Incidental Mutation 'R1690:Pramel23'
ID |
191708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel23
|
Ensembl Gene |
ENSMUSG00000070617 |
Gene Name |
PRAME like 23 |
Synonyms |
Gm13089 |
MMRRC Submission |
039723-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R1690 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143423070-143429281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143424693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 250
(E250G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073532]
|
AlphaFold |
A2AGW7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073532
AA Change: E250G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000073224 Gene: ENSMUSG00000070617 AA Change: E250G
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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
G |
7: 28,610,950 (GRCm39) |
S263P |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,347,494 (GRCm39) |
E403G |
probably damaging |
Het |
Adgrg7 |
A |
T |
16: 56,615,993 (GRCm39) |
V11E |
probably damaging |
Het |
Arhgap35 |
A |
G |
7: 16,297,206 (GRCm39) |
C620R |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,739,505 (GRCm39) |
|
probably null |
Het |
Cfap54 |
A |
G |
10: 92,871,304 (GRCm39) |
S639P |
possibly damaging |
Het |
Csf2rb |
T |
C |
15: 78,232,844 (GRCm39) |
V717A |
probably benign |
Het |
D17H6S53E |
A |
G |
17: 35,346,188 (GRCm39) |
D33G |
possibly damaging |
Het |
Dpf2 |
C |
T |
19: 5,955,490 (GRCm39) |
R131Q |
probably damaging |
Het |
Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fgf15 |
A |
G |
7: 144,453,665 (GRCm39) |
S213G |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,355,827 (GRCm39) |
F756Y |
unknown |
Het |
Hnrnpk |
T |
A |
13: 58,548,168 (GRCm39) |
T13S |
probably benign |
Het |
Htr3b |
T |
A |
9: 48,848,394 (GRCm39) |
M284L |
possibly damaging |
Het |
Itgal |
T |
C |
7: 126,901,289 (GRCm39) |
M225T |
possibly damaging |
Het |
Lipi |
A |
G |
16: 75,338,013 (GRCm39) |
Y454H |
probably damaging |
Het |
Lrit3 |
T |
C |
3: 129,594,394 (GRCm39) |
K61R |
probably damaging |
Het |
Lta4h |
A |
G |
10: 93,320,554 (GRCm39) |
D583G |
probably benign |
Het |
Mettl17 |
T |
A |
14: 52,128,918 (GRCm39) |
V396D |
probably damaging |
Het |
Nlrc4 |
G |
A |
17: 74,744,518 (GRCm39) |
R788* |
probably null |
Het |
Or8k25 |
T |
A |
2: 86,244,298 (GRCm39) |
I33F |
probably benign |
Het |
Pepd |
G |
A |
7: 34,730,782 (GRCm39) |
G278D |
probably damaging |
Het |
Prkcsh |
T |
A |
9: 21,921,871 (GRCm39) |
D245E |
probably damaging |
Het |
Prlr |
A |
T |
15: 10,317,676 (GRCm39) |
D84V |
probably damaging |
Het |
Pth2r |
C |
T |
1: 65,411,462 (GRCm39) |
T333I |
probably benign |
Het |
Ptk2 |
T |
A |
15: 73,134,459 (GRCm39) |
I547F |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,925,732 (GRCm39) |
S162T |
probably damaging |
Het |
Rnf41 |
C |
A |
10: 128,271,329 (GRCm39) |
Q80K |
possibly damaging |
Het |
Scn7a |
T |
G |
2: 66,506,287 (GRCm39) |
D1534A |
probably damaging |
Het |
Septin12 |
A |
G |
16: 4,806,378 (GRCm39) |
V261A |
probably damaging |
Het |
Sh2d4a |
T |
C |
8: 68,747,101 (GRCm39) |
S110P |
probably benign |
Het |
Soat1 |
A |
T |
1: 156,272,144 (GRCm39) |
S114T |
probably benign |
Het |
Taar8a |
A |
G |
10: 23,952,813 (GRCm39) |
Y139C |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,777,354 (GRCm39) |
|
probably null |
Het |
Tmem202 |
T |
A |
9: 59,426,391 (GRCm39) |
R258S |
possibly damaging |
Het |
Ttc39b |
A |
T |
4: 83,145,414 (GRCm39) |
I604N |
probably damaging |
Het |
Vit |
A |
G |
17: 78,932,294 (GRCm39) |
D467G |
probably damaging |
Het |
Zc3hc1 |
A |
G |
6: 30,390,940 (GRCm39) |
V21A |
probably damaging |
Het |
Zfp608 |
T |
A |
18: 55,120,706 (GRCm39) |
I294F |
possibly damaging |
Het |
Zfp825 |
T |
A |
13: 74,628,781 (GRCm39) |
H227L |
probably benign |
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 |
IGL02903:Pramel23
|
APN |
4 |
143,425,736 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGAGCCCATCTTCCCTGATATGC -3'
(R):5'- GGGCAGCCTTGATGAATGTGCTAC -3'
Sequencing Primer
(F):5'- CATCATGGACTCCCTAGCG -3'
(R):5'- GATTCAGGGCTCAATCAACG -3'
|
Posted On |
2014-05-14 |