Incidental Mutation 'R1147:Prob1'
| ID |
262811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prob1
|
| Ensembl Gene |
ENSMUSG00000073600 |
| Gene Name |
proline rich basic protein 1 |
| Synonyms |
LOC381148, Gm1614 |
| MMRRC Submission |
039220-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R1147 (G1)
|
| Quality Score |
80 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
35783400-35788274 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 35787859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 132
(Q132*)
|
| 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 null
Transcript: ENSMUST00000097619
AA Change: Q128*
|
| SMART Domains |
Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: Q128*
| 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 |
probably null
Transcript: ENSMUST00000190196
AA Change: Q132*
|
| SMART Domains |
Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: Q132*
| 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 |
0.9754 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
C |
8: 41,248,655 (GRCm39) |
I255T |
possibly damaging |
Het |
| Aknad1 |
T |
A |
3: 108,659,857 (GRCm39) |
N290K |
possibly damaging |
Het |
| Ano8 |
C |
A |
8: 71,934,661 (GRCm39) |
V447F |
probably damaging |
Het |
| Arhgef12 |
C |
T |
9: 42,955,552 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
A |
T |
3: 88,892,194 (GRCm39) |
M1358L |
possibly damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,397,121 (GRCm39) |
K837E |
possibly damaging |
Het |
| Cd19 |
T |
A |
7: 126,010,217 (GRCm39) |
D384V |
possibly damaging |
Het |
| Ces1f |
C |
T |
8: 93,984,909 (GRCm39) |
V473I |
possibly damaging |
Het |
| Chd6 |
C |
T |
2: 160,832,191 (GRCm39) |
E994K |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,415,931 (GRCm39) |
N1405K |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,379,426 (GRCm39) |
D3720G |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,789,939 (GRCm39) |
T199A |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Flacc1 |
A |
T |
1: 58,708,622 (GRCm39) |
Y215N |
probably damaging |
Het |
| Hrg |
G |
T |
16: 22,779,754 (GRCm39) |
C344F |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,008,596 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Kcnh2 |
T |
A |
5: 24,529,385 (GRCm39) |
I784F |
probably damaging |
Het |
| Kifc3 |
T |
C |
8: 95,864,546 (GRCm39) |
T55A |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lsamp |
G |
A |
16: 41,994,499 (GRCm39) |
|
probably benign |
Het |
| Meis3 |
G |
A |
7: 15,917,701 (GRCm39) |
|
probably benign |
Het |
| Nlrp4d |
A |
T |
7: 10,122,644 (GRCm39) |
N73K |
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,982 (GRCm39) |
F318S |
possibly damaging |
Het |
| Or2a20 |
A |
T |
6: 43,194,146 (GRCm39) |
T100S |
probably damaging |
Het |
| Or52w1 |
G |
A |
7: 105,018,484 (GRCm39) |
R308Q |
probably benign |
Het |
| Pde5a |
C |
T |
3: 122,587,962 (GRCm39) |
T376M |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,400,837 (GRCm39) |
I2204V |
probably null |
Het |
| Ppp1r13l |
A |
G |
7: 19,109,772 (GRCm39) |
D731G |
probably damaging |
Het |
| Ptk6 |
C |
T |
2: 180,837,590 (GRCm39) |
G443D |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,730,504 (GRCm39) |
D749G |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,749,265 (GRCm39) |
D1212E |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,434,966 (GRCm39) |
Y290C |
probably damaging |
Het |
| Scamp1 |
A |
G |
13: 94,361,394 (GRCm39) |
|
probably null |
Het |
| Slc6a11 |
T |
A |
6: 114,221,831 (GRCm39) |
I507N |
possibly damaging |
Het |
| Stx18 |
T |
G |
5: 38,284,267 (GRCm39) |
|
probably benign |
Het |
| Sybu |
A |
T |
15: 44,609,651 (GRCm39) |
F78I |
probably damaging |
Het |
| Tecpr2 |
T |
G |
12: 110,907,872 (GRCm39) |
|
probably benign |
Het |
| Tox |
A |
T |
4: 6,823,055 (GRCm39) |
N87K |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,741,576 (GRCm39) |
G1308R |
probably damaging |
Het |
| Trub2 |
A |
G |
2: 29,677,644 (GRCm39) |
|
probably benign |
Het |
| Vmn2r114 |
A |
T |
17: 23,530,037 (GRCm39) |
H123Q |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,072 (GRCm39) |
Y262F |
probably damaging |
Het |
| Vmn2r33 |
C |
T |
7: 7,557,144 (GRCm39) |
E519K |
probably benign |
Het |
| Zfat |
A |
T |
15: 68,084,432 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,351,017 (GRCm39) |
C1545S |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGATCTGACGTTTCGGCACAG -3'
(R):5'- GCGCTTTAAGACGCTTTGACCC -3'
Sequencing Primer
(F):5'- CACAGTGCGGGGTCTAAC -3'
(R):5'- TAGTGCAGGAGCCACCAG -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation