Mutagenetix > Incidental Mutation

Incidental Mutation 'R1160:Srgap1'

100341

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

MMRRC Submission

039233-MU

Accession Numbers

Essential gene?

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

Stock #

R1160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121616896-121883220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121691382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 284 (Y284F)

Ref Sequence

ENSEMBL: ENSMUSP00000080389 (fasta)

Gene Model

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

AlphaFold

Q91Z69

Predicted Effect

probably benign
Transcript: ENSMUST00000020322
AA Change: Y284F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: Y284F

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: Y284F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: Y284F

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

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	G	T	1: 89,770,876 (GRCm39)	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,115,917 (GRCm39)		probably null	Het
Arl5b	T	C	2: 15,074,648 (GRCm39)	V43A	probably benign	Het
Astn1	T	C	1: 158,427,935 (GRCm39)	V702A	possibly damaging	Het
Bach1	T	C	16: 87,512,322 (GRCm39)	V15A	probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,377,218 (GRCm39)	V774M	probably benign	Het
Dcaf5	T	C	12: 80,386,989 (GRCm39)	D379G	possibly damaging	Het
Dcpp1	T	A	17: 24,100,405 (GRCm39)	I45K	possibly damaging	Het
Ddx17	T	A	15: 79,425,288 (GRCm39)	S128C	probably damaging	Het
Eml3	A	G	19: 8,910,614 (GRCm39)	N192S	probably benign	Het
Epha3	T	G	16: 63,593,431 (GRCm39)	D219A	probably damaging	Het
Fhod3	C	T	18: 25,118,293 (GRCm39)	A210V	probably damaging	Het
Khdc4	C	A	3: 88,616,169 (GRCm39)	P452Q	probably damaging	Het
Klhl5	A	G	5: 65,298,683 (GRCm39)	N154S	probably benign	Het
Lrif1	A	G	3: 106,640,033 (GRCm39)	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,271,864 (GRCm39)	N664S	probably benign	Het
Or52z15	A	G	7: 103,332,068 (GRCm39)	N38D	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pglyrp4	T	A	3: 90,636,138 (GRCm39)		probably null	Het
Pole	A	G	5: 110,443,119 (GRCm39)	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,274,868 (GRCm39)	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,855,547 (GRCm39)	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,088,505 (GRCm39)	F237S	probably damaging	Het
Sccpdh	T	G	1: 179,511,775 (GRCm39)	D82E	probably benign	Het
Slc19a3	A	C	1: 83,000,413 (GRCm39)	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,013,995 (GRCm39)	A401T	possibly damaging	Het
Snupn	T	G	9: 56,864,389 (GRCm39)	C29W	probably benign	Het
Sorbs2	A	G	8: 46,223,613 (GRCm39)	Y222C	probably damaging	Het
Sox17	A	T	1: 4,562,075 (GRCm39)	V310E	probably damaging	Het
Srpk1	C	A	17: 28,818,748 (GRCm39)	V363F	probably benign	Het
Syt13	T	A	2: 92,773,387 (GRCm39)		probably null	Het
Taf2	A	G	15: 54,934,793 (GRCm39)	V45A	probably benign	Het
Tal1	A	T	4: 114,925,813 (GRCm39)	D294V	probably damaging	Het
Tbl2	A	G	5: 135,188,246 (GRCm39)	T347A	probably benign	Het
Tet3	A	G	6: 83,381,434 (GRCm39)	S110P	probably benign	Het
Tmem132a	A	G	19: 10,835,938 (GRCm39)	V864A	probably damaging	Het
Trak1	T	C	9: 121,221,073 (GRCm39)	I80T	probably benign	Het
Trappc6b	G	A	12: 59,097,064 (GRCm39)	T86I	probably damaging	Het
Usf3	T	A	16: 44,038,910 (GRCm39)	I1130N	probably damaging	Het
Xirp2	T	C	2: 67,340,231 (GRCm39)	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,189,828 (GRCm39)	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,936 (GRCm39)	V685E	probably damaging	Het
Zp2	A	T	7: 119,735,268 (GRCm39)	D368E	probably 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
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

2014-01-15