Incidental Mutation 'R9359:Pknox1'
| ID |
708600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pknox1
|
| Ensembl Gene |
ENSMUSG00000006705 |
| Gene Name |
Pbx/knotted 1 homeobox |
| Synonyms |
D17Wsu76e, PREP1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9359 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31783708-31826667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31822229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 332
(T332M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097352]
[ENSMUST00000175806]
[ENSMUST00000176701]
|
| AlphaFold |
O70477 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097352
AA Change: T332M
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000094966
Gene: ENSMUSG00000006705
AA Change: T332M
| 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 |
possibly damaging
Transcript: ENSMUST00000175806
AA Change: T332M
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134852
Gene: ENSMUSG00000006705
AA Change: T332M
| 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 |
possibly damaging
Transcript: ENSMUST00000176701
AA Change: T332M
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135804
Gene: ENSMUSG00000006705
AA Change: T332M
| 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 |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (45/45) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt4 |
C |
T |
2: 151,780,892 (GRCm39) |
T380M |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,537,172 (GRCm39) |
N60K |
probably damaging |
Het |
| Atp6v0a4 |
G |
A |
6: 38,059,048 (GRCm39) |
T245I |
probably benign |
Het |
| Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
T |
C |
4: 95,950,170 (GRCm39) |
D277G |
probably damaging |
Het |
| Def8 |
A |
T |
8: 124,185,105 (GRCm39) |
I310F |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,171,927 (GRCm39) |
L503S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,770,125 (GRCm39) |
V1795A |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Gabbr1 |
A |
G |
17: 37,381,605 (GRCm39) |
T790A |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,914,425 (GRCm39) |
R453Q |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpld1 |
G |
A |
13: 25,163,712 (GRCm39) |
V502I |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,191,966 (GRCm39) |
H29R |
probably benign |
Het |
| Insr |
G |
C |
8: 3,208,717 (GRCm39) |
P1248R |
probably damaging |
Het |
| Ipcef1 |
C |
T |
10: 6,840,663 (GRCm39) |
D349N |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,156,004 (GRCm39) |
I990N |
possibly damaging |
Het |
| Malrd1 |
T |
C |
2: 15,618,988 (GRCm39) |
V284A |
|
Het |
| Maml2 |
C |
T |
9: 13,532,969 (GRCm39) |
Q728* |
probably null |
Het |
| Mex3d |
A |
T |
10: 80,217,581 (GRCm39) |
N545K |
|
Het |
| Mios |
T |
A |
6: 8,214,894 (GRCm39) |
V30E |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,449,060 (GRCm39) |
|
probably null |
Het |
| Naxd |
A |
G |
8: 11,562,968 (GRCm39) |
K303E |
possibly damaging |
Het |
| Or2w1 |
T |
C |
13: 21,317,865 (GRCm39) |
F307L |
probably benign |
Het |
| Or4l1 |
T |
C |
14: 50,166,906 (GRCm39) |
T32A |
probably benign |
Het |
| Or5a21 |
T |
A |
19: 12,310,803 (GRCm39) |
H139L |
possibly damaging |
Het |
| Or9q2 |
C |
T |
19: 13,772,200 (GRCm39) |
M258I |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Ptgdr |
A |
G |
14: 45,090,715 (GRCm39) |
S348P |
|
Het |
| Ptpdc1 |
T |
A |
13: 48,740,030 (GRCm39) |
E467V |
probably benign |
Het |
| Qsox1 |
A |
G |
1: 155,658,343 (GRCm39) |
S409P |
probably damaging |
Het |
| Rfx4 |
A |
G |
10: 84,740,921 (GRCm39) |
T680A |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,949,970 (GRCm39) |
T371A |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,583,669 (GRCm39) |
N540K |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 96,990,248 (GRCm39) |
S664R |
possibly damaging |
Het |
| Tbxa2r |
A |
G |
10: 81,168,958 (GRCm39) |
S216G |
probably damaging |
Het |
| Tgm4 |
C |
A |
9: 122,881,837 (GRCm39) |
S344R |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,887,823 (GRCm39) |
V328A |
possibly damaging |
Het |
| Trim61 |
T |
A |
8: 65,467,228 (GRCm39) |
Q11L |
probably damaging |
Het |
| Txndc2 |
G |
A |
17: 65,944,992 (GRCm39) |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,034,859 (GRCm39) |
E15G |
probably benign |
Het |
| Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
| Uspl1 |
G |
A |
5: 149,146,481 (GRCm39) |
V411M |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,816,049 (GRCm39) |
I778T |
possibly damaging |
Het |
| Vps54 |
A |
G |
11: 21,242,108 (GRCm39) |
T408A |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,650,799 (GRCm39) |
L42P |
possibly 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 |
|
|
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 |
|
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'- GCATGTGCCACCTTACTCAAC -3'
(R):5'- ATGGGCTCACAGTTGACAG -3'
Sequencing Primer
(F):5'- ATGTGCCACCTTACTCAACTAAATTC -3'
(R):5'- AGTTGACAGCAGCTGACCTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation