Incidental Mutation 'R2182:Pramel11'
| ID |
237228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel11
|
| Ensembl Gene |
ENSMUSG00000078512 |
| Gene Name |
PRAME like 11 |
| Synonyms |
Gm13099, Pramef6 |
| MMRRC Submission |
040184-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R2182 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143620807-143626950 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143623760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 138
(H138L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081645]
[ENSMUST00000105767]
|
| AlphaFold |
A2A8M8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081645
AA Change: H138L
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512
AA Change: H138L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
204 |
412 |
6e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105767
AA Change: H138L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000101393
Gene: ENSMUSG00000078512
AA Change: H138L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
204 |
412 |
1e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
G |
9: 53,334,243 (GRCm39) |
H17R |
probably damaging |
Het |
| Abca15 |
G |
A |
7: 119,939,450 (GRCm39) |
W281* |
probably null |
Het |
| Aloxe3 |
G |
A |
11: 69,020,426 (GRCm39) |
V157M |
possibly damaging |
Het |
| Arhgap26 |
G |
T |
18: 39,490,862 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,504,563 (GRCm39) |
N698S |
probably damaging |
Het |
| Clec4a4 |
A |
G |
6: 122,990,716 (GRCm39) |
|
probably null |
Het |
| Clgn |
C |
T |
8: 84,137,039 (GRCm39) |
T252I |
possibly damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,730,571 (GRCm39) |
N179Y |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,151,082 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
G |
T |
7: 109,533,201 (GRCm39) |
R190S |
probably benign |
Het |
| Dtx4 |
C |
A |
19: 12,460,471 (GRCm39) |
G384V |
probably null |
Het |
| Dxo |
T |
C |
17: 35,057,868 (GRCm39) |
V191A |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fntb |
A |
G |
12: 76,909,309 (GRCm39) |
N99S |
probably benign |
Het |
| Gm5773 |
T |
A |
3: 93,680,820 (GRCm39) |
I164K |
probably benign |
Het |
| Golm2 |
A |
G |
2: 121,697,909 (GRCm39) |
D75G |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,877,879 (GRCm39) |
I325T |
probably damaging |
Het |
| Igsf8 |
G |
A |
1: 172,118,295 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
A |
G |
1: 153,002,612 (GRCm39) |
V17A |
possibly damaging |
Het |
| Lpxn |
T |
C |
19: 12,810,122 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
G |
4: 123,386,464 (GRCm39) |
V1296A |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,266,959 (GRCm39) |
L318Q |
probably damaging |
Het |
| Mpl |
T |
A |
4: 118,314,610 (GRCm39) |
Q13L |
probably benign |
Het |
| Mpnd |
A |
G |
17: 56,322,964 (GRCm39) |
S399G |
probably benign |
Het |
| Mrps5 |
T |
C |
2: 127,444,407 (GRCm39) |
L347P |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,550,188 (GRCm39) |
Q1217H |
probably benign |
Het |
| Nav2 |
G |
A |
7: 49,247,002 (GRCm39) |
V2176I |
probably benign |
Het |
| Obi1 |
A |
G |
14: 104,743,612 (GRCm39) |
S156P |
possibly damaging |
Het |
| Or13p3 |
T |
C |
4: 118,567,542 (GRCm39) |
*313R |
probably null |
Het |
| Or7g33 |
T |
C |
9: 19,448,638 (GRCm39) |
N196S |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,420 (GRCm39) |
N84S |
probably benign |
Het |
| Or8g36 |
A |
T |
9: 39,422,722 (GRCm39) |
M98K |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,814,640 (GRCm39) |
Y324* |
probably null |
Het |
| Pcsk7 |
T |
A |
9: 45,839,917 (GRCm39) |
C702S |
probably benign |
Het |
| Rictor |
T |
C |
15: 6,801,685 (GRCm39) |
S458P |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,027,028 (GRCm39) |
M905V |
probably benign |
Het |
| Scarf2 |
T |
C |
16: 17,620,886 (GRCm39) |
C185R |
probably damaging |
Het |
| Scd1 |
T |
G |
19: 44,391,732 (GRCm39) |
I101L |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,687,876 (GRCm39) |
M1V |
probably null |
Het |
| Sost |
T |
C |
11: 101,854,676 (GRCm39) |
Y211C |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,254,405 (GRCm39) |
S828P |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,968,170 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,745,816 (GRCm39) |
K1319R |
unknown |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,931 (GRCm39) |
T765A |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,325,691 (GRCm39) |
T103K |
possibly damaging |
Het |
| Zbtb44 |
T |
C |
9: 30,977,972 (GRCm39) |
C429R |
possibly damaging |
Het |
| Zc3h4 |
G |
A |
7: 16,156,441 (GRCm39) |
G327D |
unknown |
Het |
| Zfp292 |
A |
G |
4: 34,807,417 (GRCm39) |
C1876R |
probably damaging |
Het |
| Zfp839 |
C |
T |
12: 110,834,772 (GRCm39) |
L676F |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,544 (GRCm39) |
L139P |
probably damaging |
Het |
| Zscan12 |
A |
G |
13: 21,552,961 (GRCm39) |
I262V |
probably benign |
Het |
|
| Other mutations in Pramel11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01704:Pramel11
|
APN |
4 |
143,622,201 (GRCm39) |
missense |
probably benign |
|
|
IGL01917:Pramel11
|
APN |
4 |
143,624,284 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02222:Pramel11
|
APN |
4 |
143,622,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02315:Pramel11
|
APN |
4 |
143,624,498 (GRCm39) |
start gained |
probably benign |
|
|
R0488:Pramel11
|
UTSW |
4 |
143,621,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0755:Pramel11
|
UTSW |
4 |
143,624,299 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0972:Pramel11
|
UTSW |
4 |
143,623,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1444:Pramel11
|
UTSW |
4 |
143,623,461 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1551:Pramel11
|
UTSW |
4 |
143,622,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1907:Pramel11
|
UTSW |
4 |
143,622,061 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2068:Pramel11
|
UTSW |
4 |
143,623,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2246:Pramel11
|
UTSW |
4 |
143,623,790 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4483:Pramel11
|
UTSW |
4 |
143,622,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Pramel11
|
UTSW |
4 |
143,623,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5291:Pramel11
|
UTSW |
4 |
143,622,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Pramel11
|
UTSW |
4 |
143,622,337 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5683:Pramel11
|
UTSW |
4 |
143,622,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5836:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5837:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5838:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5853:Pramel11
|
UTSW |
4 |
143,623,490 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6340:Pramel11
|
UTSW |
4 |
143,623,877 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6572:Pramel11
|
UTSW |
4 |
143,621,943 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6791:Pramel11
|
UTSW |
4 |
143,622,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6972:Pramel11
|
UTSW |
4 |
143,623,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Pramel11
|
UTSW |
4 |
143,621,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7307:Pramel11
|
UTSW |
4 |
143,623,345 (GRCm39) |
nonsense |
probably null |
|
|
R7342:Pramel11
|
UTSW |
4 |
143,623,520 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7361:Pramel11
|
UTSW |
4 |
143,622,456 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7480:Pramel11
|
UTSW |
4 |
143,622,065 (GRCm39) |
missense |
probably benign |
|
|
R7685:Pramel11
|
UTSW |
4 |
143,624,371 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7861:Pramel11
|
UTSW |
4 |
143,624,288 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8699:Pramel11
|
UTSW |
4 |
143,623,762 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8981:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9100:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9101:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9103:Pramel11
|
UTSW |
4 |
143,624,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9112:Pramel11
|
UTSW |
4 |
143,623,334 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9198:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9202:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9203:Pramel11
|
UTSW |
4 |
143,623,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9473:Pramel11
|
UTSW |
4 |
143,620,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9646:Pramel11
|
UTSW |
4 |
143,623,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pramel11
|
UTSW |
4 |
143,622,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pramel11
|
UTSW |
4 |
143,623,769 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCCTGGATTGAGGCTGC -3'
(R):5'- CCTGCAGATTACACATTGTGTC -3'
Sequencing Primer
(F):5'- GATTGAGGCTGCATCAAAAACCTTC -3'
(R):5'- GCAGATTACACATTGTGTCTCCTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation