Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL02983

Quality Score

Status

Chromosome

Chromosomal Location

49901835-49980994 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49957049 bp (GRCm38)

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
1700020D05Rik	A	G	19: 5,503,181	F191L	possibly damaging	Het
Abca13	A	G	11: 9,290,663	N842S	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Brip1	T	C	11: 86,139,124	I565V	probably benign	Het
Camta2	C	T	11: 70,672,022	R959Q	probably damaging	Het
Cbln2	A	G	18: 86,713,379	E104G	probably benign	Het
Cdc42ep4	T	C	11: 113,729,169	K132R	probably benign	Het
Clcnka	T	A	4: 141,390,131	I452F	probably damaging	Het
Clec4a3	T	A	6: 122,967,567		probably null	Het
Crat	A	C	2: 30,404,526		probably null	Het
Cspp1	A	G	1: 10,127,525	K227R	probably benign	Het
Ddx1	A	T	12: 13,223,862	I588N	probably damaging	Het
Dip2b	G	T	15: 100,132,022	R98L	possibly damaging	Het
Dock5	G	A	14: 67,764,670	P1617L	probably damaging	Het
Fa2h	C	T	8: 111,346,522		probably null	Het
Fezf1	T	A	6: 23,247,872	N68I	probably damaging	Het
Gabrb2	A	T	11: 42,421,400	L17F	probably benign	Het
Gm17078	T	C	14: 51,611,190	K30R	probably benign	Het
Gramd4	G	A	15: 86,127,018	V249M	probably damaging	Het
Kcnd2	A	C	6: 21,216,555	D86A	probably damaging	Het
Lrp1	T	C	10: 127,550,199	E3486G	probably damaging	Het
Ltb	A	G	17: 35,194,670	D50G	probably benign	Het
Med18	A	T	4: 132,459,686	Y167*	probably null	Het
Nat14	G	A	7: 4,924,128	A100T	probably damaging	Het
Nxph2	T	C	2: 23,400,362	V242A	probably damaging	Het
Olfr338	T	A	2: 36,377,637	I287N	probably damaging	Het
Olfr443-ps1	T	C	6: 43,094,648		noncoding transcript	Het
Olfr54	T	C	11: 51,027,380	V126A	probably damaging	Het
Olfr818	T	A	10: 129,945,189	N291I	probably damaging	Het
Pramef20	T	C	4: 144,373,127	E356G	probably benign	Het
Rad21l	A	G	2: 151,655,120	L358S	probably damaging	Het
Spata31d1a	A	G	13: 59,703,694	S207P	possibly damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Szt2	T	C	4: 118,365,779		probably benign	Het
Taf6	T	C	5: 138,178,880	T642A	probably benign	Het
Tmem30a	A	T	9: 79,771,443	M277K	possibly damaging	Het
Vmn1r86	T	C	7: 13,102,814	D45G	probably damaging	Het
Xkr5	T	C	8: 18,933,832	I565V	probably benign	Het
Zfp526	C	T	7: 25,224,415	A33V	probably benign	Het

Other mutations in Rasgef1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02243:Rasgef1c	APN	11	49957390	missense	possibly damaging	0.57
IGL03076:Rasgef1c	APN	11	49970246	missense	probably damaging	1.00
IGL03163:Rasgef1c	APN	11	49971373	missense	possibly damaging	0.96
R0324:Rasgef1c	UTSW	11	49961230	critical splice donor site	probably null
R1955:Rasgef1c	UTSW	11	49975715	missense	possibly damaging	0.67
R4204:Rasgef1c	UTSW	11	49958708	missense	probably benign	0.00
R4705:Rasgef1c	UTSW	11	49978467	missense	probably benign	0.42
R4952:Rasgef1c	UTSW	11	49979512	missense	probably damaging	0.99
R5084:Rasgef1c	UTSW	11	49969505	missense	probably damaging	1.00
R5121:Rasgef1c	UTSW	11	49960429	missense	probably damaging	1.00
R5564:Rasgef1c	UTSW	11	49957107	missense	probably benign	0.09
R5801:Rasgef1c	UTSW	11	49970056	missense	probably damaging	1.00
R5812:Rasgef1c	UTSW	11	49957143	missense	probably benign	0.01
R6601:Rasgef1c	UTSW	11	49971419	missense	probably damaging	0.99
R7751:Rasgef1c	UTSW	11	49970293	missense	probably damaging	0.99
R8112:Rasgef1c	UTSW	11	49967401	missense	probably damaging	1.00
R8498:Rasgef1c	UTSW	11	49971421	missense	probably damaging	1.00
X0027:Rasgef1c	UTSW	11	49969502	missense	probably damaging	1.00

Posted On

2016-08-02