Incidental Mutation 'IGL01431:Sbp'
| ID |
84129 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01431
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24160646-24164581 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to T
at 24164322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024940]
[ENSMUST00000181985]
[ENSMUST00000182519]
[ENSMUST00000182868]
[ENSMUST00000183017]
[ENSMUST00000183155]
[ENSMUST00000183252]
|
| AlphaFold |
P15501 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000024940
AA Change: D168V
|
| SMART Domains |
Protein: ENSMUSP00000024940
Gene: ENSMUSG00000024128
AA Change: D168V
| 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 |
unknown
Transcript: ENSMUST00000181985
AA Change: D168V
|
| SMART Domains |
Protein: ENSMUSP00000138422
Gene: ENSMUSG00000024128
AA Change: D168V
| 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 |
silent
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 |
unknown
Transcript: ENSMUST00000183155
AA Change: D168V
|
| SMART Domains |
Protein: ENSMUSP00000138341
Gene: ENSMUSG00000024128
AA Change: D168V
| 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 |
unknown
Transcript: ENSMUST00000183252
AA Change: D168V
|
| SMART Domains |
Protein: ENSMUSP00000138219
Gene: ENSMUSG00000024128
AA Change: D168V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,089,838 (GRCm39) |
I897T |
possibly damaging |
Het |
| Aqp2 |
G |
A |
15: 99,477,301 (GRCm39) |
V90M |
possibly damaging |
Het |
| Atf6 |
T |
C |
1: 170,680,571 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,274,301 (GRCm39) |
Y607H |
probably damaging |
Het |
| Cer1 |
T |
A |
4: 82,801,068 (GRCm39) |
E198D |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,453,278 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
C |
T |
1: 87,079,226 (GRCm39) |
R484H |
probably damaging |
Het |
| Entpd7 |
C |
A |
19: 43,718,278 (GRCm39) |
H575Q |
probably benign |
Het |
| F11r |
T |
C |
1: 171,290,477 (GRCm39) |
V279A |
probably damaging |
Het |
| Gm17093 |
T |
A |
14: 44,759,122 (GRCm39) |
|
probably benign |
Het |
| Got1 |
T |
A |
19: 43,491,488 (GRCm39) |
K321* |
probably null |
Het |
| Gpn1 |
T |
C |
5: 31,664,882 (GRCm39) |
V302A |
probably benign |
Het |
| Hivep1 |
G |
T |
13: 42,311,493 (GRCm39) |
K1244N |
probably damaging |
Het |
| Idh3b |
T |
C |
2: 130,123,817 (GRCm39) |
T116A |
possibly damaging |
Het |
| Itgb4 |
C |
A |
11: 115,897,283 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
G |
T |
1: 9,742,872 (GRCm39) |
L579I |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,263,782 (GRCm39) |
T1694S |
probably null |
Het |
| Mylk3 |
T |
C |
8: 86,063,030 (GRCm39) |
D537G |
probably damaging |
Het |
| Myo1d |
A |
C |
11: 80,565,665 (GRCm39) |
F387V |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,361,361 (GRCm39) |
Y448C |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,508 (GRCm39) |
H191Q |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,832,804 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
A |
T |
2: 111,055,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
T |
A |
1: 75,121,749 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
G |
A |
16: 94,129,402 (GRCm39) |
C16Y |
possibly damaging |
Het |
| Robo3 |
G |
A |
9: 37,330,407 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
C |
A |
7: 102,106,759 (GRCm39) |
|
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,498,666 (GRCm39) |
R269S |
probably benign |
Het |
| Schip1 |
A |
T |
3: 68,525,110 (GRCm39) |
Q162L |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,980,144 (GRCm39) |
Y67C |
probably damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,309,103 (GRCm39) |
R233K |
probably damaging |
Het |
| Smoc1 |
C |
A |
12: 81,199,525 (GRCm39) |
S220* |
probably null |
Het |
| Stab1 |
C |
A |
14: 30,870,952 (GRCm39) |
R1299I |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,805,074 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
T |
G |
7: 118,151,985 (GRCm39) |
D312A |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,327 (GRCm39) |
S70P |
possibly damaging |
Het |
| Zfc3h1 |
C |
A |
10: 115,259,128 (GRCm39) |
T1591K |
possibly damaging |
Het |
|
| Other mutations in Sbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
RF061:Sbp
|
UTSW |
17 |
24,164,351 (GRCm39) |
small insertion |
probably benign |
|
|
| Posted On |
2013-11-11 |
Incidental Mutation