Incidental Mutation 'R4200:Pknox1'
| ID |
318738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pknox1
|
| Ensembl Gene |
ENSMUSG00000006705 |
| Gene Name |
Pbx/knotted 1 homeobox |
| Synonyms |
D17Wsu76e, PREP1 |
| MMRRC Submission |
041030-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4200 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31783708-31826667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31818584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 272
(N272K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097352]
[ENSMUST00000175806]
[ENSMUST00000176701]
|
| AlphaFold |
O70477 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097352
AA Change: N272K
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000094966
Gene: ENSMUSG00000006705
AA Change: N272K
| 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
AA Change: N272K
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000134852
Gene: ENSMUSG00000006705
AA Change: N272K
| 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
AA Change: N272K
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135804
Gene: ENSMUSG00000006705
AA Change: N272K
| 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 |
|
| Meta Mutation Damage Score |
0.1834 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (40/40) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,946,955 (GRCm39) |
Y218N |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,227,537 (GRCm39) |
E1214G |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
| Asxl1 |
C |
A |
2: 153,242,026 (GRCm39) |
L859I |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,019,791 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
C |
A |
1: 90,729,105 (GRCm39) |
V1279L |
probably benign |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Etl4 |
C |
A |
2: 20,786,694 (GRCm39) |
H481Q |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
| Gm3336 |
A |
T |
8: 71,173,261 (GRCm39) |
D91V |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,716,344 (GRCm39) |
V256G |
possibly damaging |
Het |
| Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
| Ifi203 |
A |
C |
1: 173,751,681 (GRCm39) |
I380S |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
| Mboat7 |
C |
A |
7: 3,688,752 (GRCm39) |
A259S |
possibly damaging |
Het |
| Mroh8 |
C |
T |
2: 157,083,730 (GRCm39) |
V381M |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,412,662 (GRCm39) |
C1869* |
probably null |
Het |
| Nfatc4 |
C |
T |
14: 56,069,489 (GRCm39) |
R672W |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,027,218 (GRCm39) |
I200T |
probably damaging |
Het |
| Olr1 |
A |
G |
6: 129,479,068 (GRCm39) |
V50A |
probably damaging |
Het |
| Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
| Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,035 (GRCm39) |
I277V |
possibly damaging |
Het |
| Psg23 |
T |
C |
7: 18,345,990 (GRCm39) |
D235G |
probably damaging |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Tgm2 |
C |
A |
2: 157,974,410 (GRCm39) |
R207L |
probably benign |
Het |
| Trim29 |
G |
T |
9: 43,222,677 (GRCm39) |
E169* |
probably null |
Het |
| Ttc24 |
T |
C |
3: 87,981,824 (GRCm39) |
T81A |
probably benign |
Het |
| Ttll1 |
A |
T |
15: 83,376,778 (GRCm39) |
I315N |
probably damaging |
Het |
| Ttll12 |
T |
C |
15: 83,461,214 (GRCm39) |
N602D |
probably damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,101 (GRCm39) |
V151E |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,797 (GRCm39) |
D390E |
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,348,012 (GRCm39) |
T851A |
probably benign |
Het |
| Zfp58 |
T |
G |
13: 67,639,440 (GRCm39) |
R350S |
probably benign |
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 |
|
IGL02070:Pknox1
|
APN |
17 |
31,822,339 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGGGTTTCAGCACATGCC -3'
(R):5'- TGTGCTCAGTCCTCACCATG -3'
Sequencing Primer
(F):5'- CTTGGTAAGGCCTCCATCTGAAG -3'
(R):5'- GGCCACAGCATAGTATCAACACTTAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation