Incidental Mutation 'IGL02052:Pramel21'
| ID |
185099 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel21
|
| Ensembl Gene |
ENSMUSG00000066688 |
| Gene Name |
PRAME like 21 |
| Synonyms |
Gm13083 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL02052
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143341573-143345165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 143341643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 24
(D24A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105773]
|
| AlphaFold |
A2AGW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105773
AA Change: D24A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101399
Gene: ENSMUSG00000066688
AA Change: D24A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
431 |
7e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120556
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef37 |
C |
T |
18: 61,632,839 (GRCm39) |
V533M |
probably damaging |
Het |
| Bicd2 |
A |
G |
13: 49,532,665 (GRCm39) |
D343G |
possibly damaging |
Het |
| Ccl26 |
C |
T |
5: 135,592,193 (GRCm39) |
S48N |
possibly damaging |
Het |
| Cdkn1b |
A |
T |
6: 134,897,970 (GRCm39) |
R30* |
probably null |
Het |
| Cds1 |
G |
T |
5: 101,962,338 (GRCm39) |
V318L |
probably benign |
Het |
| Ceacam11 |
A |
G |
7: 17,707,548 (GRCm39) |
S111G |
probably benign |
Het |
| Cntn1 |
A |
C |
15: 92,189,584 (GRCm39) |
I636L |
possibly damaging |
Het |
| Cog2 |
G |
A |
8: 125,269,627 (GRCm39) |
|
probably null |
Het |
| Cyp2g1 |
G |
A |
7: 26,513,719 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
T |
C |
5: 120,763,783 (GRCm39) |
V644A |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 30,990,743 (GRCm39) |
Q3192R |
probably damaging |
Het |
| Dyrk2 |
T |
G |
10: 118,696,448 (GRCm39) |
H270P |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,590,256 (GRCm39) |
T3A |
probably benign |
Het |
| Fam120a |
G |
A |
13: 49,087,421 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
A |
G |
10: 53,573,216 (GRCm39) |
|
probably benign |
Het |
| Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
| Gaa |
A |
G |
11: 119,175,021 (GRCm39) |
Y874C |
possibly damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,152,567 (GRCm39) |
I169N |
probably damaging |
Het |
| Gm13734 |
T |
C |
2: 86,966,665 (GRCm39) |
|
probably null |
Het |
| Gnb1 |
T |
C |
4: 155,618,148 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
G |
T |
1: 53,965,670 (GRCm39) |
F385L |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,079,368 (GRCm39) |
V277M |
probably damaging |
Het |
| Mogat2 |
A |
T |
7: 98,887,771 (GRCm39) |
M1K |
probably null |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,042 (GRCm39) |
W259R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,303,553 (GRCm39) |
L410S |
probably damaging |
Het |
| Ntn4 |
T |
G |
10: 93,543,211 (GRCm39) |
N312K |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,637,983 (GRCm39) |
V365A |
possibly damaging |
Het |
| Pde4c |
A |
G |
8: 71,201,062 (GRCm39) |
N420S |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,064,541 (GRCm39) |
R1911H |
probably damaging |
Het |
| Rnf19b |
A |
G |
4: 128,965,613 (GRCm39) |
H237R |
probably damaging |
Het |
| Slfn4 |
T |
C |
11: 83,077,800 (GRCm39) |
L196P |
possibly damaging |
Het |
| Steap2 |
G |
T |
5: 5,723,586 (GRCm39) |
F431L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,072,493 (GRCm39) |
E2680G |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,884,394 (GRCm39) |
I96N |
probably damaging |
Het |
| Trim34a |
T |
G |
7: 103,897,038 (GRCm39) |
V34G |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,133,573 (GRCm39) |
|
probably benign |
Het |
| Usp29 |
A |
C |
7: 6,965,525 (GRCm39) |
H456P |
probably benign |
Het |
| Wdfy1 |
A |
G |
1: 79,692,661 (GRCm39) |
S219P |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,600 (GRCm39) |
S117R |
possibly damaging |
Het |
|
| Other mutations in Pramel21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R5603:Pramel21
|
UTSW |
4 |
143,344,066 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation