Mutagenetix > Incidental Mutations

Incidental Mutation 'R4708:Arhgap27'

355436

Institutional Source

Beutler Lab

Gene Symbol

Arhgap27

Ensembl Gene

ENSMUSG00000034255

Gene Name

Rho GTPase activating protein 27

Synonyms

5730442P18Rik, Sh3d20, 2310069I04Rik

MMRRC Submission

042017-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103331497-103363692 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 103333562 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041385] [ENSMUST00000107024]

Predicted Effect

probably benign
Transcript: ENSMUST00000041385

SMART Domains

Protein: ENSMUSP00000039427
Gene: ENSMUSG00000034255

Domain	Start	End	E-Value	Type
WW	48	81	3.49e-8	SMART
WW	101	134	7.44e-3	SMART
WW	216	248	2.32e-4	SMART
PH	279	396	1.08e-9	SMART
Blast:RhoGAP	446	480	2e-10	BLAST
RhoGAP	489	664	1.45e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107024

SMART Domains

Protein: ENSMUSP00000102639
Gene: ENSMUSG00000034255

Domain	Start	End	E-Value	Type
SH3	9	68	1.59e-1	SMART
low complexity region	73	89	N/A	INTRINSIC
WW	247	280	3.49e-8	SMART
WW	300	333	7.44e-3	SMART
WW	415	447	2.32e-4	SMART
PH	478	595	1.08e-9	SMART
Blast:RhoGAP	651	682	1e-6	BLAST
RhoGAP	688	863	1.45e-68	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163250

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,611,885	G2D	probably damaging	Het
4930430F08Rik	T	C	10: 100,578,381	I139V	probably benign	Het
4930505A04Rik	T	C	11: 30,454,717	Y62C	probably damaging	Het
4931408C20Rik	A	T	1: 26,684,440	V553D	possibly damaging	Het
Aadacl4	A	C	4: 144,623,329	K385N	probably benign	Het
Abcb4	A	T	5: 8,915,125	T332S	possibly damaging	Het
Aco2	G	A	15: 81,909,916		probably null	Het
Aplf	G	T	6: 87,663,757	S69Y	probably damaging	Het
B4galnt1	T	A	10: 127,169,815	Y262N	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
BC017158	A	G	7: 128,274,680	V345A	probably benign	Het
Ccdc62	T	G	5: 123,930,862		probably null	Het
Cd109	T	A	9: 78,672,589	I649K	probably benign	Het
Cd209b	T	C	8: 3,924,215	E99G	probably damaging	Het
Cep290	A	G	10: 100,523,264	K952R	probably benign	Het
Ces2a	A	G	8: 104,737,306	H190R	probably benign	Het
Clec14a	A	G	12: 58,267,703	S378P	probably benign	Het
Col27a1	A	G	4: 63,283,913	Q947R	probably benign	Het
Dennd3	A	G	15: 73,523,495	T146A	probably damaging	Het
Dpy19l4	T	A	4: 11,277,970	M486L	probably benign	Het
Dysf	C	A	6: 84,097,715	D499E	probably damaging	Het
Eif4enif1	T	G	11: 3,220,323	H125Q	probably damaging	Het
Fam35a	A	G	14: 34,267,833	V372A	probably benign	Het
Fcgbp	A	T	7: 28,094,961	M1197L	probably benign	Het
Fubp3	C	T	2: 31,608,110	T92I	probably benign	Het
Gm19426	T	C	2: 84,743,459		probably null	Het
Gtf2ird2	A	G	5: 134,216,298	H466R	probably damaging	Het
Hdac5	T	C	11: 102,202,193	S573G	probably damaging	Het
Iars2	A	T	1: 185,289,357	M916K	probably benign	Het
Insr	A	T	8: 3,211,346		probably benign	Het
Itgam	T	C	7: 128,101,537	V493A	probably damaging	Het
Ivl	T	A	3: 92,571,750	K336I	probably damaging	Het
Kcng2	A	G	18: 80,322,852	I95T	probably damaging	Het
Lap3	A	G	5: 45,511,138	R431G	probably damaging	Het
Lrrc66	T	C	5: 73,629,662	H115R	probably benign	Het
Morc3	T	C	16: 93,873,238	V767A	probably benign	Het
Mttp	A	G	3: 138,134,098		probably benign	Het
Myo1c	C	T	11: 75,670,030	R770*	probably null	Het
Nat9	G	A	11: 115,183,443	T133M	probably damaging	Het
Nectin4	T	C	1: 171,385,146	I349T	probably benign	Het
Nlrp4a	A	G	7: 26,464,108	E900G	probably benign	Het
Nlrp9c	A	T	7: 26,384,840	M438K	probably benign	Het
Olfr1384	T	A	11: 49,514,389	Y250*	probably null	Het
Olfr1444	A	T	19: 12,861,897	I41F	probably benign	Het
Olfr551	A	T	7: 102,587,836	D302E	probably benign	Het
Parp6	T	C	9: 59,641,769	I507T	probably damaging	Het
Pde6c	G	A	19: 38,180,893	E804K	possibly damaging	Het
Plscr2	A	G	9: 92,291,014	Y203C	probably damaging	Het
Ptprs	A	G	17: 56,428,067	W216R	probably damaging	Het
Rhof	T	A	5: 123,120,391	T126S	probably benign	Het
Riox2	A	G	16: 59,475,682	I49V	probably benign	Het
Tmc6	A	T	11: 117,768,948	C750S	probably benign	Het
Tmem231	C	A	8: 111,933,786		probably benign	Het
Tmem94	T	A	11: 115,786,295	I131N	possibly damaging	Het
Tmx3	T	C	18: 90,521,039		probably null	Het
Tnfrsf21	C	T	17: 43,038,232	T245I	possibly damaging	Het
Ttbk2	C	A	2: 120,739,861	R1201S	probably damaging	Het
Vmn2r102	A	T	17: 19,694,314	M714L	probably benign	Het
Vmn2r109	A	G	17: 20,541,343	L584S	probably damaging	Het
Vmn2r53	T	A	7: 12,601,202	H177L	probably benign	Het
Vnn1	T	A	10: 23,897,352	D92E	probably benign	Het
Zan	T	C	5: 137,446,712	I1762V	unknown	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het
Zfhx4	A	G	3: 5,245,503		probably null	Het
Zfp560	T	C	9: 20,351,918	E54G	possibly damaging	Het
Zfp719	C	T	7: 43,590,232	H415Y	probably damaging	Het
Zmynd11	A	C	13: 9,695,753	V188G	probably damaging	Het

Other mutations in Arhgap27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Arhgap27	APN	11	103333163	missense	probably benign	0.00
IGL02946:Arhgap27	APN	11	103338348	missense	probably damaging	1.00
IGL03135:Arhgap27	APN	11	103339065	splice site	probably null
R1789:Arhgap27	UTSW	11	103333005	missense	probably damaging	1.00
R1842:Arhgap27	UTSW	11	103339996	missense	probably damaging	0.99
R1906:Arhgap27	UTSW	11	103332925	missense	probably damaging	1.00
R2884:Arhgap27	UTSW	11	103360843	splice site	probably null
R2885:Arhgap27	UTSW	11	103360843	splice site	probably null
R3157:Arhgap27	UTSW	11	103333837	splice site	probably null
R4679:Arhgap27	UTSW	11	103360949	unclassified	probably benign
R4926:Arhgap27	UTSW	11	103339123	splice site	probably null
R5980:Arhgap27	UTSW	11	103356269	missense	probably benign	0.00
R6212:Arhgap27	UTSW	11	103360872	missense	probably damaging	1.00
R7205:Arhgap27	UTSW	11	103344541	missense	probably benign	0.00
R7208:Arhgap27	UTSW	11	103360759	missense	probably damaging	1.00
R7212:Arhgap27	UTSW	11	103360755	missense	probably damaging	0.99
R7327:Arhgap27	UTSW	11	103360541	nonsense	probably null
R7598:Arhgap27	UTSW	11	103334053	nonsense	probably null
R7732:Arhgap27	UTSW	11	103340043	missense	probably benign	0.00
R7791:Arhgap27	UTSW	11	103339194	critical splice donor site	probably null
R7826:Arhgap27	UTSW	11	103338327	missense	probably benign
R7869:Arhgap27	UTSW	11	103360304	missense	probably damaging	0.96
R7949:Arhgap27	UTSW	11	103337769	missense	probably damaging	0.98
R8057:Arhgap27	UTSW	11	103338693	missense	probably damaging	1.00
R8397:Arhgap27	UTSW	11	103333247	missense	probably damaging	0.98
X0028:Arhgap27	UTSW	11	103333028	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TATGAACTGGTGGAAGTGCG -3'
(R):5'- ACCGGCTTTTAGGGAGCTAAG -3'

Sequencing Primer
(F):5'- GGAAGAGAGGTTCCGGCAGC -3'
(R):5'- TATTGATGGGCTGTACCG -3'

Posted On

2015-10-21