Incidental Mutation 'R2389:Pramel31'
ID |
247732 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel31
|
Ensembl Gene |
ENSMUSG00000070619 |
Gene Name |
PRAME like 31 |
Synonyms |
Gm13119 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2389 (G1)
|
Quality Score |
111 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
144084534-144090989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 144089983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 341
(L341H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094526]
|
AlphaFold |
B1ARV5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094526
AA Change: L341H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000092103 Gene: ENSMUSG00000070619 AA Change: L341H
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
210 |
414 |
3e-10 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
T |
C |
2: 158,467,132 (GRCm39) |
V24A |
probably benign |
Het |
Adrm1 |
C |
A |
2: 179,816,116 (GRCm39) |
|
probably benign |
Het |
Cdk13 |
T |
A |
13: 17,926,361 (GRCm39) |
H813L |
probably damaging |
Het |
Cdkal1 |
T |
A |
13: 29,736,219 (GRCm39) |
H300L |
probably damaging |
Het |
Cnksr1 |
T |
C |
4: 133,961,057 (GRCm39) |
I235V |
probably benign |
Het |
Ctnnd1 |
T |
A |
2: 84,454,615 (GRCm39) |
Q11L |
probably null |
Het |
Dync2h1 |
T |
C |
9: 7,122,618 (GRCm39) |
I2113V |
possibly damaging |
Het |
Eng |
T |
C |
2: 32,547,684 (GRCm39) |
|
probably null |
Het |
Gria2 |
A |
G |
3: 80,609,932 (GRCm39) |
W626R |
probably damaging |
Het |
Kctd1 |
A |
G |
18: 15,195,268 (GRCm39) |
S452P |
possibly damaging |
Het |
Kdm4c |
T |
C |
4: 74,252,107 (GRCm39) |
|
probably null |
Het |
Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Nat8f7 |
C |
A |
6: 85,684,476 (GRCm39) |
M121I |
probably benign |
Het |
Ppfibp1 |
A |
T |
6: 146,923,669 (GRCm39) |
H667L |
probably damaging |
Het |
Prss12 |
A |
G |
3: 123,280,670 (GRCm39) |
N452D |
possibly damaging |
Het |
Rab17 |
T |
C |
1: 90,891,926 (GRCm39) |
T33A |
probably benign |
Het |
Rxfp3 |
A |
G |
15: 11,036,770 (GRCm39) |
C201R |
probably damaging |
Het |
Spag17 |
A |
G |
3: 100,014,153 (GRCm39) |
Y2142C |
probably benign |
Het |
Stx6 |
T |
C |
1: 155,073,164 (GRCm39) |
V225A |
possibly damaging |
Het |
Ugt2b5 |
G |
A |
5: 87,275,541 (GRCm39) |
P437S |
probably damaging |
Het |
Usp13 |
A |
G |
3: 32,959,613 (GRCm39) |
K568R |
probably benign |
Het |
Zan |
A |
G |
5: 137,474,642 (GRCm39) |
|
probably null |
Het |
Zbtb8b |
T |
C |
4: 129,327,066 (GRCm39) |
E33G |
probably benign |
Het |
Zcchc17 |
T |
A |
4: 130,220,997 (GRCm39) |
K185* |
probably null |
Het |
|
Other mutations in Pramel31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Pramel31
|
APN |
4 |
144,089,100 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL00485:Pramel31
|
APN |
4 |
144,090,012 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01025:Pramel31
|
APN |
4 |
144,089,947 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01102:Pramel31
|
APN |
4 |
144,090,195 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01631:Pramel31
|
APN |
4 |
144,089,015 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02228:Pramel31
|
APN |
4 |
144,089,231 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02708:Pramel31
|
APN |
4 |
144,089,983 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02827:Pramel31
|
APN |
4 |
144,090,331 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03398:Pramel31
|
APN |
4 |
144,090,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R0403:Pramel31
|
UTSW |
4 |
144,089,216 (GRCm39) |
missense |
probably benign |
0.00 |
R0627:Pramel31
|
UTSW |
4 |
144,089,416 (GRCm39) |
missense |
probably benign |
0.03 |
R0632:Pramel31
|
UTSW |
4 |
144,090,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Pramel31
|
UTSW |
4 |
144,088,295 (GRCm39) |
missense |
probably benign |
0.01 |
R1895:Pramel31
|
UTSW |
4 |
144,088,435 (GRCm39) |
missense |
probably benign |
0.11 |
R1946:Pramel31
|
UTSW |
4 |
144,088,435 (GRCm39) |
missense |
probably benign |
0.11 |
R2263:Pramel31
|
UTSW |
4 |
144,090,111 (GRCm39) |
missense |
probably benign |
0.00 |
R2435:Pramel31
|
UTSW |
4 |
144,089,473 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3013:Pramel31
|
UTSW |
4 |
144,089,025 (GRCm39) |
missense |
probably damaging |
0.98 |
R3021:Pramel31
|
UTSW |
4 |
144,088,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R3106:Pramel31
|
UTSW |
4 |
144,088,246 (GRCm39) |
missense |
probably benign |
0.04 |
R5237:Pramel31
|
UTSW |
4 |
144,089,041 (GRCm39) |
nonsense |
probably null |
|
R5411:Pramel31
|
UTSW |
4 |
144,088,207 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5532:Pramel31
|
UTSW |
4 |
144,090,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Pramel31
|
UTSW |
4 |
144,090,199 (GRCm39) |
missense |
probably benign |
0.03 |
R6277:Pramel31
|
UTSW |
4 |
144,090,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R6625:Pramel31
|
UTSW |
4 |
144,090,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R6717:Pramel31
|
UTSW |
4 |
144,089,227 (GRCm39) |
missense |
probably benign |
0.00 |
R7103:Pramel31
|
UTSW |
4 |
144,090,297 (GRCm39) |
missense |
probably benign |
0.00 |
R7207:Pramel31
|
UTSW |
4 |
144,088,473 (GRCm39) |
missense |
probably benign |
0.08 |
R8934:Pramel31
|
UTSW |
4 |
144,090,345 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9325:Pramel31
|
UTSW |
4 |
144,089,093 (GRCm39) |
missense |
probably benign |
|
R9411:Pramel31
|
UTSW |
4 |
144,089,997 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Pramel31
|
UTSW |
4 |
144,089,543 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGACAGTGACTCACGAC -3'
(R):5'- ACAGACGTGGAGATGTCATTG -3'
Sequencing Primer
(F):5'- ATGTGGTCTCTCCTACTCTAGATTAG -3'
(R):5'- TGTCACAGAAGTTGACCTCG -3'
|
Posted On |
2014-11-11 |