Mutagenetix > Incidental Mutations

Incidental Mutation 'RF034:Pdik1l'

604482

Institutional Source

Beutler Lab

Gene Symbol

Pdik1l

Ensembl Gene

ENSMUSG00000050890

Gene Name

PDLIM1 interacting kinase 1 like

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF034 (G1)

Quality Score

214.594

Status

Not validated

Chromosome

Chromosomal Location

134275002-134287895 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TTTT to TTTTGTTTTTGGTTT at 134279374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

probably null
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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	TTATTATGATTATTAC	3: 37,050,760		probably benign	Het
A030005L19Rik	TGTGGCTGC	TGTGGCTGCGGTGGCTGC	1: 82,913,580		probably benign	Het
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTACATCCTGGGCTGCT	4: 155,905,092		probably benign	Het
Alpk3	GAGAAGGCAC	G	7: 81,092,414		probably benign	Het
Cox7a2l	GGA	GGATGGGGA	17: 83,502,722		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510		probably benign	Het
Cyb5r4	CCCAGGGATGTGACAGACACACTG	CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG	9: 87,040,417		probably benign	Het
Cyb5r4	GA	GATGTGACAGACACACTGCCCAGGTA	9: 87,040,447		probably null	Het
Defb22	TGCGGCA	TGCGGCAGGGCTGGCCTTTGCGGCA	2: 152,485,832		probably benign	Het
Dnmt1	GGGCGGAGCACAGTTCCTACCTCGTT	GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT	9: 20,910,120		probably null	Het
Fam71e1	GGGTCTGAGGGAGGA	GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA	7: 44,500,523		probably null	Het
Fbrsl1	GTG	GTGCGTGTGCTGTTG	5: 110,378,149		probably benign	Het
Frem3	GATC	GATCATC	8: 80,615,238		probably benign	Het
Gabre	GCTC	GCTCTGTCTC	X: 72,270,762		probably benign	Het
Gm15155	CAA	CAACAACAAA	X: 156,345,640		probably null	Het
Igf1r	GGAGATGGAGC	GGAGATGGAGCTAGAGATGGAGC	7: 68,226,176		probably benign	Het
Krtap28-10	CACCACAGC	CACCACAGCCACAGCGACCACAGC	1: 83,042,282		probably benign	Het
Mamld1	AGC	AGCGGC	X: 71,118,835		probably benign	Het
Map1a	CCAGCTCCAGCTCCA	CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA	2: 121,306,304		probably benign	Het
Map1a	GCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA	2: 121,306,307		probably benign	Het
Neu1	TCTTCTA	T	17: 34,932,558		probably benign	Het
Nolc1	CAGCAGC	CAGCAGCAGAAGCAGC	19: 46,081,371		probably benign	Het
Olfr850	G	T	9: 19,477,632	A206E	possibly damaging	Het
Rassf6	CACTCATGGTCCTGTAGAGCAATGGGGATTC	CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,912		probably benign	Het
Rassf6	ATGGTCCTGTAGAGCAATGGGGATTC	ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,917		probably benign	Het
Rassf6	CTGTAGAGCAATGGGGATTC	CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC	5: 90,608,923		probably benign	Het
Rpgrip1	AGAGGAGGA	AGA	14: 52,149,526		probably benign	Het
Rprd2	AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC	AGAGGCTGTGGTGCTC	3: 95,766,320		probably benign	Het
Rsf1	CG	CGAGG	7: 97,579,908		probably benign	Het
Rtbdn	GCGGC	GCGGCATCGGC	8: 84,956,175		probably benign	Het
Smarca2	CA	CACCAAGA	19: 26,631,011		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,097		probably benign	Het
Tfeb	CAG	CAGTAG	17: 47,786,098		probably null	Het
Tmed6	AGC	AGCTGGC	8: 107,061,596		probably null	Het
Tomm5	TCTTCCGC	TCTTCCGCAGCTTCCGC	4: 45,107,976		probably benign	Het
Trappc9	TG	TGATGCTGCTGCTGCGG	15: 72,801,298		probably benign	Het

Other mutations in Pdik1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02439:Pdik1l	APN	4	134278704	missense	probably benign	0.11
FR4304:Pdik1l	UTSW	4	134279374	frame shift	probably null
FR4340:Pdik1l	UTSW	4	134279512	intron	probably benign
FR4342:Pdik1l	UTSW	4	134279509	intron	probably benign
FR4548:Pdik1l	UTSW	4	134279512	intron	probably benign
FR4589:Pdik1l	UTSW	4	134279368	frame shift	probably null
FR4589:Pdik1l	UTSW	4	134279369	frame shift	probably null
FR4737:Pdik1l	UTSW	4	134279367	frame shift	probably null
FR4737:Pdik1l	UTSW	4	134279506	intron	probably benign
FR4976:Pdik1l	UTSW	4	134279506	intron	probably benign
R1867:Pdik1l	UTSW	4	134278911	missense	probably damaging	1.00
R2106:Pdik1l	UTSW	4	134284254	missense	probably damaging	1.00
R2303:Pdik1l	UTSW	4	134284248	nonsense	probably null
R2398:Pdik1l	UTSW	4	134278399	missense	probably benign	0.01
R3162:Pdik1l	UTSW	4	134284250	missense	probably damaging	1.00
R3162:Pdik1l	UTSW	4	134284250	missense	probably damaging	1.00
R4515:Pdik1l	UTSW	4	134278896	missense	probably damaging	1.00
R4711:Pdik1l	UTSW	4	134278990	missense	probably benign	0.15
R5602:Pdik1l	UTSW	4	134284269	missense	probably damaging	0.99
R5822:Pdik1l	UTSW	4	134287163	missense	possibly damaging	0.53
R6031:Pdik1l	UTSW	4	134279041	missense	probably damaging	0.98
R6031:Pdik1l	UTSW	4	134279041	missense	probably damaging	0.98
R7517:Pdik1l	UTSW	4	134278425	missense	possibly damaging	0.83
R7705:Pdik1l	UTSW	4	134279493	missense	unknown
R8203:Pdik1l	UTSW	4	134279365	missense	unknown
R8524:Pdik1l	UTSW	4	134286610	missense	probably benign
RF002:Pdik1l	UTSW	4	134279375	frame shift	probably null
RF007:Pdik1l	UTSW	4	134279368	frame shift	probably null
RF008:Pdik1l	UTSW	4	134279511	intron	probably benign
RF022:Pdik1l	UTSW	4	134279367	frame shift	probably null
RF025:Pdik1l	UTSW	4	134286594	frame shift	probably null
RF026:Pdik1l	UTSW	4	134286594	intron	probably benign
RF030:Pdik1l	UTSW	4	134279516	intron	probably benign
RF031:Pdik1l	UTSW	4	134279374	frame shift	probably null
RF035:Pdik1l	UTSW	4	134279510	intron	probably benign
RF040:Pdik1l	UTSW	4	134279515	intron	probably benign
RF048:Pdik1l	UTSW	4	134279372	frame shift	probably null
RF056:Pdik1l	UTSW	4	134279502	intron	probably benign
RF056:Pdik1l	UTSW	4	134279516	intron	probably benign
RF057:Pdik1l	UTSW	4	134279368	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GTAGTAGTTTAAGATGCACAGAGGTTG -3'
(R):5'- GCAAGCTGCAGATTGACCTAAC -3'

Sequencing Primer
(F):5'- CTGAATTTACTGCTCTCACAGAGGAC -3'
(R):5'- AGCTGCAGATTGACCTAACGTTTTC -3'

Posted On

2019-12-04