Incidental Mutation 'R6503:Prb1c'
| ID |
519846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prb1c
|
| Ensembl Gene |
ENSMUSG00000030143 |
| Gene Name |
proline-rich protein BstNI subfamily 1C |
| Synonyms |
Gm8882 |
| MMRRC Submission |
044635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6503 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
132338068-132341097 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 132338655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 188
(G188*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080849]
|
| AlphaFold |
E9Q7E4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000080849
AA Change: G188*
|
| SMART Domains |
Protein: ENSMUSP00000079660
Gene: ENSMUSG00000030143
AA Change: G188*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro-rich
|
1 |
118 |
2.2e-32 |
PFAM |
|
Pfam:Pro-rich
|
155 |
228 |
6.3e-14 |
PFAM |
|
Pfam:Pro-rich
|
211 |
277 |
5.8e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
T |
7: 78,747,580 (GRCm39) |
A784S |
probably benign |
Het |
| Anxa4 |
A |
G |
6: 86,721,649 (GRCm39) |
S204P |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,883,054 (GRCm39) |
N625D |
possibly damaging |
Het |
| Cage1 |
G |
A |
13: 38,209,425 (GRCm39) |
T78I |
possibly damaging |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,285 (GRCm39) |
C259S |
probably benign |
Het |
| Enah |
C |
T |
1: 181,746,076 (GRCm39) |
G402R |
probably damaging |
Het |
| Epha6 |
T |
A |
16: 60,025,984 (GRCm39) |
H486L |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,036,406 (GRCm39) |
M3353V |
probably benign |
Het |
| Gulp1 |
A |
T |
1: 44,812,540 (GRCm39) |
Q170L |
probably damaging |
Het |
| Jag1 |
C |
T |
2: 136,943,549 (GRCm39) |
G216S |
probably damaging |
Het |
| Krt8 |
T |
A |
15: 101,906,369 (GRCm39) |
Y380F |
possibly damaging |
Het |
| Mettl18 |
T |
C |
1: 163,824,687 (GRCm39) |
V336A |
possibly damaging |
Het |
| Ntmt2 |
T |
A |
1: 163,531,715 (GRCm39) |
D146V |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,926,042 (GRCm39) |
D342G |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,447,922 (GRCm39) |
S205P |
possibly damaging |
Het |
| Parp10 |
G |
A |
15: 76,126,684 (GRCm39) |
R195C |
probably damaging |
Het |
| Pcdha1 |
G |
A |
18: 37,064,724 (GRCm39) |
V463M |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,443,320 (GRCm39) |
I778V |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,448,810 (GRCm39) |
S3619T |
probably benign |
Het |
| St18 |
A |
T |
1: 6,865,621 (GRCm39) |
D33V |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,302,682 (GRCm39) |
S1014P |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,163,658 (GRCm39) |
D40G |
probably benign |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
A |
G |
3: 83,848,251 (GRCm39) |
S300P |
probably benign |
Het |
|
| Other mutations in Prb1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02797:Prb1c
|
APN |
6 |
132,340,008 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02961:Prb1c
|
APN |
6 |
132,338,371 (GRCm39) |
missense |
unknown |
|
|
R0334:Prb1c
|
UTSW |
6 |
132,341,021 (GRCm39) |
missense |
unknown |
|
|
R1167:Prb1c
|
UTSW |
6 |
132,338,553 (GRCm39) |
missense |
unknown |
|
|
R1635:Prb1c
|
UTSW |
6 |
132,339,969 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3956:Prb1c
|
UTSW |
6 |
132,338,814 (GRCm39) |
missense |
unknown |
|
|
R4734:Prb1c
|
UTSW |
6 |
132,338,891 (GRCm39) |
missense |
unknown |
|
|
R5275:Prb1c
|
UTSW |
6 |
132,338,840 (GRCm39) |
missense |
unknown |
|
|
R5295:Prb1c
|
UTSW |
6 |
132,338,840 (GRCm39) |
missense |
unknown |
|
|
R5506:Prb1c
|
UTSW |
6 |
132,338,819 (GRCm39) |
missense |
unknown |
|
|
R5580:Prb1c
|
UTSW |
6 |
132,338,432 (GRCm39) |
missense |
unknown |
|
|
R5975:Prb1c
|
UTSW |
6 |
132,339,036 (GRCm39) |
missense |
unknown |
|
|
R8110:Prb1c
|
UTSW |
6 |
132,338,531 (GRCm39) |
missense |
unknown |
|
|
R8714:Prb1c
|
UTSW |
6 |
132,341,051 (GRCm39) |
missense |
unknown |
|
|
R8931:Prb1c
|
UTSW |
6 |
132,338,897 (GRCm39) |
missense |
|
|
|
R9054:Prb1c
|
UTSW |
6 |
132,338,856 (GRCm39) |
missense |
unknown |
|
|
R9526:Prb1c
|
UTSW |
6 |
132,338,891 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGTTTCCAGGCCTAGGAG -3'
(R):5'- TTTCCAAAACCACCTCCTGGAG -3'
Sequencing Primer
(F):5'- TTCCAGGCCTAGGAGGTCCC -3'
(R):5'- GACCTCCCAGTTCTGATGAAAATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation