Incidental Mutation 'R8814:Slfn8'
| ID |
672623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn8
|
| Ensembl Gene |
ENSMUSG00000035208 |
| Gene Name |
schlafen 8 |
| Synonyms |
|
| MMRRC Submission |
068649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R8814 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83002158-83020810 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83016679 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 346
(V346A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038141]
[ENSMUST00000092838]
[ENSMUST00000108152]
[ENSMUST00000130822]
[ENSMUST00000215239]
|
| AlphaFold |
B1ARD8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038141
AA Change: V346A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: V346A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
1.6e-18 |
PFAM |
|
Pfam:DUF2075
|
592 |
766 |
5.8e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092838
AA Change: V346A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: V346A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
205 |
341 |
1.4e-17 |
PFAM |
|
Pfam:DUF2075
|
592 |
767 |
2.2e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108152
AA Change: V346A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: V346A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130822
AA Change: V346A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: V346A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
205 |
343 |
3.7e-19 |
PFAM |
|
SCOP:d1ly1a_
|
593 |
625 |
4e-3 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208
AA Change: V167A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
27 |
163 |
1.8e-15 |
PFAM |
|
SCOP:d1ly1a_
|
370 |
402 |
2e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215239
AA Change: V346A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4922502D21Rik |
T |
C |
6: 129,325,604 (GRCm38) |
|
probably benign |
Het |
| Brd7 |
A |
G |
8: 88,345,154 (GRCm38) |
V361A |
probably benign |
Het |
| C6 |
A |
T |
15: 4,792,784 (GRCm38) |
Q595L |
probably benign |
Het |
| Cacna2d3 |
T |
A |
14: 29,097,815 (GRCm38) |
Y532F |
probably damaging |
Het |
| Cep85l |
A |
T |
10: 53,348,969 (GRCm38) |
Y175N |
probably benign |
Het |
| Clca3a2 |
G |
T |
3: 144,797,764 (GRCm38) |
N808K |
probably benign |
Het |
| Cpsf4 |
T |
G |
5: 145,178,868 (GRCm38) |
S201R |
probably benign |
Het |
| Crispld2 |
A |
G |
8: 120,015,345 (GRCm38) |
H144R |
possibly damaging |
Het |
| Cyp1b1 |
T |
C |
17: 79,713,359 (GRCm38) |
E318G |
probably benign |
Het |
| Fam109a |
G |
T |
5: 121,853,045 (GRCm38) |
V157L |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 156,052,243 (GRCm38) |
F47L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,927,409 (GRCm38) |
D1873G |
probably damaging |
Het |
| Gm47995 |
A |
G |
1: 151,198,988 (GRCm38) |
M181V |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,652,701 (GRCm38) |
Y346C |
probably damaging |
Het |
| Hemgn |
G |
T |
4: 46,400,717 (GRCm38) |
Q48K |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,051,472 (GRCm38) |
D143G |
probably damaging |
Het |
| Ift74 |
C |
T |
4: 94,662,636 (GRCm38) |
Q342* |
probably null |
Het |
| Kng2 |
A |
T |
16: 23,004,011 (GRCm38) |
I197N |
probably benign |
Het |
| Lcat |
G |
A |
8: 105,941,970 (GRCm38) |
P167S |
probably damaging |
Het |
| Lmntd2 |
G |
A |
7: 141,210,084 (GRCm38) |
R672W |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,941,625 (GRCm38) |
L1037F |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,872,320 (GRCm38) |
S640P |
probably damaging |
Het |
| Mterf1b |
T |
C |
5: 4,197,456 (GRCm38) |
S366P |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,630,101 (GRCm38) |
C643S |
probably damaging |
Het |
| Olfr1164 |
T |
A |
2: 88,092,971 (GRCm38) |
I322F |
probably benign |
Het |
| Olfr1496 |
T |
A |
19: 13,781,533 (GRCm38) |
I305N |
possibly damaging |
Het |
| Olfr485 |
T |
A |
7: 108,159,065 (GRCm38) |
K269N |
probably benign |
Het |
| Olfr605 |
A |
G |
7: 103,442,913 (GRCm38) |
V70A |
probably benign |
Het |
| Olfr709-ps1 |
T |
A |
7: 106,926,818 (GRCm38) |
I214F |
probably damaging |
Het |
| Pask |
C |
A |
1: 93,320,585 (GRCm38) |
R998L |
probably benign |
Het |
| Pcdh8 |
A |
G |
14: 79,768,897 (GRCm38) |
L742P |
probably benign |
Het |
| Psma3 |
A |
G |
12: 70,978,806 (GRCm38) |
E32G |
probably benign |
Het |
| Samd11 |
T |
C |
4: 156,247,884 (GRCm38) |
E500G |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,294,092 (GRCm38) |
D305E |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 32,978,304 (GRCm38) |
H362R |
possibly damaging |
Het |
| Siglec1 |
G |
A |
2: 131,072,744 (GRCm38) |
T1484M |
probably damaging |
Het |
| Slitrk6 |
G |
C |
14: 110,749,938 (GRCm38) |
A779G |
probably benign |
Het |
| Soga1 |
C |
T |
2: 157,030,531 (GRCm38) |
W965* |
probably null |
Het |
| Sub1 |
A |
C |
15: 11,984,231 (GRCm38) |
V124G |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,196,592 (GRCm38) |
I277T |
possibly damaging |
Het |
| Tln2 |
C |
A |
9: 67,221,411 (GRCm38) |
E1465D |
possibly damaging |
Het |
| Trappc10 |
A |
G |
10: 78,202,919 (GRCm38) |
Y780H |
probably damaging |
Het |
| Trim28 |
T |
A |
7: 13,028,527 (GRCm38) |
N359K |
probably damaging |
Het |
| Tspan15 |
G |
A |
10: 62,188,056 (GRCm38) |
T281M |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,866,398 (GRCm38) |
N396D |
possibly damaging |
Het |
| Vmn1r84 |
A |
G |
7: 12,362,458 (GRCm38) |
S103P |
probably damaging |
Het |
| Vmn2r22 |
C |
G |
6: 123,637,830 (GRCm38) |
R267T |
probably damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,716,563 (GRCm38) |
I112T |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,565,961 (GRCm38) |
I122F |
probably benign |
Het |
| Vmn2r79 |
C |
G |
7: 87,002,506 (GRCm38) |
T371S |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,576,650 (GRCm38) |
L1230P |
probably damaging |
Het |
| Zfp26 |
A |
T |
9: 20,438,434 (GRCm38) |
V278D |
probably benign |
Het |
|
| Other mutations in Slfn8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Slfn8
|
APN |
11 |
83,013,484 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL01418:Slfn8
|
APN |
11 |
83,004,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01620:Slfn8
|
APN |
11 |
83,004,233 (GRCm38) |
nonsense |
probably null |
|
|
IGL01875:Slfn8
|
APN |
11 |
83,004,079 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL01896:Slfn8
|
APN |
11 |
83,003,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01929:Slfn8
|
APN |
11 |
83,003,405 (GRCm38) |
nonsense |
probably null |
|
|
IGL02111:Slfn8
|
APN |
11 |
83,004,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02136:Slfn8
|
APN |
11 |
83,003,465 (GRCm38) |
nonsense |
probably null |
|
|
IGL02165:Slfn8
|
APN |
11 |
83,017,196 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02645:Slfn8
|
APN |
11 |
83,003,554 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02682:Slfn8
|
APN |
11 |
83,003,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02689:Slfn8
|
APN |
11 |
83,017,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02948:Slfn8
|
APN |
11 |
83,003,252 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03037:Slfn8
|
APN |
11 |
83,003,252 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03185:Slfn8
|
APN |
11 |
83,017,507 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03243:Slfn8
|
APN |
11 |
83,003,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03286:Slfn8
|
APN |
11 |
83,013,468 (GRCm38) |
missense |
probably damaging |
0.99 |
|
seven_dwarfs
|
UTSW |
11 |
83,003,334 (GRCm38) |
missense |
probably benign |
0.09 |
|
vanwinkle
|
UTSW |
11 |
83,017,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0295:Slfn8
|
UTSW |
11 |
83,003,343 (GRCm38) |
nonsense |
probably null |
|
|
R0368:Slfn8
|
UTSW |
11 |
83,017,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0382:Slfn8
|
UTSW |
11 |
83,004,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0655:Slfn8
|
UTSW |
11 |
83,003,821 (GRCm38) |
missense |
probably benign |
0.35 |
|
R0894:Slfn8
|
UTSW |
11 |
83,003,581 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1006:Slfn8
|
UTSW |
11 |
83,003,511 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R1181:Slfn8
|
UTSW |
11 |
83,016,745 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1187:Slfn8
|
UTSW |
11 |
83,003,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1501:Slfn8
|
UTSW |
11 |
83,003,180 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1646:Slfn8
|
UTSW |
11 |
83,016,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1909:Slfn8
|
UTSW |
11 |
83,003,621 (GRCm38) |
nonsense |
probably null |
|
|
R2005:Slfn8
|
UTSW |
11 |
83,004,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2363:Slfn8
|
UTSW |
11 |
83,004,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3780:Slfn8
|
UTSW |
11 |
83,017,454 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3890:Slfn8
|
UTSW |
11 |
83,004,444 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R3917:Slfn8
|
UTSW |
11 |
83,016,993 (GRCm38) |
nonsense |
probably null |
|
|
R4559:Slfn8
|
UTSW |
11 |
83,004,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Slfn8
|
UTSW |
11 |
83,017,506 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4767:Slfn8
|
UTSW |
11 |
83,003,197 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4773:Slfn8
|
UTSW |
11 |
83,017,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4859:Slfn8
|
UTSW |
11 |
83,017,714 (GRCm38) |
start codon destroyed |
probably null |
0.99 |
|
R4916:Slfn8
|
UTSW |
11 |
83,016,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4939:Slfn8
|
UTSW |
11 |
83,003,285 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5107:Slfn8
|
UTSW |
11 |
83,017,150 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5130:Slfn8
|
UTSW |
11 |
83,003,821 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5165:Slfn8
|
UTSW |
11 |
83,017,127 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5238:Slfn8
|
UTSW |
11 |
83,013,388 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5282:Slfn8
|
UTSW |
11 |
83,017,724 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5311:Slfn8
|
UTSW |
11 |
83,004,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5499:Slfn8
|
UTSW |
11 |
83,004,216 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5617:Slfn8
|
UTSW |
11 |
83,004,721 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5782:Slfn8
|
UTSW |
11 |
83,017,041 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5823:Slfn8
|
UTSW |
11 |
83,016,736 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5886:Slfn8
|
UTSW |
11 |
83,003,334 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5933:Slfn8
|
UTSW |
11 |
83,003,335 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6151:Slfn8
|
UTSW |
11 |
83,017,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6163:Slfn8
|
UTSW |
11 |
83,003,864 (GRCm38) |
makesense |
probably null |
|
|
R6191:Slfn8
|
UTSW |
11 |
83,016,800 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6419:Slfn8
|
UTSW |
11 |
83,004,055 (GRCm38) |
splice site |
probably null |
|
|
R6925:Slfn8
|
UTSW |
11 |
83,013,417 (GRCm38) |
nonsense |
probably null |
|
|
R7065:Slfn8
|
UTSW |
11 |
83,016,968 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7380:Slfn8
|
UTSW |
11 |
83,003,740 (GRCm38) |
missense |
not run |
|
|
R7414:Slfn8
|
UTSW |
11 |
83,016,792 (GRCm38) |
nonsense |
probably null |
|
|
R7819:Slfn8
|
UTSW |
11 |
83,004,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8425:Slfn8
|
UTSW |
11 |
83,004,615 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8517:Slfn8
|
UTSW |
11 |
83,004,142 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8804:Slfn8
|
UTSW |
11 |
83,016,813 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9069:Slfn8
|
UTSW |
11 |
83,017,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9233:Slfn8
|
UTSW |
11 |
83,003,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9457:Slfn8
|
UTSW |
11 |
83,017,706 (GRCm38) |
missense |
probably benign |
|
|
R9678:Slfn8
|
UTSW |
11 |
83,016,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9708:Slfn8
|
UTSW |
11 |
83,003,441 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9764:Slfn8
|
UTSW |
11 |
83,017,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0021:Slfn8
|
UTSW |
11 |
83,016,928 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
Z1177:Slfn8
|
UTSW |
11 |
83,003,533 (GRCm38) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGCATTTCCTTGGCCATC -3'
(R):5'- ACAATATCCAAGGTGCCAGTTTTC -3'
Sequencing Primer
(F):5'- TAATCCTAGTACTTGGGAGCAGTGAC -3'
(R):5'- TTGTTCATCTAAAGACAAGGACAAGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation