Mutagenetix > Incidental Mutation

Incidental Mutation 'R9149:Arhgap26'

694937

Institutional Source

Beutler Lab

Gene Symbol

Arhgap26

Ensembl Gene

ENSMUSG00000036452

Gene Name

Rho GTPase activating protein 26

Synonyms

4933432P15Rik, 2610010G17Rik, 1810044B20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38734531-39509338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39244917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 187 (E187D)

Ref Sequence

ENSEMBL: ENSMUSP00000095200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097593] [ENSMUST00000148850] [ENSMUST00000155576]

AlphaFold

Q6ZQ82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097593
AA Change: E187D

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: E187D

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

probably benign
Transcript: ENSMUST00000148850

SMART Domains

Protein: ENSMUSP00000121894
Gene: ENSMUSG00000036452

Domain	Start	End	E-Value	Type
coiled coil region	99	128	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155576
AA Change: E187D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: E187D

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (90/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,396,304 (GRCm39)	S103N	probably benign	Het
Ace	A	G	11: 105,863,299 (GRCm39)	D358G	possibly damaging	Het
Acvr2b	A	T	9: 119,257,116 (GRCm39)	H115L	probably damaging	Het
Adam15	G	A	3: 89,254,742 (GRCm39)	T106I	possibly damaging	Het
Adamts16	A	G	13: 70,883,948 (GRCm39)	C1076R	probably damaging	Het
Adcy5	A	G	16: 35,092,481 (GRCm39)	Y614C	probably damaging	Het
Adhfe1	A	T	1: 9,627,276 (GRCm39)	H225L	probably benign	Het
Aff3	A	G	1: 38,220,397 (GRCm39)	I1171T	probably damaging	Het
Agps	T	A	2: 75,697,182 (GRCm39)	M334K	probably damaging	Het
Akr1e1	A	G	13: 4,652,678 (GRCm39)		probably null	Het
Als2cl	G	A	9: 110,718,191 (GRCm39)	V311M	probably benign	Het
Amdhd1	A	T	10: 93,375,813 (GRCm39)	L7H	probably damaging	Het
Apba1	A	T	19: 23,870,782 (GRCm39)	I205F	probably damaging	Het
Ash1l	A	T	3: 88,914,530 (GRCm39)	H1720L	probably benign	Het
Atp9a	T	C	2: 168,575,988 (GRCm39)		probably benign	Het
Bcl7c	G	A	7: 127,307,695 (GRCm39)	A2V	probably damaging	Het
Catsperg1	G	C	7: 28,909,912 (GRCm39)	P72R	probably benign	Het
Ccdc103	G	A	11: 102,774,922 (GRCm39)	G174R	probably benign	Het
Ccdc171	A	T	4: 83,612,512 (GRCm39)	K976M	probably damaging	Het
Ceacam1	T	C	7: 25,173,360 (GRCm39)	N276S	possibly damaging	Het
Cep152	T	C	2: 125,461,803 (GRCm39)	N91S	probably damaging	Het
Cep152	T	C	2: 125,463,127 (GRCm39)	E18G	probably damaging	Het
Cers3	T	C	7: 66,393,442 (GRCm39)	L17P	probably benign	Het
Cpsf3	A	G	12: 21,356,844 (GRCm39)	N489S	possibly damaging	Het
Cramp1	A	G	17: 25,187,920 (GRCm39)	S1225P	probably damaging	Het
Dck	G	A	5: 88,913,166 (GRCm39)	G18R	probably benign	Het
Dnah5	A	T	15: 28,387,914 (GRCm39)	E3124D	probably benign	Het
Dync2i2	T	A	2: 29,923,953 (GRCm39)	T191S	probably benign	Het
Eogt	T	G	6: 97,090,839 (GRCm39)	L433F	probably damaging	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fsip2	T	C	2: 82,812,374 (GRCm39)	Y2898H	possibly damaging	Het
Fzr1	T	C	10: 81,205,249 (GRCm39)	H249R	probably benign	Het
Gbp10	T	G	5: 105,366,861 (GRCm39)	Q457P	probably damaging	Het
Gin1	G	C	1: 97,710,819 (GRCm39)	L167F	probably damaging	Het
Gm14226	A	T	2: 154,866,843 (GRCm39)	I267F	probably damaging	Het
Gmnc	A	G	16: 26,781,642 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,576,402 (GRCm39)	I311F	probably damaging	Het
Heg1	A	G	16: 33,558,961 (GRCm39)	K1085E	probably benign	Het
Hmbs	G	A	9: 44,252,983 (GRCm39)	Q34*	probably null	Het
Hyal6	T	A	6: 24,734,151 (GRCm39)	M28K	probably benign	Het
Ifi27l2a	T	C	12: 103,405,678 (GRCm39)	V141A	possibly damaging	Het
Ift122	T	A	6: 115,867,492 (GRCm39)	I414N	probably damaging	Het
Iglv2	A	T	16: 19,079,434 (GRCm39)	V23E	probably damaging	Het
Itgax	A	T	7: 127,730,641 (GRCm39)	I120L	probably benign	Het
Kifc3	A	G	8: 95,853,317 (GRCm39)	I13T	probably benign	Het
Lmod3	T	C	6: 97,224,625 (GRCm39)	N399D	probably damaging	Het
Macf1	A	T	4: 123,365,326 (GRCm39)	I3145K	probably benign	Het
Map2k5	A	C	9: 63,201,006 (GRCm39)	I209S	probably damaging	Het
Mbd5	A	G	2: 49,141,388 (GRCm39)	E117G	probably damaging	Het
Milr1	A	G	11: 106,652,105 (GRCm39)	H172R	probably benign	Het
Myod1	A	C	7: 46,026,593 (GRCm39)	D166A		Het
Neb	C	T	2: 52,100,878 (GRCm39)	V4647M	possibly damaging	Het
Nek1	A	T	8: 61,574,055 (GRCm39)	D1101V	probably damaging	Het
Nlrp2	A	T	7: 5,330,572 (GRCm39)	V608D	probably benign	Het
Noc3l	G	A	19: 38,800,835 (GRCm39)	Q216*	probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup160	T	A	2: 90,552,585 (GRCm39)		probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Oat	C	T	7: 132,166,006 (GRCm39)	S193N	probably benign	Het
Oma1	A	G	4: 103,182,214 (GRCm39)		probably null	Het
Or12e13	G	T	2: 87,663,523 (GRCm39)	G47*	probably null	Het
Or1e16	T	A	11: 73,286,853 (GRCm39)		probably benign	Het
Or1j15	T	G	2: 36,458,988 (GRCm39)	F126C	probably benign	Het
Or6c206	A	G	10: 129,097,184 (GRCm39)	Y118C	probably damaging	Het
Or6c216	A	G	10: 129,678,482 (GRCm39)	V143A	probably damaging	Het
Os9	A	G	10: 126,933,918 (GRCm39)	S500P	possibly damaging	Het
Osbpl11	A	T	16: 33,047,660 (GRCm39)	N541I		Het
Pcnx4	A	G	12: 72,613,671 (GRCm39)	I539V	probably benign	Het
Ppfia3	T	A	7: 44,999,717 (GRCm39)		probably null	Het
Ppp1r3a	T	C	6: 14,722,098 (GRCm39)	K275E	probably benign	Het
Pten	A	G	19: 32,769,972 (GRCm39)	N63S	probably benign	Het
Rptor	A	G	11: 119,777,896 (GRCm39)	N1020S	probably benign	Het
Sall2	C	A	14: 52,550,673 (GRCm39)	D841Y	possibly damaging	Het
Sbno1	T	A	5: 124,519,762 (GRCm39)	H1172L	probably benign	Het
Scaf4	A	T	16: 90,027,054 (GRCm39)	L921Q	probably damaging	Het
Sec22c	C	A	9: 121,524,750 (GRCm39)	R11L	probably damaging	Het
Skint6	T	A	4: 113,034,173 (GRCm39)	D318V	probably damaging	Het
Slc22a28	T	C	19: 8,049,205 (GRCm39)	N348S	probably benign	Het
Slc44a2	G	T	9: 21,253,305 (GRCm39)	K77N	possibly damaging	Het
Smc1b	C	T	15: 84,950,431 (GRCm39)	V1198I	probably benign	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Stra8	T	C	6: 34,911,016 (GRCm39)	Y215H	probably damaging	Het
Sv2a	G	T	3: 96,097,010 (GRCm39)	R445L	probably benign	Het
Sycp1	A	C	3: 102,758,944 (GRCm39)	L771R	probably damaging	Het
Tchp	A	T	5: 114,859,184 (GRCm39)	R493*	probably null	Het
Ttc13	G	A	8: 125,410,039 (GRCm39)	A391V	probably benign	Het
Unc13b	C	T	4: 43,176,186 (GRCm39)	T2338I	unknown	Het
Wac	A	G	18: 7,921,592 (GRCm39)	D576G	probably damaging	Het
Xdh	T	C	17: 74,222,688 (GRCm39)	N559S	probably benign	Het
Zscan20	A	T	4: 128,481,914 (GRCm39)	S583T	probably benign	Het

Other mutations in Arhgap26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Arhgap26	APN	18	39,419,604 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTAGCTTACCATTTGTCTTCAG -3'
(R):5'- ATCACTGAGCTGGGAAGAGTC -3'

Sequencing Primer
(F):5'- ACCATTTGTCTTCAGTATCATGCTG -3'
(R):5'- TCCAGGGAGCCAAAGTGAC -3'

Posted On

2022-01-20