Incidental Mutation 'R3013:Pramel31'
| ID |
257561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel31
|
| Ensembl Gene |
ENSMUSG00000070619 |
| Gene Name |
PRAME like 31 |
| Synonyms |
Gm13119 |
| MMRRC Submission |
040534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144084534-144090989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144089025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 114
(D114E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094526]
|
| AlphaFold |
B1ARV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094526
AA Change: D114E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: D114E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
210 |
414 |
3e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
T |
8: 124,211,416 (GRCm39) |
R126W |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,111,759 (GRCm39) |
I201N |
possibly damaging |
Het |
| Arid2 |
T |
C |
15: 96,259,817 (GRCm39) |
S326P |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,070,775 (GRCm39) |
S189P |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,752,025 (GRCm39) |
V852A |
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,929,915 (GRCm39) |
S455L |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,139 (GRCm39) |
K292R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,227,847 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,847,067 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,324,358 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
T |
A |
5: 135,463,893 (GRCm39) |
E37V |
possibly damaging |
Het |
| Hspbp1 |
G |
T |
7: 4,666,483 (GRCm39) |
T299K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,074,497 (GRCm39) |
D470G |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,936,929 (GRCm39) |
I334N |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,951,744 (GRCm39) |
L4003Q |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,614,509 (GRCm39) |
C314F |
probably benign |
Het |
| Prr5l |
A |
G |
2: 101,565,050 (GRCm39) |
F162S |
probably damaging |
Het |
| Rbfox2 |
T |
C |
15: 77,017,120 (GRCm39) |
T17A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,470,626 (GRCm39) |
F4610L |
probably damaging |
Het |
| Scp2 |
T |
A |
4: 107,928,554 (GRCm39) |
R379W |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,285,966 (GRCm39) |
T374A |
probably damaging |
Het |
| Smad4 |
T |
C |
18: 73,781,975 (GRCm39) |
Y429C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,565,025 (GRCm39) |
T28401A |
probably damaging |
Het |
| Wdr49 |
A |
G |
3: 75,358,154 (GRCm39) |
I260T |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,848,851 (GRCm39) |
T11A |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,157 (GRCm39) |
D262G |
probably damaging |
Het |
|
| Other mutations in Pramel31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Pramel31
|
APN |
4 |
144,089,100 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00485:Pramel31
|
APN |
4 |
144,090,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01025:Pramel31
|
APN |
4 |
144,089,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01102:Pramel31
|
APN |
4 |
144,090,195 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01631:Pramel31
|
APN |
4 |
144,089,015 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02228:Pramel31
|
APN |
4 |
144,089,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02708:Pramel31
|
APN |
4 |
144,089,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02827:Pramel31
|
APN |
4 |
144,090,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03398:Pramel31
|
APN |
4 |
144,090,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Pramel31
|
UTSW |
4 |
144,089,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0627:Pramel31
|
UTSW |
4 |
144,089,416 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0632:Pramel31
|
UTSW |
4 |
144,090,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Pramel31
|
UTSW |
4 |
144,088,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1895:Pramel31
|
UTSW |
4 |
144,088,435 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1946:Pramel31
|
UTSW |
4 |
144,088,435 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2263:Pramel31
|
UTSW |
4 |
144,090,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2389:Pramel31
|
UTSW |
4 |
144,089,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2435:Pramel31
|
UTSW |
4 |
144,089,473 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3021:Pramel31
|
UTSW |
4 |
144,088,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3106:Pramel31
|
UTSW |
4 |
144,088,246 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5237:Pramel31
|
UTSW |
4 |
144,089,041 (GRCm39) |
nonsense |
probably null |
|
|
R5411:Pramel31
|
UTSW |
4 |
144,088,207 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5532:Pramel31
|
UTSW |
4 |
144,090,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Pramel31
|
UTSW |
4 |
144,090,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6277:Pramel31
|
UTSW |
4 |
144,090,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6625:Pramel31
|
UTSW |
4 |
144,090,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6717:Pramel31
|
UTSW |
4 |
144,089,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7103:Pramel31
|
UTSW |
4 |
144,090,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7207:Pramel31
|
UTSW |
4 |
144,088,473 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8934:Pramel31
|
UTSW |
4 |
144,090,345 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9325:Pramel31
|
UTSW |
4 |
144,089,093 (GRCm39) |
missense |
probably benign |
|
|
R9411:Pramel31
|
UTSW |
4 |
144,089,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pramel31
|
UTSW |
4 |
144,089,543 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTGCTATGTGGAGACCCAG -3'
(R):5'- AGGTTCAGGGAAGCTCTTCTC -3'
Sequencing Primer
(F):5'- GCTATGTGGAGACCCAGTACTG -3'
(R):5'- GGGAAGCTCTTCTCTCCTGTG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation