Incidental Mutation 'R7802:Pierce1'
| ID |
600557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pierce1
|
| Ensembl Gene |
ENSMUSG00000026831 |
| Gene Name |
piercer of microtubule wall 1 |
| Synonyms |
1700007K13Rik |
| MMRRC Submission |
045857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R7802 (G1)
|
| Quality Score |
130.474 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28352013-28356336 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (14 aa in frame mutation) |
| DNA Base Change (assembly) |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC to TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC
at 28356122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000086370
|
| SMART Domains |
Protein: ENSMUSP00000083557
Gene: ENSMUSG00000026831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4490
|
35 |
137 |
1.4e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127683
|
| SMART Domains |
Protein: ENSMUSP00000116111
Gene: ENSMUSG00000026831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4490
|
33 |
122 |
1.5e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (35/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,650,438 (GRCm39) |
V12A |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,165,518 (GRCm39) |
F983S |
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,720,808 (GRCm39) |
I312T |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,439,632 (GRCm39) |
W711R |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 33,961,227 (GRCm39) |
F436L |
probably benign |
Het |
| Epha1 |
C |
T |
6: 42,338,875 (GRCm39) |
R641Q |
possibly damaging |
Het |
| Ercc6 |
C |
A |
14: 32,239,260 (GRCm39) |
A116E |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,281,423 (GRCm39) |
E611G |
probably benign |
Het |
| Galnt16 |
T |
G |
12: 80,628,021 (GRCm39) |
I239S |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,175 (GRCm39) |
R76G |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,813,838 (GRCm39) |
Y2657C |
probably damaging |
Het |
| Mapkapk2 |
T |
C |
1: 130,984,639 (GRCm39) |
I238V |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,866,655 (GRCm39) |
S570P |
probably benign |
Het |
| Mrap |
C |
T |
16: 90,546,247 (GRCm39) |
T112M |
probably benign |
Het |
| Nadsyn1 |
T |
C |
7: 143,359,763 (GRCm39) |
Q403R |
probably benign |
Het |
| Nostrin |
T |
C |
2: 69,019,356 (GRCm39) |
V467A |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,710,119 (GRCm39) |
|
probably null |
Het |
| Parp16 |
A |
G |
9: 65,137,179 (GRCm39) |
N135S |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,211,137 (GRCm39) |
|
probably null |
Het |
| Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
| Psmc5 |
T |
C |
11: 106,152,538 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
T |
7: 97,310,979 (GRCm39) |
V570F |
|
Het |
| Rundc3a |
A |
G |
11: 102,290,835 (GRCm39) |
E306G |
probably benign |
Het |
| Serpinb6b |
C |
T |
13: 33,155,579 (GRCm39) |
|
|
Het |
| Setx |
A |
G |
2: 29,037,033 (GRCm39) |
T1173A |
probably benign |
Het |
| Slamf8 |
A |
G |
1: 172,415,677 (GRCm39) |
S54P |
probably damaging |
Het |
| Slc5a2 |
A |
C |
7: 127,870,970 (GRCm39) |
D570A |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 13,060,700 (GRCm39) |
Q7L |
possibly damaging |
Het |
| Stt3b |
G |
T |
9: 115,105,949 (GRCm39) |
S175R |
probably damaging |
Het |
| Taar6 |
T |
A |
10: 23,861,151 (GRCm39) |
I132F |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,689,500 (GRCm39) |
V2029A |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,880,401 (GRCm39) |
|
probably benign |
Het |
| Tmt1a |
A |
T |
15: 100,203,182 (GRCm39) |
N152I |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,013,758 (GRCm39) |
C336* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,768,015 (GRCm39) |
T3028M |
unknown |
Het |
| Vmn2r25 |
A |
T |
6: 123,828,791 (GRCm39) |
I161N |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,643,640 (GRCm39) |
C2394R |
|
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 |
|
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 |
|
|
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'- AAGGTTCATGACTGGCTCC -3'
(R):5'- CAGCAGGCACAGACTTGATC -3'
Sequencing Primer
(F):5'- CTTTTGACCTCAGTAGCCACAG -3'
(R):5'- AGACTTGATCTGGGCTAGTTTCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation