Incidental Mutation 'IGL02070:Pknox1'
| ID |
285447 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pknox1
|
| Ensembl Gene |
ENSMUSG00000006705 |
| Gene Name |
Pbx/knotted 1 homeobox |
| Synonyms |
D17Wsu76e, PREP1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
31783708-31826667 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 31822339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097352]
[ENSMUST00000175806]
[ENSMUST00000176701]
|
| AlphaFold |
O70477 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097352
|
| SMART Domains |
Protein: ENSMUSP00000094966
Gene: ENSMUSG00000006705
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meis_PKNOX_N
|
80 |
165 |
1.7e-39 |
PFAM |
|
low complexity region
|
208 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
252 |
N/A |
INTRINSIC |
|
HOX
|
259 |
324 |
9.8e-12 |
SMART |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175806
|
| SMART Domains |
Protein: ENSMUSP00000134852
Gene: ENSMUSG00000006705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
252 |
N/A |
INTRINSIC |
|
HOX
|
259 |
324 |
9.8e-12 |
SMART |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176513
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176701
|
| SMART Domains |
Protein: ENSMUSP00000135804
Gene: ENSMUSG00000006705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
252 |
N/A |
INTRINSIC |
|
HOX
|
259 |
324 |
9.8e-12 |
SMART |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during fetal growth and development with variable penetrance, decreased body weight, and impaired T cell development. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(80) : Targeted, knock-out(1) Gene trapped(79) |
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,343,336 (GRCm39) |
Y204H |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,316,293 (GRCm39) |
T583K |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,628,385 (GRCm39) |
Q2948K |
possibly damaging |
Het |
| Auts2 |
C |
T |
5: 131,499,259 (GRCm39) |
R327Q |
probably damaging |
Het |
| Card14 |
A |
C |
11: 119,235,530 (GRCm39) |
E988A |
probably damaging |
Het |
| Ccl25 |
T |
C |
8: 4,398,700 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
A |
C |
3: 104,918,582 (GRCm39) |
V86G |
probably damaging |
Het |
| Cyb5r2 |
G |
A |
7: 107,350,394 (GRCm39) |
T213I |
probably damaging |
Het |
| Ear6 |
A |
G |
14: 52,091,903 (GRCm39) |
H150R |
probably damaging |
Het |
| Ecm2 |
T |
C |
13: 49,671,846 (GRCm39) |
C116R |
probably damaging |
Het |
| Gabrr2 |
G |
T |
4: 33,095,340 (GRCm39) |
E385* |
probably null |
Het |
| Hyal5 |
T |
A |
6: 24,876,961 (GRCm39) |
V278D |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,408,380 (GRCm39) |
L181P |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 117,982,523 (GRCm39) |
I53V |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,015,986 (GRCm39) |
Y368H |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,833,496 (GRCm39) |
V365A |
probably damaging |
Het |
| Nexmif |
G |
T |
X: 103,126,817 (GRCm39) |
H1509Q |
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,804 (GRCm39) |
S24L |
probably damaging |
Het |
| Optc |
T |
A |
1: 133,828,914 (GRCm39) |
I178F |
probably damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,346 (GRCm39) |
I90N |
probably damaging |
Het |
| Or56a42-ps1 |
G |
T |
7: 104,776,254 (GRCm39) |
L85I |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,466,700 (GRCm39) |
N1535K |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,597 (GRCm39) |
N464I |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,416,406 (GRCm39) |
V1681I |
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,104 (GRCm39) |
E566G |
probably damaging |
Het |
| Ppa2 |
T |
C |
3: 133,083,623 (GRCm39) |
F327S |
probably damaging |
Het |
| Rab39b |
G |
T |
X: 74,618,309 (GRCm39) |
L174M |
probably damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,526 (GRCm39) |
Y48* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sar1a |
T |
A |
10: 61,520,673 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
A |
17: 52,047,095 (GRCm39) |
D740V |
probably damaging |
Het |
| Sema3f |
G |
A |
9: 107,569,440 (GRCm39) |
T128I |
probably damaging |
Het |
| Snx1 |
A |
T |
9: 66,005,731 (GRCm39) |
S129R |
probably damaging |
Het |
| Sptb |
T |
A |
12: 76,652,313 (GRCm39) |
K1641N |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,095,979 (GRCm39) |
E305G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Taar7d |
A |
T |
10: 23,904,152 (GRCm39) |
I345F |
probably benign |
Het |
| Tes |
T |
C |
6: 17,099,779 (GRCm39) |
L258P |
probably damaging |
Het |
| Trav9-4 |
A |
T |
14: 53,913,817 (GRCm39) |
T24S |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,657,739 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,919,646 (GRCm39) |
T207S |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,311 (GRCm39) |
S447G |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,707,644 (GRCm39) |
L234P |
probably damaging |
Het |
|
| Other mutations in Pknox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Pknox1
|
APN |
17 |
31,818,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01830:Pknox1
|
APN |
17 |
31,814,284 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02309:Pknox1
|
APN |
17 |
31,809,683 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02707:Pknox1
|
APN |
17 |
31,821,793 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
3-1:Pknox1
|
UTSW |
17 |
31,807,436 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0001:Pknox1
|
UTSW |
17 |
31,818,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0147:Pknox1
|
UTSW |
17 |
31,823,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0148:Pknox1
|
UTSW |
17 |
31,823,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0388:Pknox1
|
UTSW |
17 |
31,822,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Pknox1
|
UTSW |
17 |
31,811,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0920:Pknox1
|
UTSW |
17 |
31,815,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1428:Pknox1
|
UTSW |
17 |
31,811,066 (GRCm39) |
splice site |
probably benign |
|
|
R1563:Pknox1
|
UTSW |
17 |
31,814,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4199:Pknox1
|
UTSW |
17 |
31,821,790 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4200:Pknox1
|
UTSW |
17 |
31,818,584 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4665:Pknox1
|
UTSW |
17 |
31,814,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4700:Pknox1
|
UTSW |
17 |
31,822,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Pknox1
|
UTSW |
17 |
31,809,687 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5127:Pknox1
|
UTSW |
17 |
31,809,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6220:Pknox1
|
UTSW |
17 |
31,822,177 (GRCm39) |
nonsense |
probably null |
|
|
R6712:Pknox1
|
UTSW |
17 |
31,814,290 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6865:Pknox1
|
UTSW |
17 |
31,807,534 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7186:Pknox1
|
UTSW |
17 |
31,822,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Pknox1
|
UTSW |
17 |
31,809,624 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8781:Pknox1
|
UTSW |
17 |
31,821,837 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8865:Pknox1
|
UTSW |
17 |
31,818,520 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9032:Pknox1
|
UTSW |
17 |
31,822,229 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9085:Pknox1
|
UTSW |
17 |
31,822,229 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9265:Pknox1
|
UTSW |
17 |
31,809,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9359:Pknox1
|
UTSW |
17 |
31,822,229 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9401:Pknox1
|
UTSW |
17 |
31,802,752 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9516:Pknox1
|
UTSW |
17 |
31,822,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation