Mutagenetix > Incidental Mutation

Incidental Mutation 'R4513:Srgap1'

334522

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

MMRRC Submission

041759-MU

Accession Numbers

Essential gene?

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

Stock #

R4513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121616896-121883220 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 121706231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080389 (fasta)

Gene Model

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

0.9486

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

100% (56/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	A	G	17: 57,717,947 (GRCm39)	I320V	probably benign	Het
Akap6	T	C	12: 52,842,787 (GRCm39)	V45A	probably benign	Het
Ankrd28	A	T	14: 31,465,242 (GRCm39)	S312T	probably damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Cfap96	G	T	8: 46,421,175 (GRCm39)	T116K	probably damaging	Het
Cntn3	A	T	6: 102,145,943 (GRCm39)	I966N	probably benign	Het
D630003M21Rik	T	C	2: 158,046,722 (GRCm39)	T752A	probably benign	Het
Dmxl2	A	C	9: 54,327,168 (GRCm39)	S952R	probably null	Het
Dop1a	G	A	9: 86,402,612 (GRCm39)	E1271K	probably benign	Het
Fgfr3	A	G	5: 33,880,460 (GRCm39)		probably benign	Het
Gm10110	A	G	14: 90,135,151 (GRCm39)		noncoding transcript	Het
Got1l1	C	T	8: 27,688,513 (GRCm39)	M279I	probably benign	Het
Guf1	T	C	5: 69,719,005 (GRCm39)	V230A	probably benign	Het
Hsd17b14	C	T	7: 45,212,339 (GRCm39)	L124F	probably benign	Het
Id3	G	T	4: 135,871,669 (GRCm39)		probably benign	Het
Itga8	T	C	2: 12,187,547 (GRCm39)	S711G	probably benign	Het
Lgr4	T	C	2: 109,842,361 (GRCm39)	M782T	possibly damaging	Het
Lsm12	T	C	11: 102,057,909 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,580,741 (GRCm39)	D117V	probably damaging	Het
Map3k11	A	G	19: 5,752,238 (GRCm39)	T807A	probably damaging	Het
Mapk14	T	C	17: 28,943,798 (GRCm39)	F129S	probably damaging	Het
Mapkbp1	T	A	2: 119,854,174 (GRCm39)	I1257N	possibly damaging	Het
Mcm3	A	G	1: 20,880,456 (GRCm39)	Y459H	probably damaging	Het
Mkln1	T	C	6: 31,410,093 (GRCm39)		probably benign	Het
Msh5	A	T	17: 35,249,664 (GRCm39)	I627N	possibly damaging	Het
Nfkbiz	T	C	16: 55,637,204 (GRCm39)	H488R	probably benign	Het
Nrg1	G	T	8: 32,967,105 (GRCm39)		probably benign	Het
Or1j19	A	G	2: 36,676,782 (GRCm39)	M82V	probably benign	Het
Or51q1	T	C	7: 103,628,648 (GRCm39)	V89A	probably benign	Het
Or51t4	T	C	7: 102,597,945 (GRCm39)	L81P	probably damaging	Het
Or5b120	A	T	19: 13,479,986 (GRCm39)	Y93F	probably benign	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Plekhg4	T	A	8: 106,107,034 (GRCm39)	C910S	probably damaging	Het
Ppp1r18	A	G	17: 36,179,196 (GRCm39)	E357G	probably damaging	Het
Pramel23	T	C	4: 143,424,718 (GRCm39)	M242V	probably benign	Het
Rbm11	T	C	16: 75,393,475 (GRCm39)	F57S	probably damaging	Het
Sbp	G	A	17: 24,164,286 (GRCm39)	G183D	probably benign	Het
Skint5	A	G	4: 113,599,382 (GRCm39)	V719A	unknown	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Slc29a1	A	C	17: 45,899,992 (GRCm39)	Y232*	probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Spanxn4	A	T	12: 62,734,886 (GRCm39)		noncoding transcript	Het
Spata31d1d	T	C	13: 59,876,368 (GRCm39)	Q389R	probably benign	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Tle2	A	G	10: 81,423,394 (GRCm39)	D491G	probably damaging	Het
Tmem33	T	C	5: 67,443,468 (GRCm39)	V215A	probably benign	Het
Trav6-3	A	G	14: 53,667,548 (GRCm39)	T7A	probably benign	Het
Ube2q2	C	A	9: 55,057,084 (GRCm39)	P56T	probably benign	Het
Unc79	T	C	12: 102,988,019 (GRCm39)	V208A	probably damaging	Het
Xkr7	T	C	2: 152,896,553 (GRCm39)	I469T	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
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
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
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'- GCACTGAATACTTGGCACTCAC -3'
(R):5'- CAGGTGATGAAAACCTACCACATG -3'

Sequencing Primer
(F):5'- ACGATGTCCAGCTGTTATGAC -3'
(R):5'- TGTACCACTCAGAGAGCATCAGTG -3'

Posted On

2015-08-18