Incidental Mutation 'RF035:Pdik1l'
| ID |
604523 |
| 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 # |
RF035 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
134002313-134015157 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
CCACCA to CCACCAACACCA
at 134006821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118116
(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 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 |
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: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
T |
TTTGGCTGCC |
1: 82,891,310 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCCGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
G |
GGCT |
19: 5,475,266 (GRCm39) |
|
probably benign |
Het |
| Amfr |
GCC |
GCCGGCGCGAGCTCC |
8: 94,738,920 (GRCm39) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
TAT |
TATTATTATTATTATGAT |
3: 37,104,907 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,293 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
CTGTGGCTGTGGCTGTGGCTGTGG |
CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG |
19: 47,129,692 (GRCm39) |
|
probably benign |
Het |
| Chga |
G |
GCAT |
12: 102,527,686 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
CGC |
CGCTGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
CCG |
CCGGCG |
17: 24,674,169 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
C |
CTCAG |
6: 137,494,068 (GRCm39) |
|
probably null |
Het |
| Exd2 |
GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC |
GCAGCCACAGC |
12: 80,522,674 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
CAGCCAGAGC |
CAGC |
12: 80,522,729 (GRCm39) |
|
probably benign |
Het |
| Gm10447 |
AAAAAAAAAGAAAAA |
AAAAAA |
11: 53,347,165 (GRCm39) |
|
probably benign |
Het |
| Gm10521 |
CTCTCTCTCT |
CTCTCTCTCTCTCT |
1: 171,723,860 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
TGTG |
TGTGCGAGTG |
19: 11,489,137 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
CACACACACACACACACTTAC |
CAC |
14: 62,646,090 (GRCm39) |
|
probably benign |
Het |
| Ier5l |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
2: 30,363,832 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,285,782 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAG |
CAGCCAAAG |
1: 83,019,867 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACCACAGC |
CCACCACAGCCACAGTCACCACAGC |
1: 83,020,002 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,530,501 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
GCAACA |
GCAACAACA |
X: 70,162,418 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCGGC |
X: 70,162,456 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,444 (GRCm39) |
|
probably benign |
Het |
| Manbal |
CGATAGAAT |
C |
2: 157,237,932 (GRCm39) |
|
probably null |
Het |
| Map1a |
GCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA |
2: 121,136,782 (GRCm39) |
|
probably benign |
Het |
| Mcph1 |
CTCT |
CTCTTCT |
8: 18,702,541 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GATACACGTTAGCAGTGAGGAGCAAGCTGA |
GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA |
2: 119,458,060 (GRCm39) |
|
probably benign |
Het |
| Or2t49 |
TGGAGGTGGATTGG |
TG |
11: 58,393,208 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
CCAGGTG |
C |
11: 54,001,061 (GRCm39) |
|
probably benign |
Het |
| Polr1has |
CACCAC |
CACCACCCCCACCACCACCACAACCAC |
17: 37,275,958 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC |
GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,767 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
TCTCTCTCTCTCTCT |
TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT |
10: 84,694,344 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
GCTAAAAAAAAAAAAAAAAA |
G |
15: 36,010,981 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
AGG |
AGGGGG |
14: 52,386,850 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
| Strn |
AGTC |
AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC |
17: 78,984,714 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
AAGAT |
AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT |
18: 60,966,625 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,036 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
| Trav6d-5 |
ATTTTT |
ATTTTTTTTTT |
14: 53,032,791 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CAGGACTCCCTGTGCCCAACGG |
CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
| Ttf2 |
TTCT |
TTCTTCT |
3: 100,870,473 (GRCm39) |
|
probably benign |
Het |
| Vat1l |
C |
T |
8: 115,016,069 (GRCm39) |
L320F |
probably damaging |
Het |
| Xirp2 |
TT |
TTTAT |
2: 67,355,888 (GRCm39) |
|
probably benign |
Het |
| Yipf3 |
AGAGGA |
AGA |
17: 46,559,898 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCGT |
4: 147,910,188 (GRCm39) |
|
probably null |
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 |
|
|
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'- AGTAGTTTAAGATGCACAGAGGTTG -3'
(R):5'- AGGCAGATCTCTGAGTTCGAG -3'
Sequencing Primer
(F):5'- CTCAGGTCCTCAATAAGCATGGTG -3'
(R):5'- GGCCAGCCTGGTCTATAAAGTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation