Mutagenetix > Incidental Mutations

Incidental Mutation 'R7223:Arhgap30'

561914

Institutional Source

Beutler Lab

Gene Symbol

Arhgap30

Ensembl Gene

ENSMUSG00000048865

Gene Name

Rho GTPase activating protein 30

Synonyms

6030405P05Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001005508.2; MGI: 2684948

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

171388954-171410298 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171407571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 535 (F535S)

Ref Sequence

ENSEMBL: ENSMUSP00000059389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001284] [ENSMUST00000056449] [ENSMUST00000159207] [ENSMUST00000160486] [ENSMUST00000161241] [ENSMUST00000167546]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001284

Predicted Effect

probably damaging
Transcript: ENSMUST00000056449
AA Change: F535S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: F535S

Domain	Start	End	E-Value	Type
low complexity region	6	14	N/A	INTRINSIC
RhoGAP	31	212	1.4e-61	SMART
Blast:RhoGAP	225	285	2e-24	BLAST
low complexity region	348	366	N/A	INTRINSIC
low complexity region	367	378	N/A	INTRINSIC
low complexity region	452	463	N/A	INTRINSIC
low complexity region	498	510	N/A	INTRINSIC
low complexity region	514	534	N/A	INTRINSIC
low complexity region	667	690	N/A	INTRINSIC
low complexity region	736	752	N/A	INTRINSIC
low complexity region	924	940	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159207

SMART Domains

Protein: ENSMUSP00000124000
Gene: ENSMUSG00000026641

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160486

SMART Domains

Protein: ENSMUSP00000125363
Gene: ENSMUSG00000026641

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC
HLH	205	260	5.01e-15	SMART
low complexity region	265	281	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161241

SMART Domains

Protein: ENSMUSP00000125729
Gene: ENSMUSG00000026641

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC
HLH	205	260	5.01e-15	SMART
low complexity region	265	281	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167546

SMART Domains

Protein: ENSMUSP00000128913
Gene: ENSMUSG00000026641

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC
HLH	205	260	5.01e-15	SMART
low complexity region	265	281	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

All alleles(4) : Targeted(2) Gene trapped(2)

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,274,143	V733E	probably benign	Het
Adam34	A	T	8: 43,652,004	N201K	probably benign	Het
Aldh3b2	A	C	19: 3,979,592	S322R	probably damaging	Het
Anpep	A	T	7: 79,825,310	L914Q	probably damaging	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Baz2a	G	T	10: 128,112,606	G252V	probably damaging	Het
Brinp3	T	A	1: 146,901,074	S420T	possibly damaging	Het
Carmil3	T	C	14: 55,496,238	F359S	possibly damaging	Het
Ccdc124	A	T	8: 70,868,526	L190Q	probably damaging	Het
Ccr6	T	C	17: 8,256,140	V59A	probably damaging	Het
Ccr8	T	A	9: 120,094,617	I266N	probably damaging	Het
Cdh23	T	A	10: 60,331,817	E1798V	probably damaging	Het
Cdk5rap2	T	C	4: 70,235,447	N1713S	probably benign	Het
Cep19	T	A	16: 32,104,015	I33N	probably damaging	Het
Cers3	A	T	7: 66,783,415	Y196F	probably damaging	Het
Cidea	T	C	18: 67,366,421	I126T	probably damaging	Het
Copg2	A	T	6: 30,812,754	Y546*	probably null	Het
Cul3	A	T	1: 80,287,000	V261E	probably benign	Het
Cyp2g1	A	T	7: 26,814,632	D221V	probably damaging	Het
Cyp8b1	G	A	9: 121,915,097	H390Y	probably damaging	Het
Daam1	T	C	12: 71,988,943	F971L	probably damaging	Het
Dnajc24	G	A	2: 106,001,966	S24L	possibly damaging	Het
Dpysl3	T	C	18: 43,438,042	S56G	probably benign	Het
Esp1	A	G	17: 40,731,081	D88G	probably benign	Het
Fam171b	A	G	2: 83,878,230	T359A	probably damaging	Het
Fam186b	T	C	15: 99,279,837	E536G	possibly damaging	Het
Fbxo3	T	C	2: 104,043,012	V156A	possibly damaging	Het
Gls2	C	A	10: 128,199,194	H65Q	probably benign	Het
Gp2	A	G	7: 119,451,498		probably null	Het
Gpcpd1	T	A	2: 132,534,056	K435I	probably benign	Het
Gpx6	T	A	13: 21,317,670		probably null	Het
Hps3	A	T	3: 20,030,419	S202T	probably benign	Het
Htr1d	T	A	4: 136,443,501	L347H	probably damaging	Het
Igfals	T	C	17: 24,881,234	L433P	probably damaging	Het
Ilvbl	C	T	10: 78,583,696	H537Y	probably benign	Het
Iqgap2	A	T	13: 95,628,972	M1530K	probably damaging	Het
Jarid2	A	G	13: 44,896,322	T247A	possibly damaging	Het
L3hypdh	C	T	12: 72,074,009	V323I	possibly damaging	Het
Lama3	C	T	18: 12,582,608	T1707I	possibly damaging	Het
Map6	G	T	7: 99,268,025	A2S	probably damaging	Het
Mfap3	T	A	11: 57,530,240	I349K	probably benign	Het
Mybl2	A	G	2: 163,072,705	T248A	probably benign	Het
N6amt1	A	G	16: 87,362,660	*151W	probably null	Het
Nhlrc1	A	G	13: 47,014,208	V191A	probably benign	Het
Nkx2-5	T	C	17: 26,839,620	E120G	possibly damaging	Het
Olfr1066	T	A	2: 86,455,867	I135F	possibly damaging	Het
Olfr1380	T	A	11: 49,564,098	M59K	probably damaging	Het
Olfr582	C	A	7: 103,041,632	T46N	possibly damaging	Het
Olfr890	T	C	9: 38,143,753	V201A	probably benign	Het
Pcdha8	T	G	18: 36,993,148	L228V	probably benign	Het
Pcsk2	A	G	2: 143,690,333	T134A	possibly damaging	Het
Phldb3	G	A	7: 24,624,653	R484Q	probably benign	Het
Pipox	A	G	11: 77,881,186	S371P	probably damaging	Het
Plekhg1	T	C	10: 3,873,343	S159P		Het
Psme4	C	T	11: 30,874,226	P1737S	probably benign	Het
Pygm	G	A	19: 6,388,863	D328N	probably benign	Het
Rabgef1	A	T	5: 130,190,960	E88V	probably benign	Het
Rims2	G	T	15: 39,437,032	R245L	probably benign	Het
Slc38a4	T	C	15: 97,010,345	I172V	probably damaging	Het
Slc4a10	T	A	2: 62,268,665	Y586N	probably damaging	Het
Snap91	C	T	9: 86,879,557		probably benign	Het
Sorcs1	C	T	19: 50,190,042	V881I	probably benign	Het
Spef2	A	T	15: 9,601,640	V1512E	unknown	Het
Sufu	T	C	19: 46,453,277	I292T	possibly damaging	Het
Tet1	T	C	10: 62,813,671	N87D	possibly damaging	Het
Tmem108	T	C	9: 103,499,534	T239A	not run	Het
Tmem121	A	T	12: 113,188,494	K111*	probably null	Het
Tpp2	T	A	1: 43,968,888	D417E	probably damaging	Het
Tpr	G	A	1: 150,439,256	E2025K	possibly damaging	Het
Trappc3	C	T	4: 126,275,152	A145V	possibly damaging	Het
Ttn	T	C	2: 76,890,981	D6754G	probably null	Het
Unc13c	T	A	9: 73,629,191	M1627L	probably benign	Het
Ush2a	A	G	1: 188,810,217	I3327V	probably benign	Het
Vmn1r74	C	T	7: 11,846,967	Q65*	probably null	Het
Wdr18	G	A	10: 79,960,368	R69H	probably damaging	Het
Zbed5	G	T	5: 129,900,438	D132Y	probably damaging	Het
Zfp644	A	T	5: 106,637,582	Y366*	probably null	Het
Zfyve26	T	C	12: 79,246,171	N2068S	probably damaging	Het
Zic2	T	C	14: 122,476,091	F139S	probably damaging	Het
Zmynd11	T	C	13: 9,710,162	Q141R	probably benign	Het
Zrsr1	A	G	11: 22,973,388	E54G	probably benign	Het
Zscan10	G	A	17: 23,609,482	D333N	probably benign	Het

Other mutations in Arhgap30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Arhgap30	APN	1	171397570	missense	probably damaging	1.00
IGL02016:Arhgap30	APN	1	171407747	missense	probably damaging	1.00
IGL02552:Arhgap30	APN	1	171407756	missense	probably damaging	1.00
IGL03343:Arhgap30	APN	1	171409094	missense	probably damaging	1.00
consonance	UTSW	1	171404139	critical splice donor site	probably null
deliverance	UTSW	1	171397518	nonsense	probably null
redemption	UTSW	1	171402254	missense	probably damaging	1.00
tercero	UTSW	1	171408341	missense	probably benign
FR4304:Arhgap30	UTSW	1	171405168	small insertion	probably benign
P0017:Arhgap30	UTSW	1	171408704	missense	probably benign	0.02
R0045:Arhgap30	UTSW	1	171408430	missense	probably benign
R0045:Arhgap30	UTSW	1	171408430	missense	probably benign
R0115:Arhgap30	UTSW	1	171407948	missense	possibly damaging	0.92
R0320:Arhgap30	UTSW	1	171403804	missense	possibly damaging	0.81
R0399:Arhgap30	UTSW	1	171404816	missense	probably damaging	0.97
R0945:Arhgap30	UTSW	1	171403286	missense	probably damaging	1.00
R1484:Arhgap30	UTSW	1	171403271	missense	probably damaging	1.00
R1595:Arhgap30	UTSW	1	171408341	missense	probably benign
R2173:Arhgap30	UTSW	1	171407767	missense	probably damaging	1.00
R2281:Arhgap30	UTSW	1	171389328	missense	probably damaging	1.00
R2864:Arhgap30	UTSW	1	171408206	missense	probably damaging	1.00
R4066:Arhgap30	UTSW	1	171408323	missense	probably benign
R4888:Arhgap30	UTSW	1	171409312	missense	probably benign
R4937:Arhgap30	UTSW	1	171403329	missense	probably benign	0.03
R4944:Arhgap30	UTSW	1	171402254	missense	probably damaging	1.00
R5170:Arhgap30	UTSW	1	171408050	missense	probably benign	0.00
R5218:Arhgap30	UTSW	1	171408760	missense	probably benign
R5385:Arhgap30	UTSW	1	171408280	missense	probably benign
R5541:Arhgap30	UTSW	1	171404139	critical splice donor site	probably null
R6028:Arhgap30	UTSW	1	171408320	missense	probably benign
R6747:Arhgap30	UTSW	1	171407729	missense	probably damaging	1.00
R6748:Arhgap30	UTSW	1	171404810	missense	possibly damaging	0.50
R6869:Arhgap30	UTSW	1	171409055	missense	probably damaging	1.00
R8113:Arhgap30	UTSW	1	171397518	nonsense	probably null
R8543:Arhgap30	UTSW	1	171404962	missense	probably damaging	1.00
R8545:Arhgap30	UTSW	1	171407430	missense	probably damaging	1.00
R8682:Arhgap30	UTSW	1	171407402	missense	probably benign	0.00
R8693:Arhgap30	UTSW	1	171397526	missense	probably damaging	1.00
R9026:Arhgap30	UTSW	1	171400690	missense	probably damaging	1.00
R9245:Arhgap30	UTSW	1	171408389	missense	possibly damaging	0.90
X0020:Arhgap30	UTSW	1	171405085	missense	possibly damaging	0.53
Z1177:Arhgap30	UTSW	1	171407908	missense	probably benign	0.01
Z1189:Arhgap30	UTSW	1	171408370	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGAGGCAAGATCAGTCCCAG -3'
(R):5'- TCCAGAGACAGGTCATCCAG -3'

Sequencing Primer
(F):5'- TCCCCTGGATGACTCGAG -3'
(R):5'- GTGGCTCCACAGAGAACTCTTC -3'

Posted On

2019-06-26