Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Ngef'

688087

Institutional Source

Beutler Lab

Gene Symbol

Ngef

Ensembl Gene

ENSMUSG00000026259

Gene Name

neuronal guanine nucleotide exchange factor

Synonyms

Tims2, ephexin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87476834-87573870 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87503288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 269 (P269L)

Ref Sequence

ENSEMBL: ENSMUSP00000066894 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027477
AA Change: P179L

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

SMART Domains

Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259
AA Change: P179L

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

probably damaging
Transcript: ENSMUST00000068681
AA Change: P269L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: P269L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (76/76)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,939,093	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,737,554	L146P		Het
Adra1a	T	A	14: 66,638,185	M203K	probably damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Akt3	G	T	1: 177,059,389	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,623,200		probably benign	Het
Aplf	T	C	6: 87,663,797	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,181,230	W618R	probably damaging	Het
Asxl3	C	A	18: 22,452,408	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,452,414	K132R	probably damaging	Het
Atp11a	T	C	8: 12,828,483	M353T	probably damaging	Het
Atp11b	A	G	3: 35,806,889	D375G	probably damaging	Het
BC052040	A	G	2: 115,777,023	T286A	probably benign	Het
Cage1	C	T	13: 38,017,362	A656T	possibly damaging	Het
Casz1	C	T	4: 148,939,040	P801S	probably damaging	Het
Ccdc130	C	T	8: 84,263,898	R35Q	probably damaging	Het
Ccdc144b	A	G	3: 36,032,884	I187T	probably benign	Het
Cdc14b	A	T	13: 64,220,944		probably benign	Het
Cox6b2	A	G	7: 4,752,087	F63L	probably benign	Het
Cramp1l	A	C	17: 24,979,629	V773G	possibly damaging	Het
Cul7	A	G	17: 46,654,522	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,031,346	Y243H	possibly damaging	Het
Dnah9	C	A	11: 66,072,099	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 105,989,312	A298S		Het
Dvl3	G	A	16: 20,524,076		probably null	Het
Enpp3	T	C	10: 24,798,274	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,113,784	I289T	possibly damaging	Het
Gm3417	A	G	17: 14,967,680	Y111H	probably damaging	Het
Gm5565	T	C	5: 146,158,039	Y299C	probably damaging	Het
Gm8765	C	T	13: 50,702,092	R589*	probably null	Het
Gpat3	A	T	5: 100,846,922	M39L	probably benign	Het
Gpr153	T	C	4: 152,280,207	L240P	probably damaging	Het
Gpr182	T	C	10: 127,750,648	I145V	probably benign	Het
H2-Q4	A	T	17: 35,379,993	T80S	possibly damaging	Het
Hnf1a	T	A	5: 114,950,823	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,986,341	C79Y	probably damaging	Het
Lama2	A	G	10: 27,006,701	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,500,549	Q1350L	probably damaging	Het
Map2k2	G	A	10: 81,119,664	V294I	probably benign	Het
Mtus1	G	A	8: 41,083,723	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,750,828	D67G	possibly damaging	Het
Nlrp9b	A	G	7: 20,023,476	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,298,088	R649H	possibly damaging	Het
Olfr1165-ps	T	G	2: 88,101,072	D305A	unknown	Het
Olfr1200	C	A	2: 88,767,955	R120L	probably damaging	Het
Olfr304	A	G	7: 86,386,040	S207P	probably benign	Het
Pi4kb	T	A	3: 94,993,117	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,590,762	S944P	probably damaging	Het
Podn	C	T	4: 108,021,546	V375M	probably damaging	Het
Pramef8	C	A	4: 143,419,103	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,706,102	H110Q	probably benign	Het
Rasip1	A	G	7: 45,632,642	E523G	possibly damaging	Het
Ripor1	T	G	8: 105,616,151	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,300,279	V714L	probably damaging	Het
Sass6	G	T	3: 116,613,998	L254F	probably damaging	Het
Scarf2	G	A	16: 17,806,406	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,152,338		probably benign	Het
Sh3tc1	C	A	5: 35,706,483	A787S	probably benign	Het
Skint5	T	A	4: 113,655,722	N871I	unknown	Het
Slc48a1	T	G	15: 97,789,952	D62E	probably damaging	Het
Slc6a21	G	A	7: 45,286,974	M157I		Het
Slurp2	T	C	15: 74,743,112	D60G	probably benign	Het
Sparcl1	G	T	5: 104,093,113	N148K	possibly damaging	Het
Spsb2	T	A	6: 124,810,013	N236K	probably benign	Het
Sptb	G	T	12: 76,632,534		probably benign	Het
Ssc4d	A	T	5: 135,961,176	C41S	probably damaging	Het
Tecta	A	T	9: 42,375,079	D760E	probably benign	Het
Tesmin	G	T	19: 3,389,431		probably benign	Het
Tiam1	A	C	16: 89,804,888		probably benign	Het
Tldc1	T	C	8: 119,762,311	N411S	probably benign	Het
Tnrc6a	T	C	7: 123,179,723	L1219S	probably damaging	Het
Tram1	T	G	1: 13,569,606	I306L	probably benign	Het
Trank1	A	C	9: 111,362,432	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,201,252	H1044R		Het
Ubac2	T	C	14: 121,908,214	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,106,034	M194L	probably benign	Het
Zdhhc1	G	T	8: 105,478,901	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,498,816	V42I	probably damaging	Het
Zfp81	A	G	17: 33,334,413	C476R	probably damaging	Het

Other mutations in Ngef

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02221:Ngef	APN	1	87540696	missense	probably benign	0.06
IGL02475:Ngef	APN	1	87479150	missense	possibly damaging	0.79
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
R8697:Ngef	UTSW	1	87489737	missense	probably damaging	0.99
R8769:Ngef	UTSW	1	87481161	missense	probably damaging	1.00
R8784:Ngef	UTSW	1	87477571	missense	probably damaging	1.00
R8790:Ngef	UTSW	1	87477597	missense	probably benign	0.10
R8907:Ngef	UTSW	1	87477654	missense	probably damaging	1.00
R9050:Ngef	UTSW	1	87503288	missense	probably damaging	0.96
R9169:Ngef	UTSW	1	87545859	missense	probably benign	0.43
R9198:Ngef	UTSW	1	87479075	missense	unknown
R9434:Ngef	UTSW	1	87480593	missense	possibly damaging	0.89
R9466:Ngef	UTSW	1	87503288	missense	probably damaging	0.96
R9650:Ngef	UTSW	1	87487830	missense	possibly damaging	0.90
R9704:Ngef	UTSW	1	87503288	missense	probably damaging	0.96
R9705:Ngef	UTSW	1	87503288	missense	probably damaging	0.96
R9715:Ngef	UTSW	1	87503288	missense	probably damaging	0.96
R9721:Ngef	UTSW	1	87479135	missense	probably damaging	1.00
R9727:Ngef	UTSW	1	87503288	missense	probably damaging	0.96
R9750:Ngef	UTSW	1	87503288	missense	probably damaging	0.96
R9771:Ngef	UTSW	1	87503288	missense	probably damaging	0.96
Z1177:Ngef	UTSW	1	87482709	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GAATCAGCCCAGAAAGTGGC -3'
(R):5'- TCTCCAAGAAATTGAAACACGGAG -3'

Sequencing Primer
(F):5'- CAGAAAGTGGCTGGGTGGTC -3'
(R):5'- AACTCCGATGGGTCCCAG -3'

Posted On

2021-11-19