Incidental Mutation 'R8982:Slfn5'
| ID |
683790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slfn5
|
| Ensembl Gene |
ENSMUSG00000054404 |
| Gene Name |
schlafen 5 |
| Synonyms |
|
| MMRRC Submission |
068815-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R8982 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82842175-82855666 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 82850966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 421
(W421*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067443]
[ENSMUST00000108157]
[ENSMUST00000108158]
|
| AlphaFold |
Q8CBA2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067443
AA Change: W421*
|
| SMART Domains |
Protein: ENSMUSP00000064819
Gene: ENSMUSG00000054404
AA Change: W421*
| 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 null
Transcript: ENSMUST00000108157
AA Change: W421*
|
| SMART Domains |
Protein: ENSMUSP00000103792
Gene: ENSMUSG00000054404
AA Change: W421*
| 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 benign
Transcript: ENSMUST00000108158
|
| SMART Domains |
Protein: ENSMUSP00000103793
Gene: ENSMUSG00000054404
| 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: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,677,485 (GRCm39) |
N493S |
probably benign |
Het |
| Actg2 |
T |
C |
6: 83,497,697 (GRCm39) |
D185G |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,748,750 (GRCm39) |
N1439S |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,293,316 (GRCm39) |
S745T |
probably damaging |
Het |
| Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
| C4b |
A |
G |
17: 34,953,338 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
G |
5: 86,195,533 (GRCm39) |
S79P |
probably damaging |
Het |
| Cep295nl |
A |
T |
11: 118,224,671 (GRCm39) |
W58R |
probably damaging |
Het |
| Ces2f |
T |
A |
8: 105,679,667 (GRCm39) |
C387S |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Ckap5 |
T |
C |
2: 91,437,923 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,364,559 (GRCm39) |
V852A |
unknown |
Het |
| Col22a1 |
A |
G |
15: 71,845,487 (GRCm39) |
|
probably null |
Het |
| Copb2 |
T |
C |
9: 98,456,164 (GRCm39) |
S233P |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,536,294 (GRCm39) |
Y684C |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,570,301 (GRCm39) |
E1835G |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,812 (GRCm39) |
Q155L |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,729,895 (GRCm39) |
D36G |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,466,305 (GRCm39) |
V2412A |
probably benign |
Het |
| Hoxa13 |
T |
A |
6: 52,235,916 (GRCm39) |
K210* |
probably null |
Het |
| Hoxc5 |
T |
C |
15: 102,923,740 (GRCm39) |
Y179H |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,146,110 (GRCm39) |
A129T |
probably benign |
Het |
| Htr1d |
A |
T |
4: 136,170,866 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Krt72 |
C |
T |
15: 101,690,059 (GRCm39) |
V253M |
possibly damaging |
Het |
| Mecom |
G |
A |
3: 30,017,255 (GRCm39) |
T470I |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,897,549 (GRCm39) |
A129V |
probably damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,327,978 (GRCm39) |
I692F |
probably damaging |
Het |
| Nr6a1 |
T |
A |
2: 38,762,613 (GRCm39) |
I61L |
probably benign |
Het |
| Or10aa1 |
T |
G |
1: 173,870,188 (GRCm39) |
V224G |
probably damaging |
Het |
| Or10j2 |
G |
A |
1: 173,098,306 (GRCm39) |
C188Y |
probably damaging |
Het |
| Or5d18 |
A |
T |
2: 87,864,613 (GRCm39) |
I290K |
probably damaging |
Het |
| Pck1 |
T |
C |
2: 172,999,112 (GRCm39) |
V426A |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,387,069 (GRCm39) |
L1314* |
probably null |
Het |
| Pogz |
G |
A |
3: 94,786,879 (GRCm39) |
V1156M |
probably damaging |
Het |
| Pramel23 |
T |
G |
4: 143,424,886 (GRCm39) |
I186L |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,102,134 (GRCm39) |
C736S |
probably damaging |
Het |
| Psg18 |
T |
A |
7: 18,083,300 (GRCm39) |
H285L |
probably benign |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,436,138 (GRCm39) |
D833V |
probably damaging |
Het |
| Rfx6 |
G |
A |
10: 51,599,915 (GRCm39) |
V554M |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,027,511 (GRCm39) |
T312A |
probably benign |
Het |
| Srcin1 |
A |
G |
11: 97,426,624 (GRCm39) |
I291T |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,658,069 (GRCm39) |
N15D |
probably damaging |
Het |
| Tmem179 |
A |
T |
12: 112,468,301 (GRCm39) |
L193Q |
probably damaging |
Het |
| Tmem200b |
T |
A |
4: 131,649,668 (GRCm39) |
L196Q |
probably damaging |
Het |
| Trim71 |
T |
C |
9: 114,342,804 (GRCm39) |
T493A |
possibly damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,263,001 (GRCm39) |
|
probably null |
Het |
| Zbtb47 |
A |
G |
9: 121,592,334 (GRCm39) |
E218G |
probably benign |
Het |
| Zbtb7c |
G |
A |
18: 76,279,344 (GRCm39) |
G601S |
probably damaging |
Het |
| Zdhhc3 |
A |
G |
9: 122,929,578 (GRCm39) |
L19P |
probably benign |
Het |
| Zfp385b |
G |
T |
2: 77,242,300 (GRCm39) |
T473K |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,172 (GRCm39) |
K48E |
probably 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 |
|
R8264:Slfn5
|
UTSW |
11 |
82,847,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAGCTTGTCTCTGATTCATTCCGATT -3'
(R):5'- TTTGGTGAGAACCCAGTGG -3'
Sequencing Primer
(F):5'- GATTCTTTCCTTGTCTAGTGTCAC -3'
(R):5'- ATGATGCCTAATCTTCCAGGGTAGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation