Mutagenetix > Incidental Mutation

Incidental Mutation 'R6481:Arhgap26'

517144

Institutional Source

Beutler Lab

Gene Symbol

Arhgap26

Ensembl Gene

ENSMUSG00000036452

Gene Name

Rho GTPase activating protein 26

Synonyms

4933432P15Rik, 2610010G17Rik, 1810044B20Rik

MMRRC Submission

044613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6481 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38734531-39509338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39283110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 349 (M349K)

Ref Sequence

ENSEMBL: ENSMUSP00000122371 (fasta)

Gene Model

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

AlphaFold

Q6ZQ82

Predicted Effect

probably damaging
Transcript: ENSMUST00000097593
AA Change: M349K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: M349K

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 damaging
Transcript: ENSMUST00000155576
AA Change: M349K

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

SMART Domains

Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: M349K

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	T	C	1: 31,261,588 (GRCm39)		probably benign	Het
Aadacl2fm3	T	C	3: 59,768,478 (GRCm39)	Y3H	probably benign	Het
Abca9	G	A	11: 110,056,788 (GRCm39)	Q11*	probably null	Het
Abcc9	A	T	6: 142,550,621 (GRCm39)	M1273K	probably damaging	Het
Abi2	A	G	1: 60,478,098 (GRCm39)		probably null	Het
Acsm5	A	G	7: 119,134,104 (GRCm39)	E295G	probably benign	Het
Anapc5	T	C	5: 122,938,607 (GRCm39)	D389G	probably benign	Het
Ano3	A	T	2: 110,625,372 (GRCm39)	D159E	probably benign	Het
Arhgef39	A	G	4: 43,498,580 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,440,032 (GRCm39)	S867P	probably benign	Het
Atad3a	A	T	4: 155,838,098 (GRCm39)		probably null	Het
Cadm1	A	T	9: 47,699,407 (GRCm39)	D91V	probably damaging	Het
Cc2d2b	T	C	19: 40,790,839 (GRCm39)	I933T	possibly damaging	Het
Cdcp3	A	T	7: 130,858,530 (GRCm39)	D1066V	probably benign	Het
Celsr3	C	G	9: 108,714,283 (GRCm39)	N1937K	possibly damaging	Het
Cic	A	C	7: 24,987,706 (GRCm39)	T558P	possibly damaging	Het
Cntln	A	G	4: 84,985,747 (GRCm39)	M933V	probably benign	Het
Coch	T	C	12: 51,644,956 (GRCm39)	F170S	probably damaging	Het
Col1a2	A	G	6: 4,538,680 (GRCm39)	Y1200C	unknown	Het
Col26a1	T	C	5: 136,773,032 (GRCm39)	M383V	probably benign	Het
Col4a4	A	T	1: 82,431,499 (GRCm39)	M1595K	unknown	Het
Crh	T	C	3: 19,748,501 (GRCm39)	E47G	probably benign	Het
D930020B18Rik	T	C	10: 121,497,053 (GRCm39)		probably null	Het
Def6	G	A	17: 28,445,137 (GRCm39)	R482H	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpagt1	T	C	9: 44,242,487 (GRCm39)	L241P	probably damaging	Het
E2f7	A	G	10: 110,610,542 (GRCm39)	E389G	probably damaging	Het
Eif2b1	T	C	5: 124,715,174 (GRCm39)	I53V	probably benign	Het
Fbxo4	A	G	15: 3,995,216 (GRCm39)	L376P	probably damaging	Het
Fgfr2	A	G	7: 129,787,008 (GRCm39)	S352P	possibly damaging	Het
Fkbpl	C	A	17: 34,864,388 (GRCm39)	P52Q	possibly damaging	Het
Fry	G	A	5: 150,309,479 (GRCm39)	R641H	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm12728	A	G	4: 105,651,546 (GRCm39)	K52R	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,053 (GRCm39)	D379G	probably benign	Het
Gys1	A	T	7: 45,092,393 (GRCm39)	Y332F	possibly damaging	Het
Hoxa7	T	A	6: 52,193,594 (GRCm39)		probably benign	Het
Ifitm1	G	A	7: 140,549,519 (GRCm39)	V101I	probably benign	Het
Kalrn	T	A	16: 34,181,354 (GRCm39)	T95S	probably damaging	Het
Leng8	A	G	7: 4,148,412 (GRCm39)	Y728C	probably damaging	Het
Lonp2	G	T	8: 87,361,536 (GRCm39)	D238Y	possibly damaging	Het
Ltn1	A	C	16: 87,175,868 (GRCm39)	S1757A	probably damaging	Het
Man2a2	A	T	7: 80,013,819 (GRCm39)	S411T	probably damaging	Het
Mrps33	C	A	6: 39,782,304 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,461,973 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,362,808 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Or10al6	T	G	17: 38,083,194 (GRCm39)	F217V	probably damaging	Het
Or13p8	A	G	4: 118,583,930 (GRCm39)	Y162C	probably damaging	Het
Or1j21	T	A	2: 36,683,789 (GRCm39)	D180E	possibly damaging	Het
Or4c106	A	T	2: 88,682,863 (GRCm39)	T190S	probably damaging	Het
Or55b10	A	T	7: 102,143,346 (GRCm39)	V212D	probably damaging	Het
Or5w17	T	C	2: 87,583,812 (GRCm39)	N175S	probably damaging	Het
Pag1	T	A	3: 9,764,396 (GRCm39)	E252D	possibly damaging	Het
Plcd3	T	C	11: 102,968,593 (GRCm39)	Y366C	probably damaging	Het
Psg17	A	C	7: 18,548,375 (GRCm39)	S465R	probably damaging	Het
Ptpn9	G	T	9: 56,930,324 (GRCm39)	V50L	probably damaging	Het
Rab17	T	G	1: 90,886,683 (GRCm39)	S190R	probably benign	Het
Samd11	A	G	4: 156,333,535 (GRCm39)		probably null	Het
Slc17a5	A	G	9: 78,445,553 (GRCm39)	F434S	possibly damaging	Het
Slc22a15	A	G	3: 101,790,899 (GRCm39)	I202T	possibly damaging	Het
Slc8a1	G	T	17: 81,696,347 (GRCm39)	Q896K	probably benign	Het
Slc9a5	A	T	8: 106,085,025 (GRCm39)	K509*	probably null	Het
Slf2	A	C	19: 44,961,603 (GRCm39)	M1041L	probably benign	Het
Smn1	A	G	13: 100,265,008 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,972,484 (GRCm39)		probably null	Het
Soat2	T	A	15: 102,070,490 (GRCm39)	L431Q	probably damaging	Het
Spam1	T	A	6: 24,796,929 (GRCm39)	N293K	probably benign	Het
Tatdn1	T	C	15: 58,795,760 (GRCm39)	T66A	possibly damaging	Het
Tmprss11g	A	T	5: 86,640,015 (GRCm39)	S205T	probably benign	Het
Tnpo3	G	T	6: 29,571,100 (GRCm39)	N431K	possibly damaging	Het
Trim39	T	C	17: 36,579,554 (GRCm39)	T31A	probably benign	Het
Trmt9b	T	C	8: 36,965,637 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,451,764 (GRCm39)		probably null	Het
Ttll11	G	A	2: 35,792,766 (GRCm39)	T359M	probably damaging	Het
Ttn	T	G	2: 76,571,843 (GRCm39)	D26350A	probably damaging	Het
Ubr4	G	T	4: 139,159,062 (GRCm39)	V2472F	probably damaging	Het
Vsx2	C	T	12: 84,639,878 (GRCm39)	P265S	probably benign	Het
Wdr90	C	T	17: 26,064,885 (GRCm39)	G1708R	probably damaging	Het
Wnt11	A	G	7: 98,502,481 (GRCm39)	Y351C	probably damaging	Het
Xpo6	A	C	7: 125,712,057 (GRCm39)	N3K	probably damaging	Het
Zfp445	A	G	9: 122,686,631 (GRCm39)	S165P	probably benign	Het
Zfp953	A	T	13: 67,496,001 (GRCm39)	Y13*	probably null	Het
Zftraf1	T	C	15: 76,542,908 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GCACCCTGTTAAGCAAATGGG -3'
(R):5'- GCCTCTGGGACATTGGTTTC -3'

Sequencing Primer
(F):5'- CCCTGTTAAGCAAATGGGTTCCTG -3'
(R):5'- CCTCTGGGACATTGGTTTCAAAGAC -3'

Posted On

2018-05-21