Incidental Mutation 'R5601:Pramel51'
| ID |
439037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel51
|
| Ensembl Gene |
ENSMUSG00000066027 |
| Gene Name |
PRAME like 51 |
| Synonyms |
Gm10436 |
| MMRRC Submission |
043153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R5601 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
88142359-88148664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88142817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 267
(D267G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071580]
[ENSMUST00000220521]
[ENSMUST00000222081]
[ENSMUST00000223172]
|
| AlphaFold |
L7N1Y3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071580
AA Change: D462G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: D462G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
247 |
445 |
5e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220521
AA Change: D267G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223172
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
G |
A |
13: 91,931,029 (GRCm39) |
V426I |
probably benign |
Het |
| Asmt |
T |
C |
X: 169,110,127 (GRCm39) |
V212A |
probably damaging |
Het |
| Atn1 |
A |
G |
6: 124,720,191 (GRCm39) |
|
probably null |
Het |
| Auts2 |
G |
T |
5: 131,505,662 (GRCm39) |
|
probably benign |
Het |
| AW551984 |
C |
T |
9: 39,502,563 (GRCm39) |
V672M |
possibly damaging |
Het |
| Bltp3a |
C |
A |
17: 28,103,468 (GRCm39) |
A392D |
probably damaging |
Het |
| Ccdc13 |
G |
A |
9: 121,629,638 (GRCm39) |
Q114* |
probably null |
Het |
| Ces2e |
A |
T |
8: 105,656,126 (GRCm39) |
I146F |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,280,549 (GRCm39) |
K1443E |
probably damaging |
Het |
| Cma2 |
T |
A |
14: 56,211,246 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Cpsf2 |
G |
T |
12: 101,951,614 (GRCm39) |
|
probably null |
Het |
| Cwh43 |
A |
G |
5: 73,575,283 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dram1 |
A |
G |
10: 88,160,629 (GRCm39) |
S231P |
probably damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,883,515 (GRCm39) |
D482G |
probably damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,161 (GRCm39) |
I177T |
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,620,299 (GRCm39) |
T172A |
probably benign |
Het |
| Gm5134 |
G |
A |
10: 75,821,786 (GRCm39) |
V207M |
probably damaging |
Het |
| Hccs |
G |
A |
X: 168,096,597 (GRCm39) |
R203C |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,270,694 (GRCm39) |
F877I |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,292,379 (GRCm39) |
V272A |
unknown |
Het |
| Impact |
C |
T |
18: 13,109,064 (GRCm39) |
T65I |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,166,863 (GRCm39) |
S309P |
probably damaging |
Het |
| Myf6 |
A |
C |
10: 107,330,475 (GRCm39) |
S31A |
probably damaging |
Het |
| Or4n4b |
C |
A |
14: 50,536,318 (GRCm39) |
W149C |
probably damaging |
Het |
| Or8b35 |
C |
G |
9: 37,904,010 (GRCm39) |
T74R |
possibly damaging |
Het |
| P4hb |
T |
A |
11: 120,462,441 (GRCm39) |
E88D |
possibly damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,535,259 (GRCm39) |
C418R |
probably damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Prss58 |
A |
T |
6: 40,874,783 (GRCm39) |
N19K |
possibly damaging |
Het |
| Ptprq |
C |
T |
10: 107,444,291 (GRCm39) |
A1438T |
probably benign |
Het |
| Rfx4 |
A |
T |
10: 84,634,442 (GRCm39) |
T61S |
probably damaging |
Het |
| Sclt1 |
T |
A |
3: 41,685,354 (GRCm39) |
N35Y |
probably benign |
Het |
| Sec24b |
CTG |
CTGGTG |
3: 129,834,483 (GRCm39) |
|
probably benign |
Het |
| Serpinb12 |
T |
C |
1: 106,881,427 (GRCm39) |
I188T |
probably damaging |
Het |
| Slc27a4 |
A |
T |
2: 29,695,672 (GRCm39) |
Y69F |
probably benign |
Het |
| Slc3a1 |
T |
C |
17: 85,340,319 (GRCm39) |
V247A |
probably benign |
Het |
| Slc4a2 |
C |
T |
5: 24,643,772 (GRCm39) |
T854I |
probably benign |
Het |
| Stat5b |
G |
A |
11: 100,674,001 (GRCm39) |
T761M |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,842,717 (GRCm39) |
L563P |
probably damaging |
Het |
| Tbc1d23 |
C |
A |
16: 57,018,672 (GRCm39) |
C283F |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,564,462 (GRCm39) |
N900S |
possibly damaging |
Het |
| Tkfc |
T |
C |
19: 10,571,927 (GRCm39) |
T370A |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,311,604 (GRCm39) |
V1868A |
possibly damaging |
Het |
| Triobp |
T |
A |
15: 78,857,833 (GRCm39) |
W1145R |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,232,025 (GRCm39) |
L675V |
probably damaging |
Het |
| Zfp423 |
T |
C |
8: 88,508,637 (GRCm39) |
E444G |
probably damaging |
Het |
|
| Other mutations in Pramel51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Pramel51
|
APN |
12 |
88,143,882 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01391:Pramel51
|
APN |
12 |
88,145,225 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01432:Pramel51
|
APN |
12 |
88,143,202 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01519:Pramel51
|
APN |
12 |
88,144,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01784:Pramel51
|
APN |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
|
IGL02121:Pramel51
|
APN |
12 |
88,145,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02728:Pramel51
|
APN |
12 |
88,142,792 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0336:Pramel51
|
UTSW |
12 |
88,144,961 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0554:Pramel51
|
UTSW |
12 |
88,144,328 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1279:Pramel51
|
UTSW |
12 |
88,142,650 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1832:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1833:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1900:Pramel51
|
UTSW |
12 |
88,144,030 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2412:Pramel51
|
UTSW |
12 |
88,143,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3040:Pramel51
|
UTSW |
12 |
88,145,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3625:Pramel51
|
UTSW |
12 |
88,142,731 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4078:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4270:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4271:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Pramel51
|
UTSW |
12 |
88,142,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5552:Pramel51
|
UTSW |
12 |
88,145,135 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5881:Pramel51
|
UTSW |
12 |
88,143,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6058:Pramel51
|
UTSW |
12 |
88,143,995 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6488:Pramel51
|
UTSW |
12 |
88,144,357 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6656:Pramel51
|
UTSW |
12 |
88,142,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7307:Pramel51
|
UTSW |
12 |
88,148,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Pramel51
|
UTSW |
12 |
88,143,187 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7544:Pramel51
|
UTSW |
12 |
88,142,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7569:Pramel51
|
UTSW |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
|
R7645:Pramel51
|
UTSW |
12 |
88,143,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Pramel51
|
UTSW |
12 |
88,142,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Pramel51
|
UTSW |
12 |
88,142,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7860:Pramel51
|
UTSW |
12 |
88,143,122 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8113:Pramel51
|
UTSW |
12 |
88,143,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8356:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8456:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8921:Pramel51
|
UTSW |
12 |
88,143,952 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8953:Pramel51
|
UTSW |
12 |
88,144,070 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9112:Pramel51
|
UTSW |
12 |
88,144,055 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9546:Pramel51
|
UTSW |
12 |
88,148,651 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTATCATAGTTCCACAAAACGGC -3'
(R):5'- GGAGATACCCTGAAAACCCTGG -3'
Sequencing Primer
(F):5'- GCAACATTGGGTATGCCGATC -3'
(R):5'- GATACCCTGAAAACCCTGGAATTGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation