Mutagenetix > Incidental Mutation

Incidental Mutation 'R6268:Ntng1'

507139

Institutional Source

Beutler Lab

Gene Symbol

Ntng1

Ensembl Gene

ENSMUSG00000059857

Gene Name

netrin G1

Synonyms

Lmnt1, A930010C08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109780040-110144011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109935035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 141 (T141A)

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

possibly damaging
Transcript: ENSMUST00000072596
AA Change: T141A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072397
Gene: ENSMUSG00000059857
AA Change: T141A

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: T141A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102180
Gene: ENSMUSG00000059857
AA Change: T141A

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: T141A

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102181
Gene: ENSMUSG00000059857
AA Change: T141A

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: T141A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102185
Gene: ENSMUSG00000059857
AA Change: T141A

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 benign
Transcript: ENSMUST00000128219
AA Change: T141A

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116579
Gene: ENSMUSG00000059857
AA Change: T141A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131027
AA Change: T141A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118800
Gene: ENSMUSG00000059857
AA Change: T141A

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

possibly damaging
Transcript: ENSMUST00000133268
AA Change: T141A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117371
Gene: ENSMUSG00000059857
AA Change: T141A

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

possibly damaging
Transcript: ENSMUST00000138344
AA Change: T141A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120688
Gene: ENSMUSG00000059857
AA Change: T141A

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

possibly damaging
Transcript: ENSMUST00000138953
AA Change: T141A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116213
Gene: ENSMUSG00000059857
AA Change: T141A

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

possibly damaging
Transcript: ENSMUST00000156177
AA Change: T141A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119534
Gene: ENSMUSG00000059857
AA Change: T141A

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

Meta Mutation Damage Score

0.2006

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,540,408	I78T	probably benign	Het
Afg3l1	A	T	8: 123,492,926	I398F	probably damaging	Het
Ahctf1	T	C	1: 179,763,483	H1244R	probably benign	Het
Ank1	A	T	8: 23,109,671	K797N	probably damaging	Het
Anxa6	G	T	11: 54,987,077		probably null	Het
Ap1b1	T	A	11: 5,019,493	V310E	probably damaging	Het
C2cd2l	T	C	9: 44,317,666	I123V	probably damaging	Het
Cars2	TCCCC	TCCC	8: 11,529,599		probably null	Het
Cfap54	T	A	10: 93,038,909	I542F	probably damaging	Het
Cfap57	G	T	4: 118,569,451	Y1100*	probably null	Het
Coq9	A	G	8: 94,850,234	E158G	probably benign	Het
Cox15	A	T	19: 43,739,926	W303R	possibly damaging	Het
Cpa5	A	G	6: 30,615,173	Y103C	probably damaging	Het
Crygn	A	T	5: 24,756,191	V39E	probably damaging	Het
Csf1	G	T	3: 107,747,157	S132R	possibly damaging	Het
Dapk1	G	A	13: 60,761,766	V1398M	possibly damaging	Het
Degs2	C	A	12: 108,692,580	V47L	probably damaging	Het
Dock5	C	A	14: 67,790,275	E1057*	probably null	Het
Doxl2	T	A	6: 48,977,682	Y585N	probably benign	Het
Dsg1b	C	A	18: 20,388,163	Q26K	probably benign	Het
Fam181a	T	C	12: 103,316,544	V236A	possibly damaging	Het
Fam78b	C	A	1: 167,078,553	P94T	probably damaging	Het
Fbxw25	T	G	9: 109,654,650	T165P	probably damaging	Het
Flg	C	A	3: 93,288,175		probably benign	Het
Frrs1	G	T	3: 116,903,099	V573F	probably damaging	Het
Gm7298	A	G	6: 121,779,073	T964A	possibly damaging	Het
Hoxd9	G	T	2: 74,698,089	V12L	probably damaging	Het
Ikbkap	T	C	4: 56,762,305	Y1098C	probably damaging	Het
Kcnt1	A	G	2: 25,903,597		probably null	Het
Klhl3	G	T	13: 58,013,842	R480S	probably damaging	Het
Klhl36	A	G	8: 119,870,667	D369G	probably damaging	Het
Lama3	T	A	18: 12,524,737	N303K	probably damaging	Het
Lhcgr	T	C	17: 88,742,704	T465A	probably damaging	Het
Llgl1	T	C	11: 60,712,163	V888A	probably benign	Het
Lrp1b	T	A	2: 40,821,717	T3164S	probably benign	Het
Mmp3	T	G	9: 7,447,622	D202E	possibly damaging	Het
Mocs1	C	A	17: 49,435,155	T104K	probably damaging	Het
Mrpl42	A	T	10: 95,496,707		probably null	Het
Mtch2	T	C	2: 90,863,648	C279R	probably benign	Het
Muc4	A	T	16: 32,768,767	D2836V	probably damaging	Het
Myh7	T	C	14: 54,989,284	E370G	probably benign	Het
Naa11	A	G	5: 97,392,210	Y30H	probably damaging	Het
Olfr1499	A	T	19: 13,815,307	Y94*	probably null	Het
Olfr196	A	C	16: 59,167,293		probably null	Het
Olfr251	T	C	9: 38,378,088	I69T	probably benign	Het
Pcdha12	G	A	18: 37,022,424	C732Y	possibly damaging	Het
Plekhm2	G	A	4: 141,632,341	Q392*	probably null	Het
Prr22	G	A	17: 56,771,587	V247M	probably damaging	Het
Rapgef6	T	A	11: 54,649,247	L716Q	probably damaging	Het
Rasgrp4	G	A	7: 29,143,068	V246I	probably damaging	Het
Rhbdd2	C	T	5: 135,643,260	T323I	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Homo
Scgb2b20	A	T	7: 33,364,548	I99K	possibly damaging	Het
Scyl3	C	T	1: 163,946,217	R324*	probably null	Het
Slc23a1	T	C	18: 35,619,571	Y551C	probably damaging	Het
Slc5a5	A	T	8: 70,888,620	S358R	probably damaging	Het
Sorcs3	T	A	19: 48,790,166	N1007K	probably damaging	Het
Stxbp4	T	A	11: 90,540,201	K428*	probably null	Het
Tmem63c	T	A	12: 87,081,953	I584N	probably damaging	Het
Traf3ip3	C	T	1: 193,198,036		probably benign	Het
Trgv2	G	A	13: 19,336,831	T31I	probably benign	Het
Ttll3	C	T	6: 113,392,563	R23C	probably benign	Het
Ugt2a3	A	C	5: 87,329,613	L309R	probably damaging	Het
Urb1	A	G	16: 90,753,919	M2015T	probably benign	Het
Vmn2r14	A	C	5: 109,221,417	S97A	possibly damaging	Het
Vps13c	C	A	9: 67,951,449	T2727K	probably benign	Het
Xrn1	T	A	9: 95,964,014	I40K	probably damaging	Het
Zc3h11a	A	G	1: 133,624,557	V604A	probably benign	Het
Zfp410	G	A	12: 84,331,838	R259H	probably benign	Het
Zfp748	A	G	13: 67,542,586	V185A	possibly damaging	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
IGL02500:Ntng1	APN	3	110135330	missense	probably damaging	1.00
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
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	110143846	missense	unknown
R9266:Ntng1	UTSW	3	110143607	unclassified	probably benign
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

Predicted Primers

PCR Primer
(F):5'- GACCGTGTGCTGAGATAAATCC -3'
(R):5'- TCAGCCAGTATTTAACGCACC -3'

Sequencing Primer
(F):5'- CGTGTGCTGAGATAAATCCTTCACG -3'
(R):5'- TCTTTGTCTTCCATAGGGCAAC -3'

Posted On

2018-03-15