Incidental Mutation 'R7566:Prob1'
| ID |
585473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prob1
|
| Ensembl Gene |
ENSMUSG00000073600 |
| Gene Name |
proline rich basic protein 1 |
| Synonyms |
LOC381148, Gm1614 |
| MMRRC Submission |
045628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R7566 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
35783400-35788274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35788038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 72
(V72A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025209]
[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: ENSMUST00000097619
AA Change: V68A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: V68A
| 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: V72A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: V72A
| 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 |
|
| Meta Mutation Damage Score |
0.0602 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
G |
1: 12,021,252 (GRCm39) |
S420R |
probably damaging |
Het |
| Acat2 |
C |
T |
17: 13,166,346 (GRCm39) |
D219N |
probably damaging |
Het |
| Anapc10 |
G |
A |
8: 80,446,308 (GRCm39) |
R46Q |
possibly damaging |
Het |
| Ankub1 |
G |
A |
3: 57,573,039 (GRCm39) |
R228* |
probably null |
Het |
| Arhgap21 |
T |
C |
2: 20,917,102 (GRCm39) |
N91S |
probably benign |
Het |
| Arhgap32 |
T |
A |
9: 32,162,018 (GRCm39) |
V323D |
probably benign |
Het |
| Bcas1 |
C |
T |
2: 170,212,369 (GRCm39) |
|
probably null |
Het |
| Cd109 |
C |
T |
9: 78,588,119 (GRCm39) |
P716S |
probably damaging |
Het |
| Chd4 |
C |
T |
6: 125,078,866 (GRCm39) |
P267L |
possibly damaging |
Het |
| Cpne7 |
G |
T |
8: 123,860,552 (GRCm39) |
V502F |
probably damaging |
Het |
| Cracd |
G |
A |
5: 77,014,122 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
C |
T |
2: 156,604,657 (GRCm39) |
A921V |
probably benign |
Het |
| Faap24 |
G |
T |
7: 35,092,465 (GRCm39) |
R151S |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,854,657 (GRCm39) |
S51P |
probably damaging |
Het |
| Fbxl8 |
A |
G |
8: 105,994,938 (GRCm39) |
D150G |
possibly damaging |
Het |
| Fut10 |
A |
G |
8: 31,749,950 (GRCm39) |
K412R |
probably benign |
Het |
| G0s2 |
T |
C |
1: 192,955,076 (GRCm39) |
S3G |
probably benign |
Het |
| Gm1527 |
T |
C |
3: 28,974,767 (GRCm39) |
Y527H |
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,733,510 (GRCm39) |
K227R |
possibly damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,242,848 (GRCm39) |
Y354C |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,344,869 (GRCm39) |
N4685K |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,791,279 (GRCm39) |
Y717F |
probably benign |
Het |
| Kcnh5 |
C |
T |
12: 75,161,166 (GRCm39) |
W247* |
probably null |
Het |
| Kcnt1 |
C |
A |
2: 25,806,048 (GRCm39) |
S1212R |
probably benign |
Het |
| Kirrel1 |
A |
G |
3: 86,995,791 (GRCm39) |
V381A |
probably damaging |
Het |
| Loxl1 |
T |
A |
9: 58,219,481 (GRCm39) |
Q230L |
probably damaging |
Het |
| Magi1 |
T |
C |
6: 93,655,308 (GRCm39) |
E1446G |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,795,330 (GRCm39) |
V550A |
possibly damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,652 (GRCm39) |
S132P |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,549,925 (GRCm39) |
H5456L |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,391,867 (GRCm39) |
K207R |
probably damaging |
Het |
| Nlrp4a |
A |
C |
7: 26,148,670 (GRCm39) |
|
probably null |
Het |
| Nr6a1 |
T |
C |
2: 38,621,085 (GRCm39) |
M407V |
possibly damaging |
Het |
| Or13c7b |
A |
G |
4: 43,820,711 (GRCm39) |
S217P |
probably damaging |
Het |
| Or2b2b |
T |
G |
13: 21,858,737 (GRCm39) |
I126L |
possibly damaging |
Het |
| Or2z2 |
G |
T |
11: 58,346,489 (GRCm39) |
F95L |
probably benign |
Het |
| Or6c206 |
T |
C |
10: 129,097,469 (GRCm39) |
I213T |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,881,626 (GRCm39) |
|
probably benign |
Het |
| Ovol3 |
G |
T |
7: 29,933,791 (GRCm39) |
F110L |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,549,821 (GRCm39) |
T724A |
probably benign |
Het |
| Phtf2 |
G |
T |
5: 20,970,799 (GRCm39) |
T653N |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,688,663 (GRCm39) |
|
probably null |
Het |
| Prkce |
A |
T |
17: 86,800,757 (GRCm39) |
E391V |
probably benign |
Het |
| Prrc2b |
C |
A |
2: 32,084,402 (GRCm39) |
P289Q |
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,514,280 (GRCm39) |
N114K |
probably benign |
Het |
| Rho |
T |
A |
6: 115,909,135 (GRCm39) |
L57H |
probably damaging |
Het |
| Slc44a5 |
A |
C |
3: 153,975,626 (GRCm39) |
D679A |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,407,239 (GRCm39) |
D898V |
probably damaging |
Het |
| Spag16 |
C |
T |
1: 69,909,487 (GRCm39) |
R195C |
probably damaging |
Het |
| Tmprss11a |
T |
G |
5: 86,591,993 (GRCm39) |
D60A |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,565,293 (GRCm39) |
R28311S |
probably damaging |
Het |
| Wfikkn1 |
T |
C |
17: 26,097,352 (GRCm39) |
D324G |
probably damaging |
Het |
| Zan |
A |
C |
5: 137,410,845 (GRCm39) |
|
probably null |
Het |
| Zfp945 |
A |
T |
17: 23,070,727 (GRCm39) |
C412S |
possibly damaging |
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 |
|
IGL02823:Prob1
|
APN |
18 |
35,785,800 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGACGTTTCGGCACAG -3'
(R):5'- TTAAGACGCTTTGACCCCG -3'
Sequencing Primer
(F):5'- ACACTCGTACTGGCCTGAGAC -3'
(R):5'- TAGTGCTAGGTGTCCTGCCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation