Incidental Mutation 'IGL00670:Prb1a'
ID |
27567 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prb1a
|
Ensembl Gene |
ENSMUSG00000067543 |
Gene Name |
proline-rich protein BstNI subfamily 1A |
Synonyms |
Prb1, proline-rich proteoglycan 2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
IGL00670
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
132183758-132187484 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to T
at 132184109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087853]
|
AlphaFold |
Q91X93 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087853
|
SMART Domains |
Protein: ENSMUSP00000085159 Gene: ENSMUSG00000067543
Domain | Start | End | E-Value | Type |
Pfam:Pro-rich
|
1 |
118 |
6.7e-33 |
PFAM |
Pfam:Pro-rich
|
115 |
195 |
4e-13 |
PFAM |
Pfam:Pro-rich
|
191 |
269 |
2.6e-13 |
PFAM |
Pfam:Pro-rich
|
229 |
305 |
1.2e-10 |
PFAM |
Pfam:Pro-rich
|
264 |
342 |
3.3e-11 |
PFAM |
Pfam:Pro-rich
|
302 |
366 |
7.6e-12 |
PFAM |
Pfam:Pro-rich
|
338 |
403 |
7.5e-11 |
PFAM |
Pfam:Pro-rich
|
357 |
434 |
1.3e-10 |
PFAM |
Pfam:Pro-rich
|
394 |
454 |
1.9e-11 |
PFAM |
Pfam:Pro-rich
|
430 |
498 |
8.8e-12 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
T |
6: 142,633,007 (GRCm39) |
L245Q |
probably damaging |
Het |
Abcd3 |
A |
T |
3: 121,569,333 (GRCm39) |
V333D |
probably damaging |
Het |
Aff2 |
T |
A |
X: 68,588,199 (GRCm39) |
M122K |
possibly damaging |
Het |
Car10 |
C |
T |
11: 93,195,483 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
T |
A |
15: 82,675,942 (GRCm39) |
M257L |
probably benign |
Het |
Cyp2j5 |
T |
G |
4: 96,522,512 (GRCm39) |
D354A |
probably benign |
Het |
Fam228b |
T |
C |
12: 4,814,081 (GRCm39) |
K59E |
probably damaging |
Het |
Fndc3c1 |
T |
C |
X: 105,489,383 (GRCm39) |
D346G |
probably benign |
Het |
Med14 |
G |
A |
X: 12,620,428 (GRCm39) |
A95V |
probably damaging |
Het |
Med23 |
T |
C |
10: 24,764,482 (GRCm39) |
L155P |
probably damaging |
Het |
Mrps31 |
A |
G |
8: 22,919,206 (GRCm39) |
D312G |
probably damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,719,059 (GRCm39) |
N618K |
probably benign |
Het |
Slc5a4a |
A |
T |
10: 75,999,567 (GRCm39) |
I210F |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,635,241 (GRCm39) |
I522N |
probably benign |
Het |
Ttn |
A |
T |
2: 76,657,335 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Prb1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01017:Prb1a
|
APN |
6 |
132,184,194 (GRCm39) |
missense |
unknown |
|
R0369:Prb1a
|
UTSW |
6 |
132,184,620 (GRCm39) |
nonsense |
probably null |
|
R1500:Prb1a
|
UTSW |
6 |
132,184,439 (GRCm39) |
missense |
unknown |
|
R1544:Prb1a
|
UTSW |
6 |
132,186,424 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1544:Prb1a
|
UTSW |
6 |
132,186,423 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1559:Prb1a
|
UTSW |
6 |
132,185,507 (GRCm39) |
missense |
unknown |
|
R2142:Prb1a
|
UTSW |
6 |
132,184,166 (GRCm39) |
missense |
unknown |
|
R2655:Prb1a
|
UTSW |
6 |
132,187,425 (GRCm39) |
missense |
unknown |
|
R4065:Prb1a
|
UTSW |
6 |
132,184,658 (GRCm39) |
missense |
unknown |
|
R4505:Prb1a
|
UTSW |
6 |
132,184,533 (GRCm39) |
nonsense |
probably null |
|
R5925:Prb1a
|
UTSW |
6 |
132,187,475 (GRCm39) |
missense |
unknown |
|
R6391:Prb1a
|
UTSW |
6 |
132,184,139 (GRCm39) |
missense |
unknown |
|
R6525:Prb1a
|
UTSW |
6 |
132,184,467 (GRCm39) |
missense |
unknown |
|
R6745:Prb1a
|
UTSW |
6 |
132,186,383 (GRCm39) |
splice site |
probably null |
|
R7192:Prb1a
|
UTSW |
6 |
132,184,335 (GRCm39) |
missense |
unknown |
|
R7536:Prb1a
|
UTSW |
6 |
132,184,184 (GRCm39) |
missense |
unknown |
|
R8483:Prb1a
|
UTSW |
6 |
132,185,398 (GRCm39) |
missense |
unknown |
|
R9139:Prb1a
|
UTSW |
6 |
132,185,306 (GRCm39) |
missense |
unknown |
|
R9365:Prb1a
|
UTSW |
6 |
132,184,201 (GRCm39) |
missense |
unknown |
|
R9559:Prb1a
|
UTSW |
6 |
132,184,388 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2013-04-17 |