Mutagenetix > Incidental Mutation

Incidental Mutation 'R0356:Srgap1'

29833

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

MMRRC Submission

038562-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R0356 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121616896-121883220 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 121691441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080389 (fasta)

Gene Model

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

AlphaFold

Q91Z69

Predicted Effect

probably null
Transcript: ENSMUST00000020322

SMART Domains

Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121

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 null
Transcript: ENSMUST00000020322

SMART Domains

Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121

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 null
Transcript: ENSMUST00000081688

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121

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

probably null
Transcript: ENSMUST00000081688

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121

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

probably null
Transcript: ENSMUST00000081688

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.6%
10x: 94.4%
20x: 86.1%

Validation Efficiency

100% (47/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,418 (GRCm39)		probably benign	Het
Adgrg6	C	T	10: 14,302,642 (GRCm39)	V924M	possibly damaging	Het
Anxa9	A	G	3: 95,215,387 (GRCm39)		probably benign	Het
Ap3d1	G	T	10: 80,563,812 (GRCm39)	S122R	probably damaging	Het
Arhgap5	T	C	12: 52,563,091 (GRCm39)	S21P	probably damaging	Het
Atp13a5	A	G	16: 29,167,573 (GRCm39)		probably benign	Het
AU040320	A	T	4: 126,731,155 (GRCm39)	D618V	probably damaging	Het
Cbfa2t2	T	A	2: 154,373,269 (GRCm39)	D475E	probably benign	Het
Ccdc202	T	A	14: 96,119,801 (GRCm39)	V186E	possibly damaging	Het
Ccdc62	G	A	5: 124,092,811 (GRCm39)	V599I	probably benign	Het
Cenpj	T	C	14: 56,786,953 (GRCm39)	E917G	probably damaging	Het
Cog5	T	C	12: 31,887,180 (GRCm39)		probably benign	Het
Col9a1	T	A	1: 24,224,328 (GRCm39)	L170*	probably null	Het
Daxx	T	A	17: 34,132,867 (GRCm39)	V627D	probably benign	Het
Dnah9	A	G	11: 66,021,388 (GRCm39)		probably null	Het
Drg2	T	A	11: 60,352,407 (GRCm39)	V203E	probably damaging	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Fer1l4	T	C	2: 155,865,930 (GRCm39)	Y1586C	probably damaging	Het
Gp6	A	T	7: 4,373,141 (GRCm39)		probably benign	Het
Hhip	T	C	8: 80,724,121 (GRCm39)	I374V	probably benign	Het
Hspa12b	G	T	2: 130,986,719 (GRCm39)	V547L	possibly damaging	Het
Iars1	G	A	13: 49,856,709 (GRCm39)	V321I	probably benign	Het
Itga8	T	C	2: 12,187,532 (GRCm39)	M716V	possibly damaging	Het
Lcn5	T	C	2: 25,550,705 (GRCm39)	I131T	probably damaging	Het
Mki67	G	A	7: 135,306,135 (GRCm39)	T614M	probably benign	Het
Mmp3	G	A	9: 7,451,768 (GRCm39)	E369K	probably benign	Het
Myt1l	A	G	12: 29,861,500 (GRCm39)	D94G	unknown	Het
Neil1	T	C	9: 57,054,180 (GRCm39)	I47V	possibly damaging	Het
Nr5a2	T	C	1: 136,773,430 (GRCm39)	N424S	possibly damaging	Het
Or1e21	A	T	11: 73,344,906 (GRCm39)	I44N	possibly damaging	Het
Or51f5	A	T	7: 102,424,286 (GRCm39)	D185V	probably damaging	Het
Or5b120	A	G	19: 13,480,441 (GRCm39)	T245A	possibly damaging	Het
Or7e166	G	T	9: 19,624,743 (GRCm39)	G207C	probably damaging	Het
Pakap	C	A	4: 57,855,628 (GRCm39)	T360K	possibly damaging	Het
Pde8b	G	T	13: 95,182,962 (GRCm39)	N265K	probably damaging	Het
Prpf40b	T	C	15: 99,203,080 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,375,107 (GRCm39)	D718G	possibly damaging	Het
Sirpb1c	T	C	3: 15,887,309 (GRCm39)	N175D	possibly damaging	Het
Tgm5	T	A	2: 120,884,055 (GRCm39)	T313S	probably damaging	Het
Tigar	A	G	6: 127,068,145 (GRCm39)		probably null	Het
Tmprss11b	A	G	5: 86,808,326 (GRCm39)	*417Q	probably null	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Ttll11	T	C	2: 35,792,688 (GRCm39)	D385G	possibly damaging	Het
Zfp426	T	C	9: 20,382,541 (GRCm39)	T135A	probably benign	Het

Other mutations in Srgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01964:Srgap1	APN	10	121,640,871 (GRCm39)	missense	possibly damaging	0.81
IGL02106:Srgap1	APN	10	121,621,598 (GRCm39)	missense	possibly damaging	0.95
IGL02927:Srgap1	APN	10	121,691,367 (GRCm39)	missense	probably damaging	0.99
IGL03088:Srgap1	APN	10	121,661,598 (GRCm39)	missense	possibly damaging	0.94
IGL03208:Srgap1	APN	10	121,628,171 (GRCm39)	missense	possibly damaging	0.89
IGL03251:Srgap1	APN	10	121,640,826 (GRCm39)	splice site	probably null
PIT1430001:Srgap1	UTSW	10	121,732,658 (GRCm39)	splice site	probably benign
R0052:Srgap1	UTSW	10	121,636,732 (GRCm39)	missense	possibly damaging	0.94
R0052:Srgap1	UTSW	10	121,636,732 (GRCm39)	missense	possibly damaging	0.94
R0361:Srgap1	UTSW	10	121,883,097 (GRCm39)	start codon destroyed	probably null	0.89
R0365:Srgap1	UTSW	10	121,621,610 (GRCm39)	missense	possibly damaging	0.80
R0675:Srgap1	UTSW	10	121,628,140 (GRCm39)	missense	probably damaging	1.00
R0801:Srgap1	UTSW	10	121,643,780 (GRCm39)	missense	probably damaging	0.96
R0815:Srgap1	UTSW	10	121,621,379 (GRCm39)	missense	probably damaging	0.99
R1034:Srgap1	UTSW	10	121,621,350 (GRCm39)	missense	possibly damaging	0.69
R1160:Srgap1	UTSW	10	121,691,382 (GRCm39)	missense	probably benign	0.01
R1454:Srgap1	UTSW	10	121,732,643 (GRCm39)	missense	probably damaging	0.99
R1624:Srgap1	UTSW	10	121,691,278 (GRCm39)	missense	probably benign	0.03
R1628:Srgap1	UTSW	10	121,706,244 (GRCm39)	missense	probably benign	0.15
R1816:Srgap1	UTSW	10	121,761,876 (GRCm39)	nonsense	probably null
R1933:Srgap1	UTSW	10	121,761,808 (GRCm39)	missense	possibly damaging	0.89
R2034:Srgap1	UTSW	10	121,628,651 (GRCm39)	missense	probably damaging	0.98
R2211:Srgap1	UTSW	10	121,689,645 (GRCm39)	missense	possibly damaging	0.55
R2295:Srgap1	UTSW	10	121,630,665 (GRCm39)	missense	probably benign	0.03
R2368:Srgap1	UTSW	10	121,665,194 (GRCm39)	missense	probably benign	0.05
R3796:Srgap1	UTSW	10	121,883,037 (GRCm39)	missense	probably benign	0.06
R4083:Srgap1	UTSW	10	121,621,595 (GRCm39)	missense	probably damaging	1.00
R4172:Srgap1	UTSW	10	121,691,268 (GRCm39)	missense	probably benign	0.00
R4322:Srgap1	UTSW	10	121,705,711 (GRCm39)	missense	probably damaging	1.00
R4401:Srgap1	UTSW	10	121,640,826 (GRCm39)	splice site	probably null
R4513:Srgap1	UTSW	10	121,706,231 (GRCm39)	critical splice donor site	probably null
R4698:Srgap1	UTSW	10	121,628,392 (GRCm39)	missense	probably benign	0.22
R4776:Srgap1	UTSW	10	121,628,256 (GRCm39)	missense	probably benign	0.03
R4951:Srgap1	UTSW	10	121,621,457 (GRCm39)	missense	probably benign	0.20
R5116:Srgap1	UTSW	10	121,628,284 (GRCm39)	missense	possibly damaging	0.77
R5232:Srgap1	UTSW	10	121,676,816 (GRCm39)	missense	probably benign	0.00
R5237:Srgap1	UTSW	10	121,643,788 (GRCm39)	missense	probably damaging	1.00
R5335:Srgap1	UTSW	10	121,621,282 (GRCm39)	utr 3 prime	probably benign
R5402:Srgap1	UTSW	10	121,621,665 (GRCm39)	missense	probably benign	0.06
R5432:Srgap1	UTSW	10	121,705,728 (GRCm39)	missense	probably damaging	1.00
R5456:Srgap1	UTSW	10	121,705,716 (GRCm39)	missense	probably benign	0.45
R5669:Srgap1	UTSW	10	121,640,755 (GRCm39)	missense	probably benign	0.00
R5682:Srgap1	UTSW	10	121,640,919 (GRCm39)	missense	probably damaging	1.00
R5687:Srgap1	UTSW	10	121,661,541 (GRCm39)	missense	probably damaging	1.00
R5773:Srgap1	UTSW	10	121,732,614 (GRCm39)	missense	probably benign	0.02
R5832:Srgap1	UTSW	10	121,676,819 (GRCm39)	missense	probably damaging	1.00
R6028:Srgap1	UTSW	10	121,664,635 (GRCm39)	missense	probably null
R6240:Srgap1	UTSW	10	121,883,061 (GRCm39)	missense	probably benign	0.06
R6336:Srgap1	UTSW	10	121,761,846 (GRCm39)	missense	probably benign	0.01
R6435:Srgap1	UTSW	10	121,636,732 (GRCm39)	missense	possibly damaging	0.94
R6597:Srgap1	UTSW	10	121,628,276 (GRCm39)	missense	probably benign	0.11
R6798:Srgap1	UTSW	10	121,761,809 (GRCm39)	missense	probably damaging	1.00
R6807:Srgap1	UTSW	10	121,664,631 (GRCm39)	splice site	probably null
R6897:Srgap1	UTSW	10	121,621,523 (GRCm39)	missense	probably damaging	0.96
R7057:Srgap1	UTSW	10	121,640,858 (GRCm39)	missense	probably benign	0.20
R7196:Srgap1	UTSW	10	121,676,753 (GRCm39)	missense	probably benign	0.00
R7247:Srgap1	UTSW	10	121,705,695 (GRCm39)	missense	probably damaging	0.98
R7404:Srgap1	UTSW	10	121,621,650 (GRCm39)	missense	probably benign	0.18
R7467:Srgap1	UTSW	10	121,691,344 (GRCm39)	nonsense	probably null
R7792:Srgap1	UTSW	10	121,761,872 (GRCm39)	missense	probably damaging	0.98
R7846:Srgap1	UTSW	10	121,621,397 (GRCm39)	missense	probably damaging	0.97
R7896:Srgap1	UTSW	10	121,689,458 (GRCm39)	critical splice donor site	probably benign
R7912:Srgap1	UTSW	10	121,689,458 (GRCm39)	critical splice donor site	probably benign
R8127:Srgap1	UTSW	10	121,691,271 (GRCm39)	missense	probably null	0.04
R8233:Srgap1	UTSW	10	121,661,341 (GRCm39)	missense	probably damaging	1.00
R8248:Srgap1	UTSW	10	121,640,722 (GRCm39)	missense	probably damaging	0.99
R8362:Srgap1	UTSW	10	121,691,383 (GRCm39)	missense	possibly damaging	0.46
R8885:Srgap1	UTSW	10	121,761,545 (GRCm39)	intron	probably benign
R9074:Srgap1	UTSW	10	121,628,257 (GRCm39)	missense	probably damaging	0.99
R9134:Srgap1	UTSW	10	121,883,127 (GRCm39)	start gained	probably benign
R9338:Srgap1	UTSW	10	121,689,458 (GRCm39)	critical splice donor site	probably benign
R9437:Srgap1	UTSW	10	121,636,777 (GRCm39)	missense	probably benign	0.18
R9629:Srgap1	UTSW	10	121,705,746 (GRCm39)	missense	probably benign	0.06
R9747:Srgap1	UTSW	10	121,761,771 (GRCm39)	missense	probably damaging	1.00
R9747:Srgap1	UTSW	10	121,628,579 (GRCm39)	missense	probably benign
X0063:Srgap1	UTSW	10	121,621,317 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

Posted On

2013-04-24