Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Arhgap30'

530562

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 #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171388954-171410298 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171407729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 557 (V557A)

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: V557A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: V557A

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

noncoding transcript
Transcript: ENSMUST00000131607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135312

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

noncoding transcript
Transcript: ENSMUST00000159466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160335

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

noncoding transcript
Transcript: ENSMUST00000161297

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

Meta Mutation Damage Score

0.0795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

Allele List at MGI

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

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 122,126,313		probably null	Het
Acyp1	C	T	12: 85,278,905	V107I	probably null	Het
Aftph	T	C	11: 20,726,144		probably null	Het
Agtpbp1	A	T	13: 59,544,353		probably null	Het
Arhgap15	C	A	2: 44,116,677	P269T	probably damaging	Het
Asb3	T	A	11: 31,081,493	M410K	probably benign	Het
B4galnt2	T	C	11: 95,868,634		probably null	Het
Birc3	A	G	9: 7,860,261		probably null	Het
Cav2	A	T	6: 17,286,951	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,795,667	C826Y	probably benign	Het
Cenpf	T	A	1: 189,652,854	T2410S	probably benign	Het
Chchd1	A	G	14: 20,703,380	D24G	probably benign	Het
Cmip	G	A	8: 117,436,879	G450S	probably benign	Het
Col11a1	C	T	3: 114,212,450	Q534*	probably null	Het
Col3a1	G	T	1: 45,338,622		probably benign	Het
Cox4i1	T	C	8: 120,673,230	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,646,767	V168F	probably damaging	Het
Dapk1	T	C	13: 60,725,340	I352T	probably benign	Het
Ddx52	T	C	11: 83,955,302	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,416,088	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,636,062	T369A	probably benign	Het
Dppa1	T	A	11: 46,625,595	I8F	unknown	Het
Ebf1	G	T	11: 44,883,814	V213F	probably damaging	Het
Foxb2	C	A	19: 16,872,833	E270*	probably null	Het
Gclc	A	T	9: 77,788,245	R450W	probably damaging	Het
Gm13128	T	C	4: 144,332,978	W420R	probably benign	Het
Grin2d	T	C	7: 45,862,268	E251G	probably damaging	Het
Hal	A	T	10: 93,500,677	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,780,091	I185F	unknown	Het
Lrp3	T	A	7: 35,211,437	Q61L	probably benign	Het
Met	A	C	6: 17,571,467	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,297,699	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,782,981	W16C	probably benign	Het
Myh13	G	A	11: 67,350,419	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,203,381	T453I	probably benign	Het
Nos2	A	G	11: 78,952,954	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,882,344	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,591,724	D149G	probably benign	Het
Olfr203	T	C	16: 59,303,641	F164L	probably benign	Het
Olfr690	C	T	7: 105,330,027	R55H	probably benign	Het
Pcbp4	C	A	9: 106,460,648		probably null	Het
Peg10	A	G	6: 4,757,137		probably benign	Het
Pms2	C	T	5: 143,925,419	P154L	probably benign	Het
Pou6f2	A	C	13: 18,129,187	L112R	probably benign	Het
Prdm6	A	T	18: 53,465,046		probably benign	Het
Prob1	G	A	18: 35,655,154	R12W	probably damaging	Het
Rif1	T	A	2: 52,078,263		probably null	Het
Rpl9-ps6	A	G	19: 32,466,143	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Homo
Sec23ip	A	G	7: 128,752,849		silent	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Slc39a8	T	C	3: 135,849,180		probably null	Het
Slc6a18	C	A	13: 73,677,991		probably benign	Het
Snw1	T	C	12: 87,464,710	D57G	probably damaging	Het
Sox6	C	G	7: 115,541,731	R505P	probably damaging	Het
Speg	T	C	1: 75,410,395		probably null	Het
Spire2	C	T	8: 123,356,846	R190C	probably damaging	Het
Stard9	A	C	2: 120,698,383	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,343,243	T237K	probably damaging	Het
Themis2	T	A	4: 132,796,262	E31V	possibly damaging	Het
Trim56	T	G	5: 137,114,521	Q47P	probably damaging	Het
Trim58	T	C	11: 58,651,264	I350T	probably benign	Het
Ttll7	C	T	3: 146,944,056	P639S	probably benign	Het
Ubxn6	A	G	17: 56,070,650		probably null	Het
Vmn2r114	A	T	17: 23,309,876	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,231,422	M822L	probably benign	Het
Vps9d1	T	C	8: 123,254,007	D27G	probably damaging	Het
Wdr3	C	T	3: 100,138,724	R931Q	probably damaging	Het
Whamm	G	A	7: 81,578,302		probably null	Het
Zcchc24	T	C	14: 25,757,033	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894	K2050R	probably damaging	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
R6748:Arhgap30	UTSW	1	171404810	missense	possibly damaging	0.50
R6869:Arhgap30	UTSW	1	171409055	missense	probably damaging	1.00
R7223:Arhgap30	UTSW	1	171407571	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
R9515:Arhgap30	UTSW	1	171408434	missense	probably benign	0.38
R9524:Arhgap30	UTSW	1	171397546	missense	probably damaging	0.99
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'- AGAGGATTTGAGCAGCTCAG -3'
(R):5'- AGGGGACTCAGATCATCATAGG -3'

Sequencing Primer
(F):5'- ATTTGAGCAGCTCAGAGCCTG -3'
(R):5'- GGGACTCAGATCATCATAGGCACTC -3'

Posted On

2018-08-01