Mutagenetix > Incidental Mutation

Incidental Mutation 'R6022:Dpysl4'

478996

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

043256-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6022 (G1)

Quality Score

98.0078

Status

Not validated

Chromosome

Chromosomal Location

139086001-139102704 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 139086084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026551] [ENSMUST00000121184] [ENSMUST00000145499] [ENSMUST00000171843]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026551

SMART Domains

Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121184

SMART Domains

Protein: ENSMUSP00000112896
Gene: ENSMUSG00000025478

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171843

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,290,759	F874C	probably damaging	Het
Adam9	T	C	8: 25,003,305	T96A	possibly damaging	Het
Arhgef26	C	T	3: 62,428,939	T633M	probably damaging	Het
Atxn2l	A	G	7: 126,496,435		probably null	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Brix1	C	T	15: 10,476,589	R267H	probably benign	Het
Caskin1	T	A	17: 24,496,735	F158I	probably benign	Het
Ces1g	T	A	8: 93,328,457	N204I	probably damaging	Het
Chd1	A	G	17: 17,377,773	I41V	probably benign	Het
Crybg2	A	T	4: 134,074,273	K915*	probably null	Het
Dock4	T	C	12: 40,748,110	V911A	probably benign	Het
Dok5	A	G	2: 170,879,222	Y302C	probably damaging	Het
Dsc3	A	C	18: 19,966,338	V707G	probably damaging	Het
Endog	A	G	2: 30,172,909	Y187C	possibly damaging	Het
Fcrl5	A	G	3: 87,455,763	T526A	probably benign	Het
Gcat	T	C	15: 79,042,278	V116A	probably damaging	Het
Gm10471	T	G	5: 26,084,679	E250A	probably benign	Het
Herc1	A	G	9: 66,483,685	D3975G	probably damaging	Het
Jmy	G	T	13: 93,453,578		probably null	Het
Kif1b	T	C	4: 149,198,532	I1273V	probably benign	Het
Lrriq1	G	T	10: 103,215,534	N452K	possibly damaging	Het
Lrrn3	T	C	12: 41,453,430	E296G	probably damaging	Het
Marco	G	A	1: 120,488,565	L208F	probably benign	Het
Mme	T	A	3: 63,364,797	W606R	probably damaging	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Phc3	A	G	3: 30,930,025	S647P	probably damaging	Het
Prx	A	G	7: 27,517,573	K500E	probably damaging	Het
Ptpn22	T	A	3: 103,886,105	V524E	probably benign	Het
Ptprj	A	T	2: 90,471,323	I155K	probably benign	Het
Rad51ap2	A	G	12: 11,458,522	E815G	probably damaging	Het
Rnf150	T	C	8: 83,042,729	V381A	probably benign	Het
Rnf213	A	G	11: 119,486,010	K5103R	probably benign	Het
Tecpr1	A	T	5: 144,199,191	W961R	possibly damaging	Het
Tnn	A	T	1: 160,110,358	D932E	probably benign	Het
Tram2	G	A	1: 21,079,137		probably benign	Het
Trbv26	T	A	6: 41,227,575		probably benign	Het
Trmt11	A	G	10: 30,587,501	I206T	possibly damaging	Het
Ttk	T	C	9: 83,839,322	Y87H	probably damaging	Het
Uri1	A	T	7: 37,961,477		probably benign	Het
Vmn1r173	A	G	7: 23,702,835	D165G	probably benign	Het
Xpc	A	G	6: 91,499,636	S494P	probably damaging	Het
Zfp438	T	A	18: 5,213,419	N513I	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
R1995:Dpysl4	UTSW	7	139096770	missense	probably benign
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
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
R9538:Dpysl4	UTSW	7	139090314	missense	probably damaging	1.00
Z1189:Dpysl4	UTSW	7	139089408	start codon destroyed	probably null
Z1192:Dpysl4	UTSW	7	139089408	start codon destroyed	probably null

Predicted Primers

Posted On

2017-06-26