Mutagenetix > Incidental Mutation

Incidental Mutation 'R6601:Rasgef1c'

525279

Institutional Source

Beutler Lab

Gene Symbol

Rasgef1c

Ensembl Gene

ENSMUSG00000020374

Gene Name

RasGEF domain family, member 1C

Synonyms

9130006A14Rik

MMRRC Submission

044725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R6601 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49791996-49871050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49862246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 378 (N378K)

Ref Sequence

ENSEMBL: ENSMUSP00000090829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063444] [ENSMUST00000093141] [ENSMUST00000093142]

AlphaFold

Q9D300

Predicted Effect

probably benign
Transcript: ENSMUST00000063444
AA Change: N381K

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065619
Gene: ENSMUSG00000020374
AA Change: N381K

Domain	Start	End	E-Value	Type
Pfam:RasGEF_N	40	141	2.4e-14	PFAM
RasGEF	199	450	4.54e-67	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000093141
AA Change: N337K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090828
Gene: ENSMUSG00000020374
AA Change: N337K

Domain	Start	End	E-Value	Type
Blast:RasGEFN	35	123	9e-30	BLAST
RasGEF	155	406	4.54e-67	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000093142
AA Change: N378K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090829
Gene: ENSMUSG00000020374
AA Change: N378K

Domain	Start	End	E-Value	Type
Pfam:RasGEF_N	38	138	8.5e-14	PFAM
RasGEF	196	447	4.54e-67	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109172

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	G	1: 58,102,665 (GRCm39)	L527R	probably damaging	Het
Ccdc172	T	A	19: 58,525,723 (GRCm39)	C194S	possibly damaging	Het
Ccnb1ip1	G	T	14: 51,031,121 (GRCm39)	T64K	possibly damaging	Het
Ces1b	T	C	8: 93,806,109 (GRCm39)	E44G	probably benign	Het
Coro2a	A	T	4: 46,543,421 (GRCm39)	Y317*	probably null	Het
Csnk1a1	T	C	18: 61,711,829 (GRCm39)	F281S	probably damaging	Het
Ddx28	A	T	8: 106,737,248 (GRCm39)		probably null	Het
Dtnbp1	A	G	13: 45,084,721 (GRCm39)		probably null	Het
Eif2s1	T	C	12: 78,930,126 (GRCm39)	I258T	possibly damaging	Het
Elp3	T	C	14: 65,784,488 (GRCm39)	*554W	probably null	Het
Golga1	T	C	2: 38,910,118 (GRCm39)	M610V	probably damaging	Het
Hc	T	A	2: 34,935,906 (GRCm39)	K156N	probably benign	Het
Hcls1	G	A	16: 36,782,748 (GRCm39)	G428D	probably benign	Het
Il16	T	C	7: 83,371,677 (GRCm39)	D43G	probably damaging	Het
Klhl3	C	A	13: 58,242,930 (GRCm39)	K91N	probably damaging	Het
L3mbtl1	C	T	2: 162,790,095 (GRCm39)		probably benign	Het
Lamc3	T	C	2: 31,810,544 (GRCm39)	F805L	possibly damaging	Het
Lipg	T	C	18: 75,081,275 (GRCm39)	M269V	probably benign	Het
Ly75	G	A	2: 60,148,720 (GRCm39)	T1203I	probably benign	Het
Mat1a	T	A	14: 40,827,561 (GRCm39)	V5E	probably benign	Het
Muc16	A	T	9: 18,548,866 (GRCm39)	L5809Q	probably benign	Het
Naip6	G	A	13: 100,420,266 (GRCm39)	R1335C	probably benign	Het
Ndufaf3	T	C	9: 108,443,416 (GRCm39)	H128R	probably benign	Het
Nphp4	A	T	4: 152,587,464 (GRCm39)		probably null	Het
Or8u8	T	A	2: 86,012,309 (GRCm39)	I49F	probably damaging	Het
Otop3	T	C	11: 115,230,673 (GRCm39)	V148A	probably damaging	Het
Ovgp1	T	C	3: 105,893,747 (GRCm39)		probably benign	Het
Pcsk5	T	G	19: 17,488,744 (GRCm39)	R1025S	probably benign	Het
Pkd1l2	T	C	8: 117,767,405 (GRCm39)	D1295G	probably benign	Het
Polr1d	T	A	5: 147,015,359 (GRCm39)	L14*	probably null	Het
Rab26	T	A	17: 24,748,595 (GRCm39)	K270*	probably null	Het
Rpl7a	T	C	2: 26,801,536 (GRCm39)	V76A	probably benign	Het
Samd9l	T	A	6: 3,377,229 (GRCm39)	I11F	possibly damaging	Het
Smarca2	C	A	19: 26,631,777 (GRCm39)	Q531K	probably benign	Het
Styxl1	C	G	5: 135,784,350 (GRCm39)	G211A	probably benign	Het
Taar9	T	C	10: 23,984,945 (GRCm39)	Y163C	probably damaging	Het
Tmem198	T	A	1: 75,457,017 (GRCm39)	F48I	possibly damaging	Het
Ttn	T	A	2: 76,595,073 (GRCm39)	N12032I	probably damaging	Het
Ubr7	T	A	12: 102,727,723 (GRCm39)	C82S	probably damaging	Het
Wwtr1	T	C	3: 57,483,159 (GRCm39)	E48G	possibly damaging	Het
Zfp108	T	C	7: 23,960,819 (GRCm39)	V470A	probably damaging	Het
Zfp612	C	A	8: 110,816,181 (GRCm39)	Q424K	possibly damaging	Het
Zscan4-ps1	T	C	7: 10,802,761 (GRCm39)	T13A	probably benign	Het

Other mutations in Rasgef1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02243:Rasgef1c	APN	11	49,848,217 (GRCm39)	missense	possibly damaging	0.57
IGL02983:Rasgef1c	APN	11	49,847,876 (GRCm39)	missense	possibly damaging	0.95
IGL03076:Rasgef1c	APN	11	49,861,073 (GRCm39)	missense	probably damaging	1.00
IGL03163:Rasgef1c	APN	11	49,862,200 (GRCm39)	missense	possibly damaging	0.96
R0324:Rasgef1c	UTSW	11	49,852,057 (GRCm39)	critical splice donor site	probably null
R1955:Rasgef1c	UTSW	11	49,866,542 (GRCm39)	missense	possibly damaging	0.67
R4204:Rasgef1c	UTSW	11	49,849,535 (GRCm39)	missense	probably benign	0.00
R4705:Rasgef1c	UTSW	11	49,869,294 (GRCm39)	missense	probably benign	0.42
R4952:Rasgef1c	UTSW	11	49,870,339 (GRCm39)	missense	probably damaging	0.99
R5084:Rasgef1c	UTSW	11	49,860,332 (GRCm39)	missense	probably damaging	1.00
R5121:Rasgef1c	UTSW	11	49,851,256 (GRCm39)	missense	probably damaging	1.00
R5564:Rasgef1c	UTSW	11	49,847,934 (GRCm39)	missense	probably benign	0.09
R5801:Rasgef1c	UTSW	11	49,860,883 (GRCm39)	missense	probably damaging	1.00
R5812:Rasgef1c	UTSW	11	49,847,970 (GRCm39)	missense	probably benign	0.01
R7751:Rasgef1c	UTSW	11	49,861,120 (GRCm39)	missense	probably damaging	0.99
R8112:Rasgef1c	UTSW	11	49,858,228 (GRCm39)	missense	probably damaging	1.00
R8498:Rasgef1c	UTSW	11	49,862,248 (GRCm39)	missense	probably damaging	1.00
R9681:Rasgef1c	UTSW	11	49,861,040 (GRCm39)	missense	probably damaging	1.00
X0027:Rasgef1c	UTSW	11	49,860,329 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCACTGATGCTGGGT -3'
(R):5'- AACAACAACAAAAGATGGGGTCT -3'

Sequencing Primer
(F):5'- GTGACCATGGGGCAGGG -3'
(R):5'- TAAGCTAGGCTGACTGTCCATAGAC -3'

Posted On

2018-06-22