGTATCATGCACCTTCCTCATGAC -3'
(R):5'- GAGGGAGGAGCTCTAAAATCTTTTCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation