Mutagenetix > Incidental Mutations

Incidental Mutation 'R1995:Dpysl4'

225682

Institutional Source

Beutler Lab

Gene Symbol

Dpysl4

Ensembl Gene

ENSMUSG00000025478

Gene Name

dihydropyrimidinase-like 4

Synonyms

Drp-4, Ulip4, Crmp3, CRMP-3, unc-33-like phosphoprotein 4, DPY4

MMRRC Submission

040005-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R1995 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139086001-139102704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139096770 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 379 (I379V)

Ref Sequence

ENSEMBL: ENSMUSP00000112896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026551] [ENSMUST00000121184] [ENSMUST00000145499]

Predicted Effect

probably benign
Transcript: ENSMUST00000026551
AA Change: I358V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478
AA Change: I358V

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	64	453	4.5e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121184
AA Change: I379V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112896
Gene: ENSMUSG00000025478
AA Change: I379V

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	85	474	1.1e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139364

Predicted Effect

probably benign
Transcript: ENSMUST00000145499

SMART Domains

Protein: ENSMUSP00000117764
Gene: ENSMUSG00000025478

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	1	148	2.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154273

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice exhibit abnormal neurite outgrowth and lamination in the hippocampus, altered dendrite arborization and spine morphology in hippocampal pyramidal cells, and impaired LTP induction in the CA1 region. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	G	13: 59,531,058	K145N	probably damaging	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Btbd9	A	G	17: 30,274,930	Y496H	possibly damaging	Het
Catsperb	T	A	12: 101,602,767	N899K	possibly damaging	Het
Ccdc129	T	C	6: 55,968,709	I805T	probably benign	Het
Cenpl	T	C	1: 161,078,424	S123P	probably damaging	Het
Cep120	G	A	18: 53,740,136	T41I	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cnbd1	G	A	4: 19,055,112	P105S	possibly damaging	Het
Col6a1	T	C	10: 76,721,956	N149D	probably damaging	Het
Ctnna3	T	A	10: 63,820,364	V241D	probably damaging	Het
Dcbld2	A	C	16: 58,456,332	E495D	probably benign	Het
Dmp1	T	G	5: 104,209,913	S40A	possibly damaging	Het
Eral1	C	T	11: 78,074,489	G367S	probably benign	Het
Fah	C	T	7: 84,602,181	R31Q	probably damaging	Het
Fbn1	T	A	2: 125,350,373		probably null	Het
Fbxo40	T	C	16: 36,969,869	D293G	probably damaging	Het
Gemin6	A	C	17: 80,227,985	T125P	probably damaging	Het
Gpbar1	G	A	1: 74,279,444	G282D	possibly damaging	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Gucy1b1	A	G	3: 82,034,853	I533T	probably damaging	Het
H2-M9	A	T	17: 36,641,786	Y123N	probably damaging	Het
Hipk2	C	A	6: 38,715,974	D868Y	probably damaging	Het
Jarid2	T	C	13: 44,874,441	L123P	probably damaging	Het
Kcnb2	C	A	1: 15,709,766	N287K	possibly damaging	Het
Kdm8	G	A	7: 125,452,339	G35S	probably benign	Het
Kirrel	G	T	3: 87,095,786	A100D	possibly damaging	Het
Ltbp2	T	G	12: 84,808,446		probably null	Het
Mfsd12	C	A	10: 81,357,681	H28Q	probably damaging	Het
Neb	C	T	2: 52,298,732	V837M	probably damaging	Het
Nkain2	A	G	10: 32,402,351	I26T	possibly damaging	Het
Nuggc	A	G	14: 65,611,174	R175G	probably benign	Het
Olfr1122	T	G	2: 87,387,831	I42R	probably damaging	Het
Olfr1161	T	A	2: 88,025,672	S317T	probably benign	Het
Olfr205	A	G	16: 59,329,291	S73P	probably damaging	Het
Olfr965	T	C	9: 39,719,413	F62S	probably damaging	Het
Pcnt	G	A	10: 76,392,799	Q1511*	probably null	Het
Piezo2	G	T	18: 63,078,781	T1311K	probably damaging	Het
Pik3c2a	T	C	7: 116,354,006	Y1218C	probably damaging	Het
Pik3r4	T	A	9: 105,669,165	S905T	probably benign	Het
Pikfyve	T	A	1: 65,246,708	D1035E	probably damaging	Het
Pkn3	G	C	2: 30,089,977	G744A	probably damaging	Het
Pms1	A	G	1: 53,195,015	S781P	probably benign	Het
Pogz	C	T	3: 94,877,944	R793W	probably damaging	Het
Prrc2a	A	T	17: 35,157,429	V795D	probably damaging	Het
Rock1	G	A	18: 10,101,026	R630*	probably null	Het
Scd4	T	A	19: 44,334,178	I70N	possibly damaging	Het
Serpine2	A	G	1: 79,821,442	S32P	probably damaging	Het
Slc9c1	A	C	16: 45,554,255	T328P	probably damaging	Het
Spata31d1b	G	C	13: 59,716,380	L447F	probably benign	Het
Speer2	A	G	16: 69,858,077	S167P	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Tbcel	C	A	9: 42,451,661	G29W	probably damaging	Het
Tmcc3	T	C	10: 94,578,606	S57P	possibly damaging	Het
Tmem240	T	A	4: 155,739,847	D125E	possibly damaging	Het
Ttll7	G	A	3: 146,961,755	C792Y	possibly damaging	Het
Vmn1r177	T	A	7: 23,865,687	I255F	probably damaging	Het
Zp2	T	A	7: 120,135,165	I554F	probably damaging	Het

Other mutations in Dpysl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Dpysl4	APN	7	139096176	missense	probably damaging	1.00
IGL01836:Dpysl4	APN	7	139096173	missense	possibly damaging	0.96
IGL02447:Dpysl4	APN	7	139098600	missense	probably damaging	1.00
IGL02515:Dpysl4	APN	7	139096735	missense	probably damaging	1.00
IGL03169:Dpysl4	APN	7	139099910	splice site	probably null
PIT4382001:Dpysl4	UTSW	7	139089578	nonsense	probably null
R0012:Dpysl4	UTSW	7	139097883	missense	probably benign	0.32
R0012:Dpysl4	UTSW	7	139097883	missense	probably benign	0.32
R1624:Dpysl4	UTSW	7	139089553	missense	probably damaging	1.00
R1642:Dpysl4	UTSW	7	139090338	missense	probably damaging	1.00
R1860:Dpysl4	UTSW	7	139090299	missense	probably benign
R1885:Dpysl4	UTSW	7	139096807	missense	probably damaging	1.00
R2698:Dpysl4	UTSW	7	139096765	missense	probably damaging	1.00
R3032:Dpysl4	UTSW	7	139096236	missense	probably benign	0.01
R3762:Dpysl4	UTSW	7	139096756	missense	probably damaging	1.00
R3851:Dpysl4	UTSW	7	139100935	missense	probably damaging	1.00
R3852:Dpysl4	UTSW	7	139100935	missense	probably damaging	1.00
R4609:Dpysl4	UTSW	7	139098621	missense	probably damaging	0.99
R4972:Dpysl4	UTSW	7	139090290	missense	probably damaging	1.00
R5538:Dpysl4	UTSW	7	139091990	missense	probably benign
R5608:Dpysl4	UTSW	7	139098543	missense	probably damaging	0.97
R5762:Dpysl4	UTSW	7	139091937	missense	probably benign
R5887:Dpysl4	UTSW	7	139096276	missense	possibly damaging	0.72
R6022:Dpysl4	UTSW	7	139086084	unclassified	probably benign
R6060:Dpysl4	UTSW	7	139089408	start codon destroyed	probably null
R6180:Dpysl4	UTSW	7	139090334	missense	probably damaging	1.00
R6328:Dpysl4	UTSW	7	139099818	missense	probably benign
R6809:Dpysl4	UTSW	7	139093660	missense	probably benign	0.19
R6949:Dpysl4	UTSW	7	139091999	missense	probably damaging	1.00
R7647:Dpysl4	UTSW	7	139099773	missense	possibly damaging	0.92
R7695:Dpysl4	UTSW	7	139086123	start codon destroyed	probably null	0.00
R7751:Dpysl4	UTSW	7	139089540	missense	probably benign
R8129:Dpysl4	UTSW	7	139086160	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGTTCCATAGCCTTGGCTTG -3'
(R):5'- ACTAGGTGTCACTGCTAGGTG -3'

Sequencing Primer
(F):5'- TGCCTAGGAAGCTGGAGC -3'
(R):5'- TGCCGTCACTGCTAAGCTAAG -3'

Posted On

2014-08-25