Incidental Mutation 'IGL03174:Pramel29'
ID |
411935 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel29
|
Ensembl Gene |
ENSMUSG00000046262 |
Gene Name |
PRAME like 29 |
Synonyms |
C87977 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
IGL03174
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
143933332-143939587 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 143935000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 247
(S247N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105753]
[ENSMUST00000105754]
[ENSMUST00000105755]
[ENSMUST00000105757]
[ENSMUST00000146836]
[ENSMUST00000147855]
|
AlphaFold |
A2A958 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105753
AA Change: S247N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105754
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105755
AA Change: S77N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101381 Gene: ENSMUSG00000046262 AA Change: S77N
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
52 |
250 |
9e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105757
AA Change: S247N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101383 Gene: ENSMUSG00000046262 AA Change: S247N
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
222 |
420 |
1e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132946
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146836
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147855
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,877,752 (GRCm39) |
L703P |
probably benign |
Het |
Abi3bp |
A |
G |
16: 56,435,110 (GRCm39) |
K602R |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,733,744 (GRCm39) |
D622G |
probably damaging |
Het |
Bpifb1 |
T |
A |
2: 154,054,969 (GRCm39) |
L287Q |
probably damaging |
Het |
Brd8 |
T |
C |
18: 34,737,962 (GRCm39) |
E774G |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,487,983 (GRCm39) |
S558P |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,282,666 (GRCm39) |
I781T |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,083,607 (GRCm39) |
R448* |
probably null |
Het |
Dgkb |
A |
T |
12: 38,266,053 (GRCm39) |
I511F |
possibly damaging |
Het |
Fam221b |
T |
C |
4: 43,666,542 (GRCm39) |
E23G |
probably benign |
Het |
Gm17067 |
C |
A |
7: 42,360,100 (GRCm39) |
|
probably null |
Het |
Grin3a |
T |
A |
4: 49,771,107 (GRCm39) |
D555V |
probably damaging |
Het |
Hid1 |
T |
C |
11: 115,251,215 (GRCm39) |
Y107C |
probably damaging |
Het |
Kcnd2 |
A |
G |
6: 21,216,515 (GRCm39) |
D73G |
possibly damaging |
Het |
Kit |
A |
G |
5: 75,767,773 (GRCm39) |
D52G |
probably benign |
Het |
Llgl1 |
G |
T |
11: 60,597,036 (GRCm39) |
R189L |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,296,609 (GRCm39) |
D3315V |
probably damaging |
Het |
Map3k8 |
A |
G |
18: 4,349,247 (GRCm39) |
S24P |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,909,383 (GRCm39) |
L1616P |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,622,789 (GRCm39) |
|
probably benign |
Het |
Or2d2b |
A |
T |
7: 106,705,477 (GRCm39) |
M197K |
probably benign |
Het |
Or5b119 |
A |
G |
19: 13,457,433 (GRCm39) |
M43T |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,954,331 (GRCm39) |
R1595H |
possibly damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,077 (GRCm39) |
D235G |
probably damaging |
Het |
Serpinb6e |
A |
T |
13: 34,020,463 (GRCm39) |
I215N |
probably damaging |
Het |
Sfrp4 |
A |
T |
13: 19,816,377 (GRCm39) |
Q137L |
probably benign |
Het |
Spata31g1 |
T |
C |
4: 42,970,975 (GRCm39) |
Y67H |
probably benign |
Het |
Vmn2r2 |
C |
T |
3: 64,024,544 (GRCm39) |
W679* |
probably null |
Het |
Vps8 |
T |
A |
16: 21,285,213 (GRCm39) |
L398H |
probably damaging |
Het |
Zfp709 |
A |
T |
8: 72,642,870 (GRCm39) |
T99S |
probably benign |
Het |
|
Other mutations in Pramel29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01024:Pramel29
|
APN |
4 |
143,935,045 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02950:Pramel29
|
APN |
4 |
143,939,531 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03178:Pramel29
|
APN |
4 |
143,934,821 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4812001:Pramel29
|
UTSW |
4 |
143,936,086 (GRCm39) |
missense |
probably benign |
|
R0622:Pramel29
|
UTSW |
4 |
143,939,583 (GRCm39) |
unclassified |
probably benign |
|
R0634:Pramel29
|
UTSW |
4 |
143,935,910 (GRCm39) |
critical splice donor site |
probably null |
|
R1127:Pramel29
|
UTSW |
4 |
143,933,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R1341:Pramel29
|
UTSW |
4 |
143,934,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R1697:Pramel29
|
UTSW |
4 |
143,935,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R1827:Pramel29
|
UTSW |
4 |
143,936,180 (GRCm39) |
missense |
probably damaging |
0.99 |
R1857:Pramel29
|
UTSW |
4 |
143,935,091 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2859:Pramel29
|
UTSW |
4 |
143,936,192 (GRCm39) |
missense |
probably benign |
0.11 |
R4063:Pramel29
|
UTSW |
4 |
143,935,265 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4114:Pramel29
|
UTSW |
4 |
143,936,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R4130:Pramel29
|
UTSW |
4 |
143,935,379 (GRCm39) |
missense |
probably damaging |
0.99 |
R4255:Pramel29
|
UTSW |
4 |
143,934,054 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4704:Pramel29
|
UTSW |
4 |
143,935,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Pramel29
|
UTSW |
4 |
143,935,144 (GRCm39) |
missense |
probably damaging |
0.98 |
R5267:Pramel29
|
UTSW |
4 |
143,939,575 (GRCm39) |
unclassified |
probably benign |
|
R5670:Pramel29
|
UTSW |
4 |
143,936,192 (GRCm39) |
missense |
probably benign |
0.11 |
R6149:Pramel29
|
UTSW |
4 |
143,933,983 (GRCm39) |
missense |
probably damaging |
0.98 |
R6508:Pramel29
|
UTSW |
4 |
143,934,171 (GRCm39) |
nonsense |
probably null |
|
R6528:Pramel29
|
UTSW |
4 |
143,935,381 (GRCm39) |
missense |
probably damaging |
0.99 |
R7252:Pramel29
|
UTSW |
4 |
143,939,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7564:Pramel29
|
UTSW |
4 |
143,939,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R7704:Pramel29
|
UTSW |
4 |
143,935,091 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8737:Pramel29
|
UTSW |
4 |
143,935,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R9703:Pramel29
|
UTSW |
4 |
143,939,510 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Pramel29
|
UTSW |
4 |
143,934,031 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2016-08-02 |