Incidental Mutation 'R8203:Pdik1l'
| ID |
635758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdik1l
|
| Ensembl Gene |
ENSMUSG00000050890 |
| Gene Name |
PDLIM1 interacting kinase 1 like |
| Synonyms |
|
| MMRRC Submission |
067626-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8203 (G1)
|
| Quality Score |
211.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
134002313-134015157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 134006676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 154
(H154Q)
|
| 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 |
unknown
Transcript: ENSMUST00000127857
AA Change: H154Q
|
| SMART Domains |
Protein: ENSMUSP00000117719
Gene: ENSMUSG00000050890
AA Change: H154Q
| 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 |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,075,369 (GRCm39) |
I148T |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,776,414 (GRCm39) |
T307A |
probably damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,315,042 (GRCm39) |
D65G |
probably damaging |
Het |
| Aicda |
T |
C |
6: 122,538,076 (GRCm39) |
V78A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,257,579 (GRCm39) |
D1282G |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,583,781 (GRCm39) |
S1271P |
probably damaging |
Het |
| Atrn |
G |
A |
2: 130,802,469 (GRCm39) |
D537N |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,693,443 (GRCm39) |
S2017T |
probably benign |
Het |
| Cep170 |
T |
A |
1: 176,596,877 (GRCm39) |
Q493H |
probably benign |
Het |
| Cltc |
A |
T |
11: 86,594,986 (GRCm39) |
Y1371N |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,588,831 (GRCm39) |
T1095A |
possibly damaging |
Het |
| Cxcr5 |
T |
C |
9: 44,425,451 (GRCm39) |
M69V |
probably benign |
Het |
| Cyp2c69 |
A |
T |
19: 39,869,584 (GRCm39) |
V145E |
probably damaging |
Het |
| Ddx3y |
T |
C |
Y: 1,269,827 (GRCm39) |
E185G |
probably benign |
Het |
| Dgke |
G |
A |
11: 88,941,193 (GRCm39) |
A330V |
probably benign |
Het |
| Dyrk4 |
A |
G |
6: 126,871,797 (GRCm39) |
L157P |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,240,548 (GRCm39) |
S337R |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,789,916 (GRCm39) |
M805L |
possibly damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
T |
A |
2: 113,355,620 (GRCm39) |
M785K |
unknown |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Gabrg3 |
G |
A |
7: 56,423,008 (GRCm39) |
T230I |
possibly damaging |
Het |
| Gle1 |
A |
G |
2: 29,825,522 (GRCm39) |
D4G |
probably benign |
Het |
| Gm5468 |
T |
C |
15: 25,414,527 (GRCm39) |
S26P |
noncoding transcript |
Het |
| Igsf10 |
A |
T |
3: 59,236,254 (GRCm39) |
L1309Q |
probably benign |
Het |
| Lipf |
A |
G |
19: 33,944,283 (GRCm39) |
K164R |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,333 (GRCm39) |
T111K |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,696,599 (GRCm39) |
T399A |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,562,328 (GRCm39) |
I946V |
probably benign |
Het |
| Neb |
T |
A |
2: 52,039,259 (GRCm39) |
K6927* |
probably null |
Het |
| Nipal4 |
A |
T |
11: 46,041,147 (GRCm39) |
D349E |
probably damaging |
Het |
| Or12j2 |
A |
T |
7: 139,915,939 (GRCm39) |
T55S |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,844 (GRCm39) |
I150F |
probably benign |
Het |
| Or7g22 |
A |
G |
9: 19,049,170 (GRCm39) |
N294D |
probably damaging |
Het |
| Polr2m |
T |
G |
9: 71,386,768 (GRCm39) |
M338L |
probably benign |
Het |
| Rab3gap2 |
T |
C |
1: 184,999,376 (GRCm39) |
L995P |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,705,179 (GRCm39) |
H694Q |
probably benign |
Het |
| Sar1b |
A |
G |
11: 51,670,524 (GRCm39) |
K23E |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,437,519 (GRCm39) |
Y245* |
probably null |
Het |
| Shpk |
A |
C |
11: 73,104,904 (GRCm39) |
D171A |
probably benign |
Het |
| Slc2a7 |
G |
T |
4: 150,243,015 (GRCm39) |
E279* |
probably null |
Het |
| Slco4a1 |
T |
C |
2: 180,106,592 (GRCm39) |
V258A |
probably damaging |
Het |
| Srcin1 |
G |
T |
11: 97,457,539 (GRCm39) |
P62Q |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,606,476 (GRCm39) |
F823S |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tdrd9 |
T |
A |
12: 111,992,064 (GRCm39) |
V613E |
probably damaging |
Het |
| Tsc1 |
A |
G |
2: 28,563,007 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
A |
T |
9: 120,997,274 (GRCm39) |
M766K |
probably damaging |
Het |
| Wdr36 |
G |
T |
18: 32,985,136 (GRCm39) |
G481* |
probably null |
Het |
| Yme1l1 |
G |
A |
2: 23,054,538 (GRCm39) |
R119H |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,349,559 (GRCm39) |
T1644I |
probably damaging |
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 |
|
|
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'- GTAGTTTAAGATGCACAGAGGTTG -3'
(R):5'- AGCTGCAGATTGACCTAACG -3'
Sequencing Primer
(F):5'- AGCCCAGCAGTTCTGAATTTACTG -3'
(R):5'- AGCTGCAGATTGACCTAACGTTTTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation