Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02983:Rasgef1c'

406637

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 #

IGL02983

Quality Score

Status

Chromosome

Chromosomal Location

49791996-49871050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49847876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 4 (T4A)

Ref Sequence

ENSEMBL: ENSMUSP00000090828 (fasta)

Gene Model

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

AlphaFold

Q9D300

Predicted Effect

probably benign
Transcript: ENSMUST00000063444
AA Change: T7A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065619
Gene: ENSMUSG00000020374
AA Change: T7A

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: T4A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090828
Gene: ENSMUSG00000020374
AA Change: T4A

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: T4A

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090829
Gene: ENSMUSG00000020374
AA Change: T4A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,663 (GRCm39)	N842S	probably benign	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Brip1	T	C	11: 86,029,950 (GRCm39)	I565V	probably benign	Het
Camta2	C	T	11: 70,562,848 (GRCm39)	R959Q	probably damaging	Het
Cbln2	A	G	18: 86,731,504 (GRCm39)	E104G	probably benign	Het
Cdc42ep4	T	C	11: 113,619,995 (GRCm39)	K132R	probably benign	Het
Clcnka	T	A	4: 141,117,442 (GRCm39)	I452F	probably damaging	Het
Clec4a3	T	A	6: 122,944,526 (GRCm39)		probably null	Het
Crat	A	C	2: 30,294,538 (GRCm39)		probably null	Het
Cspp1	A	G	1: 10,197,750 (GRCm39)	K227R	probably benign	Het
Ddx1	A	T	12: 13,273,863 (GRCm39)	I588N	probably damaging	Het
Dip2b	G	T	15: 100,029,903 (GRCm39)	R98L	possibly damaging	Het
Dock5	G	A	14: 68,002,119 (GRCm39)	P1617L	probably damaging	Het
Fa2h	C	T	8: 112,073,154 (GRCm39)		probably null	Het
Fezf1	T	A	6: 23,247,871 (GRCm39)	N68I	probably damaging	Het
Gabrb2	A	T	11: 42,312,227 (GRCm39)	L17F	probably benign	Het
Gm17078	T	C	14: 51,848,647 (GRCm39)	K30R	probably benign	Het
Gramd4	G	A	15: 86,011,219 (GRCm39)	V249M	probably damaging	Het
Kcnd2	A	C	6: 21,216,554 (GRCm39)	D86A	probably damaging	Het
Lrp1	T	C	10: 127,386,068 (GRCm39)	E3486G	probably damaging	Het
Ltb	A	G	17: 35,413,646 (GRCm39)	D50G	probably benign	Het
Med18	A	T	4: 132,186,997 (GRCm39)	Y167*	probably null	Het
Nat14	G	A	7: 4,927,127 (GRCm39)	A100T	probably damaging	Het
Nscme3l	A	G	19: 5,553,209 (GRCm39)	F191L	possibly damaging	Het
Nxph2	T	C	2: 23,290,374 (GRCm39)	V242A	probably damaging	Het
Or1j10	T	A	2: 36,267,649 (GRCm39)	I287N	probably damaging	Het
Or1x2	T	C	11: 50,918,207 (GRCm39)	V126A	probably damaging	Het
Or2a55-ps1	T	C	6: 43,071,582 (GRCm39)		noncoding transcript	Het
Or6c219	T	A	10: 129,781,058 (GRCm39)	N291I	probably damaging	Het
Pramel15	T	C	4: 144,099,697 (GRCm39)	E356G	probably benign	Het
Rad21l	A	G	2: 151,497,040 (GRCm39)	L358S	probably damaging	Het
Spata31d1a	A	G	13: 59,851,508 (GRCm39)	S207P	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Szt2	T	C	4: 118,222,976 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,177,142 (GRCm39)	T642A	probably benign	Het
Tmem30a	A	T	9: 79,678,725 (GRCm39)	M277K	possibly damaging	Het
Vmn1r86	T	C	7: 12,836,741 (GRCm39)	D45G	probably damaging	Het
Xkr5	T	C	8: 18,983,848 (GRCm39)	I565V	probably benign	Het
Zfp526	C	T	7: 24,923,840 (GRCm39)	A33V	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
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
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