Incidental Mutation 'R8264:Slfn5'
| ID |
639739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn5
|
| Ensembl Gene |
ENSMUSG00000054404 |
| Gene Name |
schlafen 5 |
| Synonyms |
|
| MMRRC Submission |
067689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R8264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82842175-82855666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 82847376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 87
(D87V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067443]
[ENSMUST00000108157]
[ENSMUST00000108158]
|
| AlphaFold |
Q8CBA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067443
AA Change: D87V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064819
Gene: ENSMUSG00000054404
AA Change: D87V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AlbA_2
|
187 |
319 |
4.7e-13 |
PFAM |
|
low complexity region
|
537 |
547 |
N/A |
INTRINSIC |
|
Pfam:DUF2075
|
567 |
743 |
4.7e-8 |
PFAM |
|
transmembrane domain
|
848 |
870 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108157
AA Change: D87V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103792
Gene: ENSMUSG00000054404
AA Change: D87V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
187 |
320 |
1.9e-15 |
PFAM |
|
low complexity region
|
537 |
547 |
N/A |
INTRINSIC |
|
Pfam:DUF2075
|
567 |
739 |
9.4e-9 |
PFAM |
|
transmembrane domain
|
848 |
870 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108158
AA Change: D87V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103793
Gene: ENSMUSG00000054404
AA Change: D87V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_4
|
187 |
320 |
3.4e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,773,543 (GRCm39) |
C911S |
probably damaging |
Het |
| Abcc4 |
T |
A |
14: 118,832,254 (GRCm39) |
N792I |
possibly damaging |
Het |
| Acacb |
A |
T |
5: 114,345,427 (GRCm39) |
H960L |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,092,873 (GRCm39) |
T162A |
possibly damaging |
Het |
| Cacna1g |
T |
C |
11: 94,364,392 (GRCm39) |
S18G |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,300,300 (GRCm39) |
I348N |
possibly damaging |
Het |
| Cntln |
G |
A |
4: 85,016,648 (GRCm39) |
R12Q |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,795,971 (GRCm39) |
S136P |
possibly damaging |
Het |
| Dnah14 |
T |
A |
1: 181,572,357 (GRCm39) |
M2896K |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,148,755 (GRCm39) |
T215A |
probably damaging |
Het |
| Esyt2 |
A |
C |
12: 116,329,540 (GRCm39) |
Q699H |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,979,393 (GRCm39) |
T204A |
possibly damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,362,339 (GRCm39) |
S294P |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Galnt10 |
A |
G |
11: 57,673,032 (GRCm39) |
I463V |
probably benign |
Het |
| Glce |
A |
G |
9: 61,967,712 (GRCm39) |
F480L |
probably benign |
Het |
| H2-Aa |
A |
G |
17: 34,506,709 (GRCm39) |
V11A |
probably benign |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,593 (GRCm39) |
T191A |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,323,086 (GRCm39) |
|
silent |
Het |
| Izumo4 |
G |
T |
10: 80,538,572 (GRCm39) |
G8V |
|
Het |
| Klk1b5 |
T |
A |
7: 43,869,454 (GRCm39) |
L178H |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,343,218 (GRCm39) |
N85D |
probably benign |
Het |
| Liph |
A |
C |
16: 21,802,721 (GRCm39) |
I116R |
possibly damaging |
Het |
| Lpar5 |
T |
A |
6: 125,058,465 (GRCm39) |
V62D |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,528 (GRCm39) |
I303F |
|
Het |
| Mymk |
A |
G |
2: 26,957,868 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
G |
A |
15: 25,800,195 (GRCm39) |
V1424M |
probably damaging |
Het |
| Myof |
T |
G |
19: 37,909,881 (GRCm39) |
Q1528P |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 27,006,038 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,884,738 (GRCm39) |
Y500N |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,538 (GRCm39) |
D180G |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,682,543 (GRCm39) |
Y835C |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,711,030 (GRCm39) |
E95G |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,870,138 (GRCm39) |
N303K |
possibly damaging |
Het |
| Pnn |
C |
T |
12: 59,119,363 (GRCm39) |
H649Y |
unknown |
Het |
| Rab11fip1 |
G |
A |
8: 27,642,508 (GRCm39) |
Q764* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,175,370 (GRCm39) |
M1762K |
possibly damaging |
Het |
| Rif1 |
G |
A |
2: 51,980,290 (GRCm39) |
A496T |
noncoding transcript |
Het |
| Rnase13 |
A |
T |
14: 52,159,914 (GRCm39) |
V75D |
probably damaging |
Het |
| Sema3c |
G |
A |
5: 17,881,537 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
C |
G |
1: 36,591,966 (GRCm39) |
G266R |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,290 (GRCm39) |
Y421C |
probably damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,271,867 (GRCm39) |
V188A |
probably benign |
Het |
| Srms |
A |
G |
2: 180,854,343 (GRCm39) |
Y75H |
probably benign |
Het |
| Tent2 |
C |
T |
13: 93,312,077 (GRCm39) |
G208S |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,072,390 (GRCm39) |
S2646P |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,042,330 (GRCm39) |
I1130V |
probably benign |
Het |
| Ttf1 |
A |
G |
2: 28,954,689 (GRCm39) |
K18E |
possibly damaging |
Het |
| Unc5b |
G |
T |
10: 60,604,113 (GRCm39) |
T827K |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,302,969 (GRCm39) |
T1672S |
possibly damaging |
Het |
|
| Other mutations in Slfn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Slfn5
|
APN |
11 |
82,847,807 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01773:Slfn5
|
APN |
11 |
82,852,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03026:Slfn5
|
APN |
11 |
82,847,387 (GRCm39) |
missense |
probably benign |
|
|
IGL03368:Slfn5
|
APN |
11 |
82,847,211 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0531:Slfn5
|
UTSW |
11 |
82,851,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0690:Slfn5
|
UTSW |
11 |
82,852,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0939:Slfn5
|
UTSW |
11 |
82,852,164 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1005:Slfn5
|
UTSW |
11 |
82,850,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1214:Slfn5
|
UTSW |
11 |
82,850,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1978:Slfn5
|
UTSW |
11 |
82,847,442 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4092:Slfn5
|
UTSW |
11 |
82,851,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Slfn5
|
UTSW |
11 |
82,852,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Slfn5
|
UTSW |
11 |
82,847,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5113:Slfn5
|
UTSW |
11 |
82,852,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5120:Slfn5
|
UTSW |
11 |
82,851,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Slfn5
|
UTSW |
11 |
82,847,496 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5307:Slfn5
|
UTSW |
11 |
82,847,211 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5451:Slfn5
|
UTSW |
11 |
82,850,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Slfn5
|
UTSW |
11 |
82,847,973 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5651:Slfn5
|
UTSW |
11 |
82,851,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5777:Slfn5
|
UTSW |
11 |
82,851,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5906:Slfn5
|
UTSW |
11 |
82,848,102 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5934:Slfn5
|
UTSW |
11 |
82,847,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6521:Slfn5
|
UTSW |
11 |
82,851,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6543:Slfn5
|
UTSW |
11 |
82,849,492 (GRCm39) |
splice site |
probably null |
|
|
R6681:Slfn5
|
UTSW |
11 |
82,847,204 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7129:Slfn5
|
UTSW |
11 |
82,851,976 (GRCm39) |
nonsense |
probably null |
|
|
R7309:Slfn5
|
UTSW |
11 |
82,847,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Slfn5
|
UTSW |
11 |
82,851,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Slfn5
|
UTSW |
11 |
82,849,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7610:Slfn5
|
UTSW |
11 |
82,852,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Slfn5
|
UTSW |
11 |
82,851,278 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7957:Slfn5
|
UTSW |
11 |
82,847,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8205:Slfn5
|
UTSW |
11 |
82,851,544 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8982:Slfn5
|
UTSW |
11 |
82,850,966 (GRCm39) |
nonsense |
probably null |
|
|
R9130:Slfn5
|
UTSW |
11 |
82,851,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Slfn5
|
UTSW |
11 |
82,851,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9209:Slfn5
|
UTSW |
11 |
82,850,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9454:Slfn5
|
UTSW |
11 |
82,850,885 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9534:Slfn5
|
UTSW |
11 |
82,849,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9565:Slfn5
|
UTSW |
11 |
82,847,699 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9608:Slfn5
|
UTSW |
11 |
82,852,321 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9608:Slfn5
|
UTSW |
11 |
82,851,830 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9686:Slfn5
|
UTSW |
11 |
82,848,001 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAATGGATACCACACACTGCATG -3'
(R):5'- GCGTCATCTACAGGAGCTTC -3'
Sequencing Primer
(F):5'- TGAAACAGAACGAAATCATCTCG -3'
(R):5'- ATTTAGCGAGTCAGAGTCACC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation