Mutagenetix > Incidental Mutation

Incidental Mutation 'R8071:Arhgap39'

628939

Institutional Source

Beutler Lab

Gene Symbol

Arhgap39

Ensembl Gene

ENSMUSG00000033697

Gene Name

Rho GTPase activating protein 39

Synonyms

D15Wsu169e

MMRRC Submission

067506-MU

Accession Numbers

Essential gene?

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

Stock #

R8071 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76608183-76702366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76621702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 300 (S300P)

Ref Sequence

ENSEMBL: ENSMUSP00000076993 (fasta)

Gene Model

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

AlphaFold

P59281

Predicted Effect

probably benign
Transcript: ENSMUST00000036176
AA Change: S300P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
AA Change: S300P

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
AA Change: S300P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
AA Change: S300P

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.8%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	T	C	5: 115,251,226 (GRCm39)	E86G	probably benign	Het
Agmo	A	G	12: 37,448,728 (GRCm39)	T217A	probably damaging	Het
Casp12	T	C	9: 5,346,647 (GRCm39)	L58P	probably damaging	Het
Ccar2	T	C	14: 70,389,902 (GRCm39)	T24A	probably benign	Het
Ccndbp1	C	A	2: 120,845,046 (GRCm39)	T321K	unknown	Het
Cd200r3	G	A	16: 44,774,503 (GRCm39)	C172Y	probably damaging	Het
Chd2	T	A	7: 73,187,132 (GRCm39)	H9L	probably benign	Het
Cracdl	C	A	1: 37,663,010 (GRCm39)	E963*	probably null	Het
Cramp1	T	A	17: 25,201,674 (GRCm39)	S603C	probably damaging	Het
Crtac1	C	T	19: 42,286,239 (GRCm39)	R448H	probably damaging	Het
Csmd2	A	T	4: 128,287,331 (GRCm39)	Y1022F		Het
Ctns	T	C	11: 73,075,760 (GRCm39)	Y363C	probably damaging	Het
D630044L22Rik	A	G	17: 26,179,118 (GRCm39)	T15A	possibly damaging	Het
Dhx38	A	C	8: 110,285,333 (GRCm39)	I444M	probably benign	Het
Dnah14	A	T	1: 181,443,459 (GRCm39)	I450F	possibly damaging	Het
Dpf1	T	C	7: 29,013,566 (GRCm39)	F245L	probably benign	Het
Efr3b	A	G	12: 4,032,898 (GRCm39)	V269A	probably benign	Het
Eprs1	G	T	1: 185,126,653 (GRCm39)	V530L	possibly damaging	Het
Eps8l2	A	G	7: 140,922,860 (GRCm39)	N41S	probably damaging	Het
Erbb4	T	C	1: 68,435,470 (GRCm39)	I142M	probably damaging	Het
Fhip1a	T	C	3: 85,637,868 (GRCm39)	M144V	probably damaging	Het
Flnc	A	T	6: 29,457,445 (GRCm39)	D2381V	probably damaging	Het
Fndc1	T	A	17: 7,991,362 (GRCm39)	D778V	unknown	Het
Galnt3	A	G	2: 65,921,555 (GRCm39)	I492T	probably benign	Het
Gigyf2	T	C	1: 87,374,155 (GRCm39)	M1261T	probably damaging	Het
Haus8	A	G	8: 71,708,695 (GRCm39)	F126S	probably benign	Het
Hif3a	A	G	7: 16,782,686 (GRCm39)	L293S	probably damaging	Het
Ino80c	G	A	18: 24,239,707 (GRCm39)	T200I	unknown	Het
Jag1	T	A	2: 136,943,717 (GRCm39)	M160L	probably benign	Het
Kcnj12	C	A	11: 60,960,825 (GRCm39)	H374Q	probably damaging	Het
Lrrc27	A	G	7: 138,816,902 (GRCm39)	I433M	probably benign	Het
Lyzl4	C	T	9: 121,407,160 (GRCm39)	W123*	probably null	Het
Map2k4	A	T	11: 65,597,827 (GRCm39)	C264S		Het
Mmrn1	C	T	6: 60,921,508 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,850,631 (GRCm39)	T709I	probably benign	Het
Myo9a	T	A	9: 59,781,931 (GRCm39)	W1706R	probably benign	Het
Nlrp5	A	G	7: 23,117,869 (GRCm39)	E531G	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Pcdhb11	A	C	18: 37,555,422 (GRCm39)	I251L	probably benign	Het
Per3	A	G	4: 151,113,270 (GRCm39)	S353P	probably damaging	Het
Piezo1	T	C	8: 123,213,750 (GRCm39)	E1738G	probably null	Het
Prr14l	T	C	5: 32,988,508 (GRCm39)	D329G	probably benign	Het
Ptpn23	G	T	9: 110,217,267 (GRCm39)	P863Q	probably damaging	Het
Ptpn23	G	T	9: 110,217,268 (GRCm39)	P863T	possibly damaging	Het
Ptprq	T	C	10: 107,479,896 (GRCm39)	K1125E	possibly damaging	Het
Rapgef2	T	G	3: 79,000,343 (GRCm39)	T351P	probably damaging	Het
Rbl2	A	G	8: 91,840,617 (GRCm39)	Y923C	probably damaging	Het
Rimbp3	T	C	16: 17,028,727 (GRCm39)	V717A	probably benign	Het
Rims1	C	T	1: 22,358,760 (GRCm39)	W182*	probably null	Het
Rnmt	A	G	18: 68,440,723 (GRCm39)	K129E	probably benign	Het
Ruvbl1	T	C	6: 88,450,108 (GRCm39)	F93S	probably damaging	Het
Scamp5	T	C	9: 57,350,969 (GRCm39)	Y231C	probably damaging	Het
Sfxn5	T	A	6: 85,244,921 (GRCm39)		probably null	Het
Skic2	A	T	17: 35,068,975 (GRCm39)	V8D	probably benign	Het
Slc12a1	T	C	2: 125,028,234 (GRCm39)	F510S	probably damaging	Het
Sowahb	T	C	5: 93,190,922 (GRCm39)	Y599C	probably damaging	Het
Speer4e1	T	C	5: 14,987,111 (GRCm39)	N98S	probably damaging	Het
Stat3	T	C	11: 100,784,807 (GRCm39)	N553S	probably benign	Het
Sult6b2	A	T	6: 142,735,868 (GRCm39)	L242Q	probably damaging	Het
Tacc3	C	T	5: 33,821,169 (GRCm39)	R98W	possibly damaging	Het
Tuba4a	C	T	1: 75,193,595 (GRCm39)	R112H		Het
Ubr3	T	A	2: 69,819,220 (GRCm39)	S1337T	probably damaging	Het
Vmn2r69	A	T	7: 85,055,713 (GRCm39)	C808*	probably null	Het
Wnt16	G	A	6: 22,288,997 (GRCm39)	A105T	probably benign	Het
Zfp692	C	T	11: 58,198,560 (GRCm39)	S50L	probably damaging	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
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
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'- CAGGAATGGATGGGGCTTTC -3'
(R):5'- ATGCTCATCAAGGTTGCCGAC -3'

Sequencing Primer
(F):5'- GCTTTCGGCCTGGGGAC -3'
(R):5'- GCAATGGCTATCCCGCAGAC -3'

Posted On

2020-06-30