Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Pdik1l'

332839

Institutional Source

Beutler Lab

Gene Symbol

Pdik1l

Ensembl Gene

ENSMUSG00000050890

Gene Name

PDLIM1 interacting kinase 1 like

Synonyms

MMRRC Submission

041589-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134275002-134287895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134278896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 75 (N75S)

Ref Sequence

ENSEMBL: ENSMUSP00000118116 (fasta)

Gene Model

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

AlphaFold

Q8QZR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061234
AA Change: N169S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060381
Gene: ENSMUSG00000050890
AA Change: N169S

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: ENSMUST00000105876
AA Change: N169S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101502
Gene: ENSMUSG00000050890
AA Change: N169S

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: N245S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101503
Gene: ENSMUSG00000050890
AA Change: N245S

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

noncoding transcript
Transcript: ENSMUST00000142504

Predicted Effect

probably damaging
Transcript: ENSMUST00000145006
AA Change: N75S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118116
Gene: ENSMUSG00000050890
AA Change: N75S

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

0.9531

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	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
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
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'- AAAATGTCAGCTTTGGCGGTG -3'
(R):5'- ATCCCAGAAGCGCCTATTATTTG -3'

Sequencing Primer
(F):5'- CACTTCGGGAGCCATGTAGAAGTC -3'
(R):5'- CAGAAGCGCCTATTATTTGTGGTTTG -3'

Posted On

2015-08-18