Mutagenetix > Incidental Mutation

Incidental Mutation 'R7695:Dpysl4'

593606

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

Accession Numbers

Essential gene?

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

Stock #

R7695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139086001-139102704 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 139086123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000026551 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000026551
AA Change: M1V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478
AA Change: M1V

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

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

probably benign
Transcript: ENSMUST00000171843

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	T	C	13: 98,984,258	T87A	probably damaging	Het
Adgrb1	T	C	15: 74,543,638	V689A	possibly damaging	Het
Casp12	A	G	9: 5,353,641	E225G	probably damaging	Het
Ccdc39	A	G	3: 33,814,519	L806P	probably damaging	Het
Ccnd3	T	A	17: 47,597,496	I164N	probably damaging	Het
Cd209b	A	G	8: 3,926,005	V52A	probably benign	Het
Celsr2	G	A	3: 108,402,753	R1554W	probably damaging	Het
Cnot1	A	T	8: 95,770,632	I239N	probably benign	Het
Csmd3	A	T	15: 47,820,381	V948D		Het
Dnmt1	C	A	9: 20,913,985	G1061V	probably null	Het
Elp5	T	C	11: 69,969,501	T227A	probably benign	Het
Exosc1	G	A	19: 41,928,080	H86Y	possibly damaging	Het
Foxn4	G	T	5: 114,256,587	D426E	probably damaging	Het
Gabbr2	A	G	4: 46,875,687	L145P	probably damaging	Het
Gkn3	A	G	6: 87,384,440	Y126H	probably damaging	Het
Gm16506	A	G	14: 43,725,006	F148S		Het
Gm3558	A	G	14: 7,551,798	I76T	probably benign	Het
Gm49359	A	G	13: 62,456,744	F45S	possibly damaging	Het
Gpc5	A	T	14: 115,092,594	H63L	unknown	Het
Hbs1l	A	T	10: 21,299,217	D28V	possibly damaging	Het
Ide	G	A	19: 37,329,036	H113Y		Het
Igkv3-3	A	T	6: 70,687,311	S46C	probably damaging	Het
Igsf10	A	T	3: 59,326,191	V1707D	probably damaging	Het
Kcna5	A	T	6: 126,534,211	V318E	probably damaging	Het
Kdm3b	T	C	18: 34,794,559	F158S	possibly damaging	Het
Lrrc14b	T	A	13: 74,363,178	D261V	possibly damaging	Het
Lrrc71	T	A	3: 87,739,462	I485F	probably damaging	Het
Map6	C	T	7: 99,336,292	L671F	possibly damaging	Het
Mast1	A	G	8: 84,920,928	V560A	probably damaging	Het
Mfap4	A	T	11: 61,485,719		probably null	Het
Myh9	A	G	15: 77,766,736	I1637T	probably benign	Het
Neo1	A	T	9: 58,902,929	F1080I	possibly damaging	Het
Olfr1269	A	G	2: 90,118,863	V245A	probably benign	Het
Olfr1298	A	G	2: 111,645,625	V124A	probably damaging	Het
Olfr23	T	A	11: 73,940,894	V216E	possibly damaging	Het
Olfr559	T	C	7: 102,723,659	H277R	probably benign	Het
Pax2	A	G	19: 44,833,199	Y318C	probably damaging	Het
Pcnx4	A	T	12: 72,541,576	M53L	probably benign	Het
Pkd2l2	T	A	18: 34,428,245	D435E	possibly damaging	Het
Plec	G	A	15: 76,183,855	Q1117*	probably null	Het
Ppp2r2c	T	C	5: 36,947,182	L302P	probably damaging	Het
Prex2	T	C	1: 11,162,273	F855L	probably benign	Het
Reg3d	A	T	6: 78,377,136	W103R	probably benign	Het
Rnf216	A	C	5: 143,085,904	H440Q	possibly damaging	Het
Scn2a	A	G	2: 65,711,907	T785A	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,831	Y844F	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Spp1	T	C	5: 104,435,143		probably benign	Het
Tacc2	T	A	7: 130,728,903	S196T	probably benign	Het
Thrap3	G	A	4: 126,180,098	S285L	probably damaging	Het
Ttn	T	A	2: 76,835,961	R11584*	probably null	Het
Ubap2	A	G	4: 41,211,740	S341P	probably damaging	Het
Upf3a	T	G	8: 13,798,279	S358R	probably benign	Het
Zdbf2	T	A	1: 63,307,370	I1636N	possibly damaging	Het
Zfp946	C	A	17: 22,455,021	T252N	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
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
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
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

PCR Primer
(F):5'- ATGCAAATGACGGTCGGTGG -3'
(R):5'- GCAATGTCCACTTGAACCCC -3'

Sequencing Primer
(F):5'- ACACTCGGACTTCCTAAG -3'
(R):5'- ACTGCGCAAAGGGTTCC -3'

Posted On

2019-11-12