Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02805:Srgap3'

360370

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srgap3

Ensembl Gene

ENSMUSG00000030257

Gene Name

SLIT-ROBO Rho GTPase activating protein 3

Synonyms

D130026O08Rik, Arhgap14

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

112717971-112947266 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 112727263 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 922 (H922N)

Ref Sequence

ENSEMBL: ENSMUSP00000108794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088373] [ENSMUST00000113169]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000088373
AA Change: H946N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: H946N

Domain	Start	End	E-Value	Type
FCH	22	120	3.81e-16	SMART
low complexity region	172	190	N/A	INTRINSIC
coiled coil region	353	392	N/A	INTRINSIC
low complexity region	484	495	N/A	INTRINSIC
RhoGAP	517	691	7.43e-66	SMART
SH3	747	802	9.69e-15	SMART
coiled coil region	955	985	N/A	INTRINSIC
low complexity region	1025	1038	N/A	INTRINSIC
low complexity region	1053	1064	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113169
AA Change: H922N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: H922N

Domain	Start	End	E-Value	Type
FCH	22	120	3.81e-16	SMART
low complexity region	172	190	N/A	INTRINSIC
coiled coil region	353	392	N/A	INTRINSIC
Blast:RhoGAP	434	474	4e-11	BLAST
low complexity region	476	488	N/A	INTRINSIC
RhoGAP	493	667	7.43e-66	SMART
SH3	723	778	9.69e-15	SMART
coiled coil region	931	961	N/A	INTRINSIC
low complexity region	1001	1014	N/A	INTRINSIC
low complexity region	1029	1040	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in spine density in the brain CA1 and cortical layers IV/V. Mice homozygous for a different knock-out allele exhibit a neurodevelopment disorder with schizophrenia-related intermediate phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,223,133		probably benign	Het
Ankdd1b	A	G	13: 96,444,302	S163P	probably benign	Het
Ap5z1	G	A	5: 142,470,283		probably benign	Het
Asb14	A	G	14: 26,901,187	N172S	possibly damaging	Het
Avil	G	A	10: 127,007,617	V139I	possibly damaging	Het
C130073F10Rik	A	T	4: 101,890,974	M1K	probably null	Het
Ccdc189	T	C	7: 127,586,394	D121G	possibly damaging	Het
Ccdc33	T	A	9: 58,098,591	I37F	probably benign	Het
Ccdc9	T	C	7: 16,275,274	M550V	probably benign	Het
Cgn	T	A	3: 94,774,377	L469F	probably damaging	Het
Dnaaf3	C	T	7: 4,523,705	G458R	possibly damaging	Het
Dscaml1	T	A	9: 45,447,897	N151K	probably damaging	Het
Dsel	A	G	1: 111,862,316	V163A	probably damaging	Het
Dusp27	T	C	1: 166,099,061	E994G	probably damaging	Het
Epg5	A	G	18: 78,030,191		probably benign	Het
Fanca	A	T	8: 123,289,494	I670N	probably damaging	Het
Fsip2	T	C	2: 82,993,495	V6524A	probably benign	Het
Gm10985	T	C	3: 53,845,093		probably null	Het
Gm1818	C	T	12: 48,555,735		noncoding transcript	Het
Hars2	C	T	18: 36,787,577	R158*	probably null	Het
Htr5b	A	G	1: 121,527,888	V101A	probably damaging	Het
Ipp	A	G	4: 116,529,688	I356V	possibly damaging	Het
Itga8	T	A	2: 12,189,480	N703I	possibly damaging	Het
Olfr147	T	A	9: 38,403,836		probably benign	Het
Ppp6r3	T	C	19: 3,492,428	N406D	probably benign	Het
Rbbp6	G	A	7: 123,001,188		probably benign	Het
Rgs7	T	C	1: 175,149,696	Y114C	probably damaging	Het
Ripor1	A	G	8: 105,617,571	T446A	probably damaging	Het
Rnf213	A	G	11: 119,435,066	D1562G	probably damaging	Het
Scaf11	A	T	15: 96,420,182	D500E	possibly damaging	Het
Spock1	A	G	13: 57,907,577	I4T	possibly damaging	Het
Srebf2	C	A	15: 82,169,844	N35K	probably benign	Het
Stk32c	A	C	7: 139,121,846	H112Q	probably damaging	Het
Thumpd3	A	G	6: 113,066,797	D391G	probably damaging	Het
Vmn2r38	T	A	7: 9,075,547	H612L	probably damaging	Het
Vsig10l	T	G	7: 43,465,242	I289S	probably damaging	Het
Wwox	G	A	8: 114,712,013	G273E	probably damaging	Het
Zscan4d	T	G	7: 11,164,970		probably benign	Het

Other mutations in Srgap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Srgap3	APN	6	112739397	missense	probably damaging	0.98
IGL01325:Srgap3	APN	6	112775686	missense	probably damaging	1.00
IGL01608:Srgap3	APN	6	112946478	missense	probably benign	0.00
IGL01626:Srgap3	APN	6	112773648	missense	probably damaging	0.98
IGL01787:Srgap3	APN	6	112723022	missense	probably benign	0.00
IGL02698:Srgap3	APN	6	112746928	missense	probably damaging	0.98
IGL02813:Srgap3	APN	6	112731480	missense	probably damaging	1.00
IGL02876:Srgap3	APN	6	112771453	missense	probably damaging	1.00
IGL03264:Srgap3	APN	6	112816675	missense	probably damaging	1.00
IGL03342:Srgap3	APN	6	112775687	missense	probably damaging	1.00
R0007:Srgap3	UTSW	6	112829512	missense	probably damaging	1.00
R0371:Srgap3	UTSW	6	112771471	missense	probably damaging	0.99
R0607:Srgap3	UTSW	6	112723119	missense	probably damaging	1.00
R1628:Srgap3	UTSW	6	112739370	missense	probably damaging	0.99
R1669:Srgap3	UTSW	6	112722904	missense	probably benign	0.36
R1858:Srgap3	UTSW	6	112771518	missense	probably damaging	1.00
R1876:Srgap3	UTSW	6	112775566	missense	probably damaging	0.98
R1896:Srgap3	UTSW	6	112738997	missense	probably benign	0.11
R2159:Srgap3	UTSW	6	112771378	missense	probably damaging	0.99
R2221:Srgap3	UTSW	6	112946493	missense	probably damaging	0.98
R2862:Srgap3	UTSW	6	112722972	missense	probably damaging	0.99
R3160:Srgap3	UTSW	6	112729658	missense	probably benign	0.00
R3162:Srgap3	UTSW	6	112729658	missense	probably benign	0.00
R4092:Srgap3	UTSW	6	112723084	missense	probably benign	0.00
R4561:Srgap3	UTSW	6	112781054	missense	probably damaging	0.98
R4781:Srgap3	UTSW	6	112757425	intron	probably benign
R4825:Srgap3	UTSW	6	112727310	missense	probably benign
R4887:Srgap3	UTSW	6	112746934	missense	probably damaging	1.00
R5304:Srgap3	UTSW	6	112766939	missense	probably damaging	1.00
R5556:Srgap3	UTSW	6	112739078	missense	probably damaging	0.99
R5672:Srgap3	UTSW	6	112775561	missense	probably benign
R5879:Srgap3	UTSW	6	112722846	missense	possibly damaging	0.67
R5944:Srgap3	UTSW	6	112795814	missense	possibly damaging	0.89
R6277:Srgap3	UTSW	6	112739383	missense	probably benign	0.02
R6298:Srgap3	UTSW	6	112816610	missense	probably damaging	0.98
R6407:Srgap3	UTSW	6	112723006	missense	probably damaging	0.99
R6408:Srgap3	UTSW	6	112723006	missense	probably damaging	0.99
R6797:Srgap3	UTSW	6	112829542	missense	probably damaging	1.00
R6852:Srgap3	UTSW	6	112816661	missense	probably damaging	1.00
R6965:Srgap3	UTSW	6	112723129	missense	probably damaging	1.00
R7055:Srgap3	UTSW	6	112746963	missense	probably damaging	0.97
R7067:Srgap3	UTSW	6	112757305	intron	probably benign
R7361:Srgap3	UTSW	6	112746921	missense	probably damaging	0.99
R7479:Srgap3	UTSW	6	112735833	critical splice donor site	probably null
R7606:Srgap3	UTSW	6	112739376	missense	probably benign	0.00
R7731:Srgap3	UTSW	6	112766897	missense	probably benign	0.36
R7787:Srgap3	UTSW	6	112775559	missense	probably benign	0.02
R7934:Srgap3	UTSW	6	112731489	missense	probably damaging	1.00
R8026:Srgap3	UTSW	6	112739364	missense	probably benign	0.00
R8040:Srgap3	UTSW	6	112739364	missense	probably benign	0.00
R8066:Srgap3	UTSW	6	112771378	missense	probably damaging	0.99
R8067:Srgap3	UTSW	6	112739364	missense	probably benign	0.00
R8090:Srgap3	UTSW	6	112781035	nonsense	probably null
R8151:Srgap3	UTSW	6	112816667	missense	probably damaging	1.00
R8248:Srgap3	UTSW	6	112723143	missense	probably damaging	1.00
R8365:Srgap3	UTSW	6	112816734	missense	probably damaging	1.00
R8369:Srgap3	UTSW	6	112722818	missense	probably benign
R8444:Srgap3	UTSW	6	112775548	missense	possibly damaging	0.56
R8509:Srgap3	UTSW	6	112731336	nonsense	probably null
R8772:Srgap3	UTSW	6	112766945	missense	probably damaging	1.00
R8827:Srgap3	UTSW	6	112739341	missense	probably damaging	1.00
R8881:Srgap3	UTSW	6	112723137	missense	probably benign
R9002:Srgap3	UTSW	6	112780893	missense	possibly damaging	0.76
R9041:Srgap3	UTSW	6	112777093	missense	probably damaging	0.99
R9198:Srgap3	UTSW	6	112766904	missense	probably damaging	1.00
R9404:Srgap3	UTSW	6	112729655	missense	probably benign	0.04
R9616:Srgap3	UTSW	6	112771563	missense	probably damaging	1.00
X0062:Srgap3	UTSW	6	112795786	missense	probably damaging	1.00

Posted On

2015-12-18