Mutagenetix > Incidental Mutations

Incidental Mutation 'R6597:Srgap1'

524954

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R6597 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121780991-122047315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121792371 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 899 (N899D)

Ref Sequence

ENSEMBL: ENSMUSP00000080389 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020322
AA Change: N876D

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: N876D

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: N899D

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: N899D

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

noncoding transcript
Transcript: ENSMUST00000161996

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (50/50)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	G	T	1: 136,226,189	A87E	probably damaging	Het
A2m	A	G	6: 121,648,121	Y486C	probably damaging	Het
Asb17	A	T	3: 153,844,684	T118S	probably damaging	Het
Atl2	T	A	17: 79,852,766	D293V	possibly damaging	Het
Bbs1	T	A	19: 4,899,306	M242L	probably benign	Het
Btg1	T	A	10: 96,618,320	S65T	probably damaging	Het
Cfap54	T	C	10: 92,999,040	D1101G	possibly damaging	Het
Cmpk2	G	T	12: 26,474,145	V314L	possibly damaging	Het
Fbxl8	A	C	8: 105,268,891	D345A	probably benign	Het
Gys2	T	A	6: 142,456,309	H268L	probably benign	Het
Hecw1	T	A	13: 14,316,818	R117*	probably null	Het
Hoxd10	G	A	2: 74,692,640	A221T	probably benign	Het
Hspa13	A	T	16: 75,765,197	L38Q	probably damaging	Het
Ipo11	A	G	13: 106,865,863		probably null	Het
Itgb8	A	G	12: 119,173,398	V390A	possibly damaging	Het
Kalrn	T	A	16: 34,182,747	I1370F	probably damaging	Het
Macf1	T	C	4: 123,382,692	N6086S	probably damaging	Het
Ms4a13	T	C	19: 11,192,939	T14A	probably benign	Het
Olfr1164	A	G	2: 88,093,069	F289S	probably damaging	Het
Olfr1500	T	A	19: 13,828,457		probably benign	Het
Olfr204	C	T	16: 59,315,350	R19H	probably benign	Het
Olfr545	A	T	7: 102,494,421	I118N	probably damaging	Het
Olfr742	T	A	14: 50,515,551	C116S	probably benign	Het
Olfr911-ps1	A	T	9: 38,524,004	I91F	probably benign	Het
Patl2	T	A	2: 122,186,164		probably benign	Het
Pcdhga7	T	C	18: 37,717,006	S689P	probably benign	Het
Pitpnc1	G	T	11: 107,226,232	Y227*	probably null	Het
Pla2g2e	T	C	4: 138,880,673	V22A	unknown	Het
Ppil1	C	A	17: 29,261,878	V24F	probably benign	Het
Prl3b1	G	A	13: 27,247,974		probably null	Het
Rabgef1	G	A	5: 130,191,044		probably null	Het
Rhot2	A	T	17: 25,840,912	W341R	probably damaging	Het
Rps6kc1	A	T	1: 190,750,184	W286R	probably benign	Het
Rrs1	A	G	1: 9,546,376	T285A	probably damaging	Het
Shc3	T	A	13: 51,442,973	D338V	possibly damaging	Het
Siglech	A	T	7: 55,768,463	M60L	probably benign	Het
Slc12a6	G	T	2: 112,352,935	V756F	probably damaging	Het
Slc43a2	G	A	11: 75,571,855	G507D	probably damaging	Het
Slf1	A	G	13: 77,049,129	S789P	probably benign	Het
Spata31d1d	C	A	13: 59,726,057	M1221I	probably benign	Het
Stag1	G	A	9: 100,887,420	M529I	probably benign	Het
Tekt3	A	G	11: 63,081,259	D247G	probably benign	Het
Tmppe	A	T	9: 114,405,244	M204L	probably benign	Het
Tpsg1	G	A	17: 25,369,297		probably benign	Het
Ttn	A	G	2: 76,797,971	V6288A	probably benign	Het
Ttn	A	T	2: 76,893,100		probably benign	Het
Twsg1	C	A	17: 65,937,804	V73F	probably damaging	Het
Vmn2r102	A	G	17: 19,694,188	T672A	probably damaging	Het
Vps36	A	G	8: 22,202,304	I66V	probably benign	Het
Xrcc4	A	T	13: 90,000,929	D157E	probably benign	Het
Zbbx	T	A	3: 75,136,454	Q162L	probably damaging	Het
Zfp560	T	A	9: 20,348,001	I522L	probably benign	Het
Zscan20	T	C	4: 128,585,746	N984S	probably damaging	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
R0801:Srgap1	UTSW	10	121807875	missense	probably damaging	0.96
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
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'- CACTATACCTGAGCAATCGTCTCG -3'
(R):5'- GTCATCCGGTGTCAAAAGCTC -3'

Sequencing Primer
(F):5'- AATCGTCTCGGGGTCCAGTG -3'
(R):5'- CGGTGTCAAAAGCTCTTCTG -3'

Posted On

2018-06-22