Incidental Mutation 'R6585:Pramel15'
| ID |
524325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel15
|
| Ensembl Gene |
ENSMUSG00000073721 |
| Gene Name |
PRAME like 15 |
| Synonyms |
Pramef20, EG627009, Gm13125 |
| MMRRC Submission |
044709-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144099330-144104503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 144103600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 175
(L175F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121109]
|
| AlphaFold |
B1ARV6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121109
AA Change: L175F
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112488
Gene: ENSMUSG00000073721
AA Change: L175F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
222 |
409 |
1e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,885,534 (GRCm39) |
C108Y |
probably damaging |
Het |
| Adam1b |
G |
T |
5: 121,639,250 (GRCm39) |
D598E |
probably benign |
Het |
| Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
| Chd1l |
A |
G |
3: 97,505,088 (GRCm39) |
F160L |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
| Defa38 |
A |
G |
8: 21,585,248 (GRCm39) |
C65R |
possibly damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Elp2 |
T |
C |
18: 24,758,606 (GRCm39) |
L503S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
| H2bc18 |
A |
T |
3: 96,177,413 (GRCm39) |
T116S |
probably benign |
Het |
| Kcnj1 |
T |
C |
9: 32,308,557 (GRCm39) |
V307A |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,552,314 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,484,521 (GRCm39) |
Y367* |
probably null |
Het |
| Ms4a14 |
T |
A |
19: 11,281,009 (GRCm39) |
Q516H |
unknown |
Het |
| Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
| Or13c3 |
A |
T |
4: 52,856,192 (GRCm39) |
M107K |
possibly damaging |
Het |
| Or5ae1 |
A |
T |
7: 84,565,670 (GRCm39) |
I228F |
probably damaging |
Het |
| Park7 |
G |
T |
4: 150,989,721 (GRCm39) |
Q80K |
probably benign |
Het |
| Pramel52-ps |
C |
T |
5: 94,529,415 (GRCm39) |
P62S |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
| Rprd1a |
T |
C |
18: 24,639,720 (GRCm39) |
|
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,579,420 (GRCm39) |
E73G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,006,251 (GRCm39) |
W138R |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,354,124 (GRCm39) |
E838G |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,926 (GRCm39) |
L1165F |
probably damaging |
Het |
| Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly damaging |
Het |
|
| Other mutations in Pramel15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01403:Pramel15
|
APN |
4 |
144,103,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01516:Pramel15
|
APN |
4 |
144,104,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02655:Pramel15
|
APN |
4 |
144,099,416 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02983:Pramel15
|
APN |
4 |
144,099,697 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0201:Pramel15
|
UTSW |
4 |
144,103,843 (GRCm39) |
splice site |
probably benign |
|
|
R1882:Pramel15
|
UTSW |
4 |
144,103,485 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4440:Pramel15
|
UTSW |
4 |
144,099,437 (GRCm39) |
missense |
probably benign |
|
|
R4805:Pramel15
|
UTSW |
4 |
144,103,590 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4823:Pramel15
|
UTSW |
4 |
144,099,781 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4925:Pramel15
|
UTSW |
4 |
144,104,502 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5024:Pramel15
|
UTSW |
4 |
144,099,878 (GRCm39) |
nonsense |
probably null |
|
|
R5472:Pramel15
|
UTSW |
4 |
144,103,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6133:Pramel15
|
UTSW |
4 |
144,104,347 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6495:Pramel15
|
UTSW |
4 |
144,103,409 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6732:Pramel15
|
UTSW |
4 |
144,099,743 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7048:Pramel15
|
UTSW |
4 |
144,103,754 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7165:Pramel15
|
UTSW |
4 |
144,099,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7469:Pramel15
|
UTSW |
4 |
144,099,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8873:Pramel15
|
UTSW |
4 |
144,099,871 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8891:Pramel15
|
UTSW |
4 |
144,099,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8909:Pramel15
|
UTSW |
4 |
144,103,553 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9597:Pramel15
|
UTSW |
4 |
144,103,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGAGAGCAAGTTTACGC -3'
(R):5'- GATTTACGGTCTGTGGGACAAAAC -3'
Sequencing Primer
(F):5'- CAAGTTCCTCATTTGGCGCAAG -3'
(R):5'- AAAACTATTTGAATGTGTGGCCTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation