Incidental Mutation 'IGL02554:S100pbp'
| ID |
298430 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
S100pbp
|
| Ensembl Gene |
ENSMUSG00000040928 |
| Gene Name |
S100P binding protein |
| Synonyms |
4930429A08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
IGL02554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
129041795-129083485 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 129075644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049081]
[ENSMUST00000072431]
[ENSMUST00000106059]
[ENSMUST00000106061]
[ENSMUST00000117350]
[ENSMUST00000117497]
[ENSMUST00000117965]
|
| AlphaFold |
Q9D5K4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049081
AA Change: V227E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039820
Gene: ENSMUSG00000040928
AA Change: V227E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S100PBPR
|
21 |
382 |
4.4e-194 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000072431
|
| SMART Domains |
Protein: ENSMUSP00000072258
Gene: ENSMUSG00000040928
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S100PBPR
|
21 |
108 |
1.6e-36 |
PFAM |
|
Pfam:S100PBPR
|
107 |
162 |
2.1e-17 |
PFAM |
|
Pfam:S100PBPR
|
153 |
304 |
6.6e-87 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106059
|
| SMART Domains |
Protein: ENSMUSP00000101674
Gene: ENSMUSG00000040928
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S100PBPR
|
21 |
67 |
1.2e-23 |
PFAM |
|
Pfam:S100PBPR
|
66 |
121 |
1.1e-17 |
PFAM |
|
Pfam:S100PBPR
|
112 |
263 |
4.9e-87 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106061
AA Change: V227E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101676
Gene: ENSMUSG00000040928
AA Change: V227E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S100PBPR
|
21 |
382 |
8.5e-193 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117350
AA Change: V227E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113214
Gene: ENSMUSG00000040928
AA Change: V227E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S100PBPR
|
21 |
337 |
1.4e-147 |
PFAM |
|
low complexity region
|
353 |
366 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117497
|
| SMART Domains |
Protein: ENSMUSP00000113084
Gene: ENSMUSG00000040928
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S100PBPR
|
21 |
198 |
2.4e-83 |
PFAM |
|
Pfam:S100PBPR
|
189 |
327 |
1.1e-77 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117965
|
| SMART Domains |
Protein: ENSMUSP00000113920
Gene: ENSMUSG00000040928
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S100PBPR
|
21 |
198 |
2.4e-83 |
PFAM |
|
Pfam:S100PBPR
|
189 |
327 |
1.1e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148112
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
A |
11: 48,838,830 (GRCm39) |
M586L |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,117,318 (GRCm39) |
D204G |
possibly damaging |
Het |
| Acox3 |
C |
A |
5: 35,765,710 (GRCm39) |
L588I |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,857,828 (GRCm39) |
L849I |
probably benign |
Het |
| Alkbh3 |
T |
G |
2: 93,826,692 (GRCm39) |
T170P |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 90,757,240 (GRCm39) |
H300L |
probably damaging |
Het |
| Arhgap29 |
T |
C |
3: 121,786,173 (GRCm39) |
|
probably benign |
Het |
| Brd8dc |
A |
G |
18: 34,726,068 (GRCm39) |
S112P |
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,438,847 (GRCm39) |
G181D |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,096 (GRCm39) |
H305Q |
possibly damaging |
Het |
| Cimip4 |
A |
G |
15: 78,262,736 (GRCm39) |
M245T |
possibly damaging |
Het |
| Clptm1l |
A |
T |
13: 73,755,879 (GRCm39) |
D165V |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,159,704 (GRCm39) |
Y61H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,657,205 (GRCm39) |
M857K |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,407 (GRCm39) |
M836V |
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,180,314 (GRCm39) |
A755S |
possibly damaging |
Het |
| Helb |
G |
A |
10: 119,925,617 (GRCm39) |
T920M |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,797,306 (GRCm39) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,994 (GRCm39) |
S152P |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,646,327 (GRCm39) |
Y784C |
probably damaging |
Het |
| Ldah |
T |
A |
12: 8,333,935 (GRCm39) |
C275* |
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,738,707 (GRCm39) |
S220P |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,774,473 (GRCm39) |
|
probably null |
Het |
| Mllt1 |
T |
C |
17: 57,206,806 (GRCm39) |
D346G |
probably benign |
Het |
| Myef2 |
A |
C |
2: 124,942,345 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,079,991 (GRCm39) |
S1095G |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,512,651 (GRCm39) |
|
silent |
Het |
| Or10a3m |
A |
G |
7: 108,312,949 (GRCm39) |
M118V |
possibly damaging |
Het |
| Piwil2 |
G |
A |
14: 70,628,935 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,441,896 (GRCm39) |
F3612I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scnn1b |
T |
C |
7: 121,516,746 (GRCm39) |
I495T |
probably damaging |
Het |
| Sgo2b |
A |
C |
8: 64,379,571 (GRCm39) |
V1087G |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,481,786 (GRCm39) |
V91E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,946,685 (GRCm39) |
I29T |
possibly damaging |
Het |
| Spink5 |
A |
T |
18: 44,148,661 (GRCm39) |
N908I |
probably benign |
Het |
| Svopl |
A |
C |
6: 37,993,978 (GRCm39) |
I351S |
probably damaging |
Het |
| Syngr3 |
A |
G |
17: 24,905,302 (GRCm39) |
V198A |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,456,953 (GRCm39) |
Y622* |
probably null |
Het |
| Tkt |
T |
A |
14: 30,280,737 (GRCm39) |
M56K |
probably damaging |
Het |
| Trip10 |
T |
C |
17: 57,570,135 (GRCm39) |
V544A |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,409,995 (GRCm39) |
E195G |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,059,014 (GRCm39) |
P516S |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,581 (GRCm39) |
N255S |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,827,545 (GRCm39) |
T884A |
probably benign |
Het |
| Zdhhc2 |
A |
G |
8: 40,915,155 (GRCm39) |
N167S |
probably damaging |
Het |
|
| Other mutations in S100pbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:S100pbp
|
APN |
4 |
129,075,901 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02302:S100pbp
|
APN |
4 |
129,076,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:S100pbp
|
UTSW |
4 |
129,038,249 (GRCm39) |
unclassified |
probably benign |
|
|
R1720:S100pbp
|
UTSW |
4 |
129,075,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:S100pbp
|
UTSW |
4 |
129,075,893 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2415:S100pbp
|
UTSW |
4 |
129,075,614 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2762:S100pbp
|
UTSW |
4 |
129,049,219 (GRCm39) |
nonsense |
probably null |
|
|
R4815:S100pbp
|
UTSW |
4 |
129,044,726 (GRCm39) |
unclassified |
probably benign |
|
|
R5537:S100pbp
|
UTSW |
4 |
129,075,981 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7113:S100pbp
|
UTSW |
4 |
129,075,896 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7384:S100pbp
|
UTSW |
4 |
129,075,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7453:S100pbp
|
UTSW |
4 |
129,075,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8839:S100pbp
|
UTSW |
4 |
129,076,000 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8979:S100pbp
|
UTSW |
4 |
129,076,133 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9109:S100pbp
|
UTSW |
4 |
129,044,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9298:S100pbp
|
UTSW |
4 |
129,044,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:S100pbp
|
UTSW |
4 |
129,049,271 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:S100pbp
|
UTSW |
4 |
129,044,750 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2015-04-16 |
Incidental Mutation