Incidental Mutation 'R4558:Pramel13'
| ID |
342940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel13
|
| Ensembl Gene |
ENSMUSG00000028591 |
| Gene Name |
PRAME like 13 |
| Synonyms |
4930569K13Rik, Pramef12 |
| MMRRC Submission |
042005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4558 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144118244-144135034 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 144122542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030326]
[ENSMUST00000123854]
|
| AlphaFold |
Q9D2F1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030326
AA Change: M1V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030326
Gene: ENSMUSG00000028591
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
414 |
7e-12 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123854
AA Change: M1V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.9165 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Acot11 |
T |
C |
4: 106,605,563 (GRCm39) |
N583S |
probably damaging |
Het |
| Alox12 |
T |
G |
11: 70,143,889 (GRCm39) |
M164L |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,884,851 (GRCm39) |
M279K |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,825,670 (GRCm39) |
T502A |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,352,742 (GRCm39) |
Y188F |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,557,799 (GRCm39) |
Y790C |
possibly damaging |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,968,963 (GRCm39) |
S37N |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,297 (GRCm39) |
S3677P |
possibly damaging |
Het |
| Gm10764 |
A |
G |
10: 87,126,682 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
T |
C |
17: 35,647,291 (GRCm39) |
V312A |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,422,190 (GRCm39) |
D972V |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 33,807,578 (GRCm39) |
T2597I |
possibly damaging |
Het |
| Kng1 |
C |
A |
16: 22,896,168 (GRCm39) |
|
probably null |
Het |
| Med13 |
T |
C |
11: 86,189,880 (GRCm39) |
T1010A |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
| Ncapg |
A |
T |
5: 45,833,986 (GRCm39) |
T341S |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
| Pcdhb4 |
A |
G |
18: 37,443,017 (GRCm39) |
I776V |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,573,192 (GRCm39) |
V697A |
probably benign |
Het |
| Psd4 |
G |
A |
2: 24,294,806 (GRCm39) |
V789M |
probably damaging |
Het |
| Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,338,482 (GRCm39) |
E139V |
probably benign |
Het |
| Sgsm1 |
G |
A |
5: 113,405,977 (GRCm39) |
|
probably benign |
Het |
| Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,978,404 (GRCm39) |
M423V |
unknown |
Het |
| Vmn1r207 |
A |
G |
13: 22,910,581 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Pramel13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Pramel13
|
APN |
4 |
144,121,310 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01107:Pramel13
|
APN |
4 |
144,119,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01935:Pramel13
|
APN |
4 |
144,119,172 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02436:Pramel13
|
APN |
4 |
144,119,539 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02491:Pramel13
|
APN |
4 |
144,121,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02744:Pramel13
|
APN |
4 |
144,119,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03338:Pramel13
|
APN |
4 |
144,121,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0005:Pramel13
|
UTSW |
4 |
144,122,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:Pramel13
|
UTSW |
4 |
144,121,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1611:Pramel13
|
UTSW |
4 |
144,119,382 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1667:Pramel13
|
UTSW |
4 |
144,119,606 (GRCm39) |
nonsense |
probably null |
|
|
R2017:Pramel13
|
UTSW |
4 |
144,121,244 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2290:Pramel13
|
UTSW |
4 |
144,121,692 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2290:Pramel13
|
UTSW |
4 |
144,121,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2310:Pramel13
|
UTSW |
4 |
144,119,475 (GRCm39) |
splice site |
probably null |
|
|
R2912:Pramel13
|
UTSW |
4 |
144,119,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Pramel13
|
UTSW |
4 |
144,119,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5162:Pramel13
|
UTSW |
4 |
144,121,482 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5521:Pramel13
|
UTSW |
4 |
144,122,541 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5530:Pramel13
|
UTSW |
4 |
144,119,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5669:Pramel13
|
UTSW |
4 |
144,122,413 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6032:Pramel13
|
UTSW |
4 |
144,119,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6032:Pramel13
|
UTSW |
4 |
144,119,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6314:Pramel13
|
UTSW |
4 |
144,121,157 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6322:Pramel13
|
UTSW |
4 |
144,119,475 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6431:Pramel13
|
UTSW |
4 |
144,119,653 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7729:Pramel13
|
UTSW |
4 |
144,119,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Pramel13
|
UTSW |
4 |
144,122,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8778:Pramel13
|
UTSW |
4 |
144,119,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Pramel13
|
UTSW |
4 |
144,122,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Pramel13
|
UTSW |
4 |
144,122,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCATCTTCCTCAGGATG -3'
(R):5'- GGGTGGAAGCACAATACACTTC -3'
Sequencing Primer
(F):5'- GCACCATCTTCCTCAGGATGTTAAG -3'
(R):5'- GCTTCCTTGGAGCATATTTCAAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation