Mutagenetix > Incidental Mutation

Incidental Mutation 'R2368:Srgap1'

246404

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R2368 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121616896-121883220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121665194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 493 (S493T)

Ref Sequence

ENSEMBL: ENSMUSP00000080389 (fasta)

Gene Model

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

AlphaFold

Q91Z69

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000081688
AA Change: S493T

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: S493T

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: ENSMUST00000218664

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,247,893 (GRCm39)	K102E	possibly damaging	Het
Bsn	G	A	9: 107,988,229 (GRCm39)	Q2508*	probably null	Het
Cc2d2a	A	G	5: 43,861,230 (GRCm39)	T549A	probably benign	Het
Lyst	A	T	13: 13,871,248 (GRCm39)	S2662C	probably damaging	Het
Nek9	A	G	12: 85,376,661 (GRCm39)	V240A	possibly damaging	Het
Nol4l	T	C	2: 153,259,959 (GRCm39)	D165G	probably damaging	Het
Or10ak12	A	G	4: 118,667,019 (GRCm39)	V14A	probably benign	Het
Or14j5	A	T	17: 38,161,509 (GRCm39)	M9L	probably benign	Het
Or5p69	A	G	7: 107,967,576 (GRCm39)	Y293C	probably damaging	Het
Or8h8	A	T	2: 86,753,451 (GRCm39)	Y142N	probably benign	Het
Plin5	T	C	17: 56,422,588 (GRCm39)	E116G	probably damaging	Het
Slc35d2	C	T	13: 64,277,119 (GRCm39)	M1I	probably null	Het
Syt9	T	A	7: 107,035,906 (GRCm39)	Y308N	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn2r74	C	T	7: 85,610,522 (GRCm39)	D57N	probably benign	Het
Vstm5	A	T	9: 15,169,027 (GRCm39)	M166L	probably benign	Het
Zbtb12	T	C	17: 35,114,674 (GRCm39)	L153P	possibly damaging	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
R0356:Srgap1	UTSW	10	121,691,441 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- TCTGGGGAATTGAAGAGCCC -3'
(R):5'- ACAACTCCTATGCTCTTGATGTAC -3'

Sequencing Primer
(F):5'- TTGAAGAGCCCCAGGACATAATGAC -3'
(R):5'- TGCTCTTGATGTACAAATAAAAGAGG -3'

Posted On

2014-10-30