Incidental Mutation 'R6580:Pierce1'
| ID |
524056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pierce1
|
| Ensembl Gene |
ENSMUSG00000026831 |
| Gene Name |
piercer of microtubule wall 1 |
| Synonyms |
1700007K13Rik |
| MMRRC Submission |
044704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6580 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28352013-28356336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28356062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 74
(W74R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038600]
[ENSMUST00000086370]
[ENSMUST00000127683]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038600
|
| SMART Domains |
Protein: ENSMUSP00000036725
Gene: ENSMUSG00000035772
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S2
|
81 |
182 |
4.6e-23 |
PFAM |
|
Pfam:Ribosomal_S2
|
180 |
257 |
7.3e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086370
AA Change: W74R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083557
Gene: ENSMUSG00000026831
AA Change: W74R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4490
|
35 |
137 |
1.4e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126242
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127683
AA Change: W74R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116111
Gene: ENSMUSG00000026831
AA Change: W74R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4490
|
33 |
122 |
1.5e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146332
|
| Meta Mutation Damage Score |
0.3964 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe laterality defects, including situs inversus totalis and heterotaxy with randomized situs and left and right isomerisms. Homozygous embryos with isomerisms die in utero due to associated cardiovascular malformations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
| Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
| Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
| Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
| Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
| Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
| Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
| Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
| Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
| Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
probably damaging |
Het |
|
| Other mutations in Pierce1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02732:Pierce1
|
APN |
2 |
28,355,192 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0423:Pierce1
|
UTSW |
2 |
28,356,036 (GRCm39) |
splice site |
probably benign |
|
|
R0604:Pierce1
|
UTSW |
2 |
28,356,103 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6819:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R7292:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R7351:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R7441:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R7569:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R7620:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R7802:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R7898:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R7959:Pierce1
|
UTSW |
2 |
28,352,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Pierce1
|
UTSW |
2 |
28,352,435 (GRCm39) |
nonsense |
probably null |
|
|
R9229:Pierce1
|
UTSW |
2 |
28,352,390 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9378:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R9423:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R9450:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
R9599:Pierce1
|
UTSW |
2 |
28,356,122 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGTGGTTGCTCAGACAG -3'
(R):5'- GATCTGGGCTAGTTTCCTGC -3'
Sequencing Primer
(F):5'- GCAGGACCCTAACAGTAATGATGAC -3'
(R):5'- TGCGGGAGGCCAAATGTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation