Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02500:Ntng1'

296003

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ntng1

Ensembl Gene

ENSMUSG00000059857

Gene Name

netrin G1

Synonyms

Lmnt1, A930010C08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

109780040-110144011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110135330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 60 (Y60F)

Ref Sequence

ENSEMBL: ENSMUSP00000102185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072596] [ENSMUST00000106570] [ENSMUST00000106571] [ENSMUST00000106575] [ENSMUST00000128219] [ENSMUST00000131027] [ENSMUST00000133268] [ENSMUST00000138344] [ENSMUST00000138953] [ENSMUST00000156177]

AlphaFold

Q8R4G0

Predicted Effect

probably benign
Transcript: ENSMUST00000072596
AA Change: Y60F

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000072397
Gene: ENSMUSG00000059857
AA Change: Y60F

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF_Lam	364	417	4.81e-8	SMART
EGF_Lam	420	462	5.74e-6	SMART
EGF	466	498	5.12e-3	SMART
low complexity region	522	537	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106570
AA Change: Y60F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102180
Gene: ENSMUSG00000059857
AA Change: Y60F

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	355	1.28e-3	SMART
EGF	388	420	5.12e-3	SMART
low complexity region	444	459	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106571
AA Change: Y60F

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102181
Gene: ENSMUSG00000059857
AA Change: Y60F

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF	408	440	5.12e-3	SMART
low complexity region	464	479	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106575
AA Change: Y60F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102185
Gene: ENSMUSG00000059857
AA Change: Y60F

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	355	3.33e-2	SMART
EGF_Lam	364	417	4.81e-8	SMART
EGF_Lam	420	462	5.74e-6	SMART
EGF	466	498	5.12e-3	SMART
low complexity region	522	537	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128219
AA Change: Y60F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116579
Gene: ENSMUSG00000059857
AA Change: Y60F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LamNT	59	295	1.5e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131027
AA Change: Y60F

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118800
Gene: ENSMUSG00000059857
AA Change: Y60F

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF_Lam	364	417	4.81e-8	SMART
EGF	421	453	5.12e-3	SMART
low complexity region	477	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133268
AA Change: Y60F

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117371
Gene: ENSMUSG00000059857
AA Change: Y60F

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF	365	397	5.12e-3	SMART
low complexity region	421	436	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138344
AA Change: Y60F

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120688
Gene: ENSMUSG00000059857
AA Change: Y60F

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF_Lam	364	406	5.74e-6	SMART
EGF	410	442	5.12e-3	SMART
low complexity region	466	481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138953
AA Change: Y60F

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116213
Gene: ENSMUSG00000059857
AA Change: Y60F

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF	407	439	5.12e-3	SMART
low complexity region	463	478	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156177
AA Change: Y60F

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119534
Gene: ENSMUSG00000059857
AA Change: Y60F

Domain	Start	End	E-Value	Type
LamNT	59	295	3.22e-18	SMART
EGF_Lam	297	354	6.86e-4	SMART
EGF	387	419	5.12e-3	SMART
low complexity region	443	458	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189335

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele survive into adulthood with no major alterations in gross brain cytoarchitecture or axonal projection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,618,926	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,337,389	L674*	probably null	Het
Arhgef10	G	A	8: 14,961,238	E265K	probably damaging	Het
Cd53	A	G	3: 106,768,826	I75T	probably damaging	Het
Col26a1	A	T	5: 136,754,339	L235*	probably null	Het
Crem	G	T	18: 3,273,477	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,470,650	D344G	probably damaging	Het
Cyr61	T	C	3: 145,648,700	K152R	probably damaging	Het
Dchs1	T	C	7: 105,755,806	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,988,088	Q215R	possibly damaging	Het
Espl1	A	G	15: 102,315,800	H1262R	probably benign	Het
Exoc2	G	T	13: 30,911,196	T239K	probably damaging	Het
Fzd6	A	T	15: 39,031,386	S316C	probably damaging	Het
Htra1	A	G	7: 130,984,974	K429R	probably benign	Het
Il1rapl2	C	T	X: 138,846,503	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,661,112		probably benign	Het
Kiz	G	A	2: 146,863,813	V98I	probably benign	Het
Klk1b24	A	T	7: 44,188,324		probably benign	Het
Lrrc30	T	A	17: 67,631,862	N241I	probably damaging	Het
Map2k4	A	G	11: 65,696,310	V288A	probably damaging	Het
Mefv	T	C	16: 3,713,577	H459R	probably damaging	Het
Mettl21a	G	T	1: 64,608,054	Q115K	probably benign	Het
Msra	A	G	14: 64,285,188		probably benign	Het
Myh8	G	A	11: 67,305,710	R1752H	probably benign	Het
Nrp1	T	C	8: 128,425,799	F163S	possibly damaging	Het
Pax6	G	T	2: 105,692,770	R317L	probably benign	Het
Pcdh17	A	G	14: 84,533,469	E1129G	probably benign	Het
Phlpp2	C	T	8: 109,913,618	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prkce	A	G	17: 86,168,914	N108D	probably benign	Het
Prkdc	T	G	16: 15,714,282		probably null	Het
Ptprm	T	C	17: 66,920,048	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 180,279,329	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,872,960	L33F	probably benign	Het
Slc16a7	T	A	10: 125,230,933	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,388,713	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sspo	C	A	6: 48,478,379	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,667,323		probably null	Het
Txnrd1	T	G	10: 82,879,217	W98G	probably damaging	Het
Ulk1	A	T	5: 110,809,134	I66N	probably damaging	Het
Ush2a	A	G	1: 188,822,696	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,428,226	H172L	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	A	7: 81,041,726	C1218S	probably benign	Het

Other mutations in Ntng1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Ntng1	APN	3	109934995	nonsense	probably null
IGL02367:Ntng1	APN	3	110135513	splice site	probably null
IGL02448:Ntng1	APN	3	109934559	splice site	probably benign
IGL02487:Ntng1	APN	3	109935047	missense	probably damaging	0.98
IGL02578:Ntng1	APN	3	110135394	missense	probably benign	0.01
IGL03009:Ntng1	APN	3	109934702	missense	possibly damaging	0.89
IGL03096:Ntng1	APN	3	110135349	missense	probably benign	0.19
R0108:Ntng1	UTSW	3	109851755	splice site	probably benign
R0326:Ntng1	UTSW	3	110135503	nonsense	probably null
R0403:Ntng1	UTSW	3	109934611	missense	probably damaging	0.97
R0699:Ntng1	UTSW	3	109872295	missense	probably damaging	1.00
R0702:Ntng1	UTSW	3	109872254	missense	probably damaging	1.00
R1981:Ntng1	UTSW	3	109935010	missense	possibly damaging	0.61
R2096:Ntng1	UTSW	3	109832555	missense	probably damaging	0.99
R3739:Ntng1	UTSW	3	109934691	missense	probably damaging	1.00
R3963:Ntng1	UTSW	3	109934868	missense	probably damaging	1.00
R4484:Ntng1	UTSW	3	110143808	unclassified	probably benign
R4516:Ntng1	UTSW	3	109935013	missense	probably damaging	1.00
R4518:Ntng1	UTSW	3	109935013	missense	probably damaging	1.00
R4520:Ntng1	UTSW	3	109934996	missense	probably damaging	1.00
R4523:Ntng1	UTSW	3	109934996	missense	probably damaging	1.00
R4524:Ntng1	UTSW	3	109934996	missense	probably damaging	1.00
R4776:Ntng1	UTSW	3	109934713	missense	probably damaging	1.00
R4817:Ntng1	UTSW	3	109934868	missense	probably damaging	1.00
R4827:Ntng1	UTSW	3	110135411	missense	probably damaging	1.00
R4990:Ntng1	UTSW	3	110135261	critical splice donor site	probably null
R5067:Ntng1	UTSW	3	110135345	missense	possibly damaging	0.95
R5087:Ntng1	UTSW	3	110135329	nonsense	probably null
R5196:Ntng1	UTSW	3	109934983	missense	probably damaging	1.00
R5263:Ntng1	UTSW	3	109934872	missense	probably damaging	0.99
R5743:Ntng1	UTSW	3	110135420	missense	probably damaging	1.00
R6268:Ntng1	UTSW	3	109935035	missense	probably damaging	1.00
R6292:Ntng1	UTSW	3	110143886	unclassified	probably benign
R6419:Ntng1	UTSW	3	109782853	missense	possibly damaging	0.95
R6898:Ntng1	UTSW	3	109872218	missense	probably damaging	0.98
R7081:Ntng1	UTSW	3	109851789	missense	probably benign	0.00
R7090:Ntng1	UTSW	3	109935180	nonsense	probably null
R7134:Ntng1	UTSW	3	109935129	missense	probably benign
R7302:Ntng1	UTSW	3	109832617	missense	possibly damaging	0.94
R7353:Ntng1	UTSW	3	110135447	missense	probably damaging	1.00
R7408:Ntng1	UTSW	3	109853082	missense	probably benign	0.00
R7610:Ntng1	UTSW	3	109934825	missense	probably damaging	1.00
R7686:Ntng1	UTSW	3	109935014	missense	possibly damaging	0.80
R7972:Ntng1	UTSW	3	110135486	missense	probably benign	0.02
R9210:Ntng1	UTSW	3	109872317	missense	probably damaging	1.00
R9214:Ntng1	UTSW	3	109934605	missense	probably damaging	1.00
R9266:Ntng1	UTSW	3	110143607	unclassified	probably benign
R9266:Ntng1	UTSW	3	110143846	missense	unknown
R9364:Ntng1	UTSW	3	110135364	missense	probably damaging	0.97
R9593:Ntng1	UTSW	3	109934908	missense	probably damaging	1.00
R9596:Ntng1	UTSW	3	110135640	start gained	probably benign

Posted On

2015-04-16