Incidental Mutation 'IGL02019:Pknox2'
| ID |
183891 |
| 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 # |
IGL02019
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
36802275-37058638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36834929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 180
(L180P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039674]
[ENSMUST00000080754]
[ENSMUST00000175938]
[ENSMUST00000177218]
|
| AlphaFold |
Q8BG99 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039674
AA Change: L180P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035806
Gene: ENSMUSG00000035934
AA Change: L180P
| 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: L180P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079578
Gene: ENSMUSG00000035934
AA Change: L180P
| 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 benign
Transcript: ENSMUST00000176471
AA Change: L180P
|
| SMART Domains |
Protein: ENSMUSP00000135249
Gene: ENSMUSG00000035934
AA Change: L180P
| 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: L180P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135581
Gene: ENSMUSG00000035934
AA Change: L180P
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
C |
T |
5: 115,017,645 (GRCm39) |
A178V |
possibly damaging |
Het |
| Acad11 |
A |
G |
9: 103,992,544 (GRCm39) |
I495M |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,192,202 (GRCm39) |
S91P |
probably benign |
Het |
| Agk |
A |
G |
6: 40,353,160 (GRCm39) |
I175V |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,566,235 (GRCm39) |
N727Y |
probably damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,680,195 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
G |
A |
1: 171,099,362 (GRCm39) |
G42D |
probably damaging |
Het |
| Brd10 |
A |
T |
19: 29,694,463 (GRCm39) |
S976T |
probably benign |
Het |
| Brip1 |
C |
T |
11: 86,088,775 (GRCm39) |
C42Y |
possibly damaging |
Het |
| Camkk1 |
T |
C |
11: 72,928,027 (GRCm39) |
F233L |
probably damaging |
Het |
| Cd300ld |
A |
T |
11: 114,878,227 (GRCm39) |
M95K |
probably damaging |
Het |
| Cdv3 |
A |
G |
9: 103,237,224 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
G |
T |
14: 75,968,044 (GRCm39) |
Q430K |
possibly damaging |
Het |
| D6Wsu163e |
G |
A |
6: 126,932,184 (GRCm39) |
G308S |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,365,111 (GRCm39) |
M1951T |
probably damaging |
Het |
| Elavl3 |
G |
A |
9: 21,948,014 (GRCm39) |
T51I |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,303 (GRCm39) |
C399* |
probably null |
Het |
| Ezh2 |
A |
T |
6: 47,528,835 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
C |
A |
10: 93,969,216 (GRCm39) |
T1161K |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,267,731 (GRCm39) |
H1193L |
possibly damaging |
Het |
| Gbp2b |
T |
A |
3: 142,312,751 (GRCm39) |
F378Y |
possibly damaging |
Het |
| Hectd2 |
G |
A |
19: 36,592,916 (GRCm39) |
V694M |
possibly damaging |
Het |
| Hook1 |
T |
A |
4: 95,910,434 (GRCm39) |
S683T |
probably benign |
Het |
| Ifi202b |
G |
A |
1: 173,802,550 (GRCm39) |
R95C |
possibly damaging |
Het |
| Kdm8 |
G |
T |
7: 125,051,658 (GRCm39) |
V84L |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,834,168 (GRCm39) |
|
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lrig1 |
G |
T |
6: 94,593,410 (GRCm39) |
Q424K |
probably damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,014,661 (GRCm39) |
M1049K |
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,133,377 (GRCm39) |
N103D |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,749,948 (GRCm39) |
L4377S |
possibly damaging |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Mug2 |
G |
A |
6: 122,024,394 (GRCm39) |
V489I |
probably benign |
Het |
| P2rx5 |
G |
T |
11: 73,058,803 (GRCm39) |
|
probably benign |
Het |
| Pfas |
A |
T |
11: 68,884,289 (GRCm39) |
|
probably benign |
Het |
| Psmd5 |
C |
A |
2: 34,744,286 (GRCm39) |
C412F |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,817,361 (GRCm39) |
D136V |
probably damaging |
Het |
| Rgl1 |
A |
G |
1: 152,404,220 (GRCm39) |
|
probably benign |
Het |
| Scube3 |
A |
G |
17: 28,386,658 (GRCm39) |
D721G |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,074,825 (GRCm39) |
V1466D |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,529,013 (GRCm39) |
L344Q |
probably damaging |
Het |
| Tctn1 |
A |
T |
5: 122,396,912 (GRCm39) |
I157N |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,409,965 (GRCm38) |
D877E |
probably benign |
Het |
| Vmn1r78 |
G |
A |
7: 11,886,634 (GRCm39) |
G82S |
probably damaging |
Het |
| Vnn1 |
T |
C |
10: 23,779,449 (GRCm39) |
F453L |
possibly damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
|
| Other mutations in Pknox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01894:Pknox2
|
APN |
9 |
36,835,038 (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