Incidental Mutation 'R6583:Pnma8b'
| ID |
524230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnma8b
|
| Ensembl Gene |
ENSMUSG00000070802 |
| Gene Name |
PNMA family member 8B |
| Synonyms |
Pnmal2, EG434128 |
| MMRRC Submission |
044707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6583 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16678607-16682753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16679844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 276
(N276S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094807]
|
| AlphaFold |
G3X9N3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094807
AA Change: N276S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802
AA Change: N276S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNMA
|
1 |
152 |
4.1e-36 |
PFAM |
|
low complexity region
|
172 |
196 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
296 |
1.86e-6 |
PROSPERO |
|
SCOP:d1qbkb_
|
309 |
331 |
2e-3 |
SMART |
|
internal_repeat_1
|
343 |
402 |
1.86e-6 |
PROSPERO |
|
low complexity region
|
445 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
C |
3: 126,810,613 (GRCm39) |
I491S |
probably damaging |
Het |
| Armc12 |
A |
T |
17: 28,757,588 (GRCm39) |
Q240L |
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,637,272 (GRCm39) |
P1050S |
probably damaging |
Het |
| Col4a3 |
C |
A |
1: 82,619,197 (GRCm39) |
A42E |
unknown |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,436 (GRCm39) |
V28A |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,448,143 (GRCm39) |
S355P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,150,516 (GRCm39) |
V749A |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,792,688 (GRCm39) |
L606P |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,489,210 (GRCm39) |
S109P |
probably benign |
Het |
| Gdf7 |
T |
A |
12: 8,351,758 (GRCm39) |
Q59L |
unknown |
Het |
| M6pr |
T |
C |
6: 122,290,349 (GRCm39) |
V104A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,364,739 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,181,127 (GRCm39) |
K169R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,937 (GRCm39) |
D636G |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nfib |
T |
G |
4: 82,416,708 (GRCm39) |
D125A |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,332,117 (GRCm39) |
T393A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,506,260 (GRCm39) |
V248I |
possibly damaging |
Het |
| Paox |
T |
A |
7: 139,706,291 (GRCm39) |
N70K |
probably damaging |
Het |
| Ralgds |
G |
A |
2: 28,423,656 (GRCm39) |
A32T |
probably damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,591 (GRCm39) |
N446I |
possibly damaging |
Het |
| Soat1 |
T |
C |
1: 156,294,062 (GRCm39) |
|
probably null |
Het |
| Tmem87a |
A |
T |
2: 120,205,958 (GRCm39) |
V339E |
possibly damaging |
Het |
| Tmprss13 |
G |
T |
9: 45,256,603 (GRCm39) |
C516F |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,059,017 (GRCm39) |
T515A |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,351,752 (GRCm39) |
|
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,633 (GRCm39) |
D78Y |
probably damaging |
Het |
|
| Other mutations in Pnma8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Pnma8b
|
APN |
7 |
16,679,088 (GRCm39) |
missense |
unknown |
|
|
IGL02023:Pnma8b
|
APN |
7 |
16,679,616 (GRCm39) |
missense |
probably damaging |
0.97 |
|
FR4737:Pnma8b
|
UTSW |
7 |
16,679,931 (GRCm39) |
small deletion |
probably benign |
|
|
R0085:Pnma8b
|
UTSW |
7 |
16,679,474 (GRCm39) |
missense |
unknown |
|
|
R2069:Pnma8b
|
UTSW |
7 |
16,679,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2151:Pnma8b
|
UTSW |
7 |
16,679,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2321:Pnma8b
|
UTSW |
7 |
16,679,490 (GRCm39) |
missense |
unknown |
|
|
R2929:Pnma8b
|
UTSW |
7 |
16,680,617 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3738:Pnma8b
|
UTSW |
7 |
16,680,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3739:Pnma8b
|
UTSW |
7 |
16,680,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5185:Pnma8b
|
UTSW |
7 |
16,679,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5259:Pnma8b
|
UTSW |
7 |
16,679,199 (GRCm39) |
missense |
unknown |
|
|
R5908:Pnma8b
|
UTSW |
7 |
16,680,968 (GRCm39) |
missense |
unknown |
|
|
R5943:Pnma8b
|
UTSW |
7 |
16,680,362 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6101:Pnma8b
|
UTSW |
7 |
16,680,493 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6260:Pnma8b
|
UTSW |
7 |
16,680,158 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7007:Pnma8b
|
UTSW |
7 |
16,680,181 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7497:Pnma8b
|
UTSW |
7 |
16,678,874 (GRCm39) |
start gained |
probably benign |
|
|
R8231:Pnma8b
|
UTSW |
7 |
16,680,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8278:Pnma8b
|
UTSW |
7 |
16,680,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8685:Pnma8b
|
UTSW |
7 |
16,679,965 (GRCm39) |
missense |
unknown |
|
|
R9211:Pnma8b
|
UTSW |
7 |
16,679,589 (GRCm39) |
missense |
unknown |
|
|
R9236:Pnma8b
|
UTSW |
7 |
16,679,964 (GRCm39) |
missense |
unknown |
|
|
R9245:Pnma8b
|
UTSW |
7 |
16,680,843 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9267:Pnma8b
|
UTSW |
7 |
16,679,159 (GRCm39) |
missense |
unknown |
|
|
RF003:Pnma8b
|
UTSW |
7 |
16,679,941 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Pnma8b
|
UTSW |
7 |
16,680,735 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Pnma8b
|
UTSW |
7 |
16,680,893 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAGCGTAGATGAAGACCAG -3'
(R):5'- TCGGGGCTATCCATCACTTC -3'
Sequencing Primer
(F):5'- AGACCAGAGGGCCCTGTATG -3'
(R):5'- CCATTTTCCAGAGACTCGCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation