Incidental Mutation 'R6954:Prob1'
| ID |
541395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prob1
|
| Ensembl Gene |
ENSMUSG00000073600 |
| Gene Name |
proline rich basic protein 1 |
| Synonyms |
LOC381148, Gm1614 |
| MMRRC Submission |
045066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R6954 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
35650351-35655238 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35654268 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 311
(V311A)
|
| 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 |
probably benign
Transcript: ENSMUST00000097619
AA Change: V307A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: V307A
| 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 |
probably benign
Transcript: ENSMUST00000190196
AA Change: V311A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: V311A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210407C18Rik |
T |
A |
11: 58,608,488 (GRCm38) |
Y168F |
probably benign |
Het |
| 4930451I11Rik |
A |
T |
7: 126,830,637 (GRCm38) |
|
probably null |
Het |
| Alox5 |
A |
C |
6: 116,420,280 (GRCm38) |
Y314* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 127,064,951 (GRCm38) |
S1044P |
probably benign |
Het |
| Ash2l |
A |
G |
8: 25,822,768 (GRCm38) |
V391A |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 141,067,232 (GRCm38) |
T326A |
probably benign |
Het |
| Ccm2 |
T |
A |
11: 6,594,239 (GRCm38) |
I345N |
probably damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,748,559 (GRCm38) |
H1034Y |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,599,496 (GRCm38) |
L849S |
probably damaging |
Het |
| Ctrb1 |
A |
G |
8: 111,686,664 (GRCm38) |
S239P |
probably damaging |
Het |
| D13Ertd608e |
A |
G |
13: 119,846,130 (GRCm38) |
D20G |
possibly damaging |
Het |
| Dennd1b |
T |
A |
1: 139,168,945 (GRCm38) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,066,432 (GRCm38) |
I2773T |
probably damaging |
Het |
| Eif2b2 |
T |
A |
12: 85,226,043 (GRCm38) |
F267L |
probably damaging |
Het |
| Fcrls |
A |
G |
3: 87,263,676 (GRCm38) |
|
probably benign |
Het |
| Furin |
G |
T |
7: 80,396,964 (GRCm38) |
D181E |
possibly damaging |
Het |
| Gm29106 |
T |
A |
1: 118,200,587 (GRCm38) |
C670S |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,168,490 (GRCm38) |
D204E |
possibly damaging |
Het |
| Hsf2 |
T |
A |
10: 57,504,643 (GRCm38) |
I191N |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,799,692 (GRCm38) |
D566G |
probably benign |
Het |
| Igf1 |
G |
C |
10: 87,864,860 (GRCm38) |
V49L |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,826,663 (GRCm38) |
C44Y |
probably damaging |
Het |
| Letm1 |
G |
A |
5: 33,782,507 (GRCm38) |
R16C |
probably benign |
Het |
| Marf1 |
A |
G |
16: 14,138,520 (GRCm38) |
V819A |
probably damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,891,952 (GRCm38) |
S428T |
probably benign |
Het |
| Myo1d |
T |
C |
11: 80,674,957 (GRCm38) |
I347M |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,290,819 (GRCm38) |
I175V |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,223,414 (GRCm38) |
V438E |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,208,109 (GRCm38) |
V768E |
possibly damaging |
Het |
| Olfr1015 |
T |
A |
2: 85,786,382 (GRCm38) |
Y290* |
probably null |
Het |
| Olfr731 |
A |
T |
14: 50,238,110 (GRCm38) |
Y258* |
probably null |
Het |
| Pcdh15 |
C |
T |
10: 74,645,989 (GRCm38) |
H1651Y |
possibly damaging |
Het |
| Pdgfra |
A |
T |
5: 75,173,394 (GRCm38) |
Q376L |
possibly damaging |
Het |
| Pign |
T |
C |
1: 105,553,897 (GRCm38) |
I791M |
probably benign |
Het |
| Pik3c2b |
T |
G |
1: 133,066,303 (GRCm38) |
S2A |
possibly damaging |
Het |
| Pip5k1a |
A |
T |
3: 95,068,247 (GRCm38) |
I304K |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,817,853 (GRCm38) |
L1294* |
probably null |
Het |
| Pprc1 |
T |
C |
19: 46,064,433 (GRCm38) |
S797P |
probably damaging |
Het |
| Prune2 |
C |
A |
19: 17,000,021 (GRCm38) |
T40K |
probably damaging |
Het |
| Rif1 |
T |
G |
2: 52,112,691 (GRCm38) |
D2052E |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,032,891 (GRCm38) |
V195A |
probably damaging |
Het |
| Scfd1 |
T |
C |
12: 51,427,946 (GRCm38) |
|
probably null |
Het |
| Sidt2 |
A |
T |
9: 45,952,850 (GRCm38) |
N123K |
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,622,096 (GRCm38) |
A320T |
probably benign |
Het |
| Slc25a10 |
A |
G |
11: 120,498,147 (GRCm38) |
H279R |
probably benign |
Het |
| Slc35b4 |
A |
G |
6: 34,158,621 (GRCm38) |
V252A |
probably benign |
Het |
| Slc46a3 |
T |
C |
5: 147,886,340 (GRCm38) |
T231A |
probably benign |
Het |
| Stxbp1 |
T |
A |
2: 32,801,893 (GRCm38) |
H429L |
probably damaging |
Het |
| Tas2r134 |
C |
T |
2: 51,627,770 (GRCm38) |
T87I |
probably benign |
Het |
| Tdpoz2 |
A |
T |
3: 93,652,275 (GRCm38) |
L130H |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,554,724 (GRCm38) |
|
probably null |
Het |
| Tmppe |
G |
A |
9: 114,405,523 (GRCm38) |
V297I |
probably benign |
Het |
| Ung |
G |
T |
5: 114,131,337 (GRCm38) |
A37S |
probably benign |
Het |
| Vdac1 |
T |
C |
11: 52,386,373 (GRCm38) |
Y237H |
probably damaging |
Het |
| Vgll4 |
T |
C |
6: 114,921,367 (GRCm38) |
Y11C |
probably damaging |
Het |
| Vmn1r24 |
A |
G |
6: 57,956,452 (GRCm38) |
I27T |
probably benign |
Het |
| Zfp280b |
T |
A |
10: 76,039,688 (GRCm38) |
M467K |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,484,365 (GRCm38) |
I329V |
probably damaging |
Het |
|
| Other mutations in Prob1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01400:Prob1
|
APN |
18 |
35,653,333 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02352:Prob1
|
APN |
18 |
35,652,840 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL02359:Prob1
|
APN |
18 |
35,652,840 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL02823:Prob1
|
APN |
18 |
35,652,747 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL03003:Prob1
|
APN |
18 |
35,653,375 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL03390:Prob1
|
APN |
18 |
35,654,139 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0257:Prob1
|
UTSW |
18 |
35,653,039 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0421:Prob1
|
UTSW |
18 |
35,653,030 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0457:Prob1
|
UTSW |
18 |
35,652,486 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0485:Prob1
|
UTSW |
18 |
35,653,825 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0575:Prob1
|
UTSW |
18 |
35,654,721 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1056:Prob1
|
UTSW |
18 |
35,653,610 (GRCm38) |
missense |
probably benign |
|
|
R1147:Prob1
|
UTSW |
18 |
35,654,806 (GRCm38) |
nonsense |
probably null |
|
|
R1334:Prob1
|
UTSW |
18 |
35,653,252 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1727:Prob1
|
UTSW |
18 |
35,654,311 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1753:Prob1
|
UTSW |
18 |
35,653,252 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1826:Prob1
|
UTSW |
18 |
35,653,575 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1895:Prob1
|
UTSW |
18 |
35,652,889 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1937:Prob1
|
UTSW |
18 |
35,654,226 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R2170:Prob1
|
UTSW |
18 |
35,654,737 (GRCm38) |
missense |
probably benign |
0.18 |
|
R3435:Prob1
|
UTSW |
18 |
35,654,241 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4749:Prob1
|
UTSW |
18 |
35,652,816 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4968:Prob1
|
UTSW |
18 |
35,652,552 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5107:Prob1
|
UTSW |
18 |
35,652,936 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5602:Prob1
|
UTSW |
18 |
35,654,026 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5646:Prob1
|
UTSW |
18 |
35,654,114 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6035:Prob1
|
UTSW |
18 |
35,654,782 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6747:Prob1
|
UTSW |
18 |
35,655,154 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7061:Prob1
|
UTSW |
18 |
35,654,500 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7292:Prob1
|
UTSW |
18 |
35,654,550 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7296:Prob1
|
UTSW |
18 |
35,653,299 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7566:Prob1
|
UTSW |
18 |
35,654,985 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7723:Prob1
|
UTSW |
18 |
35,652,889 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7787:Prob1
|
UTSW |
18 |
35,652,232 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7798:Prob1
|
UTSW |
18 |
35,653,344 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8048:Prob1
|
UTSW |
18 |
35,653,551 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8101:Prob1
|
UTSW |
18 |
35,653,233 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8260:Prob1
|
UTSW |
18 |
35,654,157 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8676:Prob1
|
UTSW |
18 |
35,653,986 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9304:Prob1
|
UTSW |
18 |
35,654,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9440:Prob1
|
UTSW |
18 |
35,653,165 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
X0067:Prob1
|
UTSW |
18 |
35,653,091 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
Z1088:Prob1
|
UTSW |
18 |
35,652,769 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGGAGTCTCACGGGGAAAC -3'
(R):5'- GAAACGTCAGATCGAGCTGC -3'
Sequencing Primer
(F):5'- TCTCACGGGGAAACTGGGTC -3'
(R):5'- TCCCTGGACGAGTCTCTGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation