Incidental Mutation 'R5603:Pramel21'
| ID |
458048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel21
|
| Ensembl Gene |
ENSMUSG00000066688 |
| Gene Name |
PRAME like 21 |
| Synonyms |
Gm13083 |
| MMRRC Submission |
043155-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5603 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143341573-143345165 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 143344066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 455
(C455*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105773]
|
| AlphaFold |
A2AGW5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105773
AA Change: C455*
|
| SMART Domains |
Protein: ENSMUSP00000101399
Gene: ENSMUSG00000066688
AA Change: C455*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
431 |
7e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
A |
G |
5: 144,202,787 (GRCm39) |
S509P |
probably damaging |
Het |
| Bud31 |
T |
C |
5: 145,081,769 (GRCm39) |
I52T |
possibly damaging |
Het |
| Cacna1g |
C |
T |
11: 94,330,578 (GRCm39) |
S979N |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,221,246 (GRCm39) |
W253R |
probably damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,330 (GRCm39) |
Y118H |
probably damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,721,497 (GRCm39) |
T71A |
probably benign |
Het |
| Chaf1b |
A |
G |
16: 93,689,683 (GRCm39) |
T19A |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,432,603 (GRCm39) |
V850D |
probably damaging |
Het |
| Cpsf2 |
C |
A |
12: 101,964,890 (GRCm39) |
Q513K |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,420,078 (GRCm39) |
V3792G |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Exoc6b |
T |
C |
6: 84,812,126 (GRCm39) |
D625G |
possibly damaging |
Het |
| Gad1 |
C |
A |
2: 70,420,173 (GRCm39) |
F352L |
probably damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,900,395 (GRCm39) |
E162G |
probably damaging |
Het |
| Grm6 |
T |
A |
11: 50,747,786 (GRCm39) |
F333I |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,924,358 (GRCm39) |
F1952L |
probably benign |
Het |
| Ighv1-42 |
C |
T |
12: 114,901,132 (GRCm39) |
|
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,450,706 (GRCm39) |
T578A |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mfsd14b |
T |
C |
13: 65,221,420 (GRCm39) |
K291E |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,564,331 (GRCm39) |
L379P |
probably damaging |
Het |
| Mtmr6 |
A |
T |
14: 60,522,450 (GRCm39) |
K183* |
probably null |
Het |
| Mylk |
A |
G |
16: 34,776,862 (GRCm39) |
N1345S |
probably benign |
Het |
| Nab2 |
A |
T |
10: 127,500,990 (GRCm39) |
M1K |
probably null |
Het |
| Ngly1 |
C |
A |
14: 16,260,762 (GRCm38) |
Q149K |
probably benign |
Het |
| Npy6r |
T |
A |
18: 44,409,652 (GRCm39) |
S358T |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,907,228 (GRCm39) |
T156A |
probably benign |
Het |
| Pik3cd |
A |
T |
4: 149,743,312 (GRCm39) |
C263S |
probably benign |
Het |
| Ptk2b |
A |
T |
14: 66,409,514 (GRCm39) |
Y507* |
probably null |
Het |
| Rbm25 |
C |
T |
12: 83,710,990 (GRCm39) |
R368* |
probably null |
Het |
| Rnf207 |
T |
C |
4: 152,396,851 (GRCm39) |
Y396C |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,506,961 (GRCm39) |
V328E |
possibly damaging |
Het |
| Slc3a2 |
A |
G |
19: 8,691,092 (GRCm39) |
V7A |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,828,575 (GRCm39) |
V265I |
probably benign |
Het |
| Tmem120b |
T |
A |
5: 123,239,705 (GRCm39) |
V108D |
possibly damaging |
Het |
| Ugt1a2 |
T |
C |
1: 88,129,148 (GRCm39) |
Y264H |
probably damaging |
Het |
|
| Other mutations in Pramel21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02052:Pramel21
|
APN |
4 |
143,341,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02390:Pramel21
|
APN |
4 |
143,341,895 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02676:Pramel21
|
APN |
4 |
143,342,667 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03381:Pramel21
|
APN |
4 |
143,343,625 (GRCm39) |
splice site |
probably benign |
|
|
IGL03410:Pramel21
|
APN |
4 |
143,341,851 (GRCm39) |
missense |
probably benign |
0.02 |
|
H8562:Pramel21
|
UTSW |
4 |
143,341,920 (GRCm39) |
splice site |
probably benign |
|
|
PIT4151001:Pramel21
|
UTSW |
4 |
143,342,722 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Pramel21
|
UTSW |
4 |
143,342,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0352:Pramel21
|
UTSW |
4 |
143,342,559 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0494:Pramel21
|
UTSW |
4 |
143,342,726 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0688:Pramel21
|
UTSW |
4 |
143,343,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0884:Pramel21
|
UTSW |
4 |
143,341,754 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1267:Pramel21
|
UTSW |
4 |
143,342,304 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1418:Pramel21
|
UTSW |
4 |
143,342,604 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1761:Pramel21
|
UTSW |
4 |
143,342,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3148:Pramel21
|
UTSW |
4 |
143,344,047 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4063:Pramel21
|
UTSW |
4 |
143,342,559 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4115:Pramel21
|
UTSW |
4 |
143,344,026 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4760:Pramel21
|
UTSW |
4 |
143,343,801 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5516:Pramel21
|
UTSW |
4 |
143,342,253 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5724:Pramel21
|
UTSW |
4 |
143,344,026 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5796:Pramel21
|
UTSW |
4 |
143,341,778 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5879:Pramel21
|
UTSW |
4 |
143,344,161 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6181:Pramel21
|
UTSW |
4 |
143,342,828 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7155:Pramel21
|
UTSW |
4 |
143,342,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7492:Pramel21
|
UTSW |
4 |
143,342,744 (GRCm39) |
missense |
not run |
|
|
R7913:Pramel21
|
UTSW |
4 |
143,341,615 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7995:Pramel21
|
UTSW |
4 |
143,342,570 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8126:Pramel21
|
UTSW |
4 |
143,343,635 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8901:Pramel21
|
UTSW |
4 |
143,343,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9061:Pramel21
|
UTSW |
4 |
143,342,741 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9095:Pramel21
|
UTSW |
4 |
143,341,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Pramel21
|
UTSW |
4 |
143,341,600 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9445:Pramel21
|
UTSW |
4 |
143,343,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Pramel21
|
UTSW |
4 |
143,341,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Pramel21
|
UTSW |
4 |
143,341,802 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1177:Pramel21
|
UTSW |
4 |
143,342,730 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
|
| Posted On |
2017-02-16 |
Incidental Mutation