Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:Pdik1l'

604302

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) question?

Stock #

RF030 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

134002313-134015157 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to CCACCAA at 134006827 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: 99.5%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,475,254 (GRCm39)		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,475,263 (GRCm39)		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,693,966 (GRCm39)		probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,693,980 (GRCm39)		probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 21,433,916 (GRCm39)		probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,523,384 (GRCm39)		probably benign	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG	19: 47,129,692 (GRCm39)		probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,810,151 (GRCm39)		probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,811,795 (GRCm39)		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,462 (GRCm39)		probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)		probably benign	Het
Dmkn	GTG	GTGTTGGAAGTGGTGGAAGTGGTGGAAATG	7: 30,466,607 (GRCm39)		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eed	C	A	7: 89,604,240 (GRCm39)	A411S	probably benign	Het
Fer1l4	GGTC	G	2: 155,887,449 (GRCm39)		probably benign	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)		probably benign	Het
Gab3	CTTTT	CT	X: 74,043,583 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,632 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,631 (GRCm39)		probably benign	Het
Gab3	TCT	TCTCCT	X: 74,043,614 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,611 (GRCm39)		probably benign	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,325,037 (GRCm39)		probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,755,850 (GRCm39)		probably null	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,646,090 (GRCm39)		probably benign	Het
Gucy2d	C	CTGGGGCCTG	7: 98,108,241 (GRCm39)		probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647 (GRCm39)		probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Irag2	ATTG	ATTGAGCACGTTG	6: 145,119,514 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,285,802 (GRCm39)		probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 92,925,448 (GRCm39)		probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 92,925,651 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGTAG	X: 70,162,434 (GRCm39)		probably null	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,136,792 (GRCm39)		probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,136,798 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,410 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,421,898 (GRCm39)		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,694,344 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,473 (GRCm39)		probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,384,483 (GRCm39)		probably benign	Het
Six5	CGGA	C	7: 18,828,725 (GRCm39)		probably benign	Het
Spmap2l	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,164,248 (GRCm39)		probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,968,795 (GRCm39)		probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,966,640 (GRCm39)		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,966,646 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,038 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,037 (GRCm39)		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,593,019 (GRCm39)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,593,046 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,673,174 (GRCm39)		probably benign	Het
Tsen2	GGA	GGACGA	6: 115,537,028 (GRCm39)		probably benign	Het
Wdr97	AGGAGGAGG	AG	15: 76,247,365 (GRCm39)		probably null	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (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
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'- AGGCAGATCTCTGAGTTCGAG -3'

Sequencing Primer
(F):5'- CTCAGGTCCTCAATAAGCATGGTG -3'
(R):5'- GGCCAGCCTGGTCTATAAAGTG -3'

Posted On

2019-12-04