Incidental Mutation 'RF047:Pnma8a'
| ID |
605046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnma8a
|
| Ensembl Gene |
ENSMUSG00000041141 |
| Gene Name |
PNMA family member 8A |
| Synonyms |
0710005I19Rik, Pnmal1, 4930488B01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
RF047 (G1)
|
| Quality Score |
215.25 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16693604-16698532 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (8 aa in frame mutation) |
| DNA Base Change (assembly) |
TACCTCATGATGCACCTGCTTCAACA to TACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA
at 16695348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038163]
|
| AlphaFold |
Q80VM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038163
|
| SMART Domains |
Protein: ENSMUSP00000040929
Gene: ENSMUSG00000041141
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNMA
|
5 |
364 |
6.9e-108 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
AAGA |
AA |
5: 8,946,595 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,970 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,976 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
TTATTTAT |
TTATTTATTTCTGTATTTAT |
9: 78,619,809 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
C |
A |
12: 117,973,818 (GRCm39) |
G2832V |
probably damaging |
Het |
| Dnmt1 |
GAGCACAGTTCCTACCTCGTT |
GAGCACAGTTCCTACCTCGTTTTGGGGGCGTAGCACAGTTCCTACCTCGTT |
9: 20,821,421 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,599 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,659 (GRCm39) |
|
probably benign |
Het |
| Gabre |
C |
CTGGCTA |
X: 71,314,371 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GAGGGAGGA |
GAGGGAGGAAGGCTGGATCCTGGATACCTGGGTCTTAGGGAGGA |
7: 44,149,953 (GRCm39) |
|
probably null |
Het |
| Garin5a |
G |
GCAGGGTGGATCCTGGATACCTGGGTCTGCGGGAGT |
7: 44,149,960 (GRCm39) |
|
probably null |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,037 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
CCTTTTCC |
CCTTTTCCGTTTCCTTTTCCTTTTCCTTTGCCTTTTGCTTTTCC |
9: 106,447,811 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
5: 25,520,758 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCAACA |
X: 70,162,445 (GRCm39) |
|
probably benign |
Het |
| Mup21 |
TATACTT |
TATACTTTTTAGATACTT |
4: 62,067,582 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GCCTCACCTGGGGACTTG |
GCCTCACCTGGGGACTTGTCCTCACCTGGGGACTTG |
11: 4,891,038 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
AGCAGCA |
AGCAGCACCAGCCGCAGCA |
5: 28,599,160 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
CAGCAGCAGCAGCA |
CAGCAGCAGCAGCAGCAGCA |
19: 26,608,405 (GRCm39) |
|
probably benign |
Het |
| Strn |
GTGCTCCCTTACCCCAGTC |
GTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCTTGCTCCCTTACCCCAGTC |
17: 78,984,699 (GRCm39) |
|
probably null |
Het |
| Strn |
TCCCTTACCCCAGTC |
TCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCCCCCTTACCCCAGTC |
17: 78,984,703 (GRCm39) |
|
probably null |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,031 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
C |
CAGA |
17: 48,097,041 (GRCm39) |
|
probably benign |
Het |
| Tomm5 |
CATCTTCCG |
CATCTTCCGAATCTTCCG |
4: 45,107,974 (GRCm39) |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATCAAGATGGTGGACCG -3'
(R):5'- ATAATCCTCACCTGGGAGGGTAG -3'
Sequencing Primer
(F):5'- ATGGTGGACCGGAGAACCC -3'
(R):5'- TTTCCTCCCCCAATATCCTGAGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation