Incidental Mutation 'R1077:Pramel7'
| ID |
85674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel7
|
| Ensembl Gene |
ENSMUSG00000025839 |
| Gene Name |
preferentially expressed antigen in melanoma like 7 |
| Synonyms |
|
| MMRRC Submission |
039163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R1077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87489087-87497093 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87491190 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 167
(L167S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026957]
|
| AlphaFold |
Q810Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026957
AA Change: L167S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: L167S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
207 |
407 |
3e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148030
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
T |
C |
9: 114,301,702 (GRCm38) |
|
noncoding transcript |
Het |
| Apob |
A |
G |
12: 8,006,017 (GRCm38) |
K1500E |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,573,262 (GRCm38) |
Y225* |
probably null |
Het |
| Cdc25c |
A |
T |
18: 34,748,973 (GRCm38) |
|
probably benign |
Het |
| Ceacam15 |
T |
C |
7: 16,672,075 (GRCm38) |
N184D |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,996,479 (GRCm38) |
S508P |
probably damaging |
Het |
| Dhx34 |
A |
G |
7: 16,218,368 (GRCm38) |
S111P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,164,167 (GRCm38) |
E759G |
probably damaging |
Het |
| Fis1 |
G |
A |
5: 136,965,146 (GRCm38) |
A28T |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 55,990,542 (GRCm38) |
|
probably null |
Het |
| Gm15293 |
T |
A |
8: 21,202,433 (GRCm38) |
F90Y |
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,454,527 (GRCm38) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,473,810 (GRCm38) |
H228Q |
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,752,338 (GRCm38) |
V368I |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 75,956,231 (GRCm38) |
E728G |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 100,015,937 (GRCm38) |
M71L |
probably benign |
Het |
| Lrrc7 |
T |
G |
3: 158,161,143 (GRCm38) |
D987A |
probably damaging |
Het |
| Naalad2 |
C |
T |
9: 18,347,506 (GRCm38) |
R491Q |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,167,499 (GRCm38) |
|
probably benign |
Het |
| Prkci |
A |
G |
3: 31,050,192 (GRCm38) |
D568G |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,351,075 (GRCm38) |
T32I |
possibly damaging |
Het |
| Ric8b |
T |
A |
10: 84,970,717 (GRCm38) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,485,998 (GRCm38) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,064,249 (GRCm38) |
V1433A |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 110,367,172 (GRCm38) |
|
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
| Sfta2 |
T |
C |
17: 35,650,127 (GRCm38) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 23,878,450 (GRCm38) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 45,288,202 (GRCm38) |
C314Y |
probably benign |
Het |
| Smpd4 |
T |
C |
16: 17,623,969 (GRCm38) |
V35A |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 42,014,490 (GRCm38) |
D1182G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,042,035 (GRCm38) |
I5056V |
possibly damaging |
Het |
| Tex14 |
T |
C |
11: 87,519,745 (GRCm38) |
|
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,427,055 (GRCm38) |
T229A |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,234,149 (GRCm38) |
C394* |
probably null |
Het |
| Ttk |
T |
A |
9: 83,844,149 (GRCm38) |
|
probably benign |
Het |
| Vmn2r26 |
G |
A |
6: 124,053,913 (GRCm38) |
V536I |
probably benign |
Het |
| Wac |
A |
G |
18: 7,921,916 (GRCm38) |
T553A |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,850,685 (GRCm38) |
H180Q |
probably damaging |
Het |
| Wdr33 |
A |
G |
18: 31,835,461 (GRCm38) |
H235R |
probably benign |
Het |
|
| Other mutations in Pramel7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Pramel7
|
APN |
2 |
87,491,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01302:Pramel7
|
APN |
2 |
87,491,373 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
IGL01365:Pramel7
|
APN |
2 |
87,491,413 (GRCm38) |
splice site |
probably benign |
|
|
IGL01728:Pramel7
|
APN |
2 |
87,491,330 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01769:Pramel7
|
APN |
2 |
87,489,588 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL01932:Pramel7
|
APN |
2 |
87,491,113 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02971:Pramel7
|
APN |
2 |
87,490,073 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03376:Pramel7
|
APN |
2 |
87,489,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03380:Pramel7
|
APN |
2 |
87,491,372 (GRCm38) |
missense |
probably benign |
0.38 |
|
R0625:Pramel7
|
UTSW |
2 |
87,491,008 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1455:Pramel7
|
UTSW |
2 |
87,489,723 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1666:Pramel7
|
UTSW |
2 |
87,492,403 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1863:Pramel7
|
UTSW |
2 |
87,491,331 (GRCm38) |
missense |
probably benign |
0.35 |
|
R1977:Pramel7
|
UTSW |
2 |
87,491,121 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2141:Pramel7
|
UTSW |
2 |
87,489,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3027:Pramel7
|
UTSW |
2 |
87,491,403 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4374:Pramel7
|
UTSW |
2 |
87,490,071 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4735:Pramel7
|
UTSW |
2 |
87,490,843 (GRCm38) |
nonsense |
probably null |
|
|
R5232:Pramel7
|
UTSW |
2 |
87,489,976 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6255:Pramel7
|
UTSW |
2 |
87,489,663 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6611:Pramel7
|
UTSW |
2 |
87,490,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6898:Pramel7
|
UTSW |
2 |
87,489,726 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7246:Pramel7
|
UTSW |
2 |
87,492,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7293:Pramel7
|
UTSW |
2 |
87,492,362 (GRCm38) |
missense |
probably benign |
0.28 |
|
R7408:Pramel7
|
UTSW |
2 |
87,490,845 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7431:Pramel7
|
UTSW |
2 |
87,489,938 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7469:Pramel7
|
UTSW |
2 |
87,491,404 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8300:Pramel7
|
UTSW |
2 |
87,489,623 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8803:Pramel7
|
UTSW |
2 |
87,490,061 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8940:Pramel7
|
UTSW |
2 |
87,491,268 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9281:Pramel7
|
UTSW |
2 |
87,491,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9723:Pramel7
|
UTSW |
2 |
87,489,675 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGTTTGGACAGATTCCCCAC -3'
(R):5'- TTCAGATGCAGCTCAGGCAAGG -3'
Sequencing Primer
(F):5'- GGACAGATTCCCCACTGTATTCAG -3'
(R):5'- GGATGCACAGCATCATGCTTC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation