Mutagenetix > Incidental Mutation

Incidental Mutation 'R6035:Arhgap39'

486543

Institutional Source

Beutler Lab

Gene Symbol

Arhgap39

Ensembl Gene

ENSMUSG00000033697

Gene Name

Rho GTPase activating protein 39

Synonyms

D15Wsu169e

MMRRC Submission

044207-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R6035 (G1)

Quality Score

197.009

Status

Not validated

Chromosome

Chromosomal Location

76608183-76702366 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 76621424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 392 (Y392*)

Ref Sequence

ENSEMBL: ENSMUSP00000076993 (fasta)

Gene Model

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

AlphaFold

P59281

Predicted Effect

probably null
Transcript: ENSMUST00000036176
AA Change: Y392*

SMART Domains

Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
AA Change: Y392*

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 null
Transcript: ENSMUST00000077821
AA Change: Y392*

SMART Domains

Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
AA Change: Y392*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

84% (62/74)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,615,353 (GRCm39)	G76W	probably damaging	Het
Abca17	A	T	17: 24,500,219 (GRCm39)	F1324Y	possibly damaging	Het
Abca8b	A	T	11: 109,862,686 (GRCm39)		probably null	Het
Abcc12	A	G	8: 87,244,033 (GRCm39)	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,818,788 (GRCm39)	F7L	probably damaging	Het
Adcy9	T	C	16: 4,122,377 (GRCm39)	T558A	probably benign	Het
Adgrb1	A	T	15: 74,412,292 (GRCm39)	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,968,721 (GRCm39)	P786Q	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Carmil2	G	T	8: 106,419,195 (GRCm39)	W749L	probably benign	Het
Ccar1	A	G	10: 62,587,564 (GRCm39)	Y867H	unknown	Het
Cdh13	A	G	8: 119,232,437 (GRCm39)	D47G	probably benign	Het
Chst9	T	A	18: 15,585,910 (GRCm39)	T218S	probably benign	Het
Clec2i	G	A	6: 128,870,587 (GRCm39)	V67I	probably benign	Het
Cox7a2	T	A	9: 79,667,028 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,519,030 (GRCm39)		probably null	Het
Cpz	A	G	5: 35,674,929 (GRCm39)	C107R	probably damaging	Het
Dapk1	T	A	13: 60,909,013 (GRCm39)	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,681,781 (GRCm39)	M307V	probably benign	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Ebf2	A	G	14: 67,476,423 (GRCm39)	D131G	probably damaging	Het
Fam149b	C	T	14: 20,427,985 (GRCm39)	R424C	probably damaging	Het
Fbln2	G	A	6: 91,240,335 (GRCm39)	V714M	probably damaging	Het
Fgf5	T	C	5: 98,423,385 (GRCm39)	Y257H	probably damaging	Het
Fmo3	A	C	1: 162,791,605 (GRCm39)	V224G	probably damaging	Het
Gigyf2	T	C	1: 87,338,450 (GRCm39)	I394T	possibly damaging	Het
Glmn	T	A	5: 107,741,746 (GRCm39)		probably null	Het
Greb1l	T	C	18: 10,501,025 (GRCm39)	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,658,449 (GRCm39)	Q365K	probably benign	Het
Gsdme	G	A	6: 50,206,306 (GRCm39)	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 89,018,962 (GRCm39)	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Il5ra	G	A	6: 106,718,226 (GRCm39)	T76I	probably damaging	Het
Itga8	T	C	2: 12,196,525 (GRCm39)	T631A	probably benign	Het
Kcnh6	G	A	11: 105,909,978 (GRCm39)		probably null	Het
Krt26	C	T	11: 99,224,415 (GRCm39)	E368K	probably benign	Het
Lhx9	T	C	1: 138,766,281 (GRCm39)	D169G	possibly damaging	Het
Lmod3	A	G	6: 97,224,234 (GRCm39)	L529P	probably damaging	Het
Nup155	A	G	15: 8,173,577 (GRCm39)	T891A	probably benign	Het
Or11g24	A	G	14: 50,661,984 (GRCm39)	T3A	probably benign	Het
Or1e1	T	C	11: 73,244,582 (GRCm39)	M1T	probably null	Het
Or1j13	T	A	2: 36,369,996 (GRCm39)	I49F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,285 (GRCm39)	*145R	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	C	12: 83,821,454 (GRCm39)	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,423,435 (GRCm39)	V160I	probably benign	Het
Pde8b	A	G	13: 95,164,105 (GRCm39)		probably benign	Het
Ppme1	G	A	7: 100,004,002 (GRCm39)	R68*	probably null	Het
Prob1	T	C	18: 35,787,835 (GRCm39)	S140G	probably benign	Het
Ptprn2	A	T	12: 117,219,215 (GRCm39)	N949Y	probably damaging	Het
Qser1	C	A	2: 104,617,468 (GRCm39)	D1115Y	probably damaging	Het
Rad54l	G	T	4: 115,954,666 (GRCm39)	D674E	probably damaging	Het
Ripk4	T	A	16: 97,545,387 (GRCm39)	D420V	probably damaging	Het
Ros1	G	T	10: 51,954,067 (GRCm39)	S1857R	probably benign	Het
Rsf1	A	G	7: 97,311,316 (GRCm39)	E682G	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Samd4	G	A	14: 47,325,329 (GRCm39)	R515H	probably damaging	Het
Selp	T	A	1: 163,969,079 (GRCm39)	W560R	probably benign	Het
Shc3	A	T	13: 51,615,468 (GRCm39)	L163Q	probably damaging	Het
Shh	G	A	5: 28,666,397 (GRCm39)	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,427,937 (GRCm39)	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,206,168 (GRCm39)		probably benign	Het
Smarcd2	A	G	11: 106,157,715 (GRCm39)		probably null	Het
Sytl3	A	G	17: 6,995,664 (GRCm39)	D148G	probably damaging	Het
Tnks	G	T	8: 35,385,615 (GRCm39)	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,179,568 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,806,161 (GRCm39)	F268L	probably benign	Het
Ugt2b5	T	C	5: 87,287,541 (GRCm39)	I209V	probably benign	Het
Usp1	A	G	4: 98,818,082 (GRCm39)	N140S	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,094,534 (GRCm39)	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,990,202 (GRCm39)	N163Y	probably benign	Het
Vmn1r85	A	G	7: 12,818,854 (GRCm39)	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,337,350 (GRCm39)	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Wdr70	G	A	15: 7,916,830 (GRCm39)	T529I	possibly damaging	Het
Zfp532	T	G	18: 65,757,005 (GRCm39)	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,621,463 (GRCm39)	N901K	probably benign	Het

Other mutations in Arhgap39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:Arhgap39	APN	15	76,622,015 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CATGGTGCTGTAGTCTCCTGAC -3'
(R):5'- AGGAGCCTCCAGTGGAATAC -3'

Sequencing Primer
(F):5'- GTGCTGTAGTCTCCTGACCTGAC -3'
(R):5'- ACCAGGCCCCTATTTATGATGAG -3'

Posted On

2017-08-16