Incidental Mutation 'R6712:Pknox1'
| ID |
529184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pknox1
|
| Ensembl Gene |
ENSMUSG00000006705 |
| Gene Name |
Pbx/knotted 1 homeobox |
| Synonyms |
D17Wsu76e, PREP1 |
| MMRRC Submission |
044830-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6712 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
31783708-31826667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31814290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 205
(T205K)
|
| 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: T205K
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000094966
Gene: ENSMUSG00000006705
AA Change: T205K
| 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 |
noncoding transcript
Transcript: ENSMUST00000175709
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175806
AA Change: T205K
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134852
Gene: ENSMUSG00000006705
AA Change: T205K
| 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 |
probably benign
Transcript: ENSMUST00000176701
AA Change: T205K
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135804
Gene: ENSMUSG00000006705
AA Change: T205K
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
G |
A |
17: 32,551,862 (GRCm39) |
T443M |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,798,644 (GRCm39) |
V950D |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,733,852 (GRCm39) |
K3014E |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,318,908 (GRCm39) |
Y1586H |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,014,457 (GRCm39) |
I2010N |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,514,583 (GRCm39) |
M1446L |
probably benign |
Het |
| Fcmr |
T |
C |
1: 130,805,588 (GRCm39) |
L274P |
probably damaging |
Het |
| Foxn1 |
T |
G |
11: 78,252,085 (GRCm39) |
D382A |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,226,993 (GRCm39) |
R1721G |
possibly damaging |
Het |
| H2aj |
A |
G |
6: 136,785,524 (GRCm39) |
I63V |
probably benign |
Het |
| Mfsd9 |
T |
C |
1: 40,825,601 (GRCm39) |
|
probably null |
Het |
| Mis18a |
T |
C |
16: 90,524,045 (GRCm39) |
E39G |
possibly damaging |
Het |
| Mmp27 |
A |
T |
9: 7,572,177 (GRCm39) |
T126S |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Myo5a |
A |
C |
9: 75,120,182 (GRCm39) |
D1635A |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,253,645 (GRCm39) |
V11A |
probably benign |
Het |
| Nlrc4 |
A |
T |
17: 74,753,831 (GRCm39) |
M184K |
probably damaging |
Het |
| Or10h28 |
T |
G |
17: 33,488,242 (GRCm39) |
H181Q |
possibly damaging |
Het |
| Or52e15 |
A |
T |
7: 104,645,625 (GRCm39) |
I162K |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,488,051 (GRCm39) |
Q81K |
probably benign |
Het |
| Pfdn2 |
T |
A |
1: 171,185,419 (GRCm39) |
I97K |
probably damaging |
Het |
| Polh |
T |
C |
17: 46,501,655 (GRCm39) |
S179G |
probably benign |
Het |
| Ppp4r4 |
G |
A |
12: 103,562,702 (GRCm39) |
R557Q |
probably damaging |
Het |
| Sipa1 |
A |
T |
19: 5,710,847 (GRCm39) |
D54E |
possibly damaging |
Het |
| Tmc8 |
C |
A |
11: 117,675,639 (GRCm39) |
N185K |
probably benign |
Het |
| Tns1 |
C |
A |
1: 74,118,460 (GRCm39) |
E57* |
probably null |
Het |
| Tyro3 |
G |
A |
2: 119,635,335 (GRCm39) |
A209T |
probably null |
Het |
| Ube2f |
T |
A |
1: 91,204,171 (GRCm39) |
C116S |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,109,992 (GRCm39) |
T308A |
possibly damaging |
Het |
| Wwc2 |
T |
A |
8: 48,353,838 (GRCm39) |
M99L |
probably benign |
Het |
| Zfp516 |
C |
T |
18: 82,975,433 (GRCm39) |
R544C |
probably damaging |
Het |
| Zfp764l1 |
A |
T |
7: 126,991,482 (GRCm39) |
H168Q |
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 |
|
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 |
|
|
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'- GAAAGCCCATCTGTCACCTG -3'
(R):5'- AGGTATTGAAACTACTCTGGACTCC -3'
Sequencing Primer
(F):5'- ACTGCAACATTATGATACTGTTTCC -3'
(R):5'- GGACTCCAGCACTGTTATATCAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation