Incidental Mutation 'R5822:Pdik1l'
| ID |
501598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdik1l
|
| Ensembl Gene |
ENSMUSG00000050890 |
| Gene Name |
PDLIM1 interacting kinase 1 like |
| Synonyms |
|
| MMRRC Submission |
044052-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5822 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
134002313-134015157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 134014474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 11
(E11K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101503
(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 |
possibly damaging
Transcript: ENSMUST00000105877
AA Change: E11K
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101503
Gene: ENSMUSG00000050890
AA Change: E11K
| 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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000142504
|
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8a |
C |
T |
11: 109,921,705 (GRCm39) |
E1450K |
probably damaging |
Het |
| B4galnt2 |
T |
C |
11: 95,756,985 (GRCm39) |
Y482C |
probably damaging |
Het |
| Bud23 |
A |
G |
5: 135,092,775 (GRCm39) |
F9L |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,039,816 (GRCm39) |
E1214V |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,861,823 (GRCm39) |
M1T |
probably null |
Het |
| Chkb |
T |
C |
15: 89,313,715 (GRCm39) |
E30G |
probably benign |
Het |
| Crp |
A |
C |
1: 172,525,635 (GRCm39) |
|
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,708,670 (GRCm39) |
R375G |
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,436,976 (GRCm39) |
S90L |
probably benign |
Het |
| Flnc |
A |
C |
6: 29,459,429 (GRCm39) |
I2510L |
probably damaging |
Het |
| Ftdc1 |
C |
A |
16: 58,436,075 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
T |
A |
15: 6,692,707 (GRCm39) |
|
probably benign |
Het |
| Gbp3 |
C |
T |
3: 142,272,239 (GRCm39) |
P247L |
probably benign |
Het |
| Ggn |
C |
T |
7: 28,871,981 (GRCm39) |
P454S |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,352,894 (GRCm39) |
S2127T |
probably benign |
Het |
| Ipo11 |
A |
G |
13: 106,984,926 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
G |
A |
2: 62,546,582 (GRCm39) |
R1000W |
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
| Klc3 |
C |
T |
7: 19,129,724 (GRCm39) |
|
probably null |
Het |
| Lst1 |
A |
T |
17: 35,407,359 (GRCm39) |
M3K |
unknown |
Het |
| Madd |
C |
T |
2: 90,982,878 (GRCm39) |
R1355Q |
probably damaging |
Het |
| Map3k10 |
A |
G |
7: 27,356,159 (GRCm39) |
L920P |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,109 (GRCm39) |
V423A |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,869,112 (GRCm39) |
D302G |
possibly damaging |
Het |
| Nkapl |
A |
C |
13: 21,652,593 (GRCm39) |
S7A |
unknown |
Het |
| Npas2 |
A |
G |
1: 39,386,647 (GRCm39) |
S639G |
probably benign |
Het |
| Nr1h5 |
T |
G |
3: 102,856,644 (GRCm39) |
H260P |
probably damaging |
Het |
| Or2g25 |
T |
C |
17: 37,971,122 (GRCm39) |
Y34C |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,464 (GRCm39) |
L306Q |
possibly damaging |
Het |
| Or4c35 |
T |
C |
2: 89,808,787 (GRCm39) |
S222P |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,623,087 (GRCm39) |
M163V |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,249 (GRCm39) |
L1142P |
probably damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,172,727 (GRCm39) |
V555A |
probably damaging |
Het |
| Ppp6c |
G |
A |
2: 39,090,064 (GRCm39) |
Q81* |
probably null |
Het |
| Pramel18 |
A |
G |
4: 101,767,440 (GRCm39) |
M230V |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,001,444 (GRCm39) |
Y1178F |
probably benign |
Het |
| Relch |
G |
A |
1: 105,646,581 (GRCm39) |
V660M |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,339,886 (GRCm39) |
L860Q |
probably damaging |
Het |
| Sdr39u1 |
A |
G |
14: 56,135,196 (GRCm39) |
V249A |
probably benign |
Het |
| Serhl |
T |
C |
15: 83,000,528 (GRCm39) |
V305A |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,851,654 (GRCm39) |
I201T |
probably damaging |
Het |
| Stk32a |
A |
T |
18: 43,446,552 (GRCm39) |
E334V |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,745,529 (GRCm39) |
L67P |
probably damaging |
Het |
| Tnnt1 |
A |
T |
7: 4,519,345 (GRCm39) |
L12* |
probably null |
Het |
| Trim80 |
C |
T |
11: 115,338,747 (GRCm39) |
R526C |
probably damaging |
Het |
| Unc5b |
A |
T |
10: 60,608,306 (GRCm39) |
F635I |
possibly damaging |
Het |
| Utp20 |
T |
G |
10: 88,653,147 (GRCm39) |
N311T |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,982,457 (GRCm39) |
T74A |
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 |
|
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 |
|
|
RF057:Pdik1l
|
UTSW |
4 |
134,006,679 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTCGCTTCAACTCCTGG -3'
(R):5'- TCGGTAGGTCTGAAGAGGGC -3'
Sequencing Primer
(F):5'- TTCAACTCCTGGCGGCTG -3'
(R):5'- AGCATTGGTCCGCTCTGC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation