Incidental Mutation 'R1306:Pnma8a'
ID |
157801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnma8a
|
Ensembl Gene |
ENSMUSG00000041141 |
Gene Name |
PNMA family member 8A |
Synonyms |
0710005I19Rik, Pnmal1, 4930488B01Rik |
MMRRC Submission |
039372-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R1306 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
16693604-16698532 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16695950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 428
(R428G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038163]
|
AlphaFold |
Q80VM8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038163
AA Change: R428G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000040929 Gene: ENSMUSG00000041141 AA Change: R428G
Domain | Start | End | E-Value | Type |
Pfam:PNMA
|
5 |
364 |
6.9e-108 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk3 |
T |
A |
7: 80,743,621 (GRCm39) |
L1146H |
probably damaging |
Het |
Atad2b |
A |
G |
12: 5,024,239 (GRCm39) |
I121M |
probably benign |
Het |
Atg2a |
A |
T |
19: 6,303,051 (GRCm39) |
T1053S |
probably benign |
Het |
Bend5 |
C |
T |
4: 111,316,970 (GRCm39) |
Q127* |
probably null |
Het |
Ccser1 |
G |
A |
6: 62,357,090 (GRCm39) |
D843N |
probably damaging |
Het |
Dennd4b |
A |
G |
3: 90,178,472 (GRCm39) |
T512A |
probably benign |
Het |
Dnmbp |
A |
T |
19: 43,890,218 (GRCm39) |
D516E |
probably benign |
Het |
Dok3 |
C |
A |
13: 55,675,261 (GRCm39) |
E86* |
probably null |
Het |
Fat3 |
A |
G |
9: 16,287,975 (GRCm39) |
I516T |
probably damaging |
Het |
Gabbr1 |
T |
A |
17: 37,366,882 (GRCm39) |
|
probably null |
Het |
Gjd2 |
T |
C |
2: 113,842,346 (GRCm39) |
T44A |
probably damaging |
Het |
Mcm7 |
C |
A |
5: 138,165,465 (GRCm39) |
A480S |
probably damaging |
Het |
Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,159,030 (GRCm39) |
|
probably benign |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Pdzph1 |
T |
C |
17: 59,239,427 (GRCm39) |
H967R |
possibly damaging |
Het |
Pik3c2g |
A |
G |
6: 139,718,154 (GRCm39) |
N227S |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,792,146 (GRCm39) |
S1278P |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,091,597 (GRCm39) |
E71G |
probably damaging |
Het |
Sertad2 |
T |
C |
11: 20,598,388 (GRCm39) |
S195P |
probably benign |
Het |
Slc19a3 |
A |
G |
1: 83,000,483 (GRCm39) |
L178S |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,748,388 (GRCm39) |
D139G |
possibly damaging |
Het |
Tm4sf19 |
G |
A |
16: 32,226,720 (GRCm39) |
V170M |
probably damaging |
Het |
Vwa3a |
C |
G |
7: 120,399,613 (GRCm39) |
S1031R |
possibly damaging |
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 |
|
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 |
R4009:Pnma8a
|
UTSW |
7 |
16,695,301 (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'- ACCCTCCCAGGTGAGGATTATCAAG -3'
(R):5'- AAGTGGCTCCAACTCAGGAAAAGAC -3'
Sequencing Primer
(F):5'- gggaggcaaagcagagg -3'
(R):5'- GGAATCTCCCCCTGACAGTATC -3'
|
Posted On |
2014-02-18 |