Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01457:Rasgef1a'

84830

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasgef1a

Ensembl Gene

ENSMUSG00000030134

Gene Name

RasGEF domain family, member 1A

Synonyms

6330404M18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01457

Quality Score

Status

Chromosome

Chromosomal Location

117988466-118068507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118061506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 157 (T157I)

Ref Sequence

ENSEMBL: ENSMUSP00000145077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164960] [ENSMUST00000203482] [ENSMUST00000203804]

AlphaFold

A0A0N4SVR5

Predicted Effect

probably benign
Transcript: ENSMUST00000164960
AA Change: T149I

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132244
Gene: ENSMUSG00000030134
AA Change: T149I

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
RasGEFN	49	178	1.69e-3	SMART
RasGEF	218	470	7.23e-52	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184597

Predicted Effect

probably benign
Transcript: ENSMUST00000203482
AA Change: T157I

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145077
Gene: ENSMUSG00000030134
AA Change: T157I

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
RasGEFN	49	178	1.69e-3	SMART
RasGEF	218	470	7.23e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203804
AA Change: T157I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000145214
Gene: ENSMUSG00000030134
AA Change: T157I

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
RasGEFN	49	177	1.3e-5	SMART
low complexity region	184	199	N/A	INTRINSIC
RasGEF	227	479	4.5e-54	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,382,908 (GRCm39)	Y1019F	probably benign	Het
4930455H04Rik	T	G	3: 116,762,200 (GRCm39)		probably benign	Het
9830107B12Rik	A	T	17: 48,439,193 (GRCm39)		probably benign	Het
Abcc8	A	G	7: 45,784,917 (GRCm39)	V737A	possibly damaging	Het
Adamts20	T	A	15: 94,229,329 (GRCm39)	Y930F	probably damaging	Het
Alkbh8	T	A	9: 3,369,825 (GRCm39)	F365I	probably damaging	Het
App	G	A	16: 84,900,127 (GRCm39)	H108Y	probably damaging	Het
Bfsp1	T	C	2: 143,669,564 (GRCm39)		probably benign	Het
Bltp3b	T	C	10: 89,641,624 (GRCm39)	S932P	probably benign	Het
Cabin1	T	C	10: 75,578,263 (GRCm39)	N478S	probably damaging	Het
Camsap3	G	A	8: 3,654,795 (GRCm39)	V796I	probably damaging	Het
Carns1	A	T	19: 4,216,498 (GRCm39)		probably null	Het
Ccdc121	A	T	5: 31,644,771 (GRCm39)	I175L	probably benign	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cltc	C	T	11: 86,593,074 (GRCm39)	M1600I	probably benign	Het
Cnot1	T	A	8: 96,467,637 (GRCm39)	N1499Y	probably damaging	Het
Crebbp	T	A	16: 3,942,632 (GRCm39)	I196L	probably damaging	Het
Drc3	C	A	11: 60,249,475 (GRCm39)		probably benign	Het
Fam161a	T	A	11: 22,970,702 (GRCm39)	Y234*	probably null	Het
Il1r1	C	A	1: 40,352,330 (GRCm39)	P500Q	probably damaging	Het
Katnal1	G	T	5: 148,830,607 (GRCm39)		probably benign	Het
Klhdc2	A	G	12: 69,343,827 (GRCm39)	N20S	probably benign	Het
Kmt2e	A	T	5: 23,707,017 (GRCm39)	T1527S	possibly damaging	Het
Magi1	C	T	6: 93,724,205 (GRCm39)	G270D	probably damaging	Het
Mdn1	T	A	4: 32,715,922 (GRCm39)	S2035T	possibly damaging	Het
Mki67	A	T	7: 135,301,275 (GRCm39)	M1253K	probably benign	Het
Myh7	T	C	14: 55,226,336 (GRCm39)	M435V	possibly damaging	Het
Myh8	A	G	11: 67,183,505 (GRCm39)	I739V	probably benign	Het
Npnt	T	C	3: 132,591,743 (GRCm39)	K430R	probably damaging	Het
Nrdc	A	G	4: 108,904,857 (GRCm39)	N696S	probably benign	Het
Oit3	T	C	10: 59,261,306 (GRCm39)		probably benign	Het
Or51a10	A	G	7: 103,699,376 (GRCm39)	Y62H	probably damaging	Het
Or51s1	A	G	7: 102,558,926 (GRCm39)	I40T	possibly damaging	Het
Or5bw2	A	G	7: 6,573,211 (GRCm39)	T74A	probably benign	Het
Or5p6	A	T	7: 107,631,328 (GRCm39)	I74K	possibly damaging	Het
Pkd1	G	A	17: 24,813,795 (GRCm39)		probably null	Het
Plat	A	G	8: 23,266,844 (GRCm39)	M279V	probably benign	Het
Prkd1	A	T	12: 50,439,693 (GRCm39)	L378*	probably null	Het
Rbm22	A	G	18: 60,693,929 (GRCm39)	N11S	probably damaging	Het
Ros1	T	C	10: 51,922,426 (GRCm39)		probably benign	Het
Sema6d	T	A	2: 124,495,562 (GRCm39)	F3Y	unknown	Het
Sis	T	C	3: 72,868,354 (GRCm39)	D112G	probably benign	Het
Slit1	C	A	19: 41,599,483 (GRCm39)	G1023C	probably damaging	Het
Spata31h1	C	A	10: 82,120,568 (GRCm39)	K4147N	probably damaging	Het
Sptb	T	C	12: 76,659,329 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,475,277 (GRCm39)	I4881T	probably benign	Het
Supt6	C	A	11: 78,111,969 (GRCm39)	D1038Y	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,144 (GRCm39)	L945Q	probably damaging	Het
Tgfbr3	G	T	5: 107,297,764 (GRCm39)	A212E	probably damaging	Het
Tipin	A	G	9: 64,211,690 (GRCm39)	T259A	probably benign	Het
Traip	T	C	9: 107,847,671 (GRCm39)	S365P	probably benign	Het
Tst	T	C	15: 78,283,967 (GRCm39)	T287A	probably benign	Het
Tube1	C	T	10: 39,021,718 (GRCm39)		probably benign	Het
Vmn1r37	T	A	6: 66,708,393 (GRCm39)	N6K	probably damaging	Het
Vmn2r111	C	A	17: 22,790,966 (GRCm39)	E111*	probably null	Het
Vmn2r17	C	T	5: 109,600,898 (GRCm39)	T732I	probably benign	Het
Vmn2r69	A	T	7: 85,055,836 (GRCm39)	D767E	possibly damaging	Het

Other mutations in Rasgef1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00808:Rasgef1a	APN	6	118,065,164 (GRCm39)	missense	probably damaging	1.00
IGL01292:Rasgef1a	APN	6	118,057,344 (GRCm39)	missense	possibly damaging	0.51
IGL02045:Rasgef1a	APN	6	118,066,404 (GRCm39)	missense	probably benign
IGL02502:Rasgef1a	APN	6	118,057,443 (GRCm39)	missense	probably benign	0.00
IGL02902:Rasgef1a	APN	6	118,060,068 (GRCm39)	missense	probably benign	0.10
IGL03224:Rasgef1a	APN	6	118,066,767 (GRCm39)	splice site	probably benign
R2001:Rasgef1a	UTSW	6	118,066,157 (GRCm39)	missense	probably benign	0.01
R4477:Rasgef1a	UTSW	6	118,062,436 (GRCm39)	missense	possibly damaging	0.59
R4863:Rasgef1a	UTSW	6	118,066,100 (GRCm39)	missense	probably benign	0.00
R5422:Rasgef1a	UTSW	6	118,065,095 (GRCm39)	missense	probably damaging	1.00
R5862:Rasgef1a	UTSW	6	118,057,405 (GRCm39)	missense	probably benign	0.43
R5911:Rasgef1a	UTSW	6	118,061,335 (GRCm39)	splice site	probably null
R5914:Rasgef1a	UTSW	6	118,057,515 (GRCm39)	missense	possibly damaging	0.89
R6788:Rasgef1a	UTSW	6	118,064,174 (GRCm39)	missense	possibly damaging	0.93
R8680:Rasgef1a	UTSW	6	118,064,088 (GRCm39)	missense	probably damaging	1.00
R9227:Rasgef1a	UTSW	6	118,066,110 (GRCm39)	missense	possibly damaging	0.52
R9273:Rasgef1a	UTSW	6	118,063,223 (GRCm39)	missense	probably benign
R9509:Rasgef1a	UTSW	6	118,061,391 (GRCm39)	nonsense	probably null

Posted On

2013-11-11