Incidental Mutation 'IGL02868:Pramel5'
| ID |
362395 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel5
|
| Ensembl Gene |
ENSMUSG00000036749 |
| Gene Name |
PRAME like 5 |
| Synonyms |
OTTMUSG00000010540 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
IGL02868
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143997203-144007036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 143997922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 440
(N440K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035757]
[ENSMUST00000105752]
|
| AlphaFold |
Q7TPY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035757
AA Change: N440K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: N440K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
224 |
411 |
1e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105752
AA Change: N440K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: N440K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
224 |
411 |
1e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144127
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap4 |
A |
G |
X: 72,944,008 (GRCm39) |
I224T |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,621,639 (GRCm39) |
D758G |
probably damaging |
Het |
| Clca3b |
C |
A |
3: 144,533,325 (GRCm39) |
G569V |
probably damaging |
Het |
| Dlgap4 |
G |
A |
2: 156,542,816 (GRCm39) |
R73Q |
probably damaging |
Het |
| Efcc1 |
C |
T |
6: 87,728,743 (GRCm39) |
|
probably benign |
Het |
| Eno3 |
T |
A |
11: 70,552,826 (GRCm39) |
V369E |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,222,425 (GRCm39) |
C1022* |
probably null |
Het |
| Grhl3 |
T |
C |
4: 135,281,915 (GRCm39) |
D319G |
probably damaging |
Het |
| Huwe1 |
G |
A |
X: 150,691,829 (GRCm39) |
R2538H |
possibly damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,965 (GRCm39) |
L2001H |
probably benign |
Het |
| Ms4a4d |
T |
A |
19: 11,527,646 (GRCm39) |
I51N |
probably damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,761,588 (GRCm39) |
N522S |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,966 (GRCm39) |
I133T |
probably damaging |
Het |
| Ninl |
A |
G |
2: 150,778,974 (GRCm39) |
Y1296H |
probably benign |
Het |
| Nipal3 |
A |
G |
4: 135,194,182 (GRCm39) |
S284P |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,250,838 (GRCm39) |
F153I |
possibly damaging |
Het |
| Or5g9 |
A |
T |
2: 85,551,919 (GRCm39) |
T57S |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,765,572 (GRCm39) |
V12A |
probably benign |
Het |
| Rbm5 |
G |
T |
9: 107,626,899 (GRCm39) |
|
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,653,626 (GRCm39) |
E155G |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,954,507 (GRCm39) |
M897K |
probably benign |
Het |
| Slc39a8 |
G |
T |
3: 135,561,787 (GRCm39) |
A169S |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Synrg |
G |
A |
11: 83,877,876 (GRCm39) |
|
probably benign |
Het |
| Tas2r107 |
T |
C |
6: 131,636,249 (GRCm39) |
T267A |
probably benign |
Het |
| Tead3 |
G |
T |
17: 28,552,069 (GRCm39) |
Y354* |
probably null |
Het |
| Trim3 |
T |
C |
7: 105,262,239 (GRCm39) |
K579R |
possibly damaging |
Het |
| Uaca |
A |
T |
9: 60,770,919 (GRCm39) |
K362M |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,316 (GRCm39) |
I658T |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,884,665 (GRCm39) |
P3113S |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,738,734 (GRCm39) |
S115P |
probably damaging |
Het |
| Zfp683 |
G |
A |
4: 133,783,177 (GRCm39) |
V214M |
probably benign |
Het |
|
| Other mutations in Pramel5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Pramel5
|
APN |
4 |
143,998,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Pramel5
|
APN |
4 |
144,000,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01070:Pramel5
|
APN |
4 |
143,997,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01298:Pramel5
|
APN |
4 |
143,997,732 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01653:Pramel5
|
APN |
4 |
144,000,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02150:Pramel5
|
APN |
4 |
143,999,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02278:Pramel5
|
APN |
4 |
143,998,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02671:Pramel5
|
APN |
4 |
143,999,682 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02981:Pramel5
|
APN |
4 |
143,999,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0532:Pramel5
|
UTSW |
4 |
143,999,310 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0646:Pramel5
|
UTSW |
4 |
143,998,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1328:Pramel5
|
UTSW |
4 |
143,998,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Pramel5
|
UTSW |
4 |
144,000,433 (GRCm39) |
nonsense |
probably null |
|
|
R2027:Pramel5
|
UTSW |
4 |
143,998,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Pramel5
|
UTSW |
4 |
143,999,506 (GRCm39) |
nonsense |
probably null |
|
|
R2439:Pramel5
|
UTSW |
4 |
144,000,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3922:Pramel5
|
UTSW |
4 |
143,999,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4470:Pramel5
|
UTSW |
4 |
143,997,915 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4808:Pramel5
|
UTSW |
4 |
143,999,325 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4969:Pramel5
|
UTSW |
4 |
143,998,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Pramel5
|
UTSW |
4 |
143,998,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5198:Pramel5
|
UTSW |
4 |
144,000,064 (GRCm39) |
intron |
probably benign |
|
|
R5930:Pramel5
|
UTSW |
4 |
143,999,553 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5988:Pramel5
|
UTSW |
4 |
143,999,716 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6662:Pramel5
|
UTSW |
4 |
143,999,675 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6988:Pramel5
|
UTSW |
4 |
144,000,577 (GRCm39) |
start gained |
probably benign |
|
|
R7116:Pramel5
|
UTSW |
4 |
144,000,451 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7638:Pramel5
|
UTSW |
4 |
143,998,010 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8247:Pramel5
|
UTSW |
4 |
143,999,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Pramel5
|
UTSW |
4 |
143,999,529 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9049:Pramel5
|
UTSW |
4 |
144,000,486 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9402:Pramel5
|
UTSW |
4 |
143,998,026 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9632:Pramel5
|
UTSW |
4 |
143,999,545 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9710:Pramel5
|
UTSW |
4 |
143,999,545 (GRCm39) |
missense |
probably benign |
0.15 |
|
X0028:Pramel5
|
UTSW |
4 |
143,999,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Pramel5
|
UTSW |
4 |
144,000,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation