Incidental Mutation 'R9440:Prob1'
| ID |
713613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prob1
|
| Ensembl Gene |
ENSMUSG00000073600 |
| Gene Name |
proline rich basic protein 1 |
| Synonyms |
LOC381148, Gm1614 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R9440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
35783400-35788274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35786218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 679
(L679I)
|
| 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: L675I
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: L675I
| 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 |
possibly damaging
Transcript: ENSMUST00000190196
AA Change: L679I
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: L679I
| 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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
A |
17: 24,499,452 (GRCm39) |
T1359M |
probably benign |
Het |
| Acacb |
T |
A |
5: 114,384,085 (GRCm39) |
C2205S |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,841,591 (GRCm39) |
E70G |
probably benign |
Het |
| Aldh1a3 |
C |
A |
7: 66,068,992 (GRCm39) |
|
probably null |
Het |
| Asb4 |
A |
G |
6: 5,429,817 (GRCm39) |
I352M |
probably benign |
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,101,961 (GRCm39) |
L101P |
probably benign |
Het |
| Bms1 |
A |
T |
6: 118,382,217 (GRCm39) |
D440E |
probably benign |
Het |
| Bpifb6 |
A |
T |
2: 153,747,914 (GRCm39) |
D191V |
probably benign |
Het |
| Cfap298 |
A |
T |
16: 90,726,832 (GRCm39) |
V116E |
probably benign |
Het |
| Cfd |
T |
C |
10: 79,726,816 (GRCm39) |
|
probably null |
Het |
| Cnot3 |
G |
A |
7: 3,656,560 (GRCm39) |
E252K |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,707,068 (GRCm39) |
D2622G |
unknown |
Het |
| Crybg2 |
T |
C |
4: 133,801,602 (GRCm39) |
S612P |
probably benign |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,581 (GRCm39) |
K167R |
probably damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,335 (GRCm39) |
V279A |
possibly damaging |
Het |
| Gipc2 |
T |
C |
3: 151,833,706 (GRCm39) |
T192A |
possibly damaging |
Het |
| Gm3285 |
T |
C |
10: 77,697,911 (GRCm39) |
V20A |
|
Het |
| Gorasp2 |
T |
C |
2: 70,541,469 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
A |
G |
11: 97,229,315 (GRCm39) |
S947P |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,051 (GRCm39) |
R368Q |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,455,600 (GRCm39) |
V876A |
probably benign |
Het |
| Marf1 |
A |
C |
16: 13,938,196 (GRCm39) |
D1433E |
probably benign |
Het |
| Mcm4 |
A |
T |
16: 15,453,175 (GRCm39) |
C171* |
probably null |
Het |
| Micall1 |
C |
T |
15: 79,011,159 (GRCm39) |
P510S |
|
Het |
| Morc3 |
A |
G |
16: 93,649,975 (GRCm39) |
|
probably null |
Het |
| Mrpl28 |
G |
T |
17: 26,345,266 (GRCm39) |
V229F |
possibly damaging |
Het |
| Mrps33 |
A |
T |
6: 39,782,364 (GRCm39) |
Y52* |
probably null |
Het |
| Mybphl |
T |
C |
3: 108,282,202 (GRCm39) |
I144T |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,433,329 (GRCm39) |
M1657V |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or5p67 |
A |
G |
7: 107,922,037 (GRCm39) |
I282T |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,318,912 (GRCm39) |
K637R |
probably benign |
Het |
| Sgms2 |
C |
A |
3: 131,118,718 (GRCm39) |
C255F |
probably damaging |
Het |
| Slc17a9 |
T |
C |
2: 180,383,090 (GRCm39) |
C399R |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,915,455 (GRCm39) |
|
probably null |
Het |
| St14 |
A |
G |
9: 31,007,845 (GRCm39) |
L578P |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,573,906 (GRCm39) |
L102* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,072,273 (GRCm39) |
T2607A |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,886,932 (GRCm39) |
|
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,760,234 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,955,709 (GRCm39) |
I358V |
probably benign |
Het |
| Uroc1 |
C |
A |
6: 90,322,353 (GRCm39) |
S292R |
possibly damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,415 (GRCm39) |
I30T |
possibly damaging |
Het |
| Vps33a |
A |
T |
5: 123,703,047 (GRCm39) |
I192N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,516,724 (GRCm39) |
I69V |
probably benign |
Het |
| Wdr97 |
T |
C |
15: 76,245,064 (GRCm39) |
S1176P |
|
Het |
| Xirp1 |
G |
A |
9: 119,847,203 (GRCm39) |
T560M |
probably damaging |
Het |
| Zfp512 |
A |
T |
5: 31,628,359 (GRCm39) |
T266S |
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 |
|
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 |
|
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'- TGGACACTCGGGGTTTTCTC -3'
(R):5'- AAGCACTCTGGACGACGATG -3'
Sequencing Primer
(F):5'- GGGTTTTCTCCCGCCGC -3'
(R):5'- ACTCTGGACGACGATGTGTGC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation