Incidental Mutation 'IGL02706:Pknox2'
| ID |
304348 |
| 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 # |
IGL02706
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
36802275-37058638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36847675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 114
(H114R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039674]
[ENSMUST00000080754]
[ENSMUST00000175938]
[ENSMUST00000177218]
[ENSMUST00000177444]
[ENSMUST00000188348]
[ENSMUST00000188057]
|
| AlphaFold |
Q8BG99 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039674
AA Change: H114R
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000035806
Gene: ENSMUSG00000035934
AA Change: H114R
| 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: ENSMUST00000080754
AA Change: H114R
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000079578
Gene: ENSMUSG00000035934
AA Change: H114R
| 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 |
noncoding transcript
Transcript: ENSMUST00000176562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176622
|
| 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 benign
Transcript: ENSMUST00000177218
AA Change: H114R
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135581
Gene: ENSMUSG00000035934
AA Change: H114R
| 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: ENSMUST00000177444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188348
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188057
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,517,966 (GRCm39) |
E781G |
probably benign |
Het |
| Abcc8 |
C |
T |
7: 45,816,345 (GRCm39) |
R265Q |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,370,027 (GRCm39) |
I193N |
probably benign |
Het |
| Atp6v1e2 |
A |
G |
17: 87,252,362 (GRCm39) |
I12T |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,347,818 (GRCm39) |
T757A |
probably damaging |
Het |
| Cldn15 |
A |
G |
5: 137,003,685 (GRCm39) |
K200R |
probably benign |
Het |
| Dip2b |
G |
T |
15: 100,113,192 (GRCm39) |
V1302F |
probably damaging |
Het |
| Dnajb6 |
T |
A |
5: 29,957,421 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dok1 |
T |
A |
6: 83,009,315 (GRCm39) |
E179V |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,403,482 (GRCm39) |
T342A |
probably damaging |
Het |
| Etf1 |
A |
T |
18: 35,064,690 (GRCm39) |
S6R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,250,506 (GRCm39) |
I987V |
probably benign |
Het |
| Gba2 |
C |
T |
4: 43,567,257 (GRCm39) |
G897S |
probably benign |
Het |
| Habp2 |
G |
T |
19: 56,298,570 (GRCm39) |
|
probably null |
Het |
| Hapln1 |
G |
T |
13: 89,753,578 (GRCm39) |
S248I |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,137,198 (GRCm39) |
D667G |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,359,222 (GRCm39) |
H1074L |
probably damaging |
Het |
| Kctd9 |
T |
C |
14: 67,962,130 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
A |
G |
17: 68,793,914 (GRCm39) |
D306G |
probably damaging |
Het |
| Lgalsl |
T |
C |
11: 20,780,090 (GRCm39) |
R49G |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,708,599 (GRCm39) |
S133N |
probably benign |
Het |
| Lrp8 |
A |
T |
4: 107,660,516 (GRCm39) |
R59* |
probably null |
Het |
| Mctp1 |
T |
C |
13: 76,971,188 (GRCm39) |
F629S |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,047,533 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
C |
3: 55,944,699 (GRCm39) |
H555R |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,522,147 (GRCm39) |
H630R |
possibly damaging |
Het |
| Nr3c2 |
A |
T |
8: 77,635,045 (GRCm39) |
|
probably null |
Het |
| Nubp2 |
A |
T |
17: 25,102,171 (GRCm39) |
V267E |
probably benign |
Het |
| Oacyl |
A |
T |
18: 65,882,792 (GRCm39) |
Y629F |
probably damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,731 (GRCm39) |
I43T |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,918,091 (GRCm39) |
H87Q |
probably damaging |
Het |
| Or5b119 |
A |
T |
19: 13,457,462 (GRCm39) |
Y33* |
probably null |
Het |
| Ppp2r1b |
A |
G |
9: 50,790,134 (GRCm39) |
D564G |
possibly damaging |
Het |
| Ppp3ca |
T |
G |
3: 136,611,079 (GRCm39) |
N367K |
possibly damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,852,518 (GRCm39) |
V525A |
probably damaging |
Het |
| Reps1 |
T |
G |
10: 17,998,763 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,444,207 (GRCm39) |
I973V |
possibly damaging |
Het |
| Ssh2 |
T |
A |
11: 77,344,232 (GRCm39) |
V739D |
possibly damaging |
Het |
| Tbc1d24 |
A |
G |
17: 24,404,395 (GRCm39) |
F250L |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,921,881 (GRCm39) |
H84Q |
possibly damaging |
Het |
| Usp34 |
T |
C |
11: 23,338,659 (GRCm39) |
|
probably benign |
Het |
| Zdhhc8 |
G |
T |
16: 18,042,758 (GRCm39) |
L481I |
probably damaging |
Het |
| Zfp574 |
A |
G |
7: 24,780,790 (GRCm39) |
H604R |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,076,256 (GRCm39) |
M63K |
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 |
|
IGL02019:Pknox2
|
APN |
9 |
36,834,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation