Mutagenetix > Incidental Mutations

Incidental Mutation 'R0801:Srgap1'

76290

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

MMRRC Submission

038981-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R0801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121780991-122047315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121807875 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 612 (F612L)

Ref Sequence

ENSEMBL: ENSMUSP00000020322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020322] [ENSMUST00000081688] [ENSMUST00000161156]

PDB Structure

Crystal structure of srGAP1 SH3 domain in the slit-robo signaling pathway [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020322
AA Change: F612L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: F612L

Domain	Start	End	E-Value	Type
FCH	22	121	3.81e-16	SMART
low complexity region	173	193	N/A	INTRINSIC
coiled coil region	352	382	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC
RhoGAP	494	668	1.27e-64	SMART
SH3	723	778	1.57e-14	SMART
low complexity region	826	840	N/A	INTRINSIC
low complexity region	1004	1014	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081688
AA Change: F635L

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: F635L

Domain	Start	End	E-Value	Type
FCH	22	121	3.81e-16	SMART
low complexity region	173	193	N/A	INTRINSIC
coiled coil region	352	382	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC
RhoGAP	517	691	1.27e-64	SMART
SH3	746	801	1.57e-14	SMART
low complexity region	849	863	N/A	INTRINSIC
low complexity region	1027	1037	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161156
AA Change: F63L

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125109
Gene: ENSMUSG00000020121
AA Change: F63L

Domain	Start	End	E-Value	Type
Pfam:RhoGAP	1	68	2.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161996

Meta Mutation Damage Score

0.6195

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.6%
20x: 94.7%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	A	G	10: 43,174,991	K94E	possibly damaging	Het
Aldh16a1	A	T	7: 45,147,476	C228S	probably benign	Het
Arnt	G	T	3: 95,493,846	R702L	possibly damaging	Het
Ccdc174	A	G	6: 91,895,332	E314G	possibly damaging	Het
Ccdc81	T	C	7: 89,887,658		probably null	Het
Ccdc92	T	C	5: 124,836,271	T65A	probably benign	Het
Cenpm	A	T	15: 82,234,466	I149N	probably benign	Het
Cfap44	C	T	16: 44,422,486	S751L	probably benign	Het
Cntrl	A	G	2: 35,175,095		probably benign	Het
Col1a2	A	G	6: 4,531,316	T762A	unknown	Het
Crebbp	T	C	16: 4,088,276	K1621E	probably damaging	Het
Cux1	T	A	5: 136,326,929	I374L	probably damaging	Het
Dgkq	A	T	5: 108,660,720		probably null	Het
Dis3l	T	C	9: 64,319,154	I365V	probably benign	Het
Dock2	T	C	11: 34,708,793	R320G	probably damaging	Het
Dst	A	G	1: 34,170,389	N853S	probably damaging	Het
Egf	T	C	3: 129,702,585		probably benign	Het
Eif2ak2	T	A	17: 78,866,349	R267*	probably null	Het
Ern2	A	G	7: 122,180,862		probably benign	Het
Ero1lb	A	G	13: 12,581,687	S123G	probably benign	Het
Fam13a	G	T	6: 58,984,012	N118K	probably benign	Het
Gcn1l1	T	A	5: 115,591,006	M792K	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Irf3	C	T	7: 45,000,634		probably benign	Het
Map2k5	T	A	9: 63,357,979		probably benign	Het
Mcf2l	T	A	8: 13,014,020		probably benign	Het
Mdga2	A	T	12: 66,486,733	I878K	probably damaging	Het
Mdn1	T	C	4: 32,668,895	S318P	probably benign	Het
Olfr1107	G	A	2: 87,072,063	Q24*	probably null	Het
Olfr525	G	A	7: 140,322,918	C73Y	probably damaging	Het
Pklr	G	A	3: 89,145,522	W527*	probably null	Het
Pnpla5	T	C	15: 84,113,920	M374V	probably benign	Het
Ptprn	G	T	1: 75,252,265	H835Q	probably damaging	Het
R3hdm4	A	G	10: 79,913,357		probably benign	Het
Rgs8	T	A	1: 153,670,811	C19S	probably damaging	Het
Smarca4	C	A	9: 21,642,554	Q575K	possibly damaging	Het
Svil	A	G	18: 5,099,443	R1256G	probably benign	Het
Tox4	T	C	14: 52,279,878	S22P	probably benign	Het
Ttc39d	A	G	17: 80,216,215	Y101C	probably damaging	Het
Usb1	T	C	8: 95,333,540		probably null	Het
Vps13a	T	C	19: 16,686,656		probably benign	Het
Vps26a	G	A	10: 62,459,078		probably benign	Het
Zfp638	T	A	6: 83,972,238		probably benign	Het

Other mutations in Srgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01964:Srgap1	APN	10	121804966	missense	possibly damaging	0.81
IGL02106:Srgap1	APN	10	121785693	missense	possibly damaging	0.95
IGL02927:Srgap1	APN	10	121855462	missense	probably damaging	0.99
IGL03088:Srgap1	APN	10	121825693	missense	possibly damaging	0.94
IGL03208:Srgap1	APN	10	121792266	missense	possibly damaging	0.89
IGL03251:Srgap1	APN	10	121804921	splice site	probably null
PIT1430001:Srgap1	UTSW	10	121896753	splice site	probably benign
R0052:Srgap1	UTSW	10	121800827	missense	possibly damaging	0.94
R0052:Srgap1	UTSW	10	121800827	missense	possibly damaging	0.94
R0356:Srgap1	UTSW	10	121855536	splice site	probably null
R0361:Srgap1	UTSW	10	122047192	start codon destroyed	probably null	0.89
R0365:Srgap1	UTSW	10	121785705	missense	possibly damaging	0.80
R0675:Srgap1	UTSW	10	121792235	missense	probably damaging	1.00
R0815:Srgap1	UTSW	10	121785474	missense	probably damaging	0.99
R1034:Srgap1	UTSW	10	121785445	missense	possibly damaging	0.69
R1160:Srgap1	UTSW	10	121855477	missense	probably benign	0.01
R1454:Srgap1	UTSW	10	121896738	missense	probably damaging	0.99
R1624:Srgap1	UTSW	10	121855373	missense	probably benign	0.03
R1628:Srgap1	UTSW	10	121870339	missense	probably benign	0.15
R1816:Srgap1	UTSW	10	121925971	nonsense	probably null
R1933:Srgap1	UTSW	10	121925903	missense	possibly damaging	0.89
R2034:Srgap1	UTSW	10	121792746	missense	probably damaging	0.98
R2211:Srgap1	UTSW	10	121853740	missense	possibly damaging	0.55
R2295:Srgap1	UTSW	10	121794760	missense	probably benign	0.03
R2368:Srgap1	UTSW	10	121829289	missense	probably benign	0.05
R3796:Srgap1	UTSW	10	122047132	missense	probably benign	0.06
R4083:Srgap1	UTSW	10	121785690	missense	probably damaging	1.00
R4172:Srgap1	UTSW	10	121855363	missense	probably benign	0.00
R4322:Srgap1	UTSW	10	121869806	missense	probably damaging	1.00
R4401:Srgap1	UTSW	10	121804921	splice site	probably null
R4513:Srgap1	UTSW	10	121870326	critical splice donor site	probably null
R4698:Srgap1	UTSW	10	121792487	missense	probably benign	0.22
R4776:Srgap1	UTSW	10	121792351	missense	probably benign	0.03
R4951:Srgap1	UTSW	10	121785552	missense	probably benign	0.20
R5116:Srgap1	UTSW	10	121792379	missense	possibly damaging	0.77
R5232:Srgap1	UTSW	10	121840911	missense	probably benign	0.00
R5237:Srgap1	UTSW	10	121807883	missense	probably damaging	1.00
R5335:Srgap1	UTSW	10	121785377	utr 3 prime	probably benign
R5402:Srgap1	UTSW	10	121785760	missense	probably benign	0.06
R5432:Srgap1	UTSW	10	121869823	missense	probably damaging	1.00
R5456:Srgap1	UTSW	10	121869811	missense	probably benign	0.45
R5669:Srgap1	UTSW	10	121804850	missense	probably benign	0.00
R5682:Srgap1	UTSW	10	121805014	missense	probably damaging	1.00
R5687:Srgap1	UTSW	10	121825636	missense	probably damaging	1.00
R5773:Srgap1	UTSW	10	121896709	missense	probably benign	0.02
R5832:Srgap1	UTSW	10	121840914	missense	probably damaging	1.00
R6028:Srgap1	UTSW	10	121828730	missense	probably null
R6240:Srgap1	UTSW	10	122047156	missense	probably benign	0.06
R6336:Srgap1	UTSW	10	121925941	missense	probably benign	0.01
R6435:Srgap1	UTSW	10	121800827	missense	possibly damaging	0.94
R6597:Srgap1	UTSW	10	121792371	missense	probably benign	0.11
R6798:Srgap1	UTSW	10	121925904	missense	probably damaging	1.00
R6807:Srgap1	UTSW	10	121828726	splice site	probably null
R6897:Srgap1	UTSW	10	121785618	missense	probably damaging	0.96
R7057:Srgap1	UTSW	10	121804953	missense	probably benign	0.20
R7196:Srgap1	UTSW	10	121840848	missense	probably benign	0.00
R7247:Srgap1	UTSW	10	121869790	missense	probably damaging	0.98
R7404:Srgap1	UTSW	10	121785745	missense	probably benign	0.18
R7467:Srgap1	UTSW	10	121855439	nonsense	probably null
R7792:Srgap1	UTSW	10	121925967	missense	probably damaging	0.98
R7846:Srgap1	UTSW	10	121785492	missense	probably damaging	0.97
R7896:Srgap1	UTSW	10	121853553	critical splice donor site	probably benign
R7912:Srgap1	UTSW	10	121853553	critical splice donor site	probably benign
R8127:Srgap1	UTSW	10	121855366	missense	probably null	0.04
R8233:Srgap1	UTSW	10	121825436	missense	probably damaging	1.00
R8248:Srgap1	UTSW	10	121804817	missense	probably damaging	0.99
R8362:Srgap1	UTSW	10	121855478	missense	possibly damaging	0.46
X0063:Srgap1	UTSW	10	121785412	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAAAGAAAGCGTCCCTTCTGTCTCC -3'
(R):5'- GGACTCTGAATTGCTCAAGGCCAAG -3'

Sequencing Primer
(F):5'- CACTCAGTCACTTTGCCTGC -3'
(R):5'- tcattgggggtcacatcaag -3'

Posted On

2013-10-16