Incidental Mutation 'R1127:Pramel29'
ID |
96280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel29
|
Ensembl Gene |
ENSMUSG00000046262 |
Gene Name |
PRAME like 29 |
Synonyms |
C87977 |
MMRRC Submission |
039200-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R1127 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143933332-143939587 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 143933694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 471
(T471I)
|
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105754
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105755
AA Change: T301I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101381 Gene: ENSMUSG00000046262 AA Change: T301I
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
52 |
250 |
9e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105757
AA Change: T471I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101383 Gene: ENSMUSG00000046262 AA Change: T471I
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 |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 80.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,019,403 (GRCm39) |
D179G |
probably benign |
Het |
Aadacl2fm2 |
G |
A |
3: 59,659,314 (GRCm39) |
E256K |
probably benign |
Het |
Adh7 |
C |
T |
3: 137,927,490 (GRCm39) |
A12V |
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,767,399 (GRCm39) |
N1179K |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,511,336 (GRCm39) |
T344A |
probably benign |
Het |
Aplf |
T |
C |
6: 87,623,273 (GRCm39) |
T269A |
probably benign |
Het |
Cavin4 |
T |
C |
4: 48,663,637 (GRCm39) |
S6P |
probably damaging |
Het |
Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
A |
T |
19: 39,151,812 (GRCm39) |
N176Y |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,522,253 (GRCm39) |
D3980V |
probably damaging |
Het |
Drc7 |
G |
T |
8: 95,799,416 (GRCm39) |
E530D |
probably damaging |
Het |
Dst |
A |
G |
1: 34,314,358 (GRCm39) |
T6434A |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,759,127 (GRCm39) |
S41P |
possibly damaging |
Het |
Eef1b2 |
G |
A |
1: 63,218,616 (GRCm39) |
|
probably null |
Het |
Eml3 |
C |
T |
19: 8,913,672 (GRCm39) |
T43I |
probably damaging |
Het |
Fam110b |
T |
A |
4: 5,799,434 (GRCm39) |
L284Q |
probably damaging |
Het |
Gpr33 |
A |
C |
12: 52,070,252 (GRCm39) |
H262Q |
probably damaging |
Het |
Igfals |
T |
G |
17: 25,099,455 (GRCm39) |
L182R |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,126,205 (GRCm39) |
F496L |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,569,343 (GRCm39) |
H134Q |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nxn |
A |
T |
11: 76,164,895 (GRCm39) |
C205* |
probably null |
Het |
Oga |
G |
A |
19: 45,740,594 (GRCm39) |
R914* |
probably null |
Het |
Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
Or52h9 |
C |
A |
7: 104,202,293 (GRCm39) |
H56N |
possibly damaging |
Het |
Pamr1 |
A |
T |
2: 102,469,698 (GRCm39) |
I415F |
possibly damaging |
Het |
Ppp4r4 |
G |
A |
12: 103,545,327 (GRCm39) |
G200E |
probably damaging |
Het |
Prdm16 |
C |
A |
4: 154,613,256 (GRCm39) |
S57I |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,362,410 (GRCm39) |
K157R |
possibly damaging |
Het |
Ptprn2 |
G |
A |
12: 117,175,628 (GRCm39) |
|
probably null |
Het |
Pus7 |
G |
A |
5: 23,973,793 (GRCm39) |
H234Y |
probably benign |
Het |
Rd3l |
A |
G |
12: 111,946,717 (GRCm39) |
Y20H |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,386,141 (GRCm39) |
D160G |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,016,159 (GRCm39) |
E768K |
possibly damaging |
Het |
Tango6 |
T |
C |
8: 107,415,527 (GRCm39) |
V116A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,697,574 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Xylb |
T |
C |
9: 119,212,443 (GRCm39) |
I427T |
probably damaging |
Het |
Zc3h7a |
T |
G |
16: 10,956,939 (GRCm39) |
D890A |
probably damaging |
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 |
IGL03174:Pramel29
|
APN |
4 |
143,935,000 (GRCm39) |
missense |
probably benign |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCCATTCACCAGCTCAGAGGAAG -3'
(R):5'- GCCTGCCCTAAGCCAATTATCTCAC -3'
Sequencing Primer
(F):5'- TAGGTGATTGACATTTTCATGCTCC -3'
(R):5'- CACCTCAGAGAGGTCAGTTTCTATG -3'
|
Posted On |
2014-01-05 |