Incidental Mutation 'R1083:Sbp'
ID |
84935 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbp
|
Ensembl Gene |
ENSMUSG00000024128 |
Gene Name |
spermine binding protein |
Synonyms |
p25 |
MMRRC Submission |
039169-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R1083 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24160646-24164581 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 24161704 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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
T |
C |
6: 92,805,046 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
G |
A |
7: 66,797,322 (GRCm39) |
C986Y |
probably damaging |
Het |
AI987944 |
A |
G |
7: 41,024,763 (GRCm39) |
V75A |
probably benign |
Het |
Arhgap10 |
T |
C |
8: 78,244,378 (GRCm39) |
Y12C |
probably damaging |
Het |
Atp11b |
G |
A |
3: 35,832,162 (GRCm39) |
|
probably benign |
Het |
Ccer1 |
T |
A |
10: 97,530,520 (GRCm39) |
D394E |
possibly damaging |
Het |
Cdh2 |
T |
C |
18: 16,777,016 (GRCm39) |
N273S |
possibly damaging |
Het |
Cfap65 |
G |
T |
1: 74,957,663 (GRCm39) |
|
probably benign |
Het |
Crybb3 |
A |
T |
5: 113,228,444 (GRCm39) |
|
probably benign |
Het |
D7Ertd443e |
G |
A |
7: 133,950,663 (GRCm39) |
Q337* |
probably null |
Het |
Dixdc1 |
C |
T |
9: 50,588,293 (GRCm39) |
|
probably benign |
Het |
Dut |
GCGGC |
GCGGCCGGC |
2: 125,089,748 (GRCm39) |
|
probably null |
Het |
Fbxo2 |
A |
G |
4: 148,250,234 (GRCm39) |
|
probably null |
Het |
Gm5174 |
T |
C |
10: 86,491,972 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
A |
G |
19: 55,076,643 (GRCm39) |
|
probably benign |
Het |
Il12a |
C |
T |
3: 68,602,666 (GRCm39) |
T112M |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,487,657 (GRCm39) |
V2361D |
possibly damaging |
Het |
Jag1 |
G |
A |
2: 136,938,152 (GRCm39) |
L283F |
probably damaging |
Het |
Lamb2 |
A |
C |
9: 108,360,892 (GRCm39) |
D538A |
probably benign |
Het |
Map10 |
T |
A |
8: 126,397,178 (GRCm39) |
C190* |
probably null |
Het |
Pcnx2 |
C |
T |
8: 126,498,843 (GRCm39) |
R1552H |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,156,244 (GRCm39) |
|
probably benign |
Het |
Pitx2 |
A |
G |
3: 129,012,418 (GRCm39) |
T276A |
probably damaging |
Het |
Pparg |
A |
G |
6: 115,467,107 (GRCm39) |
D490G |
probably damaging |
Het |
Rnf10 |
A |
T |
5: 115,398,163 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,900,841 (GRCm39) |
L942H |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Sfmbt1 |
A |
T |
14: 30,509,498 (GRCm39) |
N326Y |
possibly damaging |
Het |
Slx4 |
G |
A |
16: 3,808,774 (GRCm39) |
Q389* |
probably null |
Het |
Srrm3 |
T |
A |
5: 135,883,263 (GRCm39) |
V206E |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,447,933 (GRCm39) |
D2270E |
possibly damaging |
Het |
Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
Vmn1r14 |
T |
A |
6: 57,211,184 (GRCm39) |
I210N |
probably damaging |
Het |
Wasf3 |
T |
G |
5: 146,372,182 (GRCm39) |
L13R |
probably damaging |
Het |
Yes1 |
T |
C |
5: 32,809,101 (GRCm39) |
|
probably null |
Het |
Zfp292 |
T |
C |
4: 34,807,569 (GRCm39) |
D1830G |
probably damaging |
Het |
Zfp541 |
A |
G |
7: 15,812,637 (GRCm39) |
N430S |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGGTCCTGAACACTCTCCTAATGC -3'
(R):5'- GGGACTCTTCAAGCCTCTGTGATTC -3'
Sequencing Primer
(F):5'- GAACACTCTCCTAATGCTTCAC -3'
(R):5'- CTTTCTGAACAAGAAAGTTGGAGGTC -3'
|
Posted On |
2013-11-18 |