Incidental Mutation 'IGL01728:Pramel7'
| ID |
105351 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel7
|
| Ensembl Gene |
ENSMUSG00000025839 |
| Gene Name |
PRAME like 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL01728
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
87319432-87322762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 87321674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 120
(E120D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026957]
|
| AlphaFold |
Q810Y8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026957
AA Change: E120D
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: E120D
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
G |
1: 53,221,668 (GRCm39) |
S54P |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,029,074 (GRCm39) |
I71T |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,759,092 (GRCm39) |
M1T |
probably null |
Het |
| Ankib1 |
A |
G |
5: 3,751,992 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
G |
1: 146,707,289 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,087,085 (GRCm39) |
N138S |
possibly damaging |
Het |
| Dock7 |
G |
A |
4: 98,850,568 (GRCm39) |
T1588M |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,051,115 (GRCm39) |
T479I |
probably damaging |
Het |
| Gpn2 |
T |
C |
4: 133,311,813 (GRCm39) |
I15T |
possibly damaging |
Het |
| H3c2 |
G |
A |
13: 23,936,712 (GRCm39) |
R117H |
probably benign |
Het |
| Haao |
A |
G |
17: 84,142,658 (GRCm39) |
F149S |
probably damaging |
Het |
| Iqsec3 |
T |
A |
6: 121,389,623 (GRCm39) |
|
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,373,149 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
C |
A |
12: 84,837,783 (GRCm39) |
S1199I |
probably damaging |
Het |
| Mageb3 |
G |
T |
2: 121,784,941 (GRCm39) |
P254T |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,854,302 (GRCm39) |
P1300S |
probably damaging |
Het |
| Mtfmt |
T |
A |
9: 65,343,100 (GRCm39) |
L2H |
probably damaging |
Het |
| Myo18a |
G |
T |
11: 77,668,682 (GRCm39) |
G181W |
probably damaging |
Het |
| Mzf1 |
T |
C |
7: 12,785,654 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,378,162 (GRCm39) |
L280Q |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,760,736 (GRCm39) |
|
probably null |
Het |
| Or51k2 |
T |
C |
7: 103,595,959 (GRCm39) |
F62S |
probably damaging |
Het |
| Or8b53 |
A |
G |
9: 38,667,391 (GRCm39) |
M136V |
possibly damaging |
Het |
| Parp14 |
A |
G |
16: 35,677,805 (GRCm39) |
V721A |
probably damaging |
Het |
| Pbp2 |
G |
T |
6: 135,287,073 (GRCm39) |
N91K |
probably damaging |
Het |
| Pde7b |
C |
A |
10: 20,310,210 (GRCm39) |
|
probably null |
Het |
| Rbbp5 |
C |
T |
1: 132,425,818 (GRCm39) |
T516M |
probably benign |
Het |
| Slc16a12 |
A |
G |
19: 34,668,071 (GRCm39) |
V28A |
possibly damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,721,802 (GRCm39) |
F276S |
probably damaging |
Het |
| Spata9 |
A |
T |
13: 76,141,193 (GRCm39) |
I147L |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,545,271 (GRCm39) |
Y2429F |
probably damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,312,564 (GRCm39) |
S212P |
probably benign |
Het |
| Unc5cl |
A |
T |
17: 48,766,991 (GRCm39) |
I122F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,131,943 (GRCm39) |
F2350I |
probably damaging |
Het |
|
| Other mutations in Pramel7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Pramel7
|
APN |
2 |
87,321,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01302:Pramel7
|
APN |
2 |
87,321,717 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01365:Pramel7
|
APN |
2 |
87,321,757 (GRCm39) |
splice site |
probably benign |
|
|
IGL01769:Pramel7
|
APN |
2 |
87,319,932 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01932:Pramel7
|
APN |
2 |
87,321,457 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02971:Pramel7
|
APN |
2 |
87,320,417 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03376:Pramel7
|
APN |
2 |
87,319,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Pramel7
|
APN |
2 |
87,321,716 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0625:Pramel7
|
UTSW |
2 |
87,321,352 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1077:Pramel7
|
UTSW |
2 |
87,321,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1455:Pramel7
|
UTSW |
2 |
87,320,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1666:Pramel7
|
UTSW |
2 |
87,322,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1863:Pramel7
|
UTSW |
2 |
87,321,675 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1977:Pramel7
|
UTSW |
2 |
87,321,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2141:Pramel7
|
UTSW |
2 |
87,320,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3027:Pramel7
|
UTSW |
2 |
87,321,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4374:Pramel7
|
UTSW |
2 |
87,320,415 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4735:Pramel7
|
UTSW |
2 |
87,321,187 (GRCm39) |
nonsense |
probably null |
|
|
R5232:Pramel7
|
UTSW |
2 |
87,320,320 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6255:Pramel7
|
UTSW |
2 |
87,320,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6611:Pramel7
|
UTSW |
2 |
87,320,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6898:Pramel7
|
UTSW |
2 |
87,320,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7246:Pramel7
|
UTSW |
2 |
87,322,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7293:Pramel7
|
UTSW |
2 |
87,322,706 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7408:Pramel7
|
UTSW |
2 |
87,321,189 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7431:Pramel7
|
UTSW |
2 |
87,320,282 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7469:Pramel7
|
UTSW |
2 |
87,321,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8300:Pramel7
|
UTSW |
2 |
87,319,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8803:Pramel7
|
UTSW |
2 |
87,320,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8940:Pramel7
|
UTSW |
2 |
87,321,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9281:Pramel7
|
UTSW |
2 |
87,321,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Pramel7
|
UTSW |
2 |
87,320,019 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2014-01-21 |
Incidental Mutation