Incidental Mutation 'IGL01894:Pknox2'
| ID |
179344 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pknox2
|
| Ensembl Gene |
ENSMUSG00000035934 |
| Gene Name |
Pbx/knotted 1 homeobox 2 |
| Synonyms |
D230005H23Rik, Prep2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.740)
|
| Stock # |
IGL01894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
36802275-37058638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36835038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 144
(H144N)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039674]
[ENSMUST00000080754]
[ENSMUST00000175938]
[ENSMUST00000177218]
|
| AlphaFold |
Q8BG99 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039674
AA Change: H144N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035806
Gene: ENSMUSG00000035934
AA Change: H144N
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
288 |
353 |
8.54e-12 |
SMART |
|
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080754
AA Change: H144N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079578
Gene: ENSMUSG00000035934
AA Change: H144N
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
288 |
353 |
8.54e-12 |
SMART |
|
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175938
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176471
AA Change: H144N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135249
Gene: ENSMUSG00000035934
AA Change: H144N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meis_PKNOX_N
|
96 |
181 |
4.6e-42 |
PFAM |
|
HOX
|
288 |
353 |
8.54e-12 |
SMART |
|
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177080
|
| SMART Domains |
Protein: ENSMUSP00000135444
Gene: ENSMUSG00000035934
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
259 |
324 |
4.4e-14 |
SMART |
|
low complexity region
|
386 |
395 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177218
AA Change: H144N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135581
Gene: ENSMUSG00000035934
AA Change: H144N
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
288 |
353 |
8.54e-12 |
SMART |
|
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
465 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,324,865 (GRCm39) |
I530L |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,177,954 (GRCm39) |
D653G |
probably benign |
Het |
| Car13 |
T |
C |
3: 14,726,525 (GRCm39) |
F227S |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,417,747 (GRCm39) |
N300S |
probably benign |
Het |
| Fat3 |
C |
T |
9: 16,287,145 (GRCm39) |
V793I |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpa33 |
T |
A |
1: 165,992,785 (GRCm39) |
D299E |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,098,648 (GRCm39) |
V40I |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,705,121 (GRCm39) |
H1455R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,122,828 (GRCm39) |
K751E |
possibly damaging |
Het |
| Nek5 |
T |
A |
8: 22,603,835 (GRCm39) |
H114L |
probably damaging |
Het |
| Nipal1 |
G |
A |
5: 72,820,882 (GRCm39) |
A37T |
probably benign |
Het |
| Or13a24 |
T |
C |
7: 140,154,683 (GRCm39) |
Y206H |
possibly damaging |
Het |
| Or5b101 |
G |
T |
19: 13,005,649 (GRCm39) |
L15I |
probably damaging |
Het |
| Or5b96 |
T |
C |
19: 12,867,007 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,504,175 (GRCm39) |
Y622H |
possibly damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,559,397 (GRCm39) |
Y526C |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,557 (GRCm39) |
D54G |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,093 (GRCm39) |
T167I |
probably benign |
Het |
| Slc22a30 |
G |
T |
19: 8,364,021 (GRCm39) |
H218Q |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,113,664 (GRCm39) |
S878P |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,323,775 (GRCm39) |
C362* |
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
C |
T |
5: 113,710,357 (GRCm39) |
R294W |
probably damaging |
Het |
|
| Other mutations in Pknox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02019:Pknox2
|
APN |
9 |
36,834,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02706:Pknox2
|
APN |
9 |
36,847,675 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03018:Pknox2
|
APN |
9 |
36,865,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03374:Pknox2
|
APN |
9 |
36,834,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4494001:Pknox2
|
UTSW |
9 |
36,865,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0585:Pknox2
|
UTSW |
9 |
36,821,056 (GRCm39) |
splice site |
probably benign |
|
|
R1786:Pknox2
|
UTSW |
9 |
36,820,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Pknox2
|
UTSW |
9 |
36,866,127 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1861:Pknox2
|
UTSW |
9 |
36,834,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Pknox2
|
UTSW |
9 |
36,821,816 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2696:Pknox2
|
UTSW |
9 |
36,820,987 (GRCm39) |
nonsense |
probably null |
|
|
R2843:Pknox2
|
UTSW |
9 |
36,805,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4576:Pknox2
|
UTSW |
9 |
36,834,844 (GRCm39) |
intron |
probably benign |
|
|
R4632:Pknox2
|
UTSW |
9 |
36,805,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4705:Pknox2
|
UTSW |
9 |
36,834,934 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4754:Pknox2
|
UTSW |
9 |
36,821,016 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5974:Pknox2
|
UTSW |
9 |
36,847,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5984:Pknox2
|
UTSW |
9 |
36,835,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Pknox2
|
UTSW |
9 |
36,820,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Pknox2
|
UTSW |
9 |
36,868,364 (GRCm39) |
intron |
probably benign |
|
|
R7488:Pknox2
|
UTSW |
9 |
36,866,127 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7769:Pknox2
|
UTSW |
9 |
36,806,602 (GRCm39) |
splice site |
probably null |
|
|
R8221:Pknox2
|
UTSW |
9 |
36,821,040 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8296:Pknox2
|
UTSW |
9 |
36,822,459 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8470:Pknox2
|
UTSW |
9 |
36,834,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Pknox2
|
UTSW |
9 |
36,821,887 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8906:Pknox2
|
UTSW |
9 |
36,804,167 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9026:Pknox2
|
UTSW |
9 |
36,821,044 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9401:Pknox2
|
UTSW |
9 |
36,835,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Pknox2
|
UTSW |
9 |
36,822,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9565:Pknox2
|
UTSW |
9 |
36,835,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9582:Pknox2
|
UTSW |
9 |
36,804,252 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF016:Pknox2
|
UTSW |
9 |
36,820,905 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF061:Pknox2
|
UTSW |
9 |
36,820,905 (GRCm39) |
critical splice donor site |
probably benign |
|
|
X0063:Pknox2
|
UTSW |
9 |
36,835,065 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2014-05-07 |
Incidental Mutation