Incidental Mutation 'IGL02035:Sbp'
| ID |
184478 |
| 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 # |
IGL02035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24160646-24164581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24161586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 19
(N19S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024940]
[ENSMUST00000181985]
[ENSMUST00000182519]
[ENSMUST00000182868]
[ENSMUST00000183017]
[ENSMUST00000183155]
[ENSMUST00000183252]
|
| AlphaFold |
P15501 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024940
AA Change: N19S
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000024940
Gene: ENSMUSG00000024128
AA Change: N19S
| 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
AA Change: N19S
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138422
Gene: ENSMUSG00000024128
AA Change: N19S
| 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 |
possibly damaging
Transcript: ENSMUST00000182519
AA Change: N19S
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138338
Gene: ENSMUSG00000024128
AA Change: N19S
| 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
AA Change: N46S
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138491
Gene: ENSMUSG00000024128
AA Change: N46S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
44 |
N/A |
INTRINSIC |
|
Jacalin
|
53 |
178 |
2.32e-15 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183017
AA Change: N19S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183155
AA Change: N19S
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138341
Gene: ENSMUSG00000024128
AA Change: N19S
| 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
AA Change: N19S
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138219
Gene: ENSMUSG00000024128
AA Change: N19S
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
T |
1: 179,593,579 (GRCm39) |
I1135N |
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,007,318 (GRCm39) |
|
probably benign |
Het |
| Atr |
A |
G |
9: 95,748,735 (GRCm39) |
N427D |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,375 (GRCm39) |
|
probably null |
Het |
| Cnot4 |
A |
T |
6: 35,047,186 (GRCm39) |
V142D |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,425 (GRCm39) |
V265E |
probably damaging |
Het |
| Ddx27 |
G |
T |
2: 166,871,432 (GRCm39) |
V510F |
probably benign |
Het |
| Elac2 |
A |
G |
11: 64,892,661 (GRCm39) |
S822G |
probably benign |
Het |
| Fat3 |
A |
T |
9: 16,289,266 (GRCm39) |
F86I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,177,282 (GRCm39) |
|
probably null |
Het |
| Fgd4 |
C |
T |
16: 16,308,280 (GRCm39) |
|
probably benign |
Het |
| Furin |
T |
C |
7: 80,040,735 (GRCm39) |
E701G |
probably benign |
Het |
| Fzd2 |
A |
G |
11: 102,497,270 (GRCm39) |
*571W |
probably null |
Het |
| Gm9 |
A |
T |
X: 36,474,544 (GRCm39) |
H3Q |
probably benign |
Het |
| Jak2 |
T |
C |
19: 29,263,808 (GRCm39) |
V441A |
probably benign |
Het |
| Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,305,365 (GRCm39) |
E147G |
probably damaging |
Het |
| Magt1 |
G |
T |
X: 105,027,382 (GRCm39) |
|
probably null |
Het |
| Nkx6-2 |
A |
T |
7: 139,161,601 (GRCm39) |
W195R |
probably damaging |
Het |
| Nt5c1a |
A |
T |
4: 123,107,895 (GRCm39) |
S193C |
possibly damaging |
Het |
| Or6c216 |
A |
G |
10: 129,678,659 (GRCm39) |
L84P |
possibly damaging |
Het |
| Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
| Pecam1 |
C |
T |
11: 106,586,685 (GRCm39) |
A277T |
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,557,085 (GRCm39) |
V66A |
possibly damaging |
Het |
| Proser1 |
T |
C |
3: 53,386,251 (GRCm39) |
V711A |
probably benign |
Het |
| Prr35 |
G |
T |
17: 26,166,136 (GRCm39) |
H384N |
probably benign |
Het |
| Sh3bp4 |
A |
G |
1: 89,071,412 (GRCm39) |
T87A |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,208 (GRCm39) |
I184N |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,354 (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 |
|
|
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 |
2014-05-07 |
Incidental Mutation