Incidental Mutation 'R4114:Pramel29'
ID |
314542 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel29
|
Ensembl Gene |
ENSMUSG00000046262 |
Gene Name |
PRAME like 29 |
Synonyms |
C87977 |
MMRRC Submission |
040990-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R4114 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143933332-143939587 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 143936173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 29
(L29H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105753]
[ENSMUST00000105754]
[ENSMUST00000105755]
[ENSMUST00000105757]
[ENSMUST00000146836]
[ENSMUST00000147855]
|
AlphaFold |
A2A958 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105753
AA Change: L27H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105754
AA Change: L27H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105755
|
SMART Domains |
Protein: ENSMUSP00000101381 Gene: ENSMUSG00000046262
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
52 |
250 |
9e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105757
AA Change: L27H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101383 Gene: ENSMUSG00000046262 AA Change: L27H
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 damaging
Transcript: ENSMUST00000147855
AA Change: L29H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.4999 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
T |
G |
11: 117,693,793 (GRCm39) |
S87A |
probably damaging |
Het |
Abca16 |
T |
C |
7: 120,126,290 (GRCm39) |
F1149L |
probably benign |
Het |
Abcf1 |
A |
T |
17: 36,270,146 (GRCm39) |
D637E |
probably benign |
Het |
Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,256,819 (GRCm39) |
|
probably null |
Het |
Cep44 |
T |
C |
8: 56,998,457 (GRCm39) |
T74A |
probably benign |
Het |
Colq |
T |
A |
14: 31,279,824 (GRCm39) |
M1L |
probably benign |
Het |
Cym |
A |
T |
3: 107,127,065 (GRCm39) |
L30Q |
probably damaging |
Het |
Dpp6 |
T |
A |
5: 27,674,485 (GRCm39) |
|
probably null |
Het |
Gbe1 |
G |
T |
16: 70,280,715 (GRCm39) |
G372V |
possibly damaging |
Het |
Hdc |
T |
A |
2: 126,443,738 (GRCm39) |
M314L |
probably benign |
Het |
Ino80b |
A |
G |
6: 83,101,121 (GRCm39) |
S149P |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
Nlrp4a |
T |
G |
7: 26,149,365 (GRCm39) |
F324C |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,593 (GRCm39) |
|
probably null |
Het |
Or6c6c |
T |
C |
10: 129,541,668 (GRCm39) |
L307S |
probably benign |
Het |
Or8u9 |
A |
T |
2: 86,001,759 (GRCm39) |
V134D |
possibly damaging |
Het |
Pcdhb3 |
A |
G |
18: 37,435,093 (GRCm39) |
N353S |
probably benign |
Het |
Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
Ryr2 |
C |
T |
13: 11,707,568 (GRCm39) |
R2823H |
probably damaging |
Het |
Scart2 |
T |
C |
7: 139,877,823 (GRCm39) |
V935A |
probably damaging |
Het |
Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
Slc7a1 |
T |
C |
5: 148,278,867 (GRCm39) |
T302A |
probably damaging |
Het |
Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
Trim5 |
A |
G |
7: 103,914,947 (GRCm39) |
L374P |
probably damaging |
Het |
Tspan18 |
C |
A |
2: 93,142,291 (GRCm39) |
|
probably null |
Het |
Vmn2r37 |
T |
A |
7: 9,213,092 (GRCm39) |
|
probably null |
Het |
Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
Zfp35 |
A |
C |
18: 24,135,766 (GRCm39) |
I37L |
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 |
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 |
|
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 |
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'- ATAGCCTTCAAAGTCTCCAGGTTG -3'
(R):5'- ATCGAGGGTGATCAAATTGGTAAAC -3'
Sequencing Primer
(F):5'- TCTGCTTCCCTAAAGAAAGGTATGGG -3'
(R):5'- ACTGAGTTCTCTATCCTAATCGGTAG -3'
|
Posted On |
2015-05-14 |