Incidental Mutation 'R2321:Pnma8b'
| ID |
245640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnma8b
|
| Ensembl Gene |
ENSMUSG00000070802 |
| Gene Name |
PNMA family member 8B |
| Synonyms |
Pnmal2, EG434128 |
| MMRRC Submission |
040313-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R2321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16678607-16682753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 16679490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 158
(R158L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094807]
|
| AlphaFold |
G3X9N3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000094807
AA Change: R158L
|
| SMART Domains |
Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802
AA Change: R158L
| 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 |
|
| Meta Mutation Damage Score |
0.1186 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abcf2 |
A |
T |
5: 24,772,251 (GRCm39) |
Y492* |
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,106,132 (GRCm39) |
V994A |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,231,733 (GRCm39) |
|
probably benign |
Het |
| Bhlha15 |
T |
C |
5: 144,128,014 (GRCm39) |
L42P |
probably damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,134 (GRCm39) |
A43S |
probably benign |
Het |
| Cpq |
A |
G |
15: 33,594,291 (GRCm39) |
H434R |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,822 (GRCm39) |
E994G |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,715,672 (GRCm39) |
L263S |
probably benign |
Het |
| Dnajc12 |
G |
T |
10: 63,242,990 (GRCm39) |
|
probably benign |
Het |
| Fbxo32 |
T |
C |
15: 58,054,689 (GRCm39) |
I215V |
possibly damaging |
Het |
| Krtap17-1 |
T |
C |
11: 99,884,746 (GRCm39) |
D7G |
unknown |
Het |
| Men1 |
A |
G |
19: 6,389,868 (GRCm39) |
D466G |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,933,436 (GRCm39) |
F624I |
possibly damaging |
Het |
| Ncam1 |
A |
C |
9: 49,456,132 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,107 (GRCm39) |
N268S |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,925,858 (GRCm39) |
L11* |
probably null |
Het |
| Plekhg4 |
T |
C |
8: 106,104,172 (GRCm39) |
S447P |
probably benign |
Het |
| Ppp1r2 |
A |
T |
16: 31,084,121 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
G |
A |
12: 11,507,058 (GRCm39) |
G327R |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,390,863 (GRCm39) |
T208A |
unknown |
Het |
| Reln |
T |
C |
5: 22,120,018 (GRCm39) |
Y2878C |
probably damaging |
Het |
| Rnps1 |
T |
A |
17: 24,641,142 (GRCm39) |
F181I |
probably damaging |
Het |
| Senp6 |
A |
C |
9: 80,031,022 (GRCm39) |
I575L |
possibly damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,995,592 (GRCm39) |
D330G |
probably damaging |
Het |
| Slamf9 |
G |
T |
1: 172,304,980 (GRCm39) |
C198F |
probably damaging |
Het |
| Slc22a13 |
A |
T |
9: 119,024,694 (GRCm39) |
V261D |
possibly damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,590,543 (GRCm39) |
V370A |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,899,332 (GRCm39) |
M7T |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,192,100 (GRCm39) |
N778S |
possibly damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,046,506 (GRCm39) |
Y582N |
probably damaging |
Het |
| Tmem131l |
T |
A |
3: 83,843,330 (GRCm39) |
H508L |
probably damaging |
Het |
| Tmem71 |
T |
G |
15: 66,423,849 (GRCm39) |
D139A |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,324,229 (GRCm39) |
R418G |
possibly damaging |
Het |
| Wdr64 |
A |
C |
1: 175,622,653 (GRCm39) |
K810T |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,356,056 (GRCm39) |
Y427* |
probably null |
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 |
|
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 |
|
R6583:Pnma8b
|
UTSW |
7 |
16,679,844 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- GCCATACCTATCCACATTAGGGG -3'
(R):5'- GGTCTTCATCTACGCTCAGGTC -3'
Sequencing Primer
(F):5'- CAAGATGCGCGGGTCCTTAG -3'
(R):5'- GCTCAGGTCCTCTGCGTAGATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation