Incidental Mutation 'R5537:S100pbp'
| ID |
434867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
S100pbp
|
| Ensembl Gene |
ENSMUSG00000040928 |
| Gene Name |
S100P binding protein |
| Synonyms |
4930429A08Rik |
| MMRRC Submission |
043095-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R5537 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129041795-129083485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129075981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 115
(P115S)
|
| 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 benign
Transcript: ENSMUST00000049081
AA Change: P115S
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039820
Gene: ENSMUSG00000040928
AA Change: P115S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S100PBPR
|
21 |
382 |
4.4e-194 |
PFAM |
|
| Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000106061
AA Change: P115S
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101676
Gene: ENSMUSG00000040928
AA Change: P115S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S100PBPR
|
21 |
382 |
8.5e-193 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117350
AA Change: P115S
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113214
Gene: ENSMUSG00000040928
AA Change: P115S
| 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 benign
Transcript: ENSMUST00000117497
AA Change: P115S
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113084
Gene: ENSMUSG00000040928
AA Change: P115S
| 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 benign
Transcript: ENSMUST00000117965
AA Change: P115S
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113920
Gene: ENSMUSG00000040928
AA Change: P115S
| 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: ENSMUST00000126748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148920
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 9,005,485 (GRCm39) |
I1123F |
probably damaging |
Het |
| Acsl3 |
C |
T |
1: 78,684,073 (GRCm39) |
R702C |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,604,892 (GRCm39) |
E1031G |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,397,361 (GRCm39) |
S536P |
probably damaging |
Het |
| Arfgef2 |
G |
T |
2: 166,698,513 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
G |
T |
2: 118,746,461 (GRCm39) |
D27Y |
probably damaging |
Het |
| Brinp2 |
C |
T |
1: 158,082,583 (GRCm39) |
V246I |
probably damaging |
Het |
| Ccdc187 |
C |
A |
2: 26,166,237 (GRCm39) |
A731S |
probably benign |
Het |
| Cdc37l1 |
T |
A |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
| Cdk5r1 |
A |
G |
11: 80,368,825 (GRCm39) |
Y164C |
probably damaging |
Het |
| Clrn3 |
A |
T |
7: 135,115,791 (GRCm39) |
H186Q |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,606,872 (GRCm39) |
T517I |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,228,959 (GRCm39) |
S2362L |
probably benign |
Het |
| Eapp |
G |
A |
12: 54,738,844 (GRCm39) |
T98I |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,389,603 (GRCm39) |
|
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,713 (GRCm39) |
V55A |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,292,594 (GRCm39) |
D432G |
probably benign |
Het |
| Mrgprx1 |
T |
A |
7: 47,670,898 (GRCm39) |
H283L |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,019,914 (GRCm39) |
F134L |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,523 (GRCm39) |
K225R |
probably benign |
Het |
| Or4f14b |
A |
T |
2: 111,775,393 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,570 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Or8b43 |
T |
A |
9: 38,360,538 (GRCm39) |
Y123* |
probably null |
Het |
| Pfkp |
C |
A |
13: 6,669,278 (GRCm39) |
W235L |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,158,118 (GRCm39) |
|
probably null |
Het |
| Psma5-ps |
A |
G |
10: 85,149,913 (GRCm39) |
|
noncoding transcript |
Het |
| Rab14 |
A |
T |
2: 35,082,649 (GRCm39) |
F12L |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,195,261 (GRCm39) |
I429N |
probably benign |
Het |
| Scarf1 |
G |
A |
11: 75,416,357 (GRCm39) |
A600T |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,609,059 (GRCm39) |
F755L |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,367,023 (GRCm39) |
I510F |
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,866,175 (GRCm39) |
S5P |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,061,641 (GRCm39) |
Y631C |
probably damaging |
Het |
| Tmem182 |
A |
T |
1: 40,894,069 (GRCm39) |
I195F |
probably benign |
Het |
| Tox |
A |
G |
4: 6,697,510 (GRCm39) |
L431P |
probably damaging |
Het |
| Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
| Tsg101 |
T |
C |
7: 46,540,876 (GRCm39) |
K294E |
probably benign |
Het |
| Tubb2a |
C |
A |
13: 34,259,434 (GRCm39) |
V119L |
probably benign |
Het |
| Vps37d |
C |
T |
5: 135,103,256 (GRCm39) |
E129K |
possibly damaging |
Het |
| Zfp974 |
TAATCTGTCTCCAAATCTG |
TAATCTG |
7: 27,611,671 (GRCm39) |
|
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,054,003 (GRCm39) |
V263A |
possibly 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 |
|
IGL02554:S100pbp
|
APN |
4 |
129,075,644 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGGTATTGGGACTGACC -3'
(R):5'- GAGATGCTCTTGAAGGACGATG -3'
Sequencing Primer
(F):5'- AGGCTCAGTGCAACGTTTAC -3'
(R):5'- CTCTTGAAGGACGATGATGGTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation