Incidental Mutation 'IGL02823:Prob1'
| ID |
361096 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prob1
|
| Ensembl Gene |
ENSMUSG00000073600 |
| Gene Name |
proline rich basic protein 1 |
| Synonyms |
LOC381148, Gm1614 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
IGL02823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
35783400-35788274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35785800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 818
(V818E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025209]
[ENSMUST00000025211]
[ENSMUST00000097619]
[ENSMUST00000190196]
|
| AlphaFold |
A0A087WR45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025209
|
| SMART Domains |
Protein: ENSMUSP00000025209
Gene: ENSMUSG00000024352
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA24
|
10 |
191 |
1.5e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025211
|
| SMART Domains |
Protein: ENSMUSP00000025211
Gene: ENSMUSG00000024353
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:DUF3456
|
48 |
177 |
5.8e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097619
AA Change: V814E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: V814E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
848 |
N/A |
INTRINSIC |
|
Pfam:DUF4585
|
862 |
931 |
4.6e-27 |
PFAM |
|
low complexity region
|
989 |
1002 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186951
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190196
AA Change: V818E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: V818E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
852 |
N/A |
INTRINSIC |
|
Pfam:DUF4585
|
864 |
936 |
7.5e-27 |
PFAM |
|
low complexity region
|
993 |
1006 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,410,074 (GRCm39) |
S194P |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,844,656 (GRCm39) |
D1488E |
probably damaging |
Het |
| Abhd18 |
A |
G |
3: 40,887,953 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,047,644 (GRCm39) |
V56A |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,890,246 (GRCm39) |
Y631H |
probably damaging |
Het |
| C9orf72 |
A |
T |
4: 35,213,031 (GRCm39) |
C215S |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,231,164 (GRCm39) |
H3097L |
possibly damaging |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| Eif2a |
G |
T |
3: 58,456,092 (GRCm39) |
A364S |
probably benign |
Het |
| Eps8l2 |
A |
T |
7: 140,921,988 (GRCm39) |
D22V |
probably damaging |
Het |
| Fndc7 |
A |
G |
3: 108,776,487 (GRCm39) |
F432S |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,058,531 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,125,046 (GRCm39) |
K121E |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,894,656 (GRCm39) |
I713T |
possibly damaging |
Het |
| Hs3st1 |
A |
G |
5: 39,772,100 (GRCm39) |
L181P |
probably damaging |
Het |
| Ksr1 |
C |
A |
11: 78,912,229 (GRCm39) |
V627L |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,877,141 (GRCm39) |
N2682D |
probably damaging |
Het |
| Lratd2 |
T |
C |
15: 60,694,972 (GRCm39) |
D258G |
probably damaging |
Het |
| Map3k19 |
G |
T |
1: 127,750,001 (GRCm39) |
H1117N |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,163,815 (GRCm39) |
A1121V |
probably damaging |
Het |
| Nlrp1a |
C |
T |
11: 70,983,249 (GRCm39) |
S1239N |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,793 (GRCm39) |
M136T |
possibly damaging |
Het |
| Prkra |
G |
T |
2: 76,460,768 (GRCm39) |
A310E |
probably damaging |
Het |
| Prl2c1 |
T |
C |
13: 28,040,416 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,846,734 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,865,270 (GRCm39) |
S720G |
possibly damaging |
Het |
| Rexo4 |
T |
C |
2: 26,852,489 (GRCm39) |
T149A |
probably benign |
Het |
| Slc39a2 |
T |
A |
14: 52,132,869 (GRCm39) |
Y271N |
probably damaging |
Het |
| Sprr2d |
T |
A |
3: 92,247,734 (GRCm39) |
C58* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,083,975 (GRCm39) |
G965D |
possibly damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,120 (GRCm39) |
E1265G |
probably benign |
Het |
| Terf2 |
T |
C |
8: 107,799,257 (GRCm39) |
N389S |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,115,888 (GRCm39) |
S410P |
probably damaging |
Het |
| Vwa3b |
A |
T |
1: 37,225,985 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Prob1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01400:Prob1
|
APN |
18 |
35,786,386 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02352:Prob1
|
APN |
18 |
35,785,893 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02359:Prob1
|
APN |
18 |
35,785,893 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03003:Prob1
|
APN |
18 |
35,786,428 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03390:Prob1
|
APN |
18 |
35,787,192 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0257:Prob1
|
UTSW |
18 |
35,786,092 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0421:Prob1
|
UTSW |
18 |
35,786,083 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0457:Prob1
|
UTSW |
18 |
35,785,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0485:Prob1
|
UTSW |
18 |
35,786,878 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0575:Prob1
|
UTSW |
18 |
35,787,774 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1056:Prob1
|
UTSW |
18 |
35,786,663 (GRCm39) |
missense |
probably benign |
|
|
R1147:Prob1
|
UTSW |
18 |
35,787,859 (GRCm39) |
nonsense |
probably null |
|
|
R1334:Prob1
|
UTSW |
18 |
35,786,305 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1727:Prob1
|
UTSW |
18 |
35,787,364 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1753:Prob1
|
UTSW |
18 |
35,786,305 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1826:Prob1
|
UTSW |
18 |
35,786,628 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1895:Prob1
|
UTSW |
18 |
35,785,942 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1937:Prob1
|
UTSW |
18 |
35,787,279 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2170:Prob1
|
UTSW |
18 |
35,787,790 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3435:Prob1
|
UTSW |
18 |
35,787,294 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4749:Prob1
|
UTSW |
18 |
35,785,869 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4968:Prob1
|
UTSW |
18 |
35,785,605 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5107:Prob1
|
UTSW |
18 |
35,785,989 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5602:Prob1
|
UTSW |
18 |
35,787,079 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5646:Prob1
|
UTSW |
18 |
35,787,167 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6035:Prob1
|
UTSW |
18 |
35,787,835 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6747:Prob1
|
UTSW |
18 |
35,788,207 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6954:Prob1
|
UTSW |
18 |
35,787,321 (GRCm39) |
missense |
probably benign |
|
|
R7061:Prob1
|
UTSW |
18 |
35,787,553 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7292:Prob1
|
UTSW |
18 |
35,787,603 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7296:Prob1
|
UTSW |
18 |
35,786,352 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7566:Prob1
|
UTSW |
18 |
35,788,038 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7723:Prob1
|
UTSW |
18 |
35,785,942 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7787:Prob1
|
UTSW |
18 |
35,785,285 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7798:Prob1
|
UTSW |
18 |
35,786,397 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8048:Prob1
|
UTSW |
18 |
35,786,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8101:Prob1
|
UTSW |
18 |
35,786,286 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8260:Prob1
|
UTSW |
18 |
35,787,210 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8676:Prob1
|
UTSW |
18 |
35,787,039 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9304:Prob1
|
UTSW |
18 |
35,787,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Prob1
|
UTSW |
18 |
35,786,218 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
X0067:Prob1
|
UTSW |
18 |
35,786,144 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1088:Prob1
|
UTSW |
18 |
35,785,822 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2015-12-18 |
Incidental Mutation