Incidental Mutation 'IGL02903:Pramel23'
| ID |
363684 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel23
|
| Ensembl Gene |
ENSMUSG00000070617 |
| Gene Name |
PRAME like 23 |
| Synonyms |
Gm13089 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL02903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143423070-143429281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143425736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 69
(M69K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073532]
|
| AlphaFold |
A2AGW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073532
AA Change: M69K
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: M69K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
343 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
G |
6: 116,397,296 (GRCm39) |
N296T |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,045,004 (GRCm39) |
E301K |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,516,120 (GRCm39) |
S1237G |
probably damaging |
Het |
| Atf6 |
G |
A |
1: 170,627,283 (GRCm39) |
P394S |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
| C4bp |
G |
A |
1: 130,583,722 (GRCm39) |
T82I |
probably damaging |
Het |
| Cask |
A |
T |
X: 13,418,686 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,379,073 (GRCm39) |
S2906T |
probably damaging |
Het |
| Cfl1 |
T |
C |
19: 5,542,828 (GRCm39) |
F103L |
probably benign |
Het |
| Chrnb3 |
A |
T |
8: 27,876,834 (GRCm39) |
T83S |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,949,510 (GRCm39) |
T607A |
probably benign |
Het |
| Cplane1 |
G |
T |
15: 8,299,262 (GRCm39) |
R3150M |
unknown |
Het |
| Cplane1 |
G |
T |
15: 8,299,263 (GRCm39) |
R3150S |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,504,440 (GRCm39) |
|
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,770,307 (GRCm39) |
Y514N |
possibly damaging |
Het |
| Dmrtc1b |
T |
A |
X: 101,757,173 (GRCm39) |
L206Q |
probably benign |
Het |
| Dus3l |
C |
T |
17: 57,075,363 (GRCm39) |
L397F |
probably damaging |
Het |
| Gm6356 |
C |
T |
14: 6,973,735 (GRCm38) |
G27E |
probably damaging |
Het |
| Hkdc1 |
C |
T |
10: 62,235,970 (GRCm39) |
|
probably null |
Het |
| Jkampl |
A |
G |
6: 73,446,103 (GRCm39) |
Y149H |
probably damaging |
Het |
| Kcmf1 |
A |
T |
6: 72,835,866 (GRCm39) |
V21E |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,648,480 (GRCm39) |
T75S |
possibly damaging |
Het |
| Lemd2 |
A |
G |
17: 27,412,184 (GRCm39) |
|
probably benign |
Het |
| Magee1 |
G |
T |
X: 104,166,945 (GRCm39) |
R910L |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,307,092 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,823,639 (GRCm39) |
E207V |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,917 (GRCm39) |
S75P |
probably damaging |
Het |
| Or7a38 |
A |
G |
10: 78,753,250 (GRCm39) |
D192G |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,180,217 (GRCm39) |
V1026A |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,953,870 (GRCm39) |
L942P |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,883,387 (GRCm39) |
L45Q |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,502,447 (GRCm39) |
T824A |
possibly damaging |
Het |
| Rfwd3 |
T |
C |
8: 112,004,861 (GRCm39) |
T574A |
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,835,885 (GRCm39) |
S308P |
probably damaging |
Het |
| Shisal2b |
T |
A |
13: 105,000,118 (GRCm39) |
Y35F |
probably benign |
Het |
| Smr2 |
A |
T |
5: 88,256,489 (GRCm39) |
I56F |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,831,607 (GRCm39) |
R873H |
probably damaging |
Het |
|
| Other mutations in Pramel23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01720:Pramel23
|
APN |
4 |
143,423,410 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02087:Pramel23
|
APN |
4 |
143,423,644 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02296:Pramel23
|
APN |
4 |
143,425,051 (GRCm39) |
nonsense |
probably null |
|
|
IGL02902:Pramel23
|
APN |
4 |
143,424,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02962:Pramel23
|
APN |
4 |
143,423,910 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03351:Pramel23
|
APN |
4 |
143,423,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0122:Pramel23
|
UTSW |
4 |
143,424,974 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0533:Pramel23
|
UTSW |
4 |
143,424,590 (GRCm39) |
nonsense |
probably null |
|
|
R0609:Pramel23
|
UTSW |
4 |
143,425,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0743:Pramel23
|
UTSW |
4 |
143,425,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0744:Pramel23
|
UTSW |
4 |
143,425,056 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0833:Pramel23
|
UTSW |
4 |
143,425,056 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1052:Pramel23
|
UTSW |
4 |
143,423,477 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1690:Pramel23
|
UTSW |
4 |
143,424,693 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1764:Pramel23
|
UTSW |
4 |
143,424,840 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1896:Pramel23
|
UTSW |
4 |
143,424,714 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2084:Pramel23
|
UTSW |
4 |
143,425,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2178:Pramel23
|
UTSW |
4 |
143,424,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2888:Pramel23
|
UTSW |
4 |
143,423,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3759:Pramel23
|
UTSW |
4 |
143,423,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Pramel23
|
UTSW |
4 |
143,424,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4380:Pramel23
|
UTSW |
4 |
143,424,856 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4385:Pramel23
|
UTSW |
4 |
143,424,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4513:Pramel23
|
UTSW |
4 |
143,424,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Pramel23
|
UTSW |
4 |
143,425,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4920:Pramel23
|
UTSW |
4 |
143,425,853 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4994:Pramel23
|
UTSW |
4 |
143,424,939 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5197:Pramel23
|
UTSW |
4 |
143,424,632 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6005:Pramel23
|
UTSW |
4 |
143,425,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6073:Pramel23
|
UTSW |
4 |
143,424,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6197:Pramel23
|
UTSW |
4 |
143,423,886 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6264:Pramel23
|
UTSW |
4 |
143,425,722 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6821:Pramel23
|
UTSW |
4 |
143,425,874 (GRCm39) |
nonsense |
probably null |
|
|
R6923:Pramel23
|
UTSW |
4 |
143,425,676 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7034:Pramel23
|
UTSW |
4 |
143,423,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7140:Pramel23
|
UTSW |
4 |
143,425,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7298:Pramel23
|
UTSW |
4 |
143,425,075 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7529:Pramel23
|
UTSW |
4 |
143,429,244 (GRCm39) |
|
|
|
|
R7766:Pramel23
|
UTSW |
4 |
143,425,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7774:Pramel23
|
UTSW |
4 |
143,423,676 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7816:Pramel23
|
UTSW |
4 |
143,424,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8137:Pramel23
|
UTSW |
4 |
143,425,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Pramel23
|
UTSW |
4 |
143,423,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Pramel23
|
UTSW |
4 |
143,424,886 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9016:Pramel23
|
UTSW |
4 |
143,423,899 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9100:Pramel23
|
UTSW |
4 |
143,425,727 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9200:Pramel23
|
UTSW |
4 |
143,423,856 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9257:Pramel23
|
UTSW |
4 |
143,425,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9471:Pramel23
|
UTSW |
4 |
143,423,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Pramel23
|
UTSW |
4 |
143,424,930 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Pramel23
|
UTSW |
4 |
143,424,650 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Pramel23
|
UTSW |
4 |
143,423,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation