Incidental Mutation 'R1426:Pnma8a'
| ID |
162247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnma8a
|
| Ensembl Gene |
ENSMUSG00000041141 |
| Gene Name |
PNMA family member 8A |
| Synonyms |
0710005I19Rik, Pnmal1, 4930488B01Rik |
| MMRRC Submission |
039482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R1426 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16693604-16698532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 16694909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 255
(P255S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038163]
|
| AlphaFold |
Q80VM8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038163
AA Change: P255S
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040929
Gene: ENSMUSG00000041141
AA Change: P255S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNMA
|
5 |
364 |
6.9e-108 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,361 (GRCm39) |
V214E |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,992,556 (GRCm39) |
D224G |
probably damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Brat1 |
G |
A |
5: 140,703,768 (GRCm39) |
V674I |
probably benign |
Het |
| Brd2 |
ATCTTCTTC |
ATCTTC |
17: 34,332,981 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,429,178 (GRCm39) |
D438G |
possibly damaging |
Het |
| Cyp4x1 |
T |
A |
4: 114,969,988 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,115,654 (GRCm39) |
|
probably benign |
Het |
| Eif2s1 |
A |
G |
12: 78,927,942 (GRCm39) |
D206G |
probably benign |
Het |
| Elovl7 |
T |
A |
13: 108,419,028 (GRCm39) |
I220N |
possibly damaging |
Het |
| Gsto1 |
A |
G |
19: 47,846,381 (GRCm39) |
E76G |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,509,858 (GRCm39) |
W12R |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,560,518 (GRCm39) |
C260S |
possibly damaging |
Het |
| Lama3 |
G |
T |
18: 12,614,155 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,697,728 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,610,839 (GRCm39) |
Q525L |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,137 (GRCm39) |
I164T |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,023,795 (GRCm39) |
K1527* |
probably null |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,320,737 (GRCm39) |
|
probably benign |
Het |
| Or5an1c |
G |
T |
19: 12,218,546 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,559 (GRCm39) |
C95S |
probably damaging |
Het |
| Pafah1b3 |
T |
C |
7: 24,996,560 (GRCm39) |
E41G |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,012,987 (GRCm39) |
|
probably benign |
Het |
| Rbck1 |
A |
T |
2: 152,169,161 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
A |
G |
19: 7,248,395 (GRCm39) |
S137G |
possibly damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,596,804 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,391,808 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,790,472 (GRCm39) |
|
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,730,655 (GRCm39) |
I344N |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,429,236 (GRCm39) |
F284L |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,470,220 (GRCm39) |
M699T |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,968 (GRCm39) |
H472R |
possibly damaging |
Het |
| Zfp786 |
A |
G |
6: 47,802,013 (GRCm39) |
V88A |
probably benign |
Het |
| Zkscan7 |
T |
C |
9: 122,724,228 (GRCm39) |
I399T |
probably benign |
Het |
| Zyg11b |
G |
A |
4: 108,108,009 (GRCm39) |
R466C |
probably 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 |
|
|
R1306:Pnma8a
|
UTSW |
7 |
16,695,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GCCTCTTGAAGCTTAACCCTAACCC -3'
(R):5'- CGGTCCACCATCTTGATCTGAATCC -3'
Sequencing Primer
(F):5'- ATGCTGCAATCCGTAGTCG -3'
(R):5'- GATCTGAATCCTCTAGGTTCCCG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation