Incidental Mutation 'R4513:Sbp'
| ID |
334538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbp
|
| Ensembl Gene |
ENSMUSG00000024128 |
| Gene Name |
spermine binding protein |
| Synonyms |
p25 |
| MMRRC Submission |
041759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R4513 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24160646-24164581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24164286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 183
(G183D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138491
(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: G156D
|
| SMART Domains |
Protein: ENSMUSP00000024940
Gene: ENSMUSG00000024128
AA Change: G156D
| 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: G156D
|
| SMART Domains |
Protein: ENSMUSP00000138422
Gene: ENSMUSG00000024128
AA Change: G156D
| 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
AA Change: G183D
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138491
Gene: ENSMUSG00000024128
AA Change: G183D
| 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: G156D
|
| SMART Domains |
Protein: ENSMUSP00000138341
Gene: ENSMUSG00000024128
AA Change: G156D
| 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: G156D
|
| SMART Domains |
Protein: ENSMUSP00000138219
Gene: ENSMUSG00000024128
AA Change: G156D
| 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: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,717,947 (GRCm39) |
I320V |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,842,787 (GRCm39) |
V45A |
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,465,242 (GRCm39) |
S312T |
probably damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cfap96 |
G |
T |
8: 46,421,175 (GRCm39) |
T116K |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,145,943 (GRCm39) |
I966N |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,327,168 (GRCm39) |
S952R |
probably null |
Het |
| Dop1a |
G |
A |
9: 86,402,612 (GRCm39) |
E1271K |
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,880,460 (GRCm39) |
|
probably benign |
Het |
| Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
| Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
| Guf1 |
T |
C |
5: 69,719,005 (GRCm39) |
V230A |
probably benign |
Het |
| Hsd17b14 |
C |
T |
7: 45,212,339 (GRCm39) |
L124F |
probably benign |
Het |
| Id3 |
G |
T |
4: 135,871,669 (GRCm39) |
|
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,361 (GRCm39) |
M782T |
possibly damaging |
Het |
| Lsm12 |
T |
C |
11: 102,057,909 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
A |
13: 99,580,741 (GRCm39) |
D117V |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,752,238 (GRCm39) |
T807A |
probably damaging |
Het |
| Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,854,174 (GRCm39) |
I1257N |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,880,456 (GRCm39) |
Y459H |
probably damaging |
Het |
| Mkln1 |
T |
C |
6: 31,410,093 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
T |
17: 35,249,664 (GRCm39) |
I627N |
possibly damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,637,204 (GRCm39) |
H488R |
probably benign |
Het |
| Nrg1 |
G |
T |
8: 32,967,105 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,782 (GRCm39) |
M82V |
probably benign |
Het |
| Or51q1 |
T |
C |
7: 103,628,648 (GRCm39) |
V89A |
probably benign |
Het |
| Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,986 (GRCm39) |
Y93F |
probably benign |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,107,034 (GRCm39) |
C910S |
probably damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,196 (GRCm39) |
E357G |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,718 (GRCm39) |
M242V |
probably benign |
Het |
| Rbm11 |
T |
C |
16: 75,393,475 (GRCm39) |
F57S |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,599,382 (GRCm39) |
V719A |
unknown |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Slc29a1 |
A |
C |
17: 45,899,992 (GRCm39) |
Y232* |
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| Spanxn4 |
A |
T |
12: 62,734,886 (GRCm39) |
|
noncoding transcript |
Het |
| Spata31d1d |
T |
C |
13: 59,876,368 (GRCm39) |
Q389R |
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,706,231 (GRCm39) |
|
probably null |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Tle2 |
A |
G |
10: 81,423,394 (GRCm39) |
D491G |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,443,468 (GRCm39) |
V215A |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,667,548 (GRCm39) |
T7A |
probably benign |
Het |
| Ube2q2 |
C |
A |
9: 55,057,084 (GRCm39) |
P56T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 102,988,019 (GRCm39) |
V208A |
probably damaging |
Het |
| Xkr7 |
T |
C |
2: 152,896,553 (GRCm39) |
I469T |
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 |
|
|
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'- AGTGATCTGCCTGACTTCCC -3'
(R):5'- CTGGTATATTACTTCCTCCAGTGG -3'
Sequencing Primer
(F):5'- CTGACCTTCACTACAAACAAGGGG -3'
(R):5'- TCCAGTGGGAGAGCTTGGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation