Incidental Mutation 'R0604:Pierce1'
ID |
55578 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pierce1
|
Ensembl Gene |
ENSMUSG00000026831 |
Gene Name |
piercer of microtubule wall 1 |
Synonyms |
1700007K13Rik |
MMRRC Submission |
038793-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R0604 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
28352013-28356336 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 28356103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 60
(R60L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083557
(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 |
possibly damaging
Transcript: ENSMUST00000086370
AA Change: R60L
PolyPhen 2
Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000083557 Gene: ENSMUSG00000026831 AA Change: R60L
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 |
possibly damaging
Transcript: ENSMUST00000127683
AA Change: R60L
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116111 Gene: ENSMUSG00000026831 AA Change: R60L
Domain | Start | End | E-Value | Type |
Pfam:DUF4490
|
33 |
122 |
1.5e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146332
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,775,451 (GRCm39) |
E302G |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Adrb2 |
G |
A |
18: 62,311,586 (GRCm39) |
T413I |
possibly damaging |
Het |
Aqr |
T |
C |
2: 113,961,085 (GRCm39) |
K725R |
probably benign |
Het |
Braf |
A |
G |
6: 39,600,631 (GRCm39) |
I662T |
probably damaging |
Het |
Ccdc178 |
A |
G |
18: 22,200,500 (GRCm39) |
S435P |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,763,170 (GRCm39) |
M2332V |
possibly damaging |
Het |
Clgn |
T |
C |
8: 84,150,823 (GRCm39) |
V496A |
probably benign |
Het |
Dnah17 |
A |
C |
11: 118,012,297 (GRCm39) |
S193R |
probably benign |
Het |
Dntt |
A |
G |
19: 41,041,588 (GRCm39) |
E424G |
probably benign |
Het |
Fam149a |
A |
G |
8: 45,798,045 (GRCm39) |
L492P |
probably damaging |
Het |
Fetub |
T |
C |
16: 22,754,410 (GRCm39) |
Y126H |
possibly damaging |
Het |
Fgfr3 |
A |
T |
5: 33,890,126 (GRCm39) |
Y96F |
probably damaging |
Het |
Gm4952 |
A |
G |
19: 12,602,036 (GRCm39) |
E148G |
probably benign |
Het |
Gucy2g |
T |
A |
19: 55,191,519 (GRCm39) |
L977F |
probably benign |
Het |
Il1r1 |
T |
C |
1: 40,321,406 (GRCm39) |
V6A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,708,189 (GRCm39) |
Q832K |
probably benign |
Het |
Lats1 |
T |
A |
10: 7,588,425 (GRCm39) |
F1014Y |
probably damaging |
Het |
Mcc |
G |
A |
18: 44,606,823 (GRCm39) |
A536V |
probably damaging |
Het |
Mtrf1 |
T |
C |
14: 79,653,327 (GRCm39) |
V334A |
possibly damaging |
Het |
Or1j21 |
T |
A |
2: 36,684,119 (GRCm39) |
Y290* |
probably null |
Het |
Or2t46 |
T |
A |
11: 58,472,174 (GRCm39) |
M168K |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or4p18 |
T |
C |
2: 88,232,727 (GRCm39) |
T184A |
probably benign |
Het |
Pard6g |
A |
G |
18: 80,160,423 (GRCm39) |
S179G |
probably damaging |
Het |
Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,290,997 (GRCm39) |
V402D |
probably damaging |
Het |
Rttn |
A |
G |
18: 88,995,882 (GRCm39) |
I222V |
probably damaging |
Het |
Sp9 |
T |
A |
2: 73,103,982 (GRCm39) |
S179T |
probably benign |
Het |
Tbc1d8 |
T |
A |
1: 39,444,407 (GRCm39) |
H184L |
probably damaging |
Het |
Vmn1r69 |
A |
G |
7: 10,314,581 (GRCm39) |
V50A |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,510,000 (GRCm39) |
F526L |
possibly 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 |
|
R6580:Pierce1
|
UTSW |
2 |
28,356,062 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTTGACCTCAGTAGCCACAGCCAC -3'
(R):5'- TTCATTGCCTAGCAACAGGACGCC -3'
Sequencing Primer
(F):5'- GTAGCCACAGCCACTTGAGAG -3'
(R):5'- CAGGCACAGACTTGATCTGG -3'
|
Posted On |
2013-07-11 |