Incidental Mutation 'R6409:Pramel19'
| ID |
514769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel19
|
| Ensembl Gene |
ENSMUSG00000070890 |
| Gene Name |
PRAME like 19 |
| Synonyms |
Gm12794 |
| MMRRC Submission |
044554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
101797604-101800380 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 101797874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 91
(Q91*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052027]
|
| AlphaFold |
L7MTS5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052027
AA Change: Q91*
|
| SMART Domains |
Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: Q91*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
257 |
409 |
9e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
T |
11: 119,902,558 (GRCm39) |
Q556K |
probably benign |
Het |
| Adgrf3 |
A |
G |
5: 30,402,312 (GRCm39) |
V572A |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,986,938 (GRCm39) |
V2741M |
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,721,676 (GRCm39) |
V2043A |
probably benign |
Het |
| B3glct |
C |
T |
5: 149,658,916 (GRCm39) |
R239C |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,259,189 (GRCm39) |
V626E |
probably damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,863,800 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,803,354 (GRCm39) |
N1563D |
probably benign |
Het |
| Duox2 |
G |
C |
2: 122,115,148 (GRCm39) |
H1110D |
probably damaging |
Het |
| Inppl1 |
A |
T |
7: 101,478,168 (GRCm39) |
F648I |
probably damaging |
Het |
| Mefv |
C |
A |
16: 3,528,657 (GRCm39) |
|
probably null |
Het |
| Ms4a4b |
T |
C |
19: 11,438,724 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
T |
C |
5: 148,014,425 (GRCm39) |
V406A |
probably benign |
Het |
| Nup88 |
T |
C |
11: 70,835,798 (GRCm39) |
R554G |
probably null |
Het |
| Or1x2 |
A |
G |
11: 50,918,015 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or4d10 |
C |
T |
19: 12,052,111 (GRCm39) |
|
probably benign |
Het |
| Or8h8 |
A |
T |
2: 86,753,515 (GRCm39) |
Y120* |
probably null |
Het |
| Pde10a |
A |
G |
17: 9,168,270 (GRCm39) |
D246G |
probably damaging |
Het |
| Pmm1 |
T |
C |
15: 81,845,008 (GRCm39) |
T9A |
probably benign |
Het |
| Psg18 |
T |
C |
7: 18,087,446 (GRCm39) |
M71V |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,008,581 (GRCm39) |
H253R |
probably benign |
Het |
| Rfc4 |
T |
C |
16: 22,932,823 (GRCm39) |
*371W |
probably null |
Het |
| Rgs18 |
T |
A |
1: 144,650,931 (GRCm39) |
K17* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sertm1 |
T |
C |
3: 54,806,788 (GRCm39) |
Y79C |
probably benign |
Het |
| Sfrp1 |
T |
C |
8: 23,907,394 (GRCm39) |
I198T |
possibly damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,582,232 (GRCm39) |
I254F |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,697,826 (GRCm39) |
D93G |
probably damaging |
Het |
| Smo |
T |
C |
6: 29,736,113 (GRCm39) |
L35S |
unknown |
Het |
| Tbc1d8 |
A |
G |
1: 39,411,669 (GRCm39) |
S1056P |
probably benign |
Het |
| Ttll9 |
A |
G |
2: 152,841,261 (GRCm39) |
D286G |
probably damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,096 (GRCm39) |
Y607H |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,297,189 (GRCm39) |
C564S |
probably benign |
Het |
| Zc3h12d |
A |
G |
10: 7,743,082 (GRCm39) |
H284R |
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,362,585 (GRCm39) |
S79T |
probably damaging |
Het |
|
| Other mutations in Pramel19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Pramel19
|
APN |
4 |
101,798,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01360:Pramel19
|
APN |
4 |
101,797,665 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01837:Pramel19
|
APN |
4 |
101,798,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01870:Pramel19
|
APN |
4 |
101,797,887 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02040:Pramel19
|
APN |
4 |
101,798,331 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03264:Pramel19
|
APN |
4 |
101,798,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0033:Pramel19
|
UTSW |
4 |
101,798,881 (GRCm39) |
missense |
probably benign |
|
|
R0334:Pramel19
|
UTSW |
4 |
101,798,781 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0846:Pramel19
|
UTSW |
4 |
101,798,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Pramel19
|
UTSW |
4 |
101,798,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1464:Pramel19
|
UTSW |
4 |
101,798,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1774:Pramel19
|
UTSW |
4 |
101,797,655 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1888:Pramel19
|
UTSW |
4 |
101,798,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1888:Pramel19
|
UTSW |
4 |
101,798,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4510:Pramel19
|
UTSW |
4 |
101,798,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4511:Pramel19
|
UTSW |
4 |
101,798,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4890:Pramel19
|
UTSW |
4 |
101,798,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4960:Pramel19
|
UTSW |
4 |
101,798,661 (GRCm39) |
missense |
probably benign |
|
|
R5043:Pramel19
|
UTSW |
4 |
101,797,721 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5297:Pramel19
|
UTSW |
4 |
101,798,348 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5780:Pramel19
|
UTSW |
4 |
101,798,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Pramel19
|
UTSW |
4 |
101,798,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6452:Pramel19
|
UTSW |
4 |
101,798,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7619:Pramel19
|
UTSW |
4 |
101,798,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8460:Pramel19
|
UTSW |
4 |
101,798,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9202:Pramel19
|
UTSW |
4 |
101,797,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Pramel19
|
UTSW |
4 |
101,798,322 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGATCTGGAGGACCTG -3'
(R):5'- CTACTTGTACTCTGAGCGATCCTG -3'
Sequencing Primer
(F):5'- ATCTGGAGGACCTGCCCATC -3'
(R):5'- GAGCGATCCTGATCTATGACTGTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation