Incidental Mutation 'IGL02098:Pramel25'
| ID |
279656 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel25
|
| Ensembl Gene |
ENSMUSG00000066031 |
| Gene Name |
PRAME like 25 |
| Synonyms |
MGC:91194, Gm13023 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02098
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143515922-143522145 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 143520248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085144]
[ENSMUST00000105770]
[ENSMUST00000149739]
|
| AlphaFold |
A2A8N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085144
AA Change: V164E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082232
Gene: ENSMUSG00000066031
AA Change: V164E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
222 |
420 |
3e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149739
|
| 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 |
|---|
| Adam25 |
C |
T |
8: 41,208,680 (GRCm39) |
P649S |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,786 (GRCm39) |
R788* |
probably null |
Het |
| Ccdc18 |
A |
G |
5: 108,349,977 (GRCm39) |
E1043G |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,250,655 (GRCm39) |
H691Q |
probably damaging |
Het |
| Cts7 |
G |
T |
13: 61,504,343 (GRCm39) |
F73L |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Eef1a2 |
G |
T |
2: 180,794,582 (GRCm39) |
P206T |
probably benign |
Het |
| Gcsh |
G |
T |
8: 117,715,875 (GRCm39) |
S69R |
probably damaging |
Het |
| Gm9989 |
T |
A |
3: 81,829,528 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,719 (GRCm39) |
T42I |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,975,663 (GRCm39) |
Y684C |
probably damaging |
Het |
| Kif6 |
G |
A |
17: 50,177,922 (GRCm39) |
G602D |
probably benign |
Het |
| Klb |
C |
A |
5: 65,537,228 (GRCm39) |
R853S |
probably benign |
Het |
| Mad1l1 |
A |
C |
5: 140,296,344 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,655,768 (GRCm39) |
N1077D |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,183,276 (GRCm39) |
S1858T |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,407,952 (GRCm39) |
E984G |
possibly damaging |
Het |
| Necab1 |
T |
A |
4: 14,955,892 (GRCm39) |
|
probably benign |
Het |
| Nexn |
G |
A |
3: 151,949,540 (GRCm39) |
R253* |
probably null |
Het |
| Npc1l1 |
A |
G |
11: 6,164,581 (GRCm39) |
L1156P |
probably damaging |
Het |
| Or2y1 |
T |
A |
11: 49,386,224 (GRCm39) |
I288N |
probably damaging |
Het |
| Or5ac15 |
A |
T |
16: 58,940,433 (GRCm39) |
|
probably benign |
Het |
| Or5b99 |
A |
G |
19: 12,976,937 (GRCm39) |
I196V |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,187 (GRCm39) |
S217P |
probably damaging |
Het |
| Rassf7 |
T |
C |
7: 140,798,203 (GRCm39) |
S381P |
possibly damaging |
Het |
| Rdh7 |
G |
T |
10: 127,720,607 (GRCm39) |
T255K |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,520,544 (GRCm39) |
I119F |
possibly damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,826,042 (GRCm39) |
F244L |
probably damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,205 (GRCm39) |
S269G |
probably damaging |
Het |
| Teddm2 |
C |
T |
1: 153,726,081 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,611 (GRCm39) |
D1465G |
possibly damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,099,064 (GRCm39) |
S43T |
probably benign |
Het |
|
| Other mutations in Pramel25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Pramel25
|
APN |
4 |
143,521,844 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01621:Pramel25
|
APN |
4 |
143,520,502 (GRCm39) |
missense |
probably benign |
|
|
IGL01777:Pramel25
|
APN |
4 |
143,521,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02075:Pramel25
|
APN |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02148:Pramel25
|
APN |
4 |
143,519,304 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02355:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02828:Pramel25
|
APN |
4 |
143,521,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03102:Pramel25
|
APN |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03234:Pramel25
|
APN |
4 |
143,521,506 (GRCm39) |
missense |
probably benign |
0.33 |
|
BB004:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
BB014:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
K3955:Pramel25
|
UTSW |
4 |
143,521,710 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0054:Pramel25
|
UTSW |
4 |
143,521,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Pramel25
|
UTSW |
4 |
143,520,479 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1227:Pramel25
|
UTSW |
4 |
143,520,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1370:Pramel25
|
UTSW |
4 |
143,521,874 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1709:Pramel25
|
UTSW |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1982:Pramel25
|
UTSW |
4 |
143,521,720 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2292:Pramel25
|
UTSW |
4 |
143,520,446 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3087:Pramel25
|
UTSW |
4 |
143,520,416 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4235:Pramel25
|
UTSW |
4 |
143,521,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4454:Pramel25
|
UTSW |
4 |
143,519,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4504:Pramel25
|
UTSW |
4 |
143,520,553 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4937:Pramel25
|
UTSW |
4 |
143,520,407 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5041:Pramel25
|
UTSW |
4 |
143,520,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5379:Pramel25
|
UTSW |
4 |
143,521,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5399:Pramel25
|
UTSW |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5445:Pramel25
|
UTSW |
4 |
143,521,707 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6059:Pramel25
|
UTSW |
4 |
143,520,550 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6885:Pramel25
|
UTSW |
4 |
143,520,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Pramel25
|
UTSW |
4 |
143,520,563 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7927:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8285:Pramel25
|
UTSW |
4 |
143,520,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8840:Pramel25
|
UTSW |
4 |
143,521,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Pramel25
|
UTSW |
4 |
143,521,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8921:Pramel25
|
UTSW |
4 |
143,519,322 (GRCm39) |
nonsense |
probably null |
|
|
R9128:Pramel25
|
UTSW |
4 |
143,520,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9232:Pramel25
|
UTSW |
4 |
143,520,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9643:Pramel25
|
UTSW |
4 |
143,521,855 (GRCm39) |
nonsense |
probably null |
|
|
R9674:Pramel25
|
UTSW |
4 |
143,520,162 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Pramel25
|
UTSW |
4 |
143,521,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation