Mutagenetix > Incidental Mutation

Incidental Mutation 'R9025:Arhgap26'

686523

Institutional Source

Beutler Lab

Gene Symbol

Arhgap26

Ensembl Gene

ENSMUSG00000036452

Gene Name

Rho GTPase activating protein 26

Synonyms

4933432P15Rik, 2610010G17Rik, 1810044B20Rik

MMRRC Submission

068854-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9025 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38734531-39509338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39379898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 105 (S105P)

Gene Model

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

AlphaFold

Q6ZQ82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097593
AA Change: S487P

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: S487P

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

SMART Domains

Protein: ENSMUSP00000123145
Gene: ENSMUSG00000036452
AA Change: S105P

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

possibly damaging
Transcript: ENSMUST00000155576
AA Change: S487P

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: S487P

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

Meta Mutation Damage Score

0.0741

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,534,545 (GRCm39)	N837K	possibly damaging	Het
Adam29	A	T	8: 56,325,196 (GRCm39)	C419*	probably null	Het
Adamts7	C	A	9: 90,067,848 (GRCm39)	S446*	probably null	Het
Ager	A	G	17: 34,819,594 (GRCm39)	R371G	probably damaging	Het
Apobr	T	A	7: 126,185,629 (GRCm39)	V380E	possibly damaging	Het
Atrip	A	G	9: 108,902,906 (GRCm39)	F56S	probably damaging	Het
Bag2	T	C	1: 33,785,905 (GRCm39)	Y139C		Het
Bccip	C	T	7: 133,319,346 (GRCm39)	Q146*	probably null	Het
Btbd10	G	A	7: 112,951,031 (GRCm39)	R20W	possibly damaging	Het
Catsperd	T	A	17: 56,962,156 (GRCm39)	N443K	probably damaging	Het
Cdh26	G	A	2: 178,104,409 (GRCm39)	E265K	probably benign	Het
Cep76	T	C	18: 67,767,885 (GRCm39)	R216G	probably damaging	Het
Cgas	C	A	9: 78,349,787 (GRCm39)	V192L	probably benign	Het
Cnot1	T	A	8: 96,475,660 (GRCm39)	M1000L	probably benign	Het
Cyp1a1	A	G	9: 57,610,070 (GRCm39)	T495A	possibly damaging	Het
Cyp2w1	T	A	5: 139,342,470 (GRCm39)	M421K	probably benign	Het
Dlg5	T	C	14: 24,199,546 (GRCm39)	T1453A	probably benign	Het
Dnah5	G	T	15: 28,409,412 (GRCm39)	W3610L	probably damaging	Het
Dnah9	T	C	11: 65,896,651 (GRCm39)	D2391G	probably damaging	Het
Dnajc10	G	A	2: 80,179,637 (GRCm39)	G724R	probably damaging	Het
Dst	T	A	1: 34,227,585 (GRCm39)	I1726N	possibly damaging	Het
Dync2h1	A	T	9: 7,139,462 (GRCm39)	L1391*	probably null	Het
Dzank1	T	C	2: 144,318,012 (GRCm39)	S718G	probably benign	Het
E230025N22Rik	T	C	18: 36,819,890 (GRCm39)	D300G	probably damaging	Het
Ebf3	T	C	7: 136,914,098 (GRCm39)	I131V	possibly damaging	Het
Eif3g	T	C	9: 20,807,426 (GRCm39)	I131V	probably benign	Het
Eppk1	T	A	15: 75,990,503 (GRCm39)	Q2126L	possibly damaging	Het
Fam83h	T	C	15: 75,874,182 (GRCm39)	R1052G	probably benign	Het
Fry	A	T	5: 150,219,273 (GRCm39)		probably benign	Het
Ggt6	C	T	11: 72,328,123 (GRCm39)	H208Y	possibly damaging	Het
Gm15821	T	A	17: 34,433,235 (GRCm39)	E28V	unknown	Het
Gprin2	T	C	14: 33,916,957 (GRCm39)	Q271R	probably damaging	Het
Gsdmd	T	C	15: 75,739,053 (GRCm39)	F477L	probably benign	Het
Hes7	T	C	11: 69,013,782 (GRCm39)	S214P	probably benign	Het
Hmcn2	A	G	2: 31,347,967 (GRCm39)	H4871R	possibly damaging	Het
Il15ra	G	A	2: 11,723,233 (GRCm39)	V86I	possibly damaging	Het
Il17rb	C	A	14: 29,724,857 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnab2	T	C	4: 152,491,635 (GRCm39)	Y63C	probably damaging	Het
Kctd17	A	T	15: 78,314,282 (GRCm39)	Y84F	probably damaging	Het
Lama1	T	A	17: 68,119,491 (GRCm39)	V2656E		Het
Lama2	T	C	10: 26,860,367 (GRCm39)	N3040S	probably benign	Het
Ldha	C	T	7: 46,500,433 (GRCm39)	R173C	unknown	Het
Lig1	A	G	7: 13,037,746 (GRCm39)	I665M	probably damaging	Het
Lipe	G	A	7: 25,083,923 (GRCm39)	A412V	probably damaging	Het
Lrrc63	T	C	14: 75,322,284 (GRCm39)	T607A	probably benign	Het
Majin	G	A	19: 6,263,427 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,758,175 (GRCm39)	L335P	probably benign	Het
Map3k9	A	G	12: 81,819,507 (GRCm39)	L249P	probably damaging	Het
Muc5b	G	T	7: 141,426,209 (GRCm39)	D4769Y	probably damaging	Het
Myh9	T	C	15: 77,653,192 (GRCm39)	T1382A	probably benign	Het
Nedd4l	T	A	18: 65,311,995 (GRCm39)	D407E	probably damaging	Het
Ngp	A	G	9: 110,251,451 (GRCm39)	I160V	possibly damaging	Het
Nmrk1	A	G	19: 18,617,156 (GRCm39)		probably benign	Het
Nnmt	C	A	9: 48,503,461 (GRCm39)	K188N	probably damaging	Het
Nup153	T	A	13: 46,837,709 (GRCm39)	Q1171L	probably benign	Het
Oplah	T	A	15: 76,187,417 (GRCm39)	E556V	probably benign	Het
Or9g3	T	G	2: 85,589,879 (GRCm39)	L280F	possibly damaging	Het
Otog	A	G	7: 45,937,520 (GRCm39)	D1743G	probably benign	Het
Otogl	T	C	10: 107,613,432 (GRCm39)	Y2011C	probably damaging	Het
Pbx4	C	T	8: 70,317,097 (GRCm39)	P118L	probably benign	Het
Plekha6	T	A	1: 133,212,999 (GRCm39)	S757T	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Polr3a	C	T	14: 24,519,479 (GRCm39)	S643N	probably damaging	Het
Pwp1	T	A	10: 85,718,745 (GRCm39)	L304Q	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,644,736 (GRCm39)	F350L	probably benign	Het
Safb2	T	C	17: 56,873,614 (GRCm39)	E683G	probably damaging	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Serpina3k	A	G	12: 104,307,230 (GRCm39)	E154G	probably damaging	Het
Sgsm3	T	A	15: 80,892,182 (GRCm39)	V250D	probably damaging	Het
Slit1	T	A	19: 41,612,968 (GRCm39)	I851F	probably benign	Het
Spag4	G	A	2: 155,910,424 (GRCm39)	G350E	probably damaging	Het
Sult2a7	A	T	7: 14,225,755 (GRCm39)	L77Q	probably damaging	Het
Tbc1d2	T	A	4: 46,607,062 (GRCm39)	T783S	probably damaging	Het
Thoc6	T	C	17: 23,888,862 (GRCm39)	E182G		Het
Tmem132a	A	T	19: 10,837,525 (GRCm39)	I595N	probably damaging	Het
Trim69	A	G	2: 122,003,771 (GRCm39)	N240S	probably benign	Het
Ush1c	A	T	7: 45,846,614 (GRCm39)		probably benign	Het
Wnk4	T	G	11: 101,153,641 (GRCm39)	Y234*	probably null	Het
Zfp943	A	G	17: 22,211,321 (GRCm39)	N136D	possibly damaging	Het
Znhit2	G	A	19: 6,111,669 (GRCm39)	R138H	possibly damaging	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
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'- CCAGCTCCGTTTCATCACAG -3'
(R):5'- CTGCTGTAACAGTGGGAGAGAC -3'

Sequencing Primer
(F):5'- CACTGAAAGGCCTTTAGAGCCTG -3'
(R):5'- AGACATGCAGTGACTTCCTG -3'

Posted On

2021-10-11