Incidental Mutation 'R4009:Pnma8a'
ID |
311601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnma8a
|
Ensembl Gene |
ENSMUSG00000041141 |
Gene Name |
PNMA family member 8A |
Synonyms |
0710005I19Rik, Pnmal1, 4930488B01Rik |
MMRRC Submission |
040846-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R4009 (G1)
|
Quality Score |
204 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
16693604-16698532 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 16695301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 385
(K385N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038163]
|
AlphaFold |
Q80VM8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038163
AA Change: K385N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040929 Gene: ENSMUSG00000041141 AA Change: K385N
Domain | Start | End | E-Value | Type |
Pfam:PNMA
|
5 |
364 |
6.9e-108 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,980,933 (GRCm39) |
L35Q |
probably damaging |
Het |
Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
Apc2 |
T |
A |
10: 80,149,426 (GRCm39) |
D1464E |
probably benign |
Het |
Atp8a2 |
A |
G |
14: 60,265,434 (GRCm39) |
S301P |
possibly damaging |
Het |
Cntln |
A |
G |
4: 84,981,452 (GRCm39) |
T877A |
probably benign |
Het |
Cntn6 |
T |
C |
6: 104,810,783 (GRCm39) |
I537T |
probably damaging |
Het |
Cyp2d12 |
T |
G |
15: 82,440,493 (GRCm39) |
L94R |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,564,164 (GRCm39) |
L1965P |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,510,148 (GRCm39) |
N1560S |
probably damaging |
Het |
F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
Fxr1 |
G |
T |
3: 34,119,171 (GRCm39) |
R580L |
probably benign |
Het |
Gm5592 |
G |
T |
7: 40,938,934 (GRCm39) |
V739L |
probably benign |
Het |
Gna13 |
A |
G |
11: 109,286,843 (GRCm39) |
D222G |
probably damaging |
Het |
Grm7 |
T |
A |
6: 111,472,683 (GRCm39) |
Y841N |
probably damaging |
Het |
Kat2b |
G |
A |
17: 53,951,769 (GRCm39) |
|
probably null |
Het |
Kcng4 |
A |
G |
8: 120,352,824 (GRCm39) |
V362A |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 191,959,448 (GRCm39) |
I334N |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,854,086 (GRCm39) |
S1222P |
probably benign |
Het |
Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
Or11g26 |
T |
C |
14: 50,753,419 (GRCm39) |
S253P |
possibly damaging |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Pik3cb |
A |
G |
9: 98,922,982 (GRCm39) |
Y1017H |
probably damaging |
Het |
Plpp5 |
A |
G |
8: 26,210,338 (GRCm39) |
E36G |
probably damaging |
Het |
Ptprd |
T |
G |
4: 75,874,634 (GRCm39) |
M1272L |
possibly damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,507,052 (GRCm39) |
I325V |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Skint4 |
T |
C |
4: 111,977,306 (GRCm39) |
V232A |
possibly damaging |
Het |
Slc30a5 |
G |
A |
13: 100,945,741 (GRCm39) |
A537V |
probably damaging |
Het |
Tcerg1 |
CAATTGAAAA |
CAA |
18: 42,697,201 (GRCm39) |
|
probably null |
Het |
Tenm3 |
C |
A |
8: 48,802,258 (GRCm39) |
K162N |
probably damaging |
Het |
Vmn2r44 |
T |
A |
7: 8,380,987 (GRCm39) |
Q302L |
possibly damaging |
Het |
Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
probably benign |
Het |
|
Other mutations in Pnma8a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
FR4737:Pnma8a
|
UTSW |
7 |
16,695,350 (GRCm39) |
small insertion |
probably benign |
|
R0116:Pnma8a
|
UTSW |
7 |
16,694,625 (GRCm39) |
missense |
probably damaging |
0.97 |
R0140:Pnma8a
|
UTSW |
7 |
16,694,147 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
R1109:Pnma8a
|
UTSW |
7 |
16,695,392 (GRCm39) |
nonsense |
probably null |
|
R1306:Pnma8a
|
UTSW |
7 |
16,695,950 (GRCm39) |
missense |
probably benign |
0.00 |
R1426:Pnma8a
|
UTSW |
7 |
16,694,909 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2000:Pnma8a
|
UTSW |
7 |
16,694,964 (GRCm39) |
missense |
probably benign |
0.01 |
R2404:Pnma8a
|
UTSW |
7 |
16,694,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R3415:Pnma8a
|
UTSW |
7 |
16,694,879 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3708:Pnma8a
|
UTSW |
7 |
16,694,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R4105:Pnma8a
|
UTSW |
7 |
16,695,104 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5126:Pnma8a
|
UTSW |
7 |
16,695,242 (GRCm39) |
missense |
probably benign |
0.03 |
R5244:Pnma8a
|
UTSW |
7 |
16,695,248 (GRCm39) |
missense |
probably damaging |
0.99 |
R5825:Pnma8a
|
UTSW |
7 |
16,695,020 (GRCm39) |
missense |
probably benign |
0.01 |
R5931:Pnma8a
|
UTSW |
7 |
16,694,809 (GRCm39) |
missense |
probably benign |
0.31 |
R6128:Pnma8a
|
UTSW |
7 |
16,694,661 (GRCm39) |
missense |
probably benign |
0.00 |
R7337:Pnma8a
|
UTSW |
7 |
16,695,315 (GRCm39) |
missense |
probably benign |
0.35 |
R7756:Pnma8a
|
UTSW |
7 |
16,695,224 (GRCm39) |
missense |
probably benign |
0.27 |
R7758:Pnma8a
|
UTSW |
7 |
16,695,224 (GRCm39) |
missense |
probably benign |
0.27 |
R8687:Pnma8a
|
UTSW |
7 |
16,694,520 (GRCm39) |
missense |
probably damaging |
0.99 |
R8854:Pnma8a
|
UTSW |
7 |
16,695,104 (GRCm39) |
missense |
possibly damaging |
0.81 |
RF007:Pnma8a
|
UTSW |
7 |
16,695,349 (GRCm39) |
small insertion |
probably benign |
|
RF009:Pnma8a
|
UTSW |
7 |
16,695,352 (GRCm39) |
small insertion |
probably benign |
|
RF020:Pnma8a
|
UTSW |
7 |
16,695,376 (GRCm39) |
small insertion |
probably benign |
|
RF022:Pnma8a
|
UTSW |
7 |
16,695,352 (GRCm39) |
small insertion |
probably benign |
|
RF029:Pnma8a
|
UTSW |
7 |
16,695,369 (GRCm39) |
nonsense |
probably null |
|
RF039:Pnma8a
|
UTSW |
7 |
16,695,369 (GRCm39) |
small insertion |
probably benign |
|
RF041:Pnma8a
|
UTSW |
7 |
16,695,369 (GRCm39) |
nonsense |
probably null |
|
RF046:Pnma8a
|
UTSW |
7 |
16,695,348 (GRCm39) |
small insertion |
probably benign |
|
RF047:Pnma8a
|
UTSW |
7 |
16,695,348 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAAGAGTCTGGAGGGATCCC -3'
(R):5'- CCAATATCCTGAGGTCCTCCTG -3'
Sequencing Primer
(F):5'- AGGGATCCCAGCGATCTTC -3'
(R):5'- AATATCCTGAGGTCCTCCTGGTTAC -3'
|
Posted On |
2015-04-29 |