Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03163:Rasgef1c'

411502

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasgef1c

Ensembl Gene

ENSMUSG00000020374

Gene Name

RasGEF domain family, member 1C

Synonyms

9130006A14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL03163

Quality Score

Status

Chromosome

Chromosomal Location

49791996-49871050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49862200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 363 (V363A)

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: V366A

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000065619
Gene: ENSMUSG00000020374
AA Change: V366A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093141
AA Change: V322A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090828
Gene: ENSMUSG00000020374
AA Change: V322A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093142
AA Change: V363A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090829
Gene: ENSMUSG00000020374
AA Change: V363A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,228,191 (GRCm39)	D393V	probably benign	Het
Amz2	C	A	11: 109,319,751 (GRCm39)	Q46K	probably benign	Het
Ankhd1	G	A	18: 36,780,681 (GRCm39)	R1911H	probably damaging	Het
Apba3	A	G	10: 81,105,057 (GRCm39)		probably null	Het
Atxn1l	T	C	8: 110,459,017 (GRCm39)	N415S	probably damaging	Het
Clu	C	T	14: 66,217,235 (GRCm39)	S356F	probably benign	Het
Cluh	T	C	11: 74,556,894 (GRCm39)	V1029A	probably benign	Het
Creb3	C	T	4: 43,566,315 (GRCm39)	L274F	probably damaging	Het
Dcaf8	T	C	1: 172,000,475 (GRCm39)	V211A	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Fam131c	T	C	4: 141,110,069 (GRCm39)	F156L	probably damaging	Het
Fbxw21	T	A	9: 108,974,552 (GRCm39)	I323F	probably benign	Het
Fmo9	A	G	1: 166,502,019 (GRCm39)	V202A	possibly damaging	Het
Gipr	C	T	7: 18,896,481 (GRCm39)	W205*	probably null	Het
Gm13941	A	T	2: 110,928,761 (GRCm39)	I99K	unknown	Het
Gpr22	A	T	12: 31,759,171 (GRCm39)	V317E	possibly damaging	Het
Hace1	T	C	10: 45,548,701 (GRCm39)	I582T	probably damaging	Het
Iho1	G	T	9: 108,282,132 (GRCm39)	L519I	probably benign	Het
Khdrbs1	T	C	4: 129,619,508 (GRCm39)	E211G	probably benign	Het
Lonrf1	T	C	8: 36,697,484 (GRCm39)	D500G	probably benign	Het
Lrp2	A	C	2: 69,331,870 (GRCm39)	Y1628*	probably null	Het
Lrrc40	T	C	3: 157,747,224 (GRCm39)	I112T	possibly damaging	Het
Matr3	G	A	18: 35,705,644 (GRCm39)	D190N	probably damaging	Het
Or8c16	T	C	9: 38,130,710 (GRCm39)	V194A	probably benign	Het
Ptpn13	A	T	5: 103,739,212 (GRCm39)	D2326V	probably damaging	Het
Ptpn3	T	C	4: 57,222,020 (GRCm39)	D557G	probably damaging	Het
Rangap1	A	T	15: 81,600,801 (GRCm39)	N194K	probably damaging	Het
Ric8b	A	G	10: 84,837,686 (GRCm39)	N498D	probably damaging	Het
Scn1a	A	C	2: 66,148,418 (GRCm39)	D22E	probably benign	Het
Spc25	T	G	2: 69,027,548 (GRCm39)	I115L	probably damaging	Het
Sspo	A	G	6: 48,461,266 (GRCm39)	H3569R	probably benign	Het
Stra6l	T	C	4: 45,881,455 (GRCm39)	I439T	probably benign	Het
Trappc12	G	T	12: 28,796,653 (GRCm39)	P293Q	probably damaging	Het
Trcg1	T	C	9: 57,155,630 (GRCm39)	L761P	possibly damaging	Het
Usp15	A	C	10: 123,007,049 (GRCm39)	M144R	probably damaging	Het
Vmn2r11	T	C	5: 109,201,692 (GRCm39)	I271V	probably benign	Het
Zcchc2	T	C	1: 105,958,841 (GRCm39)	V1104A	probably damaging	Het
Zftraf1	A	T	15: 76,543,474 (GRCm39)	L13Q	probably damaging	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
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
R6601:Rasgef1c	UTSW	11	49,862,246 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2016-08-02