Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01836:Dpysl4'

154955

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpysl4

Ensembl Gene

ENSMUSG00000025478

Gene Name

dihydropyrimidinase-like 4

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL01836

Quality Score

Status

Chromosome

Chromosomal Location

139086001-139102704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139096173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 294 (V294I)

Ref Sequence

ENSEMBL: ENSMUSP00000112896 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026551
AA Change: V273I

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478
AA Change: V273I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121184
AA Change: V294I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112896
Gene: ENSMUSG00000025478
AA Change: V294I

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh6a	A	G	3: 138,313,336		probably benign	Het
Atp1a1	C	T	3: 101,591,414	G188R	probably damaging	Het
Cadps	A	G	14: 12,522,311	Y618H	probably damaging	Het
Dot1l	T	C	10: 80,785,866	S451P	probably benign	Het
Ehmt1	T	A	2: 24,863,220		probably null	Het
Eps8	C	T	6: 137,483,541		probably null	Het
Gm7247	T	A	14: 51,365,396	I63K	probably damaging	Het
Gsdme	T	A	6: 50,222,789	D270V	probably damaging	Het
Kel	T	A	6: 41,697,438	T353S	possibly damaging	Het
Krt73	T	C	15: 101,795,896	H403R	probably benign	Het
Mrnip	A	G	11: 50,199,848	T280A	probably benign	Het
Olfr342	C	T	2: 36,527,825	Q138*	probably null	Het
Pkdrej	A	G	15: 85,820,958	L259P	probably damaging	Het
Plod2	T	C	9: 92,606,498		probably benign	Het
Rad54l2	A	G	9: 106,716,157	S415P	probably benign	Het
Rag1	A	T	2: 101,641,894	F968I	probably damaging	Het
Rreb1	T	C	13: 37,931,457	S931P	probably damaging	Het
Sec23a	T	C	12: 58,971,287	I618V	probably damaging	Het
Smtnl1	A	T	2: 84,815,370	F386I	probably damaging	Het
Sppl2b	C	T	10: 80,861,386	T30I	probably benign	Het
Srf	T	C	17: 46,549,182		probably benign	Het
Tbc1d22b	A	G	17: 29,599,958	T429A	probably damaging	Het
Tcf20	A	T	15: 82,855,155	D698E	probably damaging	Het
Tmem106c	C	A	15: 97,969,686	S250R	probably benign	Het
Tmprss3	A	G	17: 31,191,044	S199P	probably benign	Het
Ush2a	C	T	1: 188,759,863		probably benign	Het
Zfp595	A	G	13: 67,332,461		probably benign	Het

Other mutations in Dpysl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Dpysl4	APN	7	139096176	missense	probably damaging	1.00
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
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
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

Posted On

2014-02-04