Incidental Mutation 'RF057:Pdik1l'
| ID |
605296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdik1l
|
| Ensembl Gene |
ENSMUSG00000050890 |
| Gene Name |
PDLIM1 interacting kinase 1 like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF057 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
134002313-134015157 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TTTTTGTTTT to TTTTTGTTTTGGTTTTGTTTT
at 134006679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061234]
[ENSMUST00000105876]
[ENSMUST00000105877]
[ENSMUST00000127857]
[ENSMUST00000145006]
|
| AlphaFold |
Q8QZR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061234
|
| SMART Domains |
Protein: ENSMUSP00000060381
Gene: ENSMUSG00000050890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
8 |
106 |
3e-8 |
PFAM |
|
Pfam:Pkinase
|
8 |
328 |
2.2e-52 |
PFAM |
|
Pfam:Pkinase_Tyr
|
99 |
329 |
5.5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105876
|
| SMART Domains |
Protein: ENSMUSP00000101502
Gene: ENSMUSG00000050890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
8 |
106 |
3e-8 |
PFAM |
|
Pfam:Pkinase
|
8 |
328 |
2.2e-52 |
PFAM |
|
Pfam:Pkinase_Tyr
|
99 |
329 |
5.5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105877
|
| SMART Domains |
Protein: ENSMUSP00000101503
Gene: ENSMUSG00000050890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
84 |
184 |
2.2e-7 |
PFAM |
|
Pfam:Pkinase
|
84 |
402 |
4.5e-51 |
PFAM |
|
Pfam:Pkinase_Tyr
|
185 |
405 |
6.3e-23 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127857
|
| SMART Domains |
Protein: ENSMUSP00000117719
Gene: ENSMUSG00000050890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
8 |
113 |
3.4e-12 |
PFAM |
|
Pfam:Pkinase_Tyr
|
8 |
136 |
8.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145006
|
| SMART Domains |
Protein: ENSMUSP00000118116
Gene: ENSMUSG00000050890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
8 |
185 |
4.1e-24 |
PFAM |
|
Pfam:Pkinase
|
10 |
187 |
4.9e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030445D17Rik |
GCACATGCACACACA |
GCACA |
4: 136,189,617 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
AAGGCACCGAC |
A |
7: 80,742,165 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
CGGC |
CGGCGGTGGC |
18: 36,693,982 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
GCTGTGGC |
GCTGTGGCTGTGTCTGTGGC |
19: 47,129,709 (GRCm39) |
|
probably benign |
Het |
| Crtam |
TTCTTGATCTGAA |
T |
9: 40,895,650 (GRCm39) |
|
probably null |
Het |
| Cul9 |
CCT |
CCTACT |
17: 46,811,789 (GRCm39) |
|
probably null |
Het |
| Dmkn |
GAAGTGGTGGAAGTGGTGG |
GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG |
7: 30,466,613 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CGCCG |
CGCCGAAGCCG |
4: 141,602,080 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
CGCTC |
CGCTCGCTC |
6: 137,494,062 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
GGAGGA |
GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA |
7: 44,149,956 (GRCm39) |
|
probably null |
Het |
| Gm16519 |
AAGCAG |
AAGCAGCAG |
17: 71,236,326 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
CGCC |
CGCCGCC |
11: 99,277,025 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CCAACA |
CCAACAGTTCCCTCGCCTCTGTTACCCCACAAATCAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
CCCCA |
CCCCATCCCA |
9: 75,295,540 (GRCm39) |
|
probably null |
Het |
| Med12l |
GCA |
GCATCA |
3: 59,183,401 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GTCAGGCAGTGA |
GTCAGGCAGTGACTCAGGCAGTGA |
19: 42,064,545 (GRCm39) |
|
probably null |
Het |
| Prp2 |
CACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCA |
C |
6: 132,577,493 (GRCm39) |
|
probably null |
Het |
| Rtbdn |
GCAGCG |
GCAGCGACAGCG |
8: 85,682,795 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TTTCCCAGAGATCCCCTTGGC |
TTTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACCTTCCCAGAGATCCCCTTGGC |
18: 60,966,636 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
GAGATCCCCTTGGC |
GAGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCATAGATCCCCTTGGC |
18: 60,966,643 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TCCCAGAGATCCCCTTGGC |
TCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTTGCCCAGAGATCCCCTTGGC |
18: 60,966,638 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TTCCCAGAGATCCCCTTGGC |
TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTGTCCCAGAGATCCCCTTGGC |
18: 60,966,637 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
CAGAAT |
CAGAATCACCTCCCGTGGGCTTGCGAGAAT |
6: 72,593,052 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,144 (GRCm39) |
|
probably benign |
Het |
| Ttn |
ACCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTC |
2: 76,673,734 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
C |
CCCAGGCCCAGGG |
6: 125,013,459 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pdik1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02439:Pdik1l
|
APN |
4 |
134,006,015 (GRCm39) |
missense |
probably benign |
0.11 |
|
FR4304:Pdik1l
|
UTSW |
4 |
134,006,685 (GRCm39) |
frame shift |
probably null |
|
|
FR4340:Pdik1l
|
UTSW |
4 |
134,006,823 (GRCm39) |
intron |
probably benign |
|
|
FR4342:Pdik1l
|
UTSW |
4 |
134,006,820 (GRCm39) |
intron |
probably benign |
|
|
FR4548:Pdik1l
|
UTSW |
4 |
134,006,823 (GRCm39) |
intron |
probably benign |
|
|
FR4589:Pdik1l
|
UTSW |
4 |
134,006,680 (GRCm39) |
frame shift |
probably null |
|
|
FR4589:Pdik1l
|
UTSW |
4 |
134,006,679 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Pdik1l
|
UTSW |
4 |
134,006,817 (GRCm39) |
intron |
probably benign |
|
|
FR4737:Pdik1l
|
UTSW |
4 |
134,006,678 (GRCm39) |
frame shift |
probably null |
|
|
FR4976:Pdik1l
|
UTSW |
4 |
134,006,817 (GRCm39) |
intron |
probably benign |
|
|
R1867:Pdik1l
|
UTSW |
4 |
134,006,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Pdik1l
|
UTSW |
4 |
134,011,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Pdik1l
|
UTSW |
4 |
134,011,559 (GRCm39) |
nonsense |
probably null |
|
|
R2398:Pdik1l
|
UTSW |
4 |
134,005,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3162:Pdik1l
|
UTSW |
4 |
134,011,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Pdik1l
|
UTSW |
4 |
134,011,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Pdik1l
|
UTSW |
4 |
134,006,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4711:Pdik1l
|
UTSW |
4 |
134,006,301 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5602:Pdik1l
|
UTSW |
4 |
134,011,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5822:Pdik1l
|
UTSW |
4 |
134,014,474 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6031:Pdik1l
|
UTSW |
4 |
134,006,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6031:Pdik1l
|
UTSW |
4 |
134,006,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7517:Pdik1l
|
UTSW |
4 |
134,005,736 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7705:Pdik1l
|
UTSW |
4 |
134,006,804 (GRCm39) |
missense |
unknown |
|
|
R8203:Pdik1l
|
UTSW |
4 |
134,006,676 (GRCm39) |
missense |
unknown |
|
|
R8524:Pdik1l
|
UTSW |
4 |
134,013,921 (GRCm39) |
missense |
probably benign |
|
|
R9694:Pdik1l
|
UTSW |
4 |
134,006,711 (GRCm39) |
missense |
unknown |
|
|
R9743:Pdik1l
|
UTSW |
4 |
134,011,815 (GRCm39) |
missense |
probably benign |
|
|
RF002:Pdik1l
|
UTSW |
4 |
134,006,686 (GRCm39) |
frame shift |
probably null |
|
|
RF007:Pdik1l
|
UTSW |
4 |
134,006,679 (GRCm39) |
frame shift |
probably null |
|
|
RF008:Pdik1l
|
UTSW |
4 |
134,006,822 (GRCm39) |
intron |
probably benign |
|
|
RF022:Pdik1l
|
UTSW |
4 |
134,006,678 (GRCm39) |
frame shift |
probably null |
|
|
RF025:Pdik1l
|
UTSW |
4 |
134,013,905 (GRCm39) |
frame shift |
probably null |
|
|
RF026:Pdik1l
|
UTSW |
4 |
134,013,905 (GRCm39) |
intron |
probably benign |
|
|
RF030:Pdik1l
|
UTSW |
4 |
134,006,827 (GRCm39) |
intron |
probably benign |
|
|
RF031:Pdik1l
|
UTSW |
4 |
134,006,685 (GRCm39) |
frame shift |
probably null |
|
|
RF034:Pdik1l
|
UTSW |
4 |
134,006,685 (GRCm39) |
frame shift |
probably null |
|
|
RF035:Pdik1l
|
UTSW |
4 |
134,006,821 (GRCm39) |
intron |
probably benign |
|
|
RF040:Pdik1l
|
UTSW |
4 |
134,006,826 (GRCm39) |
intron |
probably benign |
|
|
RF048:Pdik1l
|
UTSW |
4 |
134,006,683 (GRCm39) |
frame shift |
probably null |
|
|
RF056:Pdik1l
|
UTSW |
4 |
134,006,827 (GRCm39) |
intron |
probably benign |
|
|
RF056:Pdik1l
|
UTSW |
4 |
134,006,813 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGTTTAAGATGCACAGAGGTTG -3'
(R):5'- TGCAGATTGACCTAACGTTTTCC -3'
Sequencing Primer
(F):5'- AGCCCAGCAGTTCTGAATTTACTG -3'
(R):5'- GATTGACCTAACGTTTTCCTTCTTTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation