Incidental Mutation 'IGL00693:Pno1'
| ID |
13077 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pno1
|
| Ensembl Gene |
ENSMUSG00000020116 |
| Gene Name |
partner of NOB1 homolog |
| Synonyms |
Imi3, Emi3, 1810003N24Rik, expressed during mesenchymal induction 3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
17153198-17161568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17161317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 64
(L64P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020317]
[ENSMUST00000046955]
|
| AlphaFold |
Q9CPS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020317
AA Change: L64P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020317
Gene: ENSMUSG00000020116
AA Change: L64P
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
153 |
226 |
8.92e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046955
|
| SMART Domains |
Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
55 |
96 |
6.88e0 |
SMART |
|
WD40
|
100 |
145 |
5.15e-2 |
SMART |
|
Blast:WD40
|
149 |
196 |
8e-27 |
BLAST |
|
WD40
|
199 |
240 |
2.54e2 |
SMART |
|
WD40
|
246 |
288 |
2.06e0 |
SMART |
|
WD40
|
310 |
350 |
7.7e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151431
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit eombryonic lethality between E3.5 and E6.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
G |
A |
19: 20,677,410 (GRCm39) |
P404S |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,696 (GRCm39) |
|
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,675,475 (GRCm39) |
Y1176H |
unknown |
Het |
| Dyrk3 |
T |
C |
1: 131,064,074 (GRCm39) |
I3V |
possibly damaging |
Het |
| Gpsm3 |
A |
G |
17: 34,810,247 (GRCm39) |
E149G |
probably damaging |
Het |
| Hsd3b6 |
A |
C |
3: 98,713,594 (GRCm39) |
L235R |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 107,033,768 (GRCm39) |
F238Y |
probably damaging |
Het |
| Kcnh7 |
C |
T |
2: 62,564,598 (GRCm39) |
R887K |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,327 (GRCm39) |
V47A |
probably benign |
Het |
| Lsm14b |
A |
G |
2: 179,674,419 (GRCm39) |
N241D |
probably damaging |
Het |
| Mtss1 |
T |
A |
15: 58,815,973 (GRCm39) |
D529V |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,475,969 (GRCm39) |
S283T |
probably benign |
Het |
| Odad2 |
C |
T |
18: 7,211,504 (GRCm39) |
G790D |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Proc |
A |
G |
18: 32,256,566 (GRCm39) |
V367A |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,569,879 (GRCm39) |
I964N |
probably damaging |
Het |
| Speer2 |
A |
T |
16: 69,657,406 (GRCm39) |
M79K |
probably benign |
Het |
| Tef |
T |
C |
15: 81,699,384 (GRCm39) |
S131P |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,283,907 (GRCm39) |
T581A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,665,884 (GRCm39) |
D1045E |
probably benign |
Het |
| Vsig8 |
T |
C |
1: 172,389,156 (GRCm39) |
V136A |
probably damaging |
Het |
| Wee1 |
A |
T |
7: 109,734,060 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pno1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01475:Pno1
|
APN |
11 |
17,160,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Pno1
|
APN |
11 |
17,154,513 (GRCm39) |
splice site |
probably null |
|
|
R0184:Pno1
|
UTSW |
11 |
17,161,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1302:Pno1
|
UTSW |
11 |
17,154,545 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1978:Pno1
|
UTSW |
11 |
17,154,519 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4345:Pno1
|
UTSW |
11 |
17,159,095 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4586:Pno1
|
UTSW |
11 |
17,161,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7027:Pno1
|
UTSW |
11 |
17,158,880 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7890:Pno1
|
UTSW |
11 |
17,161,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9376:Pno1
|
UTSW |
11 |
17,158,791 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2012-12-06 |
Incidental Mutation