Incidental Mutation 'R4105:Pnma8a'
| ID |
321344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnma8a
|
| Ensembl Gene |
ENSMUSG00000041141 |
| Gene Name |
PNMA family member 8A |
| Synonyms |
0710005I19Rik, Pnmal1, 4930488B01Rik |
| MMRRC Submission |
040985-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R4105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16693604-16698532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16695104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 320
(S320P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038163]
|
| AlphaFold |
Q80VM8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038163
AA Change: S320P
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040929
Gene: ENSMUSG00000041141
AA Change: S320P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNMA
|
5 |
364 |
6.9e-108 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
C |
3: 89,647,401 (GRCm39) |
S127P |
probably benign |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,896,243 (GRCm39) |
S266G |
possibly damaging |
Het |
| Atg9a |
A |
G |
1: 75,162,603 (GRCm39) |
Y471H |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,916,058 (GRCm39) |
Q226R |
probably damaging |
Het |
| Bmper |
G |
A |
9: 23,136,059 (GRCm39) |
V47I |
probably benign |
Het |
| Cel |
T |
C |
2: 28,448,039 (GRCm39) |
D329G |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,677,824 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| Dchs1 |
A |
C |
7: 105,414,347 (GRCm39) |
S823A |
probably damaging |
Het |
| Dnajb2 |
G |
T |
1: 75,213,543 (GRCm39) |
E6* |
probably null |
Het |
| Eif2b3 |
G |
A |
4: 116,938,831 (GRCm39) |
G427R |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
G |
8: 45,489,888 (GRCm39) |
Y3600C |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,059,054 (GRCm39) |
F228L |
probably benign |
Het |
| Fgf7 |
T |
A |
2: 125,877,599 (GRCm39) |
|
probably benign |
Het |
| Gm2832 |
A |
T |
14: 41,002,856 (GRCm39) |
M122L |
unknown |
Het |
| Lrrcc1 |
T |
C |
3: 14,615,388 (GRCm39) |
V73A |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,356,247 (GRCm39) |
R1123G |
probably benign |
Het |
| Nfya |
G |
T |
17: 48,699,912 (GRCm39) |
Y37* |
probably null |
Het |
| Or2o1 |
A |
G |
11: 49,051,375 (GRCm39) |
H178R |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,229,679 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,953,175 (GRCm39) |
N1581S |
probably damaging |
Het |
| Polrmt |
G |
T |
10: 79,577,567 (GRCm39) |
T344K |
probably benign |
Het |
| Postn |
T |
C |
3: 54,283,462 (GRCm39) |
F514L |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,408,828 (GRCm39) |
T1895N |
probably damaging |
Het |
| Slc15a2 |
G |
T |
16: 36,602,755 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
T |
A |
9: 102,945,075 (GRCm39) |
L150Q |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,950,449 (GRCm39) |
F347S |
probably damaging |
Het |
| Smim13 |
T |
A |
13: 41,426,127 (GRCm39) |
D54E |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,069,936 (GRCm39) |
I1027N |
probably damaging |
Het |
| Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,181,265 (GRCm39) |
I429T |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,860,581 (GRCm39) |
R254* |
probably null |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,691 (GRCm39) |
V331A |
probably benign |
Het |
| Ypel3 |
T |
C |
7: 126,377,265 (GRCm39) |
S82P |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,618,667 (GRCm39) |
L55P |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,041,437 (GRCm39) |
D173G |
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 |
|
R4009:Pnma8a
|
UTSW |
7 |
16,695,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGGGCAGCAATTACAACAGC -3'
(R):5'- GCACCAAGCCCTTTCTTCAG -3'
Sequencing Primer
(F):5'- GGGCAGCAATTACAACAGCAATTAC -3'
(R):5'- TGGCTTCAGCATCAAGCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation