Incidental Mutation 'R5107:Prob1'
| ID |
393631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prob1
|
| Ensembl Gene |
ENSMUSG00000073600 |
| Gene Name |
proline rich basic protein 1 |
| Synonyms |
LOC381148, Gm1614 |
| MMRRC Submission |
042695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R5107 (G1)
|
| Quality Score |
100 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
35783400-35788274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35785989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 755
(N755S)
|
| 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: N751S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: N751S
| 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: N755S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: N755S
| 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 |
0.0584 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
C |
13: 61,001,472 (GRCm39) |
N85S |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,708,977 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Agbl5 |
C |
A |
5: 31,049,822 (GRCm39) |
P257Q |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,118,615 (GRCm39) |
M130L |
probably damaging |
Het |
| Atp6v1f |
T |
A |
6: 29,468,198 (GRCm39) |
|
probably null |
Het |
| Ccdc78 |
G |
A |
17: 26,006,454 (GRCm39) |
V133M |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,215,821 (GRCm39) |
K145E |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,913,057 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
T |
C |
6: 69,608,914 (GRCm39) |
I24V |
possibly damaging |
Het |
| Ikzf3 |
A |
G |
11: 98,381,302 (GRCm39) |
Y93H |
probably damaging |
Het |
| Isl2 |
T |
C |
9: 55,449,570 (GRCm39) |
V82A |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,750,340 (GRCm39) |
|
probably benign |
Het |
| Krt4 |
A |
T |
15: 101,831,226 (GRCm39) |
M225K |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,827,673 (GRCm39) |
V484A |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,267,086 (GRCm39) |
V1592E |
possibly damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,867,533 (GRCm39) |
P736L |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,795,901 (GRCm39) |
F376I |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,409,268 (GRCm39) |
H1117Q |
unknown |
Het |
| Myh7 |
T |
A |
14: 55,223,881 (GRCm39) |
|
probably benign |
Het |
| Myod1 |
G |
T |
7: 46,027,218 (GRCm39) |
A228S |
probably benign |
Het |
| Ntrk1 |
T |
C |
3: 87,702,280 (GRCm39) |
T58A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,144 (GRCm39) |
T16A |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,094,893 (GRCm39) |
V559E |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,163,802 (GRCm39) |
N191S |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,870,566 (GRCm39) |
S161P |
probably benign |
Het |
| Pias1 |
C |
A |
9: 62,789,510 (GRCm39) |
A566S |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,612,623 (GRCm39) |
|
probably benign |
Het |
| Pmp22 |
A |
G |
11: 63,049,237 (GRCm39) |
E160G |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,135,062 (GRCm39) |
|
probably null |
Het |
| Rhou |
A |
T |
8: 124,387,912 (GRCm39) |
K215* |
probably null |
Het |
| Scaper |
A |
G |
9: 55,487,616 (GRCm39) |
S749P |
probably damaging |
Het |
| Selenop |
A |
G |
15: 3,305,075 (GRCm39) |
E77G |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,627,572 (GRCm39) |
S490* |
probably null |
Het |
| Slc26a2 |
A |
G |
18: 61,331,632 (GRCm39) |
Y600H |
probably damaging |
Het |
| Slfn8 |
A |
C |
11: 82,907,976 (GRCm39) |
I189S |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,885,752 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
G |
A |
2: 30,036,733 (GRCm39) |
E205K |
probably damaging |
Het |
| Tex47 |
C |
T |
5: 7,354,842 (GRCm39) |
R8W |
probably benign |
Het |
| Tmem198b |
T |
C |
10: 128,638,156 (GRCm39) |
T136A |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,305,705 (GRCm39) |
Q414R |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,608,496 (GRCm39) |
I16063T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,693,905 (GRCm39) |
V321A |
possibly damaging |
Het |
| Ubox5 |
A |
G |
2: 130,441,688 (GRCm39) |
L333P |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,286,602 (GRCm39) |
Y78* |
probably null |
Het |
| Wnk4 |
A |
G |
11: 101,166,364 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,340,054 (GRCm39) |
D765G |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,342,205 (GRCm39) |
G1482V |
probably damaging |
Het |
| Znhit1 |
A |
G |
5: 137,015,682 (GRCm39) |
V2A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCGGTGTCTCCAATTCC -3'
(R):5'- TGTGGTACCTCATCCCTACG -3'
Sequencing Primer
(F):5'- GTCTCCAATTCCGGCGCTG -3'
(R):5'- TACGAGTCACCAGAGCCTTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation