Incidental Mutation 'RF038:Sbp'
ID |
604683 |
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 # |
RF038 (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) |
AAGATG to AAGATGCTGACAACACAGATG
at 24164358 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: 98.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TGT |
TGTAGCTGCGGT |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
Abcf1 |
CTCTTC |
CTC |
17: 36,274,093 (GRCm39) |
|
probably benign |
Het |
Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTTCATCCTGGGCTGCT |
4: 155,989,549 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GGC |
GGCAGC |
19: 5,475,254 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GCG |
GCGACG |
19: 5,475,264 (GRCm39) |
|
probably benign |
Het |
Cdx1 |
CTGCTG |
CTGCTGGTGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACACACACACTGCGCAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGAAGGAG |
9: 99,465,750 (GRCm39) |
|
probably benign |
Het |
Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
Dmkn |
GTGGAAGTGGTGG |
GTGGAAGTGGTGGAAGTGGTGGAAGTGTTGGAAGTGGTGG |
7: 30,466,619 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
CTC |
CTCATC |
2: 130,612,664 (GRCm39) |
|
probably null |
Het |
Enah |
TGGCGGCGG |
TGG |
1: 181,749,500 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
ACCCACTCCTGGTGT |
ACCCACTCCTGGTGTGGGGAGGCTACGTACTCCCCCACTCCTGGTGT |
17: 23,981,138 (GRCm39) |
|
probably null |
Het |
Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
Fscb |
CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAAATTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
12: 64,519,343 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
Garin5a |
TGGGTCTGAGGGAGGA |
TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA |
7: 44,149,946 (GRCm39) |
|
probably null |
Het |
Gas1 |
CGAGGA |
CGAGGAGGA |
13: 60,324,342 (GRCm39) |
|
probably benign |
Het |
Gas1 |
AG |
AGATG |
13: 60,324,344 (GRCm39) |
|
probably benign |
Het |
Gm15155 |
CAAAAA |
CAAAAACAAAAAA |
X: 155,128,636 (GRCm39) |
|
probably null |
Het |
Habp4 |
TGAGG |
TG |
13: 64,309,976 (GRCm39) |
|
probably benign |
Het |
Hsdl2 |
CACAGCTGCAG |
CACAGCTGCAGCAGCAGCGACAGCTGCAG |
4: 59,610,648 (GRCm39) |
|
probably benign |
Het |
Il2 |
CTT |
CTTCAAGTGGGGATT |
3: 37,179,970 (GRCm39) |
|
probably null |
Het |
Irag2 |
TG |
TGAGCACATCG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
Ivl |
CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,607 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CA |
CAACCAAA |
1: 83,019,849 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CAGCCACAGCCACCACAGCCACAGCCACCA |
CAGCCACAGCCACCAAAGCCACAGCCACCACAGCCACAGCCACCA |
1: 83,019,978 (GRCm39) |
|
probably benign |
Het |
Lmx1b |
CATCTTGATGCCGTCCAA |
C |
2: 33,530,521 (GRCm39) |
|
probably null |
Het |
Mamld1 |
CAG |
CAGGAG |
X: 70,162,452 (GRCm39) |
|
probably benign |
Het |
Nefh |
CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,027 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
Nefh |
CTCACCTGGGGACTTGGC |
CTCACCTGGGGACTTGGCATCACCTGGGGACTTGGC |
11: 4,891,040 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
Nefh |
TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,018 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,019 (GRCm39) |
|
probably benign |
Het |
Pabpc6 |
AGCTGC |
AGC |
17: 9,887,044 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
TTTTTT |
TTTTTTTTGTTTTT |
15: 44,421,899 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
TGTAGAGCAATGGGGATTC |
TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC |
5: 90,756,783 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
GCAATGGGGATTC |
GCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGATCAATGGGGATTC |
5: 90,756,789 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
CAGGTATTGCGGGACC |
CAGGTATTGCGGGACCTGGTATTGCGGGACCAGGTATTGCGGGACC |
2: 155,938,026 (GRCm39) |
|
probably benign |
Het |
Strn |
CCCAGTC |
CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACGCCAGTC |
17: 78,984,711 (GRCm39) |
|
probably null |
Het |
Supt20 |
TTCAGCA |
TTCAGCATCAGCA |
3: 54,635,068 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TCCCAGAGATCCCC |
TCCCAGAGATCCCCCTGGCTGCTGAGATGGGCACTTCCCCAGAGATCCCC |
18: 60,966,638 (GRCm39) |
|
probably benign |
Het |
Tfeb |
AGC |
AGCGGC |
17: 48,097,030 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCACCA |
17: 48,097,037 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTCCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
CAGCA |
CAGCACCAGAAGCA |
8: 109,682,733 (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 |
|
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 |
|
RF061:Sbp
|
UTSW |
17 |
24,164,351 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGGTTCAGACAAGCATCTAG -3'
(R):5'- TCAGGCTCACATAGATGCAC -3'
Sequencing Primer
(F):5'- GTTCAGACAAGCATCTAGTGACTGTC -3'
(R):5'- GGCATTTGGGCTTTGCTCCC -3'
|
Posted On |
2019-12-04 |