Incidental Mutation 'R5602:Pdik1l'
| ID |
439067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdik1l
|
| Ensembl Gene |
ENSMUSG00000050890 |
| Gene Name |
PDLIM1 interacting kinase 1 like |
| Synonyms |
|
| MMRRC Submission |
043154-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5602 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
134002313-134015157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134011580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 164
(S164P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061234]
[ENSMUST00000105876]
[ENSMUST00000105877]
[ENSMUST00000127857]
[ENSMUST00000145006]
|
| AlphaFold |
Q8QZR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061234
AA Change: S88P
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000060381
Gene: ENSMUSG00000050890
AA Change: S88P
| 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 damaging
Transcript: ENSMUST00000105876
AA Change: S88P
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101502
Gene: ENSMUSG00000050890
AA Change: S88P
| 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 damaging
Transcript: ENSMUST00000105877
AA Change: S164P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101503
Gene: ENSMUSG00000050890
AA Change: S164P
| 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 |
possibly damaging
Transcript: ENSMUST00000127857
AA Change: S88P
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117719
Gene: ENSMUSG00000050890
AA Change: S88P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
G |
A |
2: 151,315,459 (GRCm39) |
S73F |
possibly damaging |
Het |
| 4932414N04Rik |
A |
T |
2: 68,578,712 (GRCm39) |
*753L |
probably null |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adam19 |
T |
C |
11: 46,027,142 (GRCm39) |
S592P |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,206,447 (GRCm39) |
K843R |
possibly damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,184,855 (GRCm39) |
T213S |
probably benign |
Het |
| Asb5 |
A |
G |
8: 55,038,974 (GRCm39) |
E280G |
probably benign |
Het |
| Becn1 |
T |
C |
11: 101,179,778 (GRCm39) |
D403G |
probably damaging |
Het |
| Ccr7 |
G |
T |
11: 99,036,315 (GRCm39) |
N202K |
probably benign |
Het |
| Cd36 |
T |
C |
5: 18,019,790 (GRCm39) |
T104A |
possibly damaging |
Het |
| Cnot4 |
C |
T |
6: 35,028,464 (GRCm39) |
W384* |
probably null |
Het |
| Col15a1 |
G |
A |
4: 47,312,087 (GRCm39) |
V1301M |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,204,391 (GRCm39) |
A1384S |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,758,698 (GRCm39) |
E1648G |
possibly damaging |
Het |
| Fbn1 |
G |
T |
2: 125,163,661 (GRCm39) |
A2065E |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,884,880 (GRCm39) |
Y2586C |
probably damaging |
Het |
| Galm |
T |
A |
17: 80,457,568 (GRCm39) |
Y28* |
probably null |
Het |
| Ggt7 |
A |
G |
2: 155,332,919 (GRCm39) |
V648A |
possibly damaging |
Het |
| Gm17067 |
T |
A |
7: 42,357,839 (GRCm39) |
D221V |
probably damaging |
Het |
| Gpr3 |
T |
C |
4: 132,937,805 (GRCm39) |
N289S |
probably damaging |
Het |
| Ighv11-2 |
A |
G |
12: 114,012,277 (GRCm39) |
|
probably benign |
Het |
| Ighv11-2 |
G |
A |
12: 114,012,099 (GRCm39) |
L39F |
probably damaging |
Het |
| Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,275,739 (GRCm39) |
N726K |
probably benign |
Het |
| Map4 |
T |
C |
9: 109,881,768 (GRCm39) |
S211P |
possibly damaging |
Het |
| Mlh1 |
A |
T |
9: 111,081,946 (GRCm39) |
L259Q |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,558,558 (GRCm39) |
E300G |
probably benign |
Het |
| Or8g34 |
A |
T |
9: 39,373,326 (GRCm39) |
M200L |
probably benign |
Het |
| Or8g54 |
T |
A |
9: 39,707,490 (GRCm39) |
V273E |
possibly damaging |
Het |
| Parva |
G |
A |
7: 112,166,972 (GRCm39) |
V182I |
probably benign |
Het |
| Pcdhgb4 |
T |
C |
18: 37,854,697 (GRCm39) |
I364T |
probably damaging |
Het |
| Pfas |
A |
T |
11: 68,881,871 (GRCm39) |
I938N |
probably benign |
Het |
| Plscr1l1 |
G |
A |
9: 92,234,721 (GRCm39) |
C152Y |
possibly damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Prob1 |
C |
T |
18: 35,787,079 (GRCm39) |
V392M |
possibly damaging |
Het |
| Rasgrf1 |
T |
C |
9: 89,793,624 (GRCm39) |
S134P |
possibly damaging |
Het |
| Rorb |
T |
A |
19: 18,955,301 (GRCm39) |
Y20F |
probably damaging |
Het |
| Rsph9 |
G |
T |
17: 46,445,909 (GRCm39) |
D220E |
probably damaging |
Het |
| Safb2 |
C |
A |
17: 56,882,630 (GRCm39) |
K334N |
possibly damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,027 (GRCm39) |
T634A |
probably benign |
Het |
| Scaf1 |
A |
G |
7: 44,657,007 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,221,255 (GRCm39) |
|
probably benign |
Het |
| Spata21 |
C |
T |
4: 140,824,210 (GRCm39) |
R158C |
probably benign |
Het |
| Srrm2 |
G |
A |
17: 24,038,311 (GRCm39) |
|
probably benign |
Het |
| Stk38l |
C |
A |
6: 146,659,998 (GRCm39) |
T10N |
probably benign |
Het |
| Supv3l1 |
G |
A |
10: 62,266,371 (GRCm39) |
P602S |
possibly damaging |
Het |
| Timm44 |
C |
T |
8: 4,316,769 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
A |
19: 41,093,420 (GRCm39) |
R465S |
possibly damaging |
Het |
| Tmem104 |
G |
A |
11: 115,095,950 (GRCm39) |
A164T |
probably damaging |
Het |
| Tmem151b |
A |
G |
17: 45,856,526 (GRCm39) |
S305P |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,625,839 (GRCm39) |
D114G |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,760,933 (GRCm39) |
M808K |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,225,056 (GRCm39) |
D801E |
possibly damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,751 (GRCm39) |
I480V |
probably benign |
Het |
| Zfp507 |
G |
T |
7: 35,475,663 (GRCm39) |
S58* |
probably null |
Het |
| Zfp768 |
T |
A |
7: 126,943,804 (GRCm39) |
D108V |
possibly 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 |
|
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 |
|
|
RF057:Pdik1l
|
UTSW |
4 |
134,006,679 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACCAGGCATAGCAGGTG -3'
(R):5'- AAGACCTCTGCGAGAGTAGC -3'
Sequencing Primer
(F):5'- AGCACAAGTTTAAGGCAGACAC -3'
(R):5'- CCGTGAAGAAAATTCGATGCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation