Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02475:Ngef'

294895

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ngef

Ensembl Gene

ENSMUSG00000026259

Gene Name

neuronal guanine nucleotide exchange factor

Synonyms

Tims2, ephexin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

87476834-87573870 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87479150 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 632 (T632K)

Ref Sequence

ENSEMBL: ENSMUSP00000066894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027476] [ENSMUST00000027477] [ENSMUST00000068681]

Predicted Effect

probably benign
Transcript: ENSMUST00000027476

SMART Domains

Protein: ENSMUSP00000027476
Gene: ENSMUSG00000026258

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DUF4690	26	121	7.6e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000027477
AA Change: T542K

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259
AA Change: T542K

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
low complexity region	15	28	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC
RhoGEF	187	366	8.16e-46	SMART
PH	400	513	1.2e-7	SMART
SH3	525	582	8.43e-15	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068681
AA Change: T632K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: T632K

Domain	Start	End	E-Value	Type
low complexity region	213	226	N/A	INTRINSIC
RhoGEF	277	456	8.16e-46	SMART
PH	490	603	1.2e-7	SMART
SH3	615	672	8.43e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166463

Predicted Effect

unknown
Transcript: ENSMUST00000168235
AA Change: T215K

SMART Domains

Protein: ENSMUSP00000127674
Gene: ENSMUSG00000026259
AA Change: T215K

Domain	Start	End	E-Value	Type
Blast:RhoGEF	2	40	1e-16	BLAST
PH	74	187	1.2e-7	SMART
Blast:SH3	199	232	1e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191095

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and show no overt axonal phenotype; however, cultured retinal ganglion cells display defects in axonal outgrowth and ephrin-induced growth cone collapse. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,533		probably benign	Het
5730409E04Rik	A	G	4: 126,611,949	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849	I27N	probably damaging	Het
Akap6	A	T	12: 53,139,494	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,996,893	V31A	possibly damaging	Het
Cep350	G	A	1: 155,862,595	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,257,991		probably null	Het
Crcp	T	C	5: 130,059,858		probably benign	Het
Creb5	G	A	6: 53,693,924	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,150	D38G	probably benign	Het
Fam171a1	A	G	2: 3,223,490	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,857,735	V396A	possibly damaging	Het
Gm10340	G	A	14: 3,140,482		probably benign	Het
Gm20390	A	G	11: 93,955,574	V16A	probably damaging	Het
Grik3	A	G	4: 125,650,517	T344A	probably benign	Het
Itga7	T	C	10: 128,934,089	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936		probably benign	Het
Neb	G	T	2: 52,292,819	N1038K	probably damaging	Het
Nf1	T	C	11: 79,535,667	Y1636H	probably damaging	Het
Nts	A	G	10: 102,490,247		probably benign	Het
Olfml2b	A	G	1: 170,682,174	D697G	probably damaging	Het
Olfr1031	T	C	2: 85,992,032	F72L	probably benign	Het
Olfr1502	T	A	19: 13,862,299	C169S	probably damaging	Het
Olfr205	A	T	16: 59,328,725	H261Q	probably benign	Het
Otof	T	C	5: 30,376,682	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Rnaseh2b	T	A	14: 62,346,615	F37I	probably damaging	Het
Rtn4	T	A	11: 29,733,801	I1031N	probably damaging	Het
Rxfp2	A	G	5: 150,063,686	E344G	probably benign	Het
Scel	A	G	14: 103,537,008	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,482,996	E39G	probably benign	Het
Slc6a12	T	A	6: 121,354,375		probably null	Het
Snapc3	C	A	4: 83,450,096	H277N	probably benign	Het
Susd2	A	G	10: 75,637,499		probably null	Het
Tagap1	T	C	17: 6,956,427	Q290R	probably benign	Het
Tenm3	A	T	8: 48,279,198		probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,377	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,050,502	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,499,874	V17M	probably benign	Het
Trip11	T	A	12: 101,895,683	T208S	probably benign	Het
Ttc17	C	A	2: 94,364,376	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,587,101	W222R	probably damaging	Het
Xkr8	A	T	4: 132,728,201	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,473,025	G354C	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het

Other mutations in Ngef

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02221:Ngef	APN	1	87540696	missense	probably benign	0.06
IGL02478:Ngef	APN	1	87480579	splice site	probably benign
IGL03002:Ngef	APN	1	87509392	splice site	probably null
H8562:Ngef	UTSW	1	87487807	missense	possibly damaging	0.84
R0078:Ngef	UTSW	1	87540665	missense	probably benign	0.12
R0145:Ngef	UTSW	1	87540648	intron	probably benign
R0193:Ngef	UTSW	1	87509334	missense	probably benign	0.03
R0244:Ngef	UTSW	1	87487962	unclassified	probably benign
R0486:Ngef	UTSW	1	87479126	missense	probably damaging	1.00
R0865:Ngef	UTSW	1	87484601	missense	probably benign
R1824:Ngef	UTSW	1	87503264	critical splice donor site	probably null
R1994:Ngef	UTSW	1	87487904	missense	probably damaging	1.00
R2020:Ngef	UTSW	1	87545968	missense	probably benign	0.43
R4059:Ngef	UTSW	1	87486231	missense	probably damaging	0.99
R4770:Ngef	UTSW	1	87477561	missense	probably damaging	1.00
R4959:Ngef	UTSW	1	87503348	missense	possibly damaging	0.68
R5197:Ngef	UTSW	1	87509368	nonsense	probably null
R5286:Ngef	UTSW	1	87545830	missense	probably benign
R5293:Ngef	UTSW	1	87503429	small deletion	probably benign
R6065:Ngef	UTSW	1	87477648	missense	probably damaging	1.00
R6192:Ngef	UTSW	1	87487900	missense	probably damaging	0.98
R6925:Ngef	UTSW	1	87503263	splice site	probably null
R7176:Ngef	UTSW	1	87480695	missense	possibly damaging	0.94
R7437:Ngef	UTSW	1	87480605	missense	probably damaging	0.98
R7760:Ngef	UTSW	1	87540773	missense	probably benign	0.00
R8058:Ngef	UTSW	1	87546022	nonsense	probably null
R8142:Ngef	UTSW	1	87540741	missense	probably benign
R8154:Ngef	UTSW	1	87540760	missense	probably benign
Z1177:Ngef	UTSW	1	87482709	missense	possibly damaging	0.80

Posted On

2015-04-16