Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Arhgap39'

45194

Institutional Source

Beutler Lab

Gene Symbol

Arhgap39

Ensembl Gene

ENSMUSG00000033697

Gene Name

Rho GTPase activating protein 39

Synonyms

D15Wsu169e

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

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

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76608183-76702366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76619086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 833 (D833N)

Ref Sequence

ENSEMBL: ENSMUSP00000076993 (fasta)

Gene Model

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

AlphaFold

P59281

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036176
AA Change: D833N

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
AA Change: D833N

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 damaging
Transcript: ENSMUST00000077821
AA Change: D833N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
AA Change: D833N

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

0.1155

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,598 (GRCm39)	T456S	probably benign	Het
Acmsd	A	T	1: 127,694,070 (GRCm39)	K333N	probably benign	Het
Adcy2	T	A	13: 68,944,658 (GRCm39)	K241N	probably damaging	Het
Aebp1	A	G	11: 5,817,955 (GRCm39)	I77V	probably benign	Het
Albfm1	C	T	5: 90,720,578 (GRCm39)	P250S	probably damaging	Het
Ankrd35	A	G	3: 96,591,276 (GRCm39)	T521A	probably benign	Het
Arap2	C	T	5: 62,798,666 (GRCm39)		probably null	Het
Arfgap3	A	T	15: 83,227,338 (GRCm39)	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,737,125 (GRCm39)		probably benign	Het
Auts2	T	C	5: 131,469,307 (GRCm39)	E446G	possibly damaging	Het
Brwd1	C	T	16: 95,837,174 (GRCm39)	R886H	probably damaging	Het
Carm1	G	A	9: 21,491,787 (GRCm39)		probably null	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cfap54	A	T	10: 92,860,984 (GRCm39)	M841K	probably benign	Het
Clca4b	T	A	3: 144,634,387 (GRCm39)	T69S	probably damaging	Het
Cpox	A	G	16: 58,495,753 (GRCm39)	I357V	probably benign	Het
Diaph3	C	A	14: 87,147,536 (GRCm39)	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,567,904 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,651,905 (GRCm39)		probably benign	Het
Fcho1	A	G	8: 72,164,818 (GRCm39)	S488P	probably benign	Het
Flcn	A	G	11: 59,686,574 (GRCm39)		probably null	Het
Flt3l	A	G	7: 44,781,690 (GRCm39)	W234R	probably damaging	Het
Fzd7	G	T	1: 59,522,443 (GRCm39)	V109L	probably damaging	Het
G3bp1	A	G	11: 55,379,969 (GRCm39)	N101S	probably benign	Het
Gadd45g	A	G	13: 52,001,963 (GRCm39)	E143G	probably damaging	Het
Ganab	T	G	19: 8,884,644 (GRCm39)	I149S	probably benign	Het
Garnl3	A	G	2: 32,906,750 (GRCm39)	S413P	probably damaging	Het
Glis1	C	T	4: 107,425,316 (GRCm39)		probably null	Het
Gm11563	A	G	11: 99,549,539 (GRCm39)	S72P	unknown	Het
Gpd1	T	G	15: 99,618,510 (GRCm39)	I188S	possibly damaging	Het
Gria2	A	G	3: 80,639,333 (GRCm39)		probably benign	Het
Hpcal4	G	T	4: 123,082,848 (GRCm39)	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,236,089 (GRCm39)	T1364I	probably benign	Het
Kdm4a	T	C	4: 117,995,428 (GRCm39)	*1065W	probably null	Het
Klkb1	A	G	8: 45,731,003 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,557,951 (GRCm39)	D147G	probably damaging	Het
Lrp1	A	G	10: 127,407,827 (GRCm39)	S1821P	probably benign	Het
Macroh2a2	A	G	10: 61,576,945 (GRCm39)	S308P	probably damaging	Het
Manba	T	C	3: 135,223,734 (GRCm39)	I207T	probably damaging	Het
Mark3	T	A	12: 111,600,068 (GRCm39)	S428T	probably benign	Het
Mfsd4a	G	A	1: 131,969,657 (GRCm39)	T348I	probably damaging	Het
Mybbp1a	A	G	11: 72,339,202 (GRCm39)	M880V	probably benign	Het
N4bp2	T	A	5: 65,977,684 (GRCm39)		probably null	Het
Nrdc	T	G	4: 108,904,905 (GRCm39)	I712S	probably damaging	Het
Nup210	G	A	6: 90,998,466 (GRCm39)	R774C	possibly damaging	Het
Obscn	G	A	11: 58,998,688 (GRCm39)	R1395*	probably null	Het
Or5b102	T	A	19: 13,041,658 (GRCm39)	D294E	probably benign	Het
Pcdh7	T	C	5: 57,879,336 (GRCm39)	Y964H	probably damaging	Het
Pgap6	C	A	17: 26,339,576 (GRCm39)	Q605K	probably damaging	Het
Plin4	T	C	17: 56,413,756 (GRCm39)	T290A	probably benign	Het
Ppara	T	C	15: 85,671,306 (GRCm39)		probably benign	Het
Psg21	T	G	7: 18,386,565 (GRCm39)		probably null	Het
Ptar1	C	A	19: 23,697,704 (GRCm39)	N405K	probably benign	Het
Ralgps2	A	G	1: 156,660,233 (GRCm39)		probably null	Het
Rnf6	T	A	5: 146,148,205 (GRCm39)	N271I	possibly damaging	Het
Sis	T	C	3: 72,832,740 (GRCm39)	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,329,688 (GRCm39)		probably benign	Het
Slc49a3	A	G	5: 108,592,331 (GRCm39)		probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Sntg1	C	A	1: 8,624,960 (GRCm39)	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,300,260 (GRCm39)	E567D	probably damaging	Het
Sp110	C	A	1: 85,516,821 (GRCm39)		probably benign	Het
Ssu2	A	G	6: 112,357,515 (GRCm39)	V175A	possibly damaging	Het
Stk36	G	A	1: 74,655,780 (GRCm39)	E428K	probably benign	Het
Teddm1b	A	T	1: 153,751,090 (GRCm39)	I300F	possibly damaging	Het
Thy1	T	C	9: 43,958,645 (GRCm39)	V129A	probably damaging	Het
Tiam2	T	A	17: 3,479,229 (GRCm39)	M654K	probably damaging	Het
Tmem69	T	C	4: 116,410,470 (GRCm39)	S167G	probably benign	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tspan10	A	G	11: 120,335,244 (GRCm39)	D118G	probably damaging	Het
Tspo2	A	G	17: 48,755,841 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,738,672 (GRCm39)	Q4002*	probably null	Het
Tyro3	G	A	2: 119,647,385 (GRCm39)	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 87,073,943 (GRCm39)	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,048,524 (GRCm39)	I200F	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
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

Predicted Primers

PCR Primer
(F):5'- AGGTTCTCTGAGGCTACAAGGCAG -3'
(R):5'- AGCAGTGAGTCCATCAAGAAGCCC -3'

Sequencing Primer
(F):5'- CAGAGGAAACTAGGCTTTGGG -3'
(R):5'- ATTGTGACTAGTGACCGGCAC -3'

Posted On

2013-06-11