Incidental Mutation 'R5118:Pramel34'
| ID |
392732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel34
|
| Ensembl Gene |
ENSMUSG00000070686 |
| Gene Name |
PRAME like 34 |
| Synonyms |
C87414 |
| MMRRC Submission |
042706-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R5118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
93783041-93819368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93785656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 208
(D208V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076321]
[ENSMUST00000159578]
[ENSMUST00000160382]
[ENSMUST00000162964]
|
| AlphaFold |
E9PWI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076321
|
| SMART Domains |
Protein: ENSMUSP00000075662
Gene: ENSMUSG00000070686
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
67 |
191 |
1e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159691
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161919
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162964
AA Change: D208V
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000124780
Gene: ENSMUSG00000070686
AA Change: D208V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
199 |
388 |
1e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adamts2 |
A |
G |
11: 50,672,696 (GRCm39) |
E648G |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,492,473 (GRCm39) |
S187G |
probably benign |
Het |
| Cd44 |
C |
A |
2: 102,695,715 (GRCm39) |
E52D |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,814,204 (GRCm39) |
I603F |
unknown |
Het |
| Dmxl2 |
C |
A |
9: 54,368,271 (GRCm39) |
R233L |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,388,312 (GRCm39) |
F429L |
probably damaging |
Het |
| Epsti1 |
T |
G |
14: 78,224,122 (GRCm39) |
|
probably null |
Het |
| Erfe |
G |
T |
1: 91,298,438 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
A |
G |
2: 57,905,015 (GRCm39) |
D526G |
probably damaging |
Het |
| Gatd1 |
A |
T |
7: 140,986,719 (GRCm39) |
|
probably benign |
Het |
| Gm1330 |
T |
C |
2: 148,844,906 (GRCm39) |
|
probably benign |
Het |
| Gm6181 |
G |
A |
7: 52,405,364 (GRCm39) |
|
noncoding transcript |
Het |
| Irak2 |
T |
A |
6: 113,642,772 (GRCm39) |
V68D |
probably benign |
Het |
| Kdm1a |
A |
G |
4: 136,284,669 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
C |
A |
12: 25,042,296 (GRCm39) |
Q198K |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,244 (GRCm39) |
V728A |
possibly damaging |
Het |
| Micall2 |
G |
A |
5: 139,702,202 (GRCm39) |
T347M |
probably damaging |
Het |
| Mrap2 |
T |
C |
9: 87,064,756 (GRCm39) |
F166L |
possibly damaging |
Het |
| Msh3 |
A |
T |
13: 92,445,942 (GRCm39) |
|
probably benign |
Het |
| Mul1 |
T |
A |
4: 138,166,660 (GRCm39) |
L238Q |
probably damaging |
Het |
| Nuak1 |
G |
T |
10: 84,210,848 (GRCm39) |
H413Q |
probably benign |
Het |
| Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,248,002 (GRCm39) |
A931T |
probably damaging |
Het |
| Pramel20 |
T |
C |
4: 143,297,697 (GRCm39) |
L39P |
probably damaging |
Het |
| Psmb4 |
T |
C |
3: 94,792,253 (GRCm39) |
Y223C |
probably damaging |
Het |
| Rbm15b |
G |
T |
9: 106,763,301 (GRCm39) |
A289E |
possibly damaging |
Het |
| Reg3b |
T |
A |
6: 78,349,111 (GRCm39) |
V79E |
probably damaging |
Het |
| Rsl1 |
A |
G |
13: 67,330,045 (GRCm39) |
I164M |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,250,285 (GRCm39) |
F217L |
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,512,727 (GRCm39) |
L360P |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,248,822 (GRCm39) |
V611A |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,542,293 (GRCm39) |
D1935E |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,093,044 (GRCm39) |
|
probably null |
Het |
| Tmppe |
T |
G |
9: 114,234,549 (GRCm39) |
S283A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,171,485 (GRCm39) |
|
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,707,760 (GRCm39) |
I552T |
unknown |
Het |
| Tspan2 |
C |
A |
3: 102,657,151 (GRCm39) |
D45E |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,377,489 (GRCm39) |
D966E |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,712,745 (GRCm39) |
E1396G |
probably benign |
Het |
| Usp17lc |
A |
T |
7: 103,067,868 (GRCm39) |
T388S |
probably benign |
Het |
| Wdr46 |
T |
C |
17: 34,167,811 (GRCm39) |
V508A |
possibly damaging |
Het |
| Zfp462 |
T |
A |
4: 55,010,667 (GRCm39) |
Y878N |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp954 |
T |
A |
7: 7,118,714 (GRCm39) |
T277S |
probably benign |
Het |
|
| Other mutations in Pramel34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Pramel34
|
APN |
5 |
93,784,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Pramel34
|
APN |
5 |
93,784,154 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02735:Pramel34
|
APN |
5 |
93,786,503 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4466001:Pramel34
|
UTSW |
5 |
93,784,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Pramel34
|
UTSW |
5 |
93,785,545 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2071:Pramel34
|
UTSW |
5 |
93,784,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4404:Pramel34
|
UTSW |
5 |
93,785,572 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4606:Pramel34
|
UTSW |
5 |
93,784,461 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4672:Pramel34
|
UTSW |
5 |
93,784,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5056:Pramel34
|
UTSW |
5 |
93,786,784 (GRCm39) |
start gained |
probably benign |
|
|
R5288:Pramel34
|
UTSW |
5 |
93,785,607 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5441:Pramel34
|
UTSW |
5 |
93,784,456 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6190:Pramel34
|
UTSW |
5 |
93,785,937 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6513:Pramel34
|
UTSW |
5 |
93,785,391 (GRCm39) |
splice site |
probably null |
|
|
R7464:Pramel34
|
UTSW |
5 |
93,784,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Pramel34
|
UTSW |
5 |
93,785,887 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7961:Pramel34
|
UTSW |
5 |
93,784,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8130:Pramel34
|
UTSW |
5 |
93,784,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8389:Pramel34
|
UTSW |
5 |
93,785,587 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8725:Pramel34
|
UTSW |
5 |
93,784,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Pramel34
|
UTSW |
5 |
93,785,935 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8812:Pramel34
|
UTSW |
5 |
93,785,660 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8849:Pramel34
|
UTSW |
5 |
93,784,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8930:Pramel34
|
UTSW |
5 |
93,785,944 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8932:Pramel34
|
UTSW |
5 |
93,785,944 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8976:Pramel34
|
UTSW |
5 |
93,785,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9201:Pramel34
|
UTSW |
5 |
93,785,937 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9229:Pramel34
|
UTSW |
5 |
93,784,089 (GRCm39) |
nonsense |
probably null |
|
|
R9287:Pramel34
|
UTSW |
5 |
93,785,969 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9347:Pramel34
|
UTSW |
5 |
93,786,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9536:Pramel34
|
UTSW |
5 |
93,784,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF006:Pramel34
|
UTSW |
5 |
93,784,562 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGTTTCATGAAGATATGCTGG -3'
(R):5'- CGTCTGAAGGTCATAGTCAACC -3'
Sequencing Primer
(F):5'- TGGAGACAGTTGAATTGGGAAAACTG -3'
(R):5'- GGTCATAGTCAACCTGTCAATCAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation