Incidental Mutation 'RF061:Sbp'
| ID |
605421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbp
|
| Ensembl Gene |
ENSMUSG00000024128 |
| Gene Name |
spermine binding protein |
| Synonyms |
p25 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
RF061 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24160646-24164581 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (5 aa in frame mutation) |
| DNA Base Change (assembly) |
GACAACA to GACAACACAGATGCTAACAACA
at 24164351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024940]
[ENSMUST00000181985]
[ENSMUST00000182519]
[ENSMUST00000182868]
[ENSMUST00000183017]
[ENSMUST00000183155]
[ENSMUST00000183252]
|
| AlphaFold |
P15501 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024940
|
| SMART Domains |
Protein: ENSMUSP00000024940
Gene: ENSMUSG00000024128
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Jacalin
|
26 |
151 |
2.32e-15 |
SMART |
|
low complexity region
|
161 |
198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181985
|
| SMART Domains |
Protein: ENSMUSP00000138422
Gene: ENSMUSG00000024128
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Jacalin
|
26 |
151 |
2.32e-15 |
SMART |
|
low complexity region
|
161 |
198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182519
|
| SMART Domains |
Protein: ENSMUSP00000138338
Gene: ENSMUSG00000024128
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Blast:Jacalin
|
26 |
87 |
3e-38 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182868
|
| SMART Domains |
Protein: ENSMUSP00000138491
Gene: ENSMUSG00000024128
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
44 |
N/A |
INTRINSIC |
|
Jacalin
|
53 |
178 |
2.32e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183017
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183155
|
| SMART Domains |
Protein: ENSMUSP00000138341
Gene: ENSMUSG00000024128
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Jacalin
|
26 |
151 |
2.32e-15 |
SMART |
|
low complexity region
|
161 |
198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183252
|
| SMART Domains |
Protein: ENSMUSP00000138219
Gene: ENSMUSG00000024128
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Jacalin
|
26 |
151 |
2.32e-15 |
SMART |
|
low complexity region
|
161 |
198 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
ACTT |
ACTTACTT |
8: 125,566,570 (GRCm39) |
|
probably null |
Het |
| Abi3bp |
GCCCACGACCC |
GCCCACGACCCACGACCC |
16: 56,447,950 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCCGCGGC |
18: 36,693,974 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
GAGGC |
GAGGCGGAGGCATAGGC |
10: 81,479,401 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
A |
ACCTCCAC |
2: 153,799,048 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,672 (GRCm39) |
|
probably benign |
Het |
| Chga |
G |
GCAC |
12: 102,527,686 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACTGCCCAGGGA |
ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA |
9: 86,922,488 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CAGTTCCTACCTCGTT |
CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT |
9: 20,821,426 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
GTGCTGGTGCGT |
GTGCTGGTGCGTCTGCTGGTGCGT |
5: 110,525,997 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTCCG |
GCTCCGACTCCG |
X: 71,313,654 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
AG |
AGCAGCAGCCACAGCTGCTG |
4: 59,610,657 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GGG |
GGGGCTTGAAGTGGG |
3: 37,179,990 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACCACAGC |
CCACCACAGCCACAGACACCACAGC |
1: 83,020,002 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
GCTGGTGGT |
G |
14: 75,184,995 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
GGTGGTGTTG |
GG |
14: 75,185,007 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,456 (GRCm39) |
|
probably benign |
Het |
| Map1a |
TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC |
TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
GA |
GATATA |
9: 39,598,049 (GRCm39) |
|
probably null |
Het |
| Pdcd11 |
AGGAGGAGG |
AG |
19: 47,101,884 (GRCm39) |
|
probably null |
Het |
| Pknox2 |
ACACACACACACACACTCAC |
ACAC |
9: 36,820,905 (GRCm39) |
|
probably benign |
Het |
| Rfx5 |
A |
T |
3: 94,863,070 (GRCm39) |
K54I |
probably damaging |
Het |
| Rps19 |
AAAAAAT |
AAAAAATAAAAAT |
7: 24,588,605 (GRCm39) |
|
probably benign |
Het |
| Rragd |
CATGCCTTTCATTCTA |
C |
4: 32,995,150 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
CTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
10: 86,702,622 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGGAG |
17: 48,097,017 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
GGCCCCCGC |
GGC |
3: 103,187,533 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
ACAACCAC |
ACAACCACAACCAC |
17: 24,899,744 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Sbp
|
APN |
17 |
24,164,322 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02035:Sbp
|
APN |
17 |
24,161,586 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
FR4449:Sbp
|
UTSW |
17 |
24,164,338 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Sbp
|
UTSW |
17 |
24,164,363 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Sbp
|
UTSW |
17 |
24,164,356 (GRCm39) |
small insertion |
probably benign |
|
|
R0457:Sbp
|
UTSW |
17 |
24,164,286 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1083:Sbp
|
UTSW |
17 |
24,161,704 (GRCm39) |
splice site |
probably benign |
|
|
R1544:Sbp
|
UTSW |
17 |
24,164,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2075:Sbp
|
UTSW |
17 |
24,164,132 (GRCm39) |
splice site |
probably null |
|
|
R3741:Sbp
|
UTSW |
17 |
24,164,556 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4513:Sbp
|
UTSW |
17 |
24,164,286 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4774:Sbp
|
UTSW |
17 |
24,164,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5338:Sbp
|
UTSW |
17 |
24,161,396 (GRCm39) |
start gained |
probably benign |
|
|
R5576:Sbp
|
UTSW |
17 |
24,164,552 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7315:Sbp
|
UTSW |
17 |
24,164,280 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7894:Sbp
|
UTSW |
17 |
24,161,163 (GRCm39) |
intron |
probably benign |
|
|
R9651:Sbp
|
UTSW |
17 |
24,164,419 (GRCm39) |
makesense |
probably null |
|
|
RF003:Sbp
|
UTSW |
17 |
24,164,343 (GRCm39) |
small insertion |
probably benign |
|
|
RF010:Sbp
|
UTSW |
17 |
24,164,325 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:Sbp
|
UTSW |
17 |
24,164,328 (GRCm39) |
small insertion |
probably benign |
|
|
RF024:Sbp
|
UTSW |
17 |
24,164,361 (GRCm39) |
small insertion |
probably benign |
|
|
RF037:Sbp
|
UTSW |
17 |
24,164,361 (GRCm39) |
small insertion |
probably benign |
|
|
RF037:Sbp
|
UTSW |
17 |
24,164,358 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Sbp
|
UTSW |
17 |
24,164,358 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Sbp
|
UTSW |
17 |
24,164,358 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Sbp
|
UTSW |
17 |
24,164,340 (GRCm39) |
small insertion |
probably benign |
|
|
RF048:Sbp
|
UTSW |
17 |
24,164,363 (GRCm39) |
small insertion |
probably benign |
|
|
RF054:Sbp
|
UTSW |
17 |
24,164,345 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Sbp
|
UTSW |
17 |
24,164,340 (GRCm39) |
small insertion |
probably benign |
|
|
RF059:Sbp
|
UTSW |
17 |
24,164,351 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGGTTCAGACAAGCATC -3'
(R):5'- TCAGGCTCACATAGATGCAC -3'
Sequencing Primer
(F):5'- GTTCAGACAAGCATCTAGTGACTGTC -3'
(R):5'- GGCATTTGGGCTTTGCTCCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation