Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00706:Arhgap26'

9020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap26

Ensembl Gene

ENSMUSG00000036452

Gene Name

Rho GTPase activating protein 26

Synonyms

4933432P15Rik, 2610010G17Rik, 1810044B20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00706

Quality Score

Status

Chromosome

Chromosomal Location

38734531-39509338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39419604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 521 (N521K)

Ref Sequence

ENSEMBL: ENSMUSP00000122371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097593] [ENSMUST00000137497] [ENSMUST00000155576]

AlphaFold

Q6ZQ82

Predicted Effect

probably damaging
Transcript: ENSMUST00000097593
AA Change: N521K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: N521K

Domain	Start	End	E-Value	Type
Pfam:BAR_3	6	249	1.8e-90	PFAM
Pfam:IMD	26	231	2.8e-9	PFAM
PH	266	371	3.23e-8	SMART
RhoGAP	387	565	4.51e-65	SMART
low complexity region	584	600	N/A	INTRINSIC
low complexity region	617	652	N/A	INTRINSIC
low complexity region	657	701	N/A	INTRINSIC
SH3	759	814	5.11e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128894

Predicted Effect

probably benign
Transcript: ENSMUST00000137497

SMART Domains

Protein: ENSMUSP00000121197
Gene: ENSMUSG00000036452

Domain	Start	End	E-Value	Type
PDB:1F7C\|A	1	32	7e-9	PDB
Blast:RhoGAP	16	65	2e-9	BLAST
low complexity region	66	101	N/A	INTRINSIC
SH3	116	171	5.11e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148399

Predicted Effect

unknown
Transcript: ENSMUST00000154551
AA Change: N139K

SMART Domains

Protein: ENSMUSP00000123145
Gene: ENSMUSG00000036452
AA Change: N139K

Domain	Start	End	E-Value	Type
RhoGAP	6	184	4.51e-65	SMART
low complexity region	203	219	N/A	INTRINSIC
low complexity region	236	271	N/A	INTRINSIC
low complexity region	276	317	N/A	INTRINSIC
SH3	333	388	5.11e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000155576
AA Change: N521K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: N521K

Domain	Start	End	E-Value	Type
Pfam:IMD	27	232	1.2e-8	PFAM
PH	266	371	3.23e-8	SMART
RhoGAP	387	565	4.51e-65	SMART
low complexity region	584	600	N/A	INTRINSIC
low complexity region	617	652	N/A	INTRINSIC
low complexity region	657	702	N/A	INTRINSIC
SH3	704	759	5.11e-14	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous for a hypomorphic allele display reduced myofiber size, impaired myoblast fusion and abnormal muscle regeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	A	19: 8,991,094 (GRCm39)	S4126*	probably null	Het
Bard1	C	T	1: 71,070,585 (GRCm39)	R633H	probably benign	Het
Cntn3	C	T	6: 102,180,910 (GRCm39)	V762I	probably benign	Het
Cyp2e1	T	C	7: 140,349,066 (GRCm39)	I132T	probably benign	Het
Cyp2t4	T	C	7: 26,854,583 (GRCm39)	I13T	probably benign	Het
Dhx36	A	T	3: 62,404,263 (GRCm39)	C227S	probably damaging	Het
Fetub	A	G	16: 22,754,446 (GRCm39)	T138A	probably benign	Het
Gab3	C	T	X: 74,048,965 (GRCm39)	S362N	probably benign	Het
Gpr158	T	C	2: 21,751,584 (GRCm39)	L501P	probably damaging	Het
Ifit1bl2	T	A	19: 34,596,282 (GRCm39)	T445S	probably benign	Het
Kdm5a	T	A	6: 120,383,597 (GRCm39)	D779E	possibly damaging	Het
Ms4a5	C	T	19: 11,261,142 (GRCm39)	V6I	probably benign	Het
Rgl3	A	G	9: 21,888,535 (GRCm39)	F425S	probably damaging	Het
Rnf6	T	C	5: 146,148,715 (GRCm39)	D112G	possibly damaging	Het
Spink12	G	A	18: 44,240,872 (GRCm39)	C86Y	probably damaging	Het
Styxl2	T	C	1: 165,928,121 (GRCm39)	E497G	probably benign	Het
Wdr3	G	A	3: 100,055,416 (GRCm39)		probably benign	Het

Other mutations in Arhgap26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Arhgap26	APN	18	39,244,856 (GRCm39)	missense	probably damaging	0.97
IGL01409:Arhgap26	APN	18	39,243,504 (GRCm39)	splice site	probably benign
IGL02316:Arhgap26	APN	18	38,775,599 (GRCm39)	exon	noncoding transcript
IGL02418:Arhgap26	APN	18	39,490,620 (GRCm39)	intron	probably benign
IGL02588:Arhgap26	APN	18	38,734,670 (GRCm39)	unclassified	probably benign
IGL03241:Arhgap26	APN	18	39,362,970 (GRCm39)	missense	probably damaging	1.00
R0184:Arhgap26	UTSW	18	38,750,726 (GRCm39)	missense	unknown
R0244:Arhgap26	UTSW	18	39,496,184 (GRCm39)	missense	probably benign	0.05
R0347:Arhgap26	UTSW	18	38,750,797 (GRCm39)	missense	unknown
R1533:Arhgap26	UTSW	18	39,504,130 (GRCm39)	missense	probably benign	0.16
R1606:Arhgap26	UTSW	18	39,429,925 (GRCm39)	missense	probably damaging	1.00
R2066:Arhgap26	UTSW	18	39,439,781 (GRCm39)	missense	probably damaging	1.00
R2182:Arhgap26	UTSW	18	39,490,862 (GRCm39)	intron	probably benign
R2291:Arhgap26	UTSW	18	39,490,751 (GRCm39)	intron	probably benign
R3611:Arhgap26	UTSW	18	39,066,972 (GRCm39)	missense	probably benign
R3700:Arhgap26	UTSW	18	39,253,237 (GRCm39)	missense	probably damaging	0.99
R3887:Arhgap26	UTSW	18	39,363,019 (GRCm39)	critical splice donor site	probably null
R4621:Arhgap26	UTSW	18	39,032,894 (GRCm39)	intron	probably benign
R4877:Arhgap26	UTSW	18	39,429,982 (GRCm39)	splice site	probably null
R4910:Arhgap26	UTSW	18	39,126,690 (GRCm39)	splice site	probably benign
R4911:Arhgap26	UTSW	18	39,126,690 (GRCm39)	splice site	probably benign
R4954:Arhgap26	UTSW	18	39,376,694 (GRCm39)	missense	probably benign	0.00
R4967:Arhgap26	UTSW	18	39,379,893 (GRCm39)	missense	probably damaging	1.00
R5221:Arhgap26	UTSW	18	39,243,525 (GRCm39)	nonsense	probably null
R5232:Arhgap26	UTSW	18	39,126,529 (GRCm39)	start codon destroyed	probably null	0.97
R5297:Arhgap26	UTSW	18	39,254,941 (GRCm39)	missense	probably damaging	1.00
R5372:Arhgap26	UTSW	18	38,775,509 (GRCm39)	exon	noncoding transcript
R5570:Arhgap26	UTSW	18	39,232,671 (GRCm39)	missense	probably damaging	0.99
R5692:Arhgap26	UTSW	18	39,254,945 (GRCm39)	missense	probably damaging	1.00
R5752:Arhgap26	UTSW	18	39,419,725 (GRCm39)	missense	probably damaging	1.00
R5930:Arhgap26	UTSW	18	39,283,145 (GRCm39)	missense	probably damaging	0.96
R6131:Arhgap26	UTSW	18	39,419,638 (GRCm39)	nonsense	probably null
R6251:Arhgap26	UTSW	18	39,490,880 (GRCm39)	missense	probably null
R6481:Arhgap26	UTSW	18	39,283,110 (GRCm39)	missense	probably damaging	1.00
R6622:Arhgap26	UTSW	18	39,032,916 (GRCm39)	intron	probably benign
R6799:Arhgap26	UTSW	18	39,232,660 (GRCm39)	missense	probably damaging	1.00
R6878:Arhgap26	UTSW	18	39,360,465 (GRCm39)	missense	probably damaging	1.00
R6989:Arhgap26	UTSW	18	39,232,682 (GRCm39)	missense	probably damaging	1.00
R7248:Arhgap26	UTSW	18	39,439,907 (GRCm39)	critical splice donor site	probably null
R7936:Arhgap26	UTSW	18	39,338,340 (GRCm39)	missense	probably damaging	1.00
R7960:Arhgap26	UTSW	18	39,362,980 (GRCm39)	missense
R8103:Arhgap26	UTSW	18	39,504,177 (GRCm39)	missense
R8206:Arhgap26	UTSW	18	39,439,803 (GRCm39)	nonsense	probably null
R8356:Arhgap26	UTSW	18	39,244,901 (GRCm39)	missense	possibly damaging	0.89
R8456:Arhgap26	UTSW	18	39,244,901 (GRCm39)	missense	possibly damaging	0.89
R8987:Arhgap26	UTSW	18	39,490,652 (GRCm39)	missense
R9025:Arhgap26	UTSW	18	39,379,898 (GRCm39)	missense
R9149:Arhgap26	UTSW	18	39,244,917 (GRCm39)	missense	possibly damaging	0.94
R9172:Arhgap26	UTSW	18	39,378,382 (GRCm39)	missense	probably damaging	1.00
R9191:Arhgap26	UTSW	18	39,439,893 (GRCm39)	missense
R9576:Arhgap26	UTSW	18	39,253,207 (GRCm39)	nonsense	probably null
X0013:Arhgap26	UTSW	18	39,504,165 (GRCm39)	missense	probably damaging	1.00
X0025:Arhgap26	UTSW	18	39,283,158 (GRCm39)	missense	probably damaging	1.00
Z1088:Arhgap26	UTSW	18	39,490,724 (GRCm39)	splice site	probably benign

Posted On

2012-12-06