Incidental Mutation 'IGL01070:Pramel5'
| ID |
50853 |
| 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 # |
IGL01070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143997203-144007036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 143997842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 467
(Y467S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035757]
[ENSMUST00000105752]
|
| AlphaFold |
Q7TPY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035757
AA Change: Y467S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: Y467S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
224 |
411 |
1e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105752
AA Change: Y467S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: Y467S
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,660,021 (GRCm39) |
H757R |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,842,842 (GRCm39) |
E487V |
possibly damaging |
Het |
| Bicd2 |
T |
C |
13: 49,531,792 (GRCm39) |
S271P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cma1 |
A |
G |
14: 56,180,154 (GRCm39) |
S71P |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,158,370 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,993,913 (GRCm39) |
K191R |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,724,927 (GRCm39) |
V507I |
probably benign |
Het |
| Fam178b |
C |
T |
1: 36,603,484 (GRCm39) |
R489Q |
possibly damaging |
Het |
| Kcnj4 |
A |
G |
15: 79,368,780 (GRCm39) |
L400P |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,491,907 (GRCm39) |
Y411H |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,101,156 (GRCm39) |
I78L |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,317,516 (GRCm39) |
D1377G |
probably damaging |
Het |
| Prkg1 |
G |
A |
19: 30,546,743 (GRCm39) |
|
probably benign |
Het |
| Rbfox1 |
A |
C |
16: 7,124,307 (GRCm39) |
S219R |
possibly damaging |
Het |
| Rfng |
T |
C |
11: 120,674,778 (GRCm39) |
N71D |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,461 (GRCm39) |
I1884V |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,305,483 (GRCm39) |
Y939N |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,979 (GRCm39) |
V322A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,433,619 (GRCm39) |
S1455P |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,208,965 (GRCm39) |
R703W |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 29,904,185 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,306,299 (GRCm39) |
D43G |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,054,750 (GRCm39) |
M685K |
probably benign |
Het |
| Trac |
A |
G |
14: 54,458,223 (GRCm39) |
T82A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,861 (GRCm39) |
N1295S |
probably damaging |
Het |
| Ttc36 |
T |
C |
9: 44,712,887 (GRCm39) |
|
probably null |
Het |
| Utp18 |
A |
T |
11: 93,760,674 (GRCm39) |
S384T |
possibly damaging |
Het |
| Vmn1r64 |
C |
A |
7: 5,886,941 (GRCm39) |
A201S |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,566 (GRCm39) |
I714F |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,262,268 (GRCm39) |
V626D |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,467,579 (GRCm39) |
|
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
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 |
|
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 |
|
IGL02868:Pramel5
|
APN |
4 |
143,997,922 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2013-06-21 |
Incidental Mutation