Incidental Mutation 'R6625:Pramel31'
| ID |
524718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel31
|
| Ensembl Gene |
ENSMUSG00000070619 |
| Gene Name |
PRAME like 31 |
| Synonyms |
Gm13119 |
| MMRRC Submission |
044747-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6625 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144084534-144090989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144090369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 470
(Y470N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094526]
|
| AlphaFold |
B1ARV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094526
AA Change: Y470N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: Y470N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
210 |
414 |
3e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
91% (30/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Apcdd1 |
C |
A |
18: 63,084,929 (GRCm39) |
D375E |
probably damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,567,391 (GRCm39) |
R984W |
probably null |
Het |
| Csmd3 |
T |
G |
15: 47,470,471 (GRCm39) |
I3402L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,604,916 (GRCm39) |
T1281S |
probably benign |
Het |
| Dnmt3b |
T |
C |
2: 153,507,233 (GRCm39) |
I139T |
probably benign |
Het |
| Dtnbp1 |
T |
C |
13: 45,145,507 (GRCm39) |
E40G |
possibly damaging |
Het |
| Fam162b |
C |
T |
10: 51,466,391 (GRCm39) |
G43R |
probably damaging |
Het |
| G2e3 |
T |
G |
12: 51,400,572 (GRCm39) |
|
probably null |
Het |
| Kiss1r |
G |
A |
10: 79,755,368 (GRCm39) |
V118I |
possibly damaging |
Het |
| Mre11a |
T |
C |
9: 14,716,687 (GRCm39) |
M294T |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,571,574 (GRCm39) |
V315D |
unknown |
Het |
| Nelfe |
C |
T |
17: 35,073,334 (GRCm39) |
P290S |
probably benign |
Het |
| Or2v2 |
T |
A |
11: 49,003,896 (GRCm39) |
Y219F |
probably damaging |
Het |
| Or5a3 |
T |
G |
19: 12,400,205 (GRCm39) |
H177Q |
probably damaging |
Het |
| Pcolce2 |
T |
A |
9: 95,560,492 (GRCm39) |
C180* |
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,154,333 (GRCm39) |
V2482D |
probably damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,806 (GRCm39) |
|
probably benign |
Het |
| Pramel57 |
C |
T |
5: 95,669,342 (GRCm39) |
H124Y |
possibly damaging |
Het |
| Prss48 |
G |
T |
3: 85,905,373 (GRCm39) |
Q167K |
probably benign |
Het |
| Saxo4 |
G |
A |
19: 10,459,100 (GRCm39) |
P65L |
probably damaging |
Het |
| Scyl1 |
C |
A |
19: 5,810,854 (GRCm39) |
V488F |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,372,594 (GRCm39) |
L587Q |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,860,082 (GRCm39) |
D648G |
probably benign |
Het |
| Snupn |
G |
A |
9: 56,890,054 (GRCm39) |
V292I |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,656,717 (GRCm39) |
H474R |
probably damaging |
Het |
| Thap12 |
G |
A |
7: 98,365,277 (GRCm39) |
V482I |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,949,025 (GRCm39) |
V454D |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,894,935 (GRCm39) |
I862V |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,177 (GRCm39) |
F474L |
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,569,366 (GRCm39) |
R573G |
probably damaging |
Het |
| Zfp493 |
C |
T |
13: 67,934,514 (GRCm39) |
Q156* |
probably null |
Het |
| Zfp873 |
C |
A |
10: 81,896,138 (GRCm39) |
P290T |
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 |
|
R3013:Pramel31
|
UTSW |
4 |
144,089,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- CCACGTCTGTCCTAATGAACC -3'
(R):5'- TCTCTAGATGTCACAGTCAGCC -3'
Sequencing Primer
(F):5'- GCCAGCTGATCATGGAGCTTTATC -3'
(R):5'- AGATGTCACAGTCAGCCCCTTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation