Incidental Mutation 'R2435:Pramel31'
| ID |
249537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel31
|
| Ensembl Gene |
ENSMUSG00000070619 |
| Gene Name |
PRAME like 31 |
| Synonyms |
Gm13119 |
| MMRRC Submission |
040396-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144084534-144090989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144089473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 264
(I264F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094526]
|
| AlphaFold |
B1ARV5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094526
AA Change: I264F
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: I264F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
210 |
414 |
3e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,898,294 (GRCm39) |
T226I |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,369,704 (GRCm39) |
N102D |
probably damaging |
Het |
| Cd34 |
T |
A |
1: 194,621,334 (GRCm39) |
C21S |
probably damaging |
Het |
| Cdh18 |
C |
T |
15: 23,367,094 (GRCm39) |
R267W |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,411,490 (GRCm39) |
N966K |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,265,855 (GRCm39) |
V44A |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,323,083 (GRCm39) |
N2828I |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,839,929 (GRCm39) |
|
probably null |
Het |
| Fshr |
A |
T |
17: 89,508,024 (GRCm39) |
V6D |
unknown |
Het |
| Gcc2 |
A |
G |
10: 58,130,602 (GRCm39) |
D1398G |
probably damaging |
Het |
| Gpi1 |
G |
A |
7: 33,905,254 (GRCm39) |
A390V |
probably damaging |
Het |
| Gypa |
G |
T |
8: 81,233,397 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Ifna13 |
T |
A |
4: 88,562,366 (GRCm39) |
Q86L |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,012,763 (GRCm39) |
C698* |
probably null |
Het |
| Ivns1abp |
T |
C |
1: 151,239,061 (GRCm39) |
V625A |
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,531,345 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
G |
A |
16: 94,563,538 (GRCm39) |
T320M |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,368 (GRCm39) |
I248T |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,371,841 (GRCm39) |
Y2647F |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or4k15 |
T |
C |
14: 50,364,211 (GRCm39) |
M59T |
probably damaging |
Het |
| Or6c217 |
G |
T |
10: 129,738,173 (GRCm39) |
N135K |
possibly damaging |
Het |
| Pard3b |
T |
A |
1: 62,626,897 (GRCm39) |
V1059E |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,377,334 (GRCm39) |
I1585L |
probably benign |
Het |
| Prrc2b |
A |
T |
2: 32,109,741 (GRCm39) |
S1791C |
probably damaging |
Het |
| Rbmxl2 |
C |
A |
7: 106,809,538 (GRCm39) |
S274R |
probably damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,475 (GRCm39) |
E168G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,819,237 (GRCm39) |
S1440P |
probably benign |
Het |
| Snrnp40 |
A |
G |
4: 130,278,344 (GRCm39) |
H283R |
probably damaging |
Het |
| Tcaf2 |
G |
T |
6: 42,607,298 (GRCm39) |
Q219K |
possibly damaging |
Het |
| Tenm3 |
C |
T |
8: 48,740,988 (GRCm39) |
R803H |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,287,465 (GRCm39) |
D234G |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,959,514 (GRCm39) |
F653S |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,986,373 (GRCm39) |
I136V |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,656,753 (GRCm39) |
S151P |
possibly damaging |
Het |
| Vmn2r50 |
C |
A |
7: 9,787,026 (GRCm39) |
W27L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,436,836 (GRCm39) |
S2006G |
unknown |
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 |
|
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 |
|
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'- GGGATTGGCTATGCACACTG -3'
(R):5'- ACATCTACCATGGCCCCTAG -3'
Sequencing Primer
(F):5'- TGCACACTGTCAGGAAGATCTTG -3'
(R):5'- TGGCCCCTAGTCTATATGGGAAAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation