Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Pdik1l'

602551

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 #

RF002 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

134002313-134015157 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TTT to TTTGTTTTTGTGTT at 134006686 bp (GRCm39)

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

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: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,263 (GRCm39)		probably benign	Het
Angptl1	A	T	1: 156,684,794 (GRCm39)	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 52,043,050 (GRCm39)		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,653 (GRCm39)		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,162,675 (GRCm39)		probably benign	Het
Car13	T	C	3: 14,719,974 (GRCm39)	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,619,805 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cdh26	T	C	2: 178,108,424 (GRCm39)	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,527,680 (GRCm39)		probably benign	Het
Col11a1	A	T	3: 114,010,650 (GRCm39)	I1689L	unknown	Het
Dnah6	T	G	6: 73,078,872 (GRCm39)	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,674,160 (GRCm39)		probably benign	Het
Fah	A	C	7: 84,238,836 (GRCm39)	N336K	probably damaging	Het
Fbxo11	A	T	17: 88,303,481 (GRCm39)	I664K		Het
Fcgbp	A	G	7: 27,789,180 (GRCm39)	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 71,313,663 (GRCm39)		probably null	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm1110	A	G	9: 26,831,936 (GRCm39)	Y72H	probably damaging	Het
Inpp5e	C	T	2: 26,298,389 (GRCm39)	A71T	possibly damaging	Het
Iqcm	C	T	8: 76,304,527 (GRCm39)	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 92,925,590 (GRCm39)		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 92,925,606 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,808,948 (GRCm39)	D206G	probably benign	Het
Map4k5	A	T	12: 69,903,630 (GRCm39)	D58E	probably damaging	Het
Mapkapk2	A	G	1: 130,984,250 (GRCm39)	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,702,545 (GRCm39)		probably benign	Het
Men1	T	C	19: 6,390,146 (GRCm39)	S600P	probably damaging	Het
Mllt1	C	T	17: 57,203,300 (GRCm39)	V394M	probably benign	Het
Mllt1	C	A	17: 57,203,301 (GRCm39)	M393I	possibly damaging	Het
Nacc1	T	C	8: 85,402,848 (GRCm39)	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,891,047 (GRCm39)		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,050 (GRCm39)		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,801,434 (GRCm39)		probably benign	Het
Or5b122	T	A	19: 13,563,415 (GRCm39)	I206N	probably damaging	Het
Parp2	A	G	14: 51,054,843 (GRCm39)	E262G	probably damaging	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,504,788 (GRCm39)	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,600,829 (GRCm39)	D810N	probably damaging	Het
Prpf4b	T	A	13: 35,068,219 (GRCm39)	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,756,784 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,776,078 (GRCm39)	E208G	probably benign	Het
Smurf2	G	T	11: 106,743,413 (GRCm39)	P211Q	probably benign	Het
Snx25	C	A	8: 46,569,218 (GRCm39)		probably null	Het
Spata6	T	A	4: 111,685,502 (GRCm39)	M469K	probably benign	Het
Spta1	G	T	1: 174,058,926 (GRCm39)	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564 (GRCm39)		probably benign	Het
Stard8	GAG	GAGTAG	X: 98,110,121 (GRCm39)		probably null	Het
Tfeb	AGC	AGCGGC	17: 48,097,027 (GRCm39)		probably benign	Het
Tlcd1	T	A	11: 78,071,020 (GRCm39)	L203Q	probably benign	Het
Tlr11	T	C	14: 50,598,682 (GRCm39)	F223L	possibly damaging	Het
Usp48	T	A	4: 137,333,106 (GRCm39)	V100D	probably damaging	Het
Vinac1	A	G	2: 128,880,714 (GRCm39)	F404S		Het
Vmn2r56	G	A	7: 12,428,757 (GRCm39)	T503I	probably benign	Het
Vps18	T	C	2: 119,127,871 (GRCm39)	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp706	T	A	15: 37,003,949 (GRCm39)	Y39F	probably benign	Het
Zhx3	T	A	2: 160,623,726 (GRCm39)	N147I	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
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
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'- TCTACAAGCTGTGAAGGATGGG -3'
(R):5'- GCAGATTGACCTAACGTTTTCC -3'

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

Posted On

2019-12-04