Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02024:Ntn5'

184109

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ntn5

Ensembl Gene

ENSMUSG00000070564

Gene Name

netrin 5

Synonyms

LOC243967

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02024

Quality Score

Status

Chromosome

Chromosomal Location

45333519-45343980 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 45340830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040636] [ENSMUST00000107742] [ENSMUST00000182750] [ENSMUST00000183120]

AlphaFold

Q3UQ22

Predicted Effect

probably benign
Transcript: ENSMUST00000040636

SMART Domains

Protein: ENSMUSP00000045229
Gene: ENSMUSG00000040364

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_11	55	362	1.6e-146	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107742

SMART Domains

Protein: ENSMUSP00000103371
Gene: ENSMUSG00000070564

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
low complexity region	115	130	N/A	INTRINSIC
EGF_Lam	173	225	4.1e-2	SMART
EGF_Lam	228	275	1.75e-10	SMART
low complexity region	281	289	N/A	INTRINSIC
C345C	313	432	4.71e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182750

SMART Domains

Protein: ENSMUSP00000138412
Gene: ENSMUSG00000070564

Domain	Start	End	E-Value	Type
EGF_Lam	41	93	4.1e-2	SMART
EGF_Lam	96	156	3.59e-7	SMART
EGF_Lam	159	206	1.75e-10	SMART
low complexity region	212	220	N/A	INTRINSIC
C345C	244	363	4.71e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183120

SMART Domains

Protein: ENSMUSP00000138144
Gene: ENSMUSG00000070564

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
low complexity region	115	130	N/A	INTRINSIC
EGF_Lam	173	225	4.1e-2	SMART
EGF_Lam	228	275	1.75e-10	SMART
low complexity region	281	289	N/A	INTRINSIC
low complexity region	346	357	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit ectopic motor neurons that migrate out of the ventral horn and into the motor roots. [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
Aass	G	A	6: 23,113,705 (GRCm39)	H246Y	probably damaging	Het
Abat	G	A	16: 8,429,000 (GRCm39)	A322T	probably damaging	Het
Bcat1	A	G	6: 144,978,564 (GRCm39)	V152A	probably damaging	Het
Btaf1	A	G	19: 36,969,826 (GRCm39)		probably benign	Het
Elavl2	T	C	4: 91,141,776 (GRCm39)	T291A	probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Fcgbp	G	A	7: 27,805,799 (GRCm39)	C2026Y	probably damaging	Het
Fcgrt	T	A	7: 44,744,682 (GRCm39)	H258L	probably damaging	Het
Galnt6	C	T	15: 100,601,374 (GRCm39)	D302N	probably benign	Het
Gldc	T	A	19: 30,078,227 (GRCm39)	R923S	probably damaging	Het
Hspg2	G	T	4: 137,267,384 (GRCm39)	A2033S	probably damaging	Het
Htr2c	T	A	X: 145,858,921 (GRCm39)	M77K	probably damaging	Het
Ifi208	A	G	1: 173,510,856 (GRCm39)	Y337C	probably damaging	Het
Ints11	G	T	4: 155,972,972 (GRCm39)	W554L	probably damaging	Het
Itgbl1	T	A	14: 124,094,904 (GRCm39)	C186S	probably damaging	Het
Lipf	A	G	19: 33,953,995 (GRCm39)	Y362C	probably damaging	Het
Map2k7	T	A	8: 4,297,663 (GRCm39)	S421R	possibly damaging	Het
Mroh9	T	G	1: 162,890,071 (GRCm39)	N222T	possibly damaging	Het
Msl3	C	A	X: 167,453,247 (GRCm39)	R89L	probably benign	Het
Nrip1	T	A	16: 76,088,563 (GRCm39)	D998V	probably benign	Het
Nrk	T	A	X: 137,896,678 (GRCm39)	I1265N	probably damaging	Het
Or11g27	A	G	14: 50,771,307 (GRCm39)	N146S	probably benign	Het
Or5w20	A	T	2: 87,727,243 (GRCm39)	R233S	possibly damaging	Het
Or6s1	T	G	14: 51,308,766 (GRCm39)	E28A	probably benign	Het
Plch2	T	C	4: 155,127,595 (GRCm39)		probably benign	Het
Porcn	C	T	X: 8,067,901 (GRCm39)	V233I	probably benign	Het
Ppp2r2a	T	C	14: 67,276,361 (GRCm39)	K48R	probably benign	Het
Ppp4r3c1	G	A	X: 88,975,129 (GRCm39)	T356I	probably benign	Het
Rccd1	A	T	7: 79,968,755 (GRCm39)	D268E	probably benign	Het
Sacs	C	A	14: 61,427,127 (GRCm39)	S178R	probably damaging	Het
Samd12	T	A	15: 53,521,862 (GRCm39)	D116V	probably damaging	Het
Slc12a8	A	G	16: 33,428,568 (GRCm39)	E46G	probably damaging	Het
Slc30a10	A	T	1: 185,187,438 (GRCm39)	I60F	possibly damaging	Het
Slc6a8	C	T	X: 72,722,583 (GRCm39)		probably benign	Het
Sos2	A	G	12: 69,664,822 (GRCm39)		probably benign	Het
Tbc1d31	T	C	15: 57,783,338 (GRCm39)	V79A	probably benign	Het
Tmem184c	A	T	8: 78,331,443 (GRCm39)	V102E	probably benign	Het
Ttc19	G	T	11: 62,203,939 (GRCm39)	R300I	probably damaging	Het
Unc5d	T	A	8: 29,142,855 (GRCm39)	I866F	probably benign	Het
Vmn1r7	A	T	6: 57,001,874 (GRCm39)	C129S	probably benign	Het
Vps41	T	A	13: 18,975,827 (GRCm39)		probably benign	Het
Vwa8	C	T	14: 79,331,724 (GRCm39)	A1275V	possibly damaging	Het

Other mutations in Ntn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Ntn5	APN	7	45,343,671 (GRCm39)	missense	probably damaging	1.00
IGL02029:Ntn5	APN	7	45,336,015 (GRCm39)	missense	probably benign	0.00
IGL02302:Ntn5	APN	7	45,343,672 (GRCm39)	missense	probably damaging	1.00
IGL02676:Ntn5	APN	7	45,341,300 (GRCm39)	splice site	probably benign
IGL02891:Ntn5	APN	7	45,335,648 (GRCm39)	missense	probably damaging	0.99
PIT4418001:Ntn5	UTSW	7	45,335,925 (GRCm39)	missense	probably damaging	0.97
R0179:Ntn5	UTSW	7	45,335,737 (GRCm39)	missense	probably damaging	0.99
R0594:Ntn5	UTSW	7	45,336,105 (GRCm39)	missense	probably damaging	0.99
R0755:Ntn5	UTSW	7	45,335,952 (GRCm39)	missense	probably benign	0.26
R1200:Ntn5	UTSW	7	45,341,806 (GRCm39)	missense	possibly damaging	0.94
R4779:Ntn5	UTSW	7	45,340,895 (GRCm39)	missense	probably damaging	1.00
R5974:Ntn5	UTSW	7	45,340,848 (GRCm39)	missense	probably damaging	1.00
R5978:Ntn5	UTSW	7	45,343,437 (GRCm39)	missense	possibly damaging	0.91
R6189:Ntn5	UTSW	7	45,342,644 (GRCm39)	missense	probably benign
R6738:Ntn5	UTSW	7	45,343,780 (GRCm39)	start gained	probably null
R7169:Ntn5	UTSW	7	45,336,198 (GRCm39)	nonsense	probably null
R8805:Ntn5	UTSW	7	45,333,899 (GRCm39)	missense	probably benign
RF009:Ntn5	UTSW	7	45,342,684 (GRCm39)	splice site	probably null
Z1088:Ntn5	UTSW	7	45,343,627 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07