Incidental Mutation 'R5576:Sbp'
| ID |
437236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbp
|
| Ensembl Gene |
ENSMUSG00000024128 |
| Gene Name |
spermine binding protein |
| Synonyms |
p25 |
| MMRRC Submission |
043131-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5576 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24160646-24164581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24164552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 94
(S94T)
|
| 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
|
| 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
AA Change: S94T
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000138338
Gene: ENSMUSG00000024128
AA Change: S94T
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
G |
A |
5: 109,885,570 (GRCm39) |
T96I |
probably benign |
Het |
| Add2 |
G |
T |
6: 86,084,457 (GRCm39) |
|
probably null |
Het |
| Agbl1 |
C |
T |
7: 75,984,985 (GRCm39) |
T134M |
probably benign |
Het |
| Agfg1 |
T |
A |
1: 82,848,445 (GRCm39) |
S32T |
probably benign |
Het |
| Ankrd17 |
A |
C |
5: 90,391,083 (GRCm39) |
S2087A |
probably benign |
Het |
| Apob |
A |
T |
12: 8,048,662 (GRCm39) |
E1012V |
probably damaging |
Het |
| Baiap2 |
T |
A |
11: 119,887,737 (GRCm39) |
V297E |
probably benign |
Het |
| BC034090 |
T |
G |
1: 155,117,214 (GRCm39) |
K301N |
probably benign |
Het |
| Bhlha9 |
T |
C |
11: 76,563,595 (GRCm39) |
I74T |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,069,712 (GRCm39) |
H189R |
probably benign |
Het |
| Ccdc122 |
G |
A |
14: 77,329,317 (GRCm39) |
M123I |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,724,922 (GRCm39) |
|
probably null |
Het |
| Dnaja2 |
A |
T |
8: 86,266,033 (GRCm39) |
L351I |
possibly damaging |
Het |
| Efcab6 |
C |
A |
15: 83,834,201 (GRCm39) |
S469I |
probably benign |
Het |
| Esp15 |
C |
A |
17: 39,953,564 (GRCm39) |
T17K |
probably damaging |
Het |
| Fads1 |
A |
G |
19: 10,163,238 (GRCm39) |
T172A |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 62,985,005 (GRCm39) |
D305E |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,382,602 (GRCm39) |
T541A |
probably benign |
Het |
| Herc3 |
T |
C |
6: 58,865,710 (GRCm39) |
Y768H |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,753,931 (GRCm39) |
V514A |
possibly damaging |
Het |
| Melk |
A |
G |
4: 44,312,255 (GRCm39) |
E141G |
probably null |
Het |
| Nln |
A |
G |
13: 104,195,338 (GRCm39) |
Y245H |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,310,414 (GRCm39) |
R1563H |
probably damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,369 (GRCm39) |
M101L |
probably benign |
Het |
| Or8b44 |
A |
C |
9: 38,410,204 (GRCm39) |
K80Q |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,515,875 (GRCm39) |
S53P |
probably damaging |
Het |
| Pole |
A |
T |
5: 110,459,931 (GRCm39) |
K1112* |
probably null |
Het |
| Ppfia4 |
T |
G |
1: 134,250,788 (GRCm39) |
D184A |
possibly damaging |
Het |
| Rpp30 |
T |
A |
19: 36,079,251 (GRCm39) |
D216E |
probably benign |
Het |
| Sbno2 |
C |
T |
10: 79,903,171 (GRCm39) |
A398T |
probably damaging |
Het |
| Skp1 |
T |
G |
11: 52,133,415 (GRCm39) |
D33E |
possibly damaging |
Het |
| Slc17a8 |
A |
G |
10: 89,433,364 (GRCm39) |
W220R |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,258 (GRCm39) |
M826K |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,822 (GRCm39) |
K322E |
probably benign |
Het |
| Spata32 |
T |
A |
11: 103,100,653 (GRCm39) |
N38I |
possibly damaging |
Het |
| Sycp1 |
T |
C |
3: 102,726,218 (GRCm39) |
R969G |
probably damaging |
Het |
| Trgc2 |
T |
C |
13: 19,489,301 (GRCm39) |
I144V |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,603,377 (GRCm39) |
L385S |
probably damaging |
Het |
| Vmn2r105 |
C |
T |
17: 20,444,836 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
T |
A |
15: 81,906,693 (GRCm39) |
D79E |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,426,744 (GRCm39) |
C2467* |
probably null |
Het |
| Zfp26 |
A |
G |
9: 20,348,803 (GRCm39) |
V587A |
possibly damaging |
Het |
| Zfp553 |
C |
T |
7: 126,835,875 (GRCm39) |
R477C |
possibly damaging |
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 |
|
|
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'- GGCTGACAACAAAGATGCTG -3'
(R):5'- CTCATTCTGGGGATCTTGGTCC -3'
Sequencing Primer
(F):5'- TGCTGACAACAAAGATGCTGAC -3'
(R):5'- CATTCTGGGGATCTTGGTCCTACTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation