Mutagenetix > Incidental Mutation

Incidental Mutation 'R6192:Ngef'

502611

Institutional Source

Beutler Lab

Gene Symbol

Ngef

Ensembl Gene

ENSMUSG00000026259

Gene Name

neuronal guanine nucleotide exchange factor

Synonyms

ephexin, Tims2

MMRRC Submission

044332-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87404556-87501592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87415622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 347 (D347E)

Ref Sequence

ENSEMBL: ENSMUSP00000066894 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027477
AA Change: D257E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259
AA Change: D257E

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: D347E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: D347E

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

probably benign
Transcript: ENSMUST00000168235

SMART Domains

Protein: ENSMUSP00000127674
Gene: ENSMUSG00000026259

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,774,002 (GRCm39)	E1137G	probably damaging	Het
Adcy9	T	C	16: 4,105,818 (GRCm39)	I1099V	probably benign	Het
Angptl4	A	T	17: 33,996,015 (GRCm39)	N320K	probably benign	Het
Atp6v0a2	G	A	5: 124,767,268 (GRCm39)	M10I	probably benign	Het
Bltp1	C	T	3: 37,042,318 (GRCm39)	T2768I	probably benign	Het
Cbfa2t3	A	G	8: 123,361,135 (GRCm39)	S395P	probably benign	Het
Cenpe	C	T	3: 134,954,291 (GRCm39)	T1716I	possibly damaging	Het
Chsy1	T	C	7: 65,820,625 (GRCm39)	Y287H	probably benign	Het
Col4a4	G	T	1: 82,462,151 (GRCm39)	P1075T	probably damaging	Het
Cryab	T	A	9: 50,665,813 (GRCm39)	M68K	probably damaging	Het
Cybrd1	T	A	2: 70,967,858 (GRCm39)	L143Q	probably null	Het
Dcaf7	T	C	11: 105,942,584 (GRCm39)	V177A	probably damaging	Het
Dclk2	T	C	3: 86,722,457 (GRCm39)	Y392C	probably damaging	Het
Ddx20	T	C	3: 105,586,036 (GRCm39)	T770A	probably benign	Het
Dennd1b	T	A	1: 139,095,456 (GRCm39)	D501E	probably benign	Het
Dgkh	A	T	14: 78,865,504 (GRCm39)	Y26*	probably null	Het
Dnajc2	A	G	5: 21,973,646 (GRCm39)	V196A	probably damaging	Het
Etl4	A	G	2: 20,806,362 (GRCm39)	K827E	probably damaging	Het
Fam8a1	C	T	13: 46,823,099 (GRCm39)	P13L	probably damaging	Het
Gfra3	T	C	18: 34,837,582 (GRCm39)	S139G	possibly damaging	Het
Ggnbp1	G	A	17: 27,248,847 (GRCm39)	V139I	possibly damaging	Het
Gja1	T	A	10: 56,264,330 (GRCm39)	Y230N	probably damaging	Het
Gldc	A	G	19: 30,111,172 (GRCm39)	S535P	probably damaging	Het
Gm45871	A	G	18: 90,610,357 (GRCm39)	T532A	probably benign	Het
Gm5431	T	A	11: 48,785,220 (GRCm39)	D107V	probably benign	Het
Herc2	C	T	7: 55,857,510 (GRCm39)	T4031M	probably damaging	Het
Iffo2	G	A	4: 139,333,769 (GRCm39)	A282T	probably damaging	Het
Ifi44	T	G	3: 151,451,276 (GRCm39)		probably null	Het
Igkv4-53	C	T	6: 69,625,915 (GRCm39)	R62H	possibly damaging	Het
Lrp11	A	C	10: 7,474,454 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,338,833 (GRCm39)	T1755A	probably benign	Het
Mcm3ap	A	T	10: 76,336,934 (GRCm39)	K1316M	probably damaging	Het
Mctp1	T	G	13: 76,971,082 (GRCm39)		probably null	Het
Mroh5	A	T	15: 73,662,630 (GRCm39)	I396N	probably damaging	Het
Mrps5	T	A	2: 127,443,305 (GRCm39)	H294Q	probably damaging	Het
Muc16	A	T	9: 18,569,985 (GRCm39)	S845T	unknown	Het
Mycbpap	A	T	11: 94,398,557 (GRCm39)	V474E	probably damaging	Het
Mzt2	G	C	16: 15,666,551 (GRCm39)	S122W	probably benign	Het
Neb	T	C	2: 52,146,802 (GRCm39)	I2821V	probably benign	Het
Nlrp14	T	C	7: 106,781,646 (GRCm39)	V281A	probably benign	Het
Obscn	A	T	11: 58,888,864 (GRCm39)	Y7597N	unknown	Het
Or4k47	T	C	2: 111,451,520 (GRCm39)	R300G	possibly damaging	Het
Patj	G	T	4: 98,344,394 (GRCm39)	G569W	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Phf2	T	A	13: 48,973,583 (GRCm39)	T361S	unknown	Het
Pik3r6	A	G	11: 68,434,455 (GRCm39)	E552G	probably damaging	Het
Pitx2	A	G	3: 129,009,521 (GRCm39)	T147A	probably benign	Het
Pkmyt1	G	A	17: 23,953,167 (GRCm39)	G241D	probably damaging	Het
Pola2	A	T	19: 6,003,802 (GRCm39)	V191D	possibly damaging	Het
Ralgapb	T	A	2: 158,291,367 (GRCm39)		probably null	Het
Rapgef4	T	C	2: 71,811,661 (GRCm39)	S11P	probably benign	Het
Rnf10	G	A	5: 115,395,136 (GRCm39)	R151C	probably damaging	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sbno2	A	T	10: 79,895,850 (GRCm39)	L977Q	probably damaging	Het
Sec14l3	G	A	11: 4,025,566 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,600,612 (GRCm39)	N243K	possibly damaging	Het
Slco2b1	T	A	7: 99,334,779 (GRCm39)	I231F	probably damaging	Het
Spag8	A	G	4: 43,652,458 (GRCm39)	F294S	probably damaging	Het
Speer4f1	G	A	5: 17,684,493 (GRCm39)	A174T	probably damaging	Het
Spred3	T	C	7: 28,862,402 (GRCm39)	D147G	probably benign	Het
Stard9	A	G	2: 120,527,241 (GRCm39)	D1166G	probably damaging	Het
Svep1	G	T	4: 58,104,536 (GRCm39)	T1229K	possibly damaging	Het
Tanc1	T	A	2: 59,669,305 (GRCm39)		probably null	Het
Tmem232	T	C	17: 65,737,800 (GRCm39)	Y420C	probably damaging	Het
Tubd1	A	T	11: 86,448,619 (GRCm39)	M311L	probably benign	Het
Tulp3	G	A	6: 128,332,703 (GRCm39)		probably null	Het
Usp42	T	C	5: 143,702,942 (GRCm39)	T560A	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,934 (GRCm39)	Y112F	probably damaging	Het
Vmn2r4	A	T	3: 64,322,699 (GRCm39)	C7S	probably benign	Het
Wrn	A	G	8: 33,774,682 (GRCm39)	M652T	probably benign	Het
Wsb1	G	A	11: 79,139,336 (GRCm39)	P120L	possibly damaging	Het
Zfp142	T	C	1: 74,609,667 (GRCm39)	E1376G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het

Other mutations in Ngef

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02221:Ngef	APN	1	87,468,418 (GRCm39)	missense	probably benign	0.06
IGL02475:Ngef	APN	1	87,406,872 (GRCm39)	missense	possibly damaging	0.79
IGL02478:Ngef	APN	1	87,408,301 (GRCm39)	splice site	probably benign
IGL03002:Ngef	APN	1	87,437,114 (GRCm39)	splice site	probably null
H8562:Ngef	UTSW	1	87,415,529 (GRCm39)	missense	possibly damaging	0.84
R0078:Ngef	UTSW	1	87,468,387 (GRCm39)	missense	probably benign	0.12
R0145:Ngef	UTSW	1	87,468,370 (GRCm39)	intron	probably benign
R0193:Ngef	UTSW	1	87,437,056 (GRCm39)	missense	probably benign	0.03
R0244:Ngef	UTSW	1	87,415,684 (GRCm39)	unclassified	probably benign
R0486:Ngef	UTSW	1	87,406,848 (GRCm39)	missense	probably damaging	1.00
R0865:Ngef	UTSW	1	87,412,323 (GRCm39)	missense	probably benign
R1824:Ngef	UTSW	1	87,430,986 (GRCm39)	critical splice donor site	probably null
R1994:Ngef	UTSW	1	87,415,626 (GRCm39)	missense	probably damaging	1.00
R2020:Ngef	UTSW	1	87,473,690 (GRCm39)	missense	probably benign	0.43
R4059:Ngef	UTSW	1	87,413,953 (GRCm39)	missense	probably damaging	0.99
R4770:Ngef	UTSW	1	87,405,283 (GRCm39)	missense	probably damaging	1.00
R4959:Ngef	UTSW	1	87,431,070 (GRCm39)	missense	possibly damaging	0.68
R5197:Ngef	UTSW	1	87,437,090 (GRCm39)	nonsense	probably null
R5286:Ngef	UTSW	1	87,473,552 (GRCm39)	missense	probably benign
R5293:Ngef	UTSW	1	87,431,151 (GRCm39)	small deletion	probably benign
R6065:Ngef	UTSW	1	87,405,370 (GRCm39)	missense	probably damaging	1.00
R6925:Ngef	UTSW	1	87,430,985 (GRCm39)	splice site	probably null
R7176:Ngef	UTSW	1	87,408,417 (GRCm39)	missense	possibly damaging	0.94
R7437:Ngef	UTSW	1	87,408,327 (GRCm39)	missense	probably damaging	0.98
R7760:Ngef	UTSW	1	87,468,495 (GRCm39)	missense	probably benign	0.00
R8058:Ngef	UTSW	1	87,473,744 (GRCm39)	nonsense	probably null
R8142:Ngef	UTSW	1	87,468,463 (GRCm39)	missense	probably benign
R8154:Ngef	UTSW	1	87,468,482 (GRCm39)	missense	probably benign
R8697:Ngef	UTSW	1	87,417,459 (GRCm39)	missense	probably damaging	0.99
R8769:Ngef	UTSW	1	87,408,883 (GRCm39)	missense	probably damaging	1.00
R8784:Ngef	UTSW	1	87,405,293 (GRCm39)	missense	probably damaging	1.00
R8790:Ngef	UTSW	1	87,405,319 (GRCm39)	missense	probably benign	0.10
R8907:Ngef	UTSW	1	87,405,376 (GRCm39)	missense	probably damaging	1.00
R9047:Ngef	UTSW	1	87,431,010 (GRCm39)	missense	probably damaging	0.96
R9050:Ngef	UTSW	1	87,431,010 (GRCm39)	missense	probably damaging	0.96
R9169:Ngef	UTSW	1	87,473,581 (GRCm39)	missense	probably benign	0.43
R9198:Ngef	UTSW	1	87,406,797 (GRCm39)	missense	unknown
R9434:Ngef	UTSW	1	87,408,315 (GRCm39)	missense	possibly damaging	0.89
R9466:Ngef	UTSW	1	87,431,010 (GRCm39)	missense	probably damaging	0.96
R9650:Ngef	UTSW	1	87,415,552 (GRCm39)	missense	possibly damaging	0.90
R9704:Ngef	UTSW	1	87,431,010 (GRCm39)	missense	probably damaging	0.96
R9705:Ngef	UTSW	1	87,431,010 (GRCm39)	missense	probably damaging	0.96
R9715:Ngef	UTSW	1	87,431,010 (GRCm39)	missense	probably damaging	0.96
R9721:Ngef	UTSW	1	87,406,857 (GRCm39)	missense	probably damaging	1.00
R9727:Ngef	UTSW	1	87,431,010 (GRCm39)	missense	probably damaging	0.96
R9750:Ngef	UTSW	1	87,431,010 (GRCm39)	missense	probably damaging	0.96
R9771:Ngef	UTSW	1	87,431,010 (GRCm39)	missense	probably damaging	0.96
Z1177:Ngef	UTSW	1	87,410,431 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AGAGTCAGATGCTCTCACCC -3'
(R):5'- ACCATGGCTGTTCCCTGTTG -3'

Sequencing Primer
(F):5'- CACCTGGCTAAATTGTGTGAC -3'
(R):5'- CCCTGTTGTGTTCAGAGGAGC -3'

Posted On

2018-02-27