Incidental Mutation 'R4199:Pknox1'
ID |
318696 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pknox1
|
Ensembl Gene |
ENSMUSG00000006705 |
Gene Name |
Pbx/knotted 1 homeobox |
Synonyms |
D17Wsu76e, PREP1 |
MMRRC Submission |
041029-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4199 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
31783708-31826667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 31821790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 294
(Q294K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097352]
[ENSMUST00000175806]
[ENSMUST00000176701]
|
AlphaFold |
O70477 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097352
AA Change: Q294K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000094966 Gene: ENSMUSG00000006705 AA Change: Q294K
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 damaging
Transcript: ENSMUST00000175806
AA Change: Q294K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134852 Gene: ENSMUSG00000006705 AA Change: Q294K
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 damaging
Transcript: ENSMUST00000176701
AA Change: Q294K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000135804 Gene: ENSMUSG00000006705 AA Change: Q294K
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
C |
G |
18: 36,794,101 (GRCm39) |
|
probably benign |
Het |
Cbarp |
G |
T |
10: 79,971,326 (GRCm39) |
H173Q |
probably damaging |
Het |
Ccna1 |
G |
A |
3: 54,954,736 (GRCm39) |
A177V |
possibly damaging |
Het |
Ces1f |
A |
G |
8: 93,983,517 (GRCm39) |
F497L |
probably benign |
Het |
Cic |
TCCCCC |
TCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably null |
Het |
Disc1 |
C |
T |
8: 125,875,198 (GRCm39) |
T556I |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
Dnmt1 |
A |
G |
9: 20,849,414 (GRCm39) |
S63P |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,913,364 (GRCm39) |
A121T |
probably benign |
Het |
Eps8 |
T |
C |
6: 137,491,325 (GRCm39) |
N351S |
probably damaging |
Het |
Fbxo34 |
T |
A |
14: 47,768,454 (GRCm39) |
W605R |
probably damaging |
Het |
Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
Gal3st3 |
T |
A |
19: 5,357,808 (GRCm39) |
Y394* |
probably null |
Het |
Gga1 |
A |
G |
15: 78,773,275 (GRCm39) |
E301G |
probably damaging |
Het |
Ifitm5 |
T |
A |
7: 140,529,149 (GRCm39) |
*153Y |
probably null |
Het |
Ighg2b |
G |
T |
12: 113,270,907 (GRCm39) |
P110Q |
probably damaging |
Het |
Il17rb |
C |
T |
14: 29,718,601 (GRCm39) |
D494N |
probably benign |
Het |
Irf2bp2 |
C |
A |
8: 127,318,313 (GRCm39) |
A418S |
probably damaging |
Het |
Lcn9 |
A |
G |
2: 25,714,773 (GRCm39) |
T171A |
probably benign |
Het |
Lcorl |
T |
C |
5: 45,891,130 (GRCm39) |
K408E |
possibly damaging |
Het |
Myh14 |
T |
A |
7: 44,264,927 (GRCm39) |
R1653* |
probably null |
Het |
Naa16 |
A |
T |
14: 79,593,311 (GRCm39) |
H420Q |
probably damaging |
Het |
Nol8 |
T |
A |
13: 49,815,224 (GRCm39) |
V426E |
possibly damaging |
Het |
Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Papln |
C |
T |
12: 83,830,166 (GRCm39) |
T1012I |
probably null |
Het |
Pkd1 |
A |
G |
17: 24,789,004 (GRCm39) |
T921A |
probably benign |
Het |
Ppp2ca |
A |
G |
11: 51,989,928 (GRCm39) |
N18S |
probably benign |
Het |
Serpinb9d |
A |
G |
13: 33,386,657 (GRCm39) |
|
probably null |
Het |
Sfxn5 |
T |
A |
6: 85,192,724 (GRCm39) |
E319V |
probably benign |
Het |
Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
Spef2 |
A |
G |
15: 9,667,366 (GRCm39) |
F774S |
probably damaging |
Het |
Syp |
A |
G |
X: 7,506,166 (GRCm39) |
|
probably null |
Het |
Zfp276 |
A |
G |
8: 123,994,564 (GRCm39) |
T544A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAATGTTTCTAAAGCAAGGGC -3'
(R):5'- GACACGCTGTGCATTCATGG -3'
Sequencing Primer
(F):5'- ACAGGTCCACATGTTGTGC -3'
(R):5'- CATTCATGGGCGCACTGTGTC -3'
|
Posted On |
2015-06-10 |