Mutagenetix > Incidental Mutation

Incidental Mutation 'R7517:Pdik1l'

582511

Institutional Source

Beutler Lab

Gene Symbol

Pdik1l

Ensembl Gene

ENSMUSG00000050890

Gene Name

PDLIM1 interacting kinase 1 like

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7517 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134275002-134287895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134278425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 326 (E326V)

Ref Sequence

ENSEMBL: ENSMUSP00000060381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061234] [ENSMUST00000105876] [ENSMUST00000105877] [ENSMUST00000127857] [ENSMUST00000145006]

AlphaFold

Q8QZR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061234
AA Change: E326V

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060381
Gene: ENSMUSG00000050890
AA Change: E326V

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

possibly damaging
Transcript: ENSMUST00000105876
AA Change: E326V

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101502
Gene: ENSMUSG00000050890
AA Change: E326V

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: E402V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101503
Gene: ENSMUSG00000050890
AA Change: E402V

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

Meta Mutation Damage Score

0.1890

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	A	T	14: 31,715,374	V578E	possibly damaging	Het
Arhgap35	A	T	7: 16,562,207	C978S	probably benign	Het
Asph	A	T	4: 9,517,697	V475E	probably damaging	Het
Atf7ip2	T	A	16: 10,241,535		probably null	Het
Bace1	A	T	9: 45,860,261	D491V	probably benign	Het
Birc2	A	G	9: 7,819,423	I496T	probably benign	Het
Cacna2d4	C	T	6: 119,271,921	R448C	probably benign	Het
Ccdc181	T	C	1: 164,280,420	F224S	probably damaging	Het
Cdan1	C	T	2: 120,727,924	R469Q	probably damaging	Het
Ddx21	G	A	10: 62,588,790	P544L	probably damaging	Het
Epas1	C	A	17: 86,831,098	T874N	possibly damaging	Het
Fam13b	A	T	18: 34,494,607	D180E	probably damaging	Het
Fcgbp	G	A	7: 28,085,369	V285M	probably damaging	Het
Gcn1l1	T	G	5: 115,619,696	L2487V	probably benign	Het
Gm19410	C	T	8: 35,773,618	A216V	possibly damaging	Het
Gm4871	G	T	5: 145,032,620	R30S	probably damaging	Het
Gtf2ird1	T	C	5: 134,362,525	D899G	probably benign	Het
Hipk3	T	C	2: 104,434,714	T674A	probably benign	Het
Hnrnph3	A	G	10: 63,018,895	L39S	unknown	Het
Ift122	T	C	6: 115,890,582	V431A	probably benign	Het
Il1f8	A	G	2: 24,159,878	H167R	probably benign	Het
Lce3e	T	A	3: 92,967,835	C33S	unknown	Het
Lrrc26	T	C	2: 25,290,533	I182T	probably benign	Het
Magi1	T	C	6: 93,708,208	R730G	probably damaging	Het
Meis3	G	T	7: 16,177,818	V102F	probably damaging	Het
Mpp7	G	A	18: 7,440,183	Q263*	probably null	Het
Myo7b	A	T	18: 32,013,267	I155N	probably damaging	Het
Nrip1	A	T	16: 76,291,184	*1162K	probably null	Het
Olfr1104	A	C	2: 87,022,142	V134G	probably benign	Het
Olfr1300-ps1	T	C	2: 111,692,099	F194L	unknown	Het
Olfr401	T	A	11: 74,121,509	D73E	probably damaging	Het
Phrf1	T	C	7: 141,256,610	M265T	unknown	Het
Piezo2	A	T	18: 63,082,925	N1222K	possibly damaging	Het
Pkd1	G	A	17: 24,580,419	V2871M	probably damaging	Het
Pon2	T	G	6: 5,268,997	N226H	possibly damaging	Het
Rftn2	G	T	1: 55,195,549	D338E	probably damaging	Het
Rnf123	A	T	9: 108,070,274	Y171*	probably null	Het
Ror2	A	T	13: 53,110,865	N730K	possibly damaging	Het
Serpinb6c	T	A	13: 33,895,295	N138I	probably damaging	Het
Smco1	A	T	16: 32,273,967	H152L	possibly damaging	Het
Tgm3	T	G	2: 130,041,764	S447R	probably benign	Het
Topbp1	A	G	9: 103,332,733	K860E	possibly damaging	Het
Uba7	C	A	9: 107,976,698		probably benign	Het
Ucp3	A	G	7: 100,481,882	N181D	probably damaging	Het
Unc13b	C	A	4: 43,215,765	S21R	probably benign	Het
Usp34	T	A	11: 23,446,968	S2395R		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
R7705:Pdik1l	UTSW	4	134279493	missense	unknown
R8203:Pdik1l	UTSW	4	134279365	missense	unknown
R8524:Pdik1l	UTSW	4	134286610	missense	probably benign
R9694:Pdik1l	UTSW	4	134279400	missense	unknown
R9743:Pdik1l	UTSW	4	134284504	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
RF034: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'- AAAATGGCCTGCATGGATTAAG -3'
(R):5'- AGGAGCTCTTGGGGAGTTAC -3'

Sequencing Primer
(F):5'- TGGCCTGCATGGATTAAGAAAAATG -3'
(R):5'- CTCTTGGGGAGTTACGTAAAGCAG -3'

Posted On

2019-10-17