Incidental Mutation 'RF044:Sbp'
ID |
604976 |
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 # |
RF044 (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) |
A to AAAAAGATGATGACAC
at 24164340 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: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TG |
TGTGGCTGCCG |
1: 82,891,310 (GRCm39) |
|
probably benign |
Het |
Blm |
CTCC |
CTCCTCCTCCTCATCC |
7: 80,162,678 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
GAG |
GAGTAG |
X: 7,486,296 (GRCm39) |
|
probably null |
Het |
Ccdc85c |
GCC |
GCCACC |
12: 108,240,871 (GRCm39) |
|
probably benign |
Het |
Chga |
AGC |
AGCGGC |
12: 102,527,655 (GRCm39) |
|
probably benign |
Het |
Crtam |
TTCTTGATCTGAA |
T |
9: 40,895,650 (GRCm39) |
|
probably null |
Het |
Dspp |
TGACAGCAGCGACAGCAG |
TGACAGCAGCGACAGCAGAGACAGCAGCGACAGCAG |
5: 104,326,290 (GRCm39) |
|
probably benign |
Het |
Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,602,079 (GRCm39) |
|
probably benign |
Het |
F830016B08Rik |
AAAAAA |
AAAAAAAAA |
18: 60,433,010 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TCT |
TCTCCT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
Gabre |
CTC |
CTCCGGATC |
X: 71,313,667 (GRCm39) |
|
probably benign |
Het |
Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
Haus4 |
AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG |
AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG |
14: 54,781,577 (GRCm39) |
|
probably null |
Het |
Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
Irag2 |
TG |
TGAGCACATCG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CCACAG |
CCACAGACACAG |
1: 83,019,852 (GRCm39) |
|
probably benign |
Het |
Maml2 |
ACAGCAGCAGCAACAGCAGCAGCAGCAGCA |
ACAGCAACAGCAGCAGCAGCAGCA |
9: 13,532,752 (GRCm39) |
|
probably benign |
Het |
Map1a |
CAGCTCCAGCTCCAGCTCCAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAAGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,774 (GRCm39) |
|
probably benign |
Het |
Mapk6 |
CCAC |
CCACCTCAC |
9: 75,295,542 (GRCm39) |
|
probably null |
Het |
Morn4 |
GTGAG |
GTGAGTCAAGCATTGAG |
19: 42,064,553 (GRCm39) |
|
probably null |
Het |
Nefh |
CCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG |
11: 4,891,021 (GRCm39) |
|
probably benign |
Het |
Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
Nefh |
TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,023 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
CAGCAGC |
CAGCAGCAGAAGCAGC |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
Or10n7-ps1 |
AAAATA |
AAAATAAATA |
9: 39,598,043 (GRCm39) |
|
probably null |
Het |
Phc1 |
TG |
TGCTGCGG |
6: 122,300,559 (GRCm39) |
|
probably benign |
Het |
Pla2g4e |
AGGG |
A |
2: 120,075,205 (GRCm39) |
|
probably benign |
Het |
Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
Ptdss1 |
G |
T |
13: 67,093,412 (GRCm39) |
S84I |
possibly damaging |
Het |
Ren1 |
ACCGC |
AC |
1: 133,278,519 (GRCm39) |
|
probably benign |
Het |
Rinl |
G |
T |
7: 28,496,988 (GRCm39) |
G496V |
probably damaging |
Het |
Ryr3 |
CTGA |
C |
2: 112,740,869 (GRCm39) |
|
probably benign |
Het |
Slc39a4 |
GTC |
GTCATCATGATCACCATGGTCACCATGATCACTGTGTTC |
15: 76,499,070 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
TCTCGC |
TCTCGCGCTCGC |
4: 34,049,846 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
TCGC |
TCGCTCGCGC |
4: 34,049,854 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
ATCCTCCCCAGTCCCGCAAGGCCAG |
ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,252 (GRCm39) |
|
probably benign |
Het |
Strn |
C |
CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTA |
17: 78,984,717 (GRCm39) |
|
probably null |
Het |
Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
Tob1 |
GCA |
GCAACA |
11: 94,105,287 (GRCm39) |
|
probably benign |
Het |
Zfp683 |
TGTGG |
TGTGGTGG |
4: 133,786,185 (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 |
|
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'- TTCAGTGACACTGGAGGTTC -3'
(R):5'- AGGCTCACATAGATGCACATAG -3'
Sequencing Primer
(F):5'- GTTCAGACAAGCATCTAGTGACTGTC -3'
(R):5'- GGCATTTGGGCTTTGCTCCC -3'
|
Posted On |
2019-12-04 |