Incidental Mutation 'R4404:Pramel34'
ID |
326756 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel34
|
Ensembl Gene |
ENSMUSG00000070686 |
Gene Name |
PRAME like 34 |
Synonyms |
C87414 |
MMRRC Submission |
041133-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R4404 (G1)
|
Quality Score |
172 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
93783041-93819368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 93785572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 236
(H236L)
|
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 |
possibly damaging
Transcript: ENSMUST00000162964
AA Change: H236L
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124780 Gene: ENSMUSG00000070686 AA Change: H236L
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
199 |
388 |
1e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc188 |
A |
G |
16: 18,036,284 (GRCm39) |
Q153R |
probably damaging |
Het |
Cimap3 |
G |
A |
3: 105,908,684 (GRCm39) |
P7L |
probably benign |
Het |
Dop1a |
T |
A |
9: 86,404,866 (GRCm39) |
L1721* |
probably null |
Het |
Fcsk |
T |
A |
8: 111,616,933 (GRCm39) |
T406S |
probably benign |
Het |
Fer |
A |
T |
17: 64,248,284 (GRCm39) |
|
probably null |
Het |
Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
Gria4 |
A |
T |
9: 4,464,489 (GRCm39) |
|
probably null |
Het |
Gtf3c4 |
T |
C |
2: 28,716,761 (GRCm39) |
D813G |
probably damaging |
Het |
Hars2 |
G |
T |
18: 36,918,989 (GRCm39) |
C83F |
probably damaging |
Het |
Htr6 |
A |
G |
4: 138,789,513 (GRCm39) |
S251P |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,236,972 (GRCm39) |
T1070A |
probably benign |
Het |
Il22ra1 |
A |
T |
4: 135,464,742 (GRCm39) |
E149D |
possibly damaging |
Het |
Lama3 |
G |
A |
18: 12,715,588 (GRCm39) |
M1681I |
probably benign |
Het |
Loxhd1 |
G |
A |
18: 77,518,828 (GRCm39) |
G1878D |
probably damaging |
Het |
Mcc |
G |
A |
18: 44,892,365 (GRCm39) |
T83M |
probably benign |
Het |
Nol11 |
A |
T |
11: 107,064,551 (GRCm39) |
C468S |
probably damaging |
Het |
Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
Npy5r |
C |
T |
8: 67,134,644 (GRCm39) |
V50I |
probably benign |
Het |
Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
Pam |
T |
C |
1: 97,782,446 (GRCm39) |
|
probably benign |
Het |
Pank4 |
C |
T |
4: 155,064,613 (GRCm39) |
T724I |
probably benign |
Het |
Sertm1 |
C |
T |
3: 54,806,746 (GRCm39) |
C93Y |
probably damaging |
Het |
Slc22a2 |
A |
G |
17: 12,833,651 (GRCm39) |
T444A |
probably damaging |
Het |
Trpm7 |
C |
A |
2: 126,675,635 (GRCm39) |
L489F |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,877,511 (GRCm39) |
T511A |
probably benign |
Het |
Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
probably null |
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 |
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 |
|
R5118:Pramel34
|
UTSW |
5 |
93,785,656 (GRCm39) |
missense |
probably benign |
0.03 |
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'- TGTACCTGACCCAGATCTCC -3'
(R):5'- GCCAAGCAGAGAATAGGATCCC -3'
Sequencing Primer
(F):5'- AGATCTCCATTCTTGCTTACCCTAGG -3'
(R):5'- CTGCTGTATAAAGATGAGGATCTGG -3'
|
Posted On |
2015-07-07 |