Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01547:Arhgap39'

90374

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap39

Ensembl Gene

ENSMUSG00000033697

Gene Name

Rho GTPase activating protein 39

Synonyms

D15Wsu169e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

IGL01547

Quality Score

Status

Chromosome

Chromosomal Location

76608183-76702366 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 76622015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036176] [ENSMUST00000077821]

AlphaFold

P59281

Predicted Effect

probably benign
Transcript: ENSMUST00000036176

SMART Domains

Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697

Domain	Start	End	E-Value	Type
WW	27	60	1.64e0	SMART
WW	66	99	5.41e-1	SMART
low complexity region	125	138	N/A	INTRINSIC
low complexity region	304	318	N/A	INTRINSIC
Pfam:MyTH4	759	904	2.3e-32	PFAM
RhoGAP	932	1105	5.9e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077821

SMART Domains

Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697

Domain	Start	End	E-Value	Type
WW	27	60	1.64e0	SMART
WW	66	99	5.41e-1	SMART
low complexity region	125	138	N/A	INTRINSIC
low complexity region	304	318	N/A	INTRINSIC
Pfam:MyTH4	756	874	3.3e-25	PFAM
RhoGAP	901	1074	5.9e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177011

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,182,573 (GRCm39)	G243R	possibly damaging	Het
Afg3l1	T	C	8: 124,228,090 (GRCm39)	V625A	probably benign	Het
Bag1	A	G	4: 40,936,661 (GRCm39)	C332R	probably damaging	Het
Bcas2	T	C	3: 103,079,315 (GRCm39)	Y49H	probably damaging	Het
Cacna1b	C	A	2: 24,522,047 (GRCm39)		probably benign	Het
Cdyl	A	G	13: 35,974,145 (GRCm39)	D53G	possibly damaging	Het
Csmd3	T	C	15: 47,747,013 (GRCm39)	I1322V	probably benign	Het
Evc2	C	A	5: 37,550,431 (GRCm39)	A815E	probably benign	Het
Gm6309	C	T	5: 146,105,221 (GRCm39)	D231N	probably benign	Het
Mtfr2	C	T	10: 20,233,345 (GRCm39)	P305S	probably damaging	Het
Or14c44	A	G	7: 86,062,079 (GRCm39)	N170D	possibly damaging	Het
Or51k1	A	T	7: 103,661,867 (GRCm39)	I14N	probably benign	Het
Or7d10	A	T	9: 19,832,197 (GRCm39)	I231F	probably benign	Het
Pcdhb1	A	G	18: 37,400,395 (GRCm39)	H782R	probably benign	Het
Polr2a	A	G	11: 69,635,768 (GRCm39)	S480P	probably damaging	Het
Scaf11	T	C	15: 96,316,310 (GRCm39)	T1085A	probably benign	Het
Sema6c	C	T	3: 95,079,709 (GRCm39)	R668C	probably damaging	Het
Tas2r123	C	T	6: 132,824,421 (GRCm39)	T106I	probably damaging	Het
Tgm5	A	G	2: 120,879,683 (GRCm39)		probably benign	Het
Vmn2r23	T	A	6: 123,681,383 (GRCm39)	I97N	possibly damaging	Het
Vmn2r6	T	A	3: 64,445,525 (GRCm39)	K644N	probably damaging	Het
Zfp608	A	G	18: 55,027,521 (GRCm39)		probably null	Het

Other mutations in Arhgap39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01586:Arhgap39	APN	15	76,614,638 (GRCm39)	missense	probably benign	0.16
IGL01693:Arhgap39	APN	15	76,610,167 (GRCm39)	missense	probably null	1.00
IGL02017:Arhgap39	APN	15	76,621,237 (GRCm39)	missense	probably damaging	0.98
IGL02508:Arhgap39	APN	15	76,609,184 (GRCm39)	makesense	probably null
IGL03333:Arhgap39	APN	15	76,610,932 (GRCm39)	missense	probably benign	0.05
R0328:Arhgap39	UTSW	15	76,636,152 (GRCm39)	splice site	probably benign
R0432:Arhgap39	UTSW	15	76,619,086 (GRCm39)	missense	probably damaging	0.99
R0479:Arhgap39	UTSW	15	76,619,086 (GRCm39)	missense	probably damaging	0.99
R0549:Arhgap39	UTSW	15	76,619,086 (GRCm39)	missense	probably damaging	0.99
R0551:Arhgap39	UTSW	15	76,619,086 (GRCm39)	missense	probably damaging	0.99
R1054:Arhgap39	UTSW	15	76,635,759 (GRCm39)	missense	probably benign
R1830:Arhgap39	UTSW	15	76,619,383 (GRCm39)	missense	probably damaging	1.00
R2421:Arhgap39	UTSW	15	76,609,346 (GRCm39)	missense	probably damaging	1.00
R2497:Arhgap39	UTSW	15	76,609,585 (GRCm39)	missense	probably damaging	1.00
R3909:Arhgap39	UTSW	15	76,636,088 (GRCm39)	missense	probably benign	0.03
R4410:Arhgap39	UTSW	15	76,609,712 (GRCm39)	unclassified	probably benign
R4626:Arhgap39	UTSW	15	76,621,837 (GRCm39)	missense	possibly damaging	0.92
R4790:Arhgap39	UTSW	15	76,610,931 (GRCm39)	missense	possibly damaging	0.51
R4792:Arhgap39	UTSW	15	76,625,717 (GRCm39)	missense	possibly damaging	0.92
R4911:Arhgap39	UTSW	15	76,622,005 (GRCm39)	missense	probably damaging	1.00
R5225:Arhgap39	UTSW	15	76,609,715 (GRCm39)	unclassified	probably benign
R5417:Arhgap39	UTSW	15	76,619,301 (GRCm39)	missense	possibly damaging	0.80
R5443:Arhgap39	UTSW	15	76,682,125 (GRCm39)	intron	probably benign
R5521:Arhgap39	UTSW	15	76,649,694 (GRCm39)	missense	possibly damaging	0.66
R5686:Arhgap39	UTSW	15	76,610,833 (GRCm39)	missense	probably damaging	1.00
R5747:Arhgap39	UTSW	15	76,625,735 (GRCm39)	missense	possibly damaging	0.68
R5785:Arhgap39	UTSW	15	76,621,618 (GRCm39)	missense	probably benign
R5879:Arhgap39	UTSW	15	76,636,007 (GRCm39)	missense	probably damaging	1.00
R6035:Arhgap39	UTSW	15	76,621,424 (GRCm39)	nonsense	probably null
R6035:Arhgap39	UTSW	15	76,621,424 (GRCm39)	nonsense	probably null
R6049:Arhgap39	UTSW	15	76,611,601 (GRCm39)	critical splice donor site	probably null
R6143:Arhgap39	UTSW	15	76,614,606 (GRCm39)	nonsense	probably null
R6232:Arhgap39	UTSW	15	76,620,712 (GRCm39)	missense	probably damaging	1.00
R6276:Arhgap39	UTSW	15	76,621,736 (GRCm39)	missense	probably benign	0.06
R6277:Arhgap39	UTSW	15	76,619,337 (GRCm39)	missense	probably damaging	1.00
R6305:Arhgap39	UTSW	15	76,621,902 (GRCm39)	missense	probably benign	0.31
R6587:Arhgap39	UTSW	15	76,621,699 (GRCm39)	missense	probably damaging	1.00
R7153:Arhgap39	UTSW	15	76,649,691 (GRCm39)	missense	probably benign	0.09
R7447:Arhgap39	UTSW	15	76,649,797 (GRCm39)	start gained	probably benign
R7658:Arhgap39	UTSW	15	76,621,617 (GRCm39)	missense	probably benign	0.03
R8071:Arhgap39	UTSW	15	76,621,702 (GRCm39)	missense	probably benign
R8269:Arhgap39	UTSW	15	76,635,942 (GRCm39)	missense	probably benign	0.35
R8368:Arhgap39	UTSW	15	76,619,455 (GRCm39)	missense	probably damaging	1.00
R9124:Arhgap39	UTSW	15	76,619,467 (GRCm39)	missense	probably damaging	1.00
R9333:Arhgap39	UTSW	15	76,619,325 (GRCm39)	missense	probably damaging	1.00
R9438:Arhgap39	UTSW	15	76,636,118 (GRCm39)	missense	probably damaging	0.96
R9602:Arhgap39	UTSW	15	76,610,954 (GRCm39)	missense	probably damaging	0.98
R9615:Arhgap39	UTSW	15	76,621,438 (GRCm39)	missense	probably benign	0.02
R9700:Arhgap39	UTSW	15	76,611,617 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-12-03