Incidental Mutation 'R9734:Pramel30'
| ID |
731600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel30
|
| Ensembl Gene |
ENSMUSG00000078508 |
| Gene Name |
PRAME like 30 |
| Synonyms |
Gm13128 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144056819-144060035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144057737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 115
(M115V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105751]
|
| AlphaFold |
L7MU96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105751
AA Change: M115V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101377
Gene: ENSMUSG00000078508
AA Change: M115V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
205 |
408 |
6e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
A |
4: 152,345,474 (GRCm39) |
V348E |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,763,199 (GRCm39) |
L1270P |
probably damaging |
Het |
| Akap12 |
C |
T |
10: 4,305,929 (GRCm39) |
T1018M |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Bod1l |
A |
T |
5: 41,962,573 (GRCm39) |
D2721E |
possibly damaging |
Het |
| Bri3bp |
G |
T |
5: 125,518,736 (GRCm39) |
R4L |
unknown |
Het |
| Cnbd2 |
T |
A |
2: 156,180,540 (GRCm39) |
N241K |
possibly damaging |
Het |
| Cpne2 |
A |
G |
8: 95,295,228 (GRCm39) |
I438V |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,962 (GRCm39) |
T732A |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dbt |
T |
C |
3: 116,339,704 (GRCm39) |
V364A |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
| Fsip1 |
T |
A |
2: 118,070,916 (GRCm39) |
Q258L |
probably benign |
Het |
| Gabrg3 |
A |
G |
7: 56,634,908 (GRCm39) |
Y92H |
probably damaging |
Het |
| Grid1 |
C |
A |
14: 35,302,742 (GRCm39) |
D1002E |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,726,605 (GRCm39) |
C565* |
probably null |
Het |
| Iqce |
G |
T |
5: 140,678,564 (GRCm39) |
R127S |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,682,320 (GRCm39) |
E1095D |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Mmp25 |
C |
T |
17: 23,850,834 (GRCm39) |
V367M |
possibly damaging |
Het |
| Mucl3 |
T |
A |
17: 35,949,233 (GRCm39) |
D122V |
probably benign |
Het |
| Or10d4c |
T |
C |
9: 39,558,202 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,584,239 (GRCm39) |
I167N |
probably benign |
Het |
| Rusc1 |
A |
T |
3: 88,996,496 (GRCm39) |
S696T |
probably damaging |
Het |
| Scamp2 |
T |
G |
9: 57,490,175 (GRCm39) |
F225V |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,064,560 (GRCm39) |
H210R |
possibly damaging |
Het |
| Vil1 |
T |
C |
1: 74,454,309 (GRCm39) |
I24T |
possibly damaging |
Het |
| Vmn1r218 |
T |
A |
13: 23,321,034 (GRCm39) |
L127H |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,492 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,757 (GRCm39) |
T332S |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
probably damaging |
Het |
|
| Other mutations in Pramel30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0097:Pramel30
|
UTSW |
4 |
144,057,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1743:Pramel30
|
UTSW |
4 |
144,059,575 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3079:Pramel30
|
UTSW |
4 |
144,058,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3948:Pramel30
|
UTSW |
4 |
144,057,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3954:Pramel30
|
UTSW |
4 |
144,058,238 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4448:Pramel30
|
UTSW |
4 |
144,059,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5008:Pramel30
|
UTSW |
4 |
144,057,836 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5715:Pramel30
|
UTSW |
4 |
144,057,870 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5986:Pramel30
|
UTSW |
4 |
144,059,323 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6008:Pramel30
|
UTSW |
4 |
144,057,777 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6278:Pramel30
|
UTSW |
4 |
144,056,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6383:Pramel30
|
UTSW |
4 |
144,059,717 (GRCm39) |
makesense |
probably null |
|
|
R6523:Pramel30
|
UTSW |
4 |
144,058,218 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6747:Pramel30
|
UTSW |
4 |
144,059,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7276:Pramel30
|
UTSW |
4 |
144,059,216 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7555:Pramel30
|
UTSW |
4 |
144,059,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8213:Pramel30
|
UTSW |
4 |
144,057,030 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8498:Pramel30
|
UTSW |
4 |
144,058,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8801:Pramel30
|
UTSW |
4 |
144,059,438 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8822:Pramel30
|
UTSW |
4 |
144,057,092 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9443:Pramel30
|
UTSW |
4 |
144,059,678 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9513:Pramel30
|
UTSW |
4 |
144,059,678 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9542:Pramel30
|
UTSW |
4 |
144,057,095 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9691:Pramel30
|
UTSW |
4 |
144,056,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Pramel30
|
UTSW |
4 |
144,057,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTGTATTGGAGACCCAGG -3'
(R):5'- CAACTTCTCGCAGCACAGATG -3'
Sequencing Primer
(F):5'- TATTGGAGACCCAGGACTGAAAACC -3'
(R):5'- GATGCAGGAAACCCTCTCTGTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation