Mutagenetix > Incidental Mutation

Incidental Mutation 'R1951:Arhgap28'

217332

Institutional Source

Beutler Lab

Gene Symbol

Arhgap28

Ensembl Gene

ENSMUSG00000024043

Gene Name

Rho GTPase activating protein 28

Synonyms

MMRRC Submission

039965-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1951 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

68149708-68311115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68208336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 44 (A44V)

Ref Sequence

ENSEMBL: ENSMUSP00000130960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024840] [ENSMUST00000163865] [ENSMUST00000164647]

AlphaFold

Q8BN58

Predicted Effect

probably benign
Transcript: ENSMUST00000024840
AA Change: A94V

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

SMART Domains

Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: A94V

Domain	Start	End	E-Value	Type
low complexity region	63	76	N/A	INTRINSIC
RhoGAP	400	578	1.41e-34	SMART
Blast:RhoGAP	583	612	2e-7	BLAST
Blast:RhoGAP	640	681	9e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000163865
AA Change: A44V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: A44V

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
RhoGAP	350	527	7.1e-31	SMART
Blast:RhoGAP	532	561	1e-7	BLAST
Blast:RhoGAP	589	630	8e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000164647
AA Change: A44V

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

SMART Domains

Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: A44V

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
RhoGAP	350	528	1.41e-34	SMART
Blast:RhoGAP	533	562	1e-7	BLAST
Blast:RhoGAP	590	631	8e-6	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

98% (84/86)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal bone length and ossification. [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
Abca15	C	T	7: 119,960,655 (GRCm39)	R706C	probably damaging	Het
Adcy3	T	C	12: 4,258,624 (GRCm39)	F847S	probably benign	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Asap3	C	T	4: 135,954,767 (GRCm39)	R60*	probably null	Het
Baz1b	T	A	5: 135,245,593 (GRCm39)	N347K	probably benign	Het
Best2	T	A	8: 85,737,858 (GRCm39)	N179I	possibly damaging	Het
Bfar	C	T	16: 13,519,970 (GRCm39)	S276L	probably damaging	Het
Bloc1s3	A	G	7: 19,241,483 (GRCm39)	V15A	possibly damaging	Het
Borcs5	A	G	6: 134,687,230 (GRCm39)	H196R	unknown	Het
Calhm3	A	G	19: 47,140,256 (GRCm39)	L279P	probably benign	Het
Cand1	A	T	10: 119,043,925 (GRCm39)		probably benign	Het
Car15	T	C	16: 17,655,269 (GRCm39)	D57G	possibly damaging	Het
Casp12	G	A	9: 5,348,959 (GRCm39)		probably null	Het
Cd93	T	C	2: 148,283,778 (GRCm39)	T523A	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckap5	A	G	2: 91,386,837 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,814,156 (GRCm39)	R619W	unknown	Het
Colec12	G	A	18: 9,859,975 (GRCm39)		probably null	Het
Crmp1	G	A	5: 37,430,699 (GRCm39)	V222I	possibly damaging	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Ctbp2	A	G	7: 132,616,756 (GRCm39)	S60P	probably benign	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dhx36	T	C	3: 62,391,694 (GRCm39)	I551V	probably damaging	Het
Dlg5	T	A	14: 24,206,537 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 71,068,306 (GRCm39)	I300F	probably damaging	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dnah6	T	A	6: 73,061,704 (GRCm39)	R2794*	probably null	Het
Fcgr1	G	A	3: 96,194,386 (GRCm39)	T167I	probably damaging	Het
Fgl1	G	T	8: 41,650,387 (GRCm39)	F187L	probably benign	Het
Fras1	T	A	5: 96,860,242 (GRCm39)	V2096E	probably benign	Het
Gm10647	A	G	9: 66,705,762 (GRCm39)		probably benign	Het
Gm14226	G	A	2: 154,866,255 (GRCm39)	D71N	possibly damaging	Het
Grip2	A	T	6: 91,760,829 (GRCm39)	I284N	probably damaging	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Ift70b	A	G	2: 75,767,586 (GRCm39)	L389P	probably damaging	Het
Irx5	A	G	8: 93,086,438 (GRCm39)	N174D	probably damaging	Het
Itgal	A	G	7: 126,929,317 (GRCm39)	D1078G	probably damaging	Het
Khdc3	T	C	9: 73,010,519 (GRCm39)	V123A	possibly damaging	Het
Klhl13	A	G	X: 23,127,820 (GRCm39)		probably benign	Het
Klhl42	T	C	6: 146,993,321 (GRCm39)	S98P	probably damaging	Het
Lrp5	T	C	19: 3,670,298 (GRCm39)	N602S	possibly damaging	Het
Lrrd1	A	T	5: 3,901,488 (GRCm39)	I598F	probably damaging	Het
Ltbp1	A	G	17: 75,458,372 (GRCm39)	T318A	probably benign	Het
Mfsd6	A	G	1: 52,748,517 (GRCm39)	F116S	probably damaging	Het
Ncam1	T	C	9: 49,456,492 (GRCm39)	I486V	probably benign	Het
Nptx1	A	G	11: 119,434,006 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,408,221 (GRCm39)	Y4C	probably damaging	Het
Nsf	G	A	11: 103,773,702 (GRCm39)	R271*	probably null	Het
Or5d39	A	G	2: 87,979,641 (GRCm39)	S241P	possibly damaging	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8k18	G	C	2: 86,085,440 (GRCm39)	T199S	probably benign	Het
Or8k21	T	A	2: 86,145,504 (GRCm39)	N42I	probably damaging	Het
Or8k24	A	T	2: 86,215,855 (GRCm39)	H302Q	probably benign	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pdia4	A	G	6: 47,780,813 (GRCm39)	Y212H	probably damaging	Het
Pgr	A	G	9: 8,946,954 (GRCm39)		probably benign	Het
Pitpnm3	G	T	11: 71,965,450 (GRCm39)	H112N	possibly damaging	Het
Ppargc1b	G	T	18: 61,431,848 (GRCm39)	T1000K	possibly damaging	Het
Psd3	C	A	8: 68,416,139 (GRCm39)	C586F	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Rabep2	A	T	7: 126,037,736 (GRCm39)	R169S	possibly damaging	Het
Rad21l	T	C	2: 151,497,179 (GRCm39)	R309G	probably benign	Het
Rbm12	T	C	2: 155,939,133 (GRCm39)	R380G	probably damaging	Het
Selp	A	G	1: 163,954,081 (GRCm39)	N127S	probably benign	Het
Slc12a2	A	G	18: 58,012,467 (GRCm39)	T197A	possibly damaging	Het
Slc22a18	C	T	7: 143,029,984 (GRCm39)	T17I	probably damaging	Het
Sptbn4	T	C	7: 27,065,868 (GRCm39)	E2026G	possibly damaging	Het
Srf	A	T	17: 46,862,633 (GRCm39)	M285K	possibly damaging	Het
Tanc1	T	C	2: 59,622,156 (GRCm39)	V425A	possibly damaging	Het
Tle4	A	T	19: 14,493,721 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,335,908 (GRCm39)	R905G	possibly damaging	Het
Tmem200c	A	T	17: 69,147,983 (GRCm39)	I189F	probably damaging	Het
Trappc13	T	C	13: 104,311,150 (GRCm39)	Q87R	probably benign	Het
Trpm7	A	T	2: 126,673,219 (GRCm39)	D511E	probably damaging	Het
Ttn	A	T	2: 76,632,634 (GRCm39)	I14140N	possibly damaging	Het
Virma	A	G	4: 11,513,907 (GRCm39)	D587G	probably benign	Het
Vmn1r72	A	G	7: 11,403,731 (GRCm39)	L239P	probably damaging	Het
Vmn2r68	A	G	7: 84,883,102 (GRCm39)	F217L	probably damaging	Het
Vps13c	T	C	9: 67,881,041 (GRCm39)		probably null	Het
Vrtn	T	C	12: 84,695,973 (GRCm39)	V241A	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zranb3	A	T	1: 127,927,136 (GRCm39)	V343D	probably damaging	Het

Other mutations in Arhgap28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Arhgap28	APN	17	68,152,796 (GRCm39)	missense	probably damaging	1.00
IGL01388:Arhgap28	APN	17	68,160,034 (GRCm39)	unclassified	probably benign
IGL01560:Arhgap28	APN	17	68,203,066 (GRCm39)	missense	probably damaging	1.00
IGL01578:Arhgap28	APN	17	68,165,195 (GRCm39)	missense	probably benign	0.00
IGL01650:Arhgap28	APN	17	68,180,127 (GRCm39)	missense	probably damaging	0.97
IGL02383:Arhgap28	APN	17	68,203,084 (GRCm39)	missense	probably benign	0.00
IGL02403:Arhgap28	APN	17	68,180,154 (GRCm39)	missense	possibly damaging	0.87
IGL02652:Arhgap28	APN	17	68,191,795 (GRCm39)	missense	probably benign	0.00
IGL03102:Arhgap28	APN	17	68,203,231 (GRCm39)	missense	probably damaging	1.00
IGL03209:Arhgap28	APN	17	68,175,951 (GRCm39)	missense	probably damaging	1.00
IGL03306:Arhgap28	APN	17	68,159,930 (GRCm39)	missense	probably damaging	1.00
K3955:Arhgap28	UTSW	17	68,311,001 (GRCm39)	missense	probably damaging	0.98
PIT4445001:Arhgap28	UTSW	17	68,203,230 (GRCm39)	missense	possibly damaging	0.94
R0135:Arhgap28	UTSW	17	68,171,583 (GRCm39)	missense	probably damaging	1.00
R0309:Arhgap28	UTSW	17	68,208,424 (GRCm39)	missense	probably benign	0.13
R0385:Arhgap28	UTSW	17	68,171,601 (GRCm39)	missense	probably damaging	1.00
R0412:Arhgap28	UTSW	17	68,203,253 (GRCm39)	missense	probably damaging	1.00
R0463:Arhgap28	UTSW	17	68,203,220 (GRCm39)	missense	probably damaging	1.00
R0626:Arhgap28	UTSW	17	68,203,108 (GRCm39)	splice site	probably null
R0691:Arhgap28	UTSW	17	68,203,159 (GRCm39)	splice site	probably null
R0811:Arhgap28	UTSW	17	68,208,294 (GRCm39)	small deletion	probably benign
R1150:Arhgap28	UTSW	17	68,164,459 (GRCm39)	missense	probably damaging	1.00
R1151:Arhgap28	UTSW	17	68,164,459 (GRCm39)	missense	probably damaging	1.00
R1152:Arhgap28	UTSW	17	68,164,459 (GRCm39)	missense	probably damaging	1.00
R1426:Arhgap28	UTSW	17	68,164,459 (GRCm39)	missense	probably damaging	1.00
R1427:Arhgap28	UTSW	17	68,164,459 (GRCm39)	missense	probably damaging	1.00
R1632:Arhgap28	UTSW	17	68,156,069 (GRCm39)	missense	probably damaging	0.99
R1747:Arhgap28	UTSW	17	68,208,304 (GRCm39)	missense	probably benign	0.02
R2031:Arhgap28	UTSW	17	68,203,111 (GRCm39)	missense	probably damaging	1.00
R2126:Arhgap28	UTSW	17	68,176,010 (GRCm39)	missense	possibly damaging	0.90
R2181:Arhgap28	UTSW	17	68,203,112 (GRCm39)	missense	probably damaging	1.00
R3700:Arhgap28	UTSW	17	68,208,361 (GRCm39)	missense	probably damaging	1.00
R3800:Arhgap28	UTSW	17	68,180,031 (GRCm39)	missense	probably damaging	1.00
R3811:Arhgap28	UTSW	17	68,203,088 (GRCm39)	missense	probably benign
R4213:Arhgap28	UTSW	17	68,178,988 (GRCm39)	missense	probably benign	0.04
R4347:Arhgap28	UTSW	17	68,180,137 (GRCm39)	missense	probably benign
R4954:Arhgap28	UTSW	17	68,176,008 (GRCm39)	nonsense	probably null
R5592:Arhgap28	UTSW	17	68,165,267 (GRCm39)	missense	probably damaging	0.99
R5610:Arhgap28	UTSW	17	68,203,235 (GRCm39)	nonsense	probably null
R5758:Arhgap28	UTSW	17	68,180,154 (GRCm39)	missense	probably benign	0.04
R5774:Arhgap28	UTSW	17	68,188,487 (GRCm39)	missense	possibly damaging	0.94
R6413:Arhgap28	UTSW	17	68,182,583 (GRCm39)	missense	probably benign	0.00
R6661:Arhgap28	UTSW	17	68,152,746 (GRCm39)	missense	probably damaging	1.00
R7255:Arhgap28	UTSW	17	68,159,999 (GRCm39)	missense	probably damaging	0.99
R7324:Arhgap28	UTSW	17	68,202,879 (GRCm39)	splice site	probably null
R7338:Arhgap28	UTSW	17	68,203,106 (GRCm39)	missense	probably damaging	1.00
R7549:Arhgap28	UTSW	17	68,178,961 (GRCm39)	missense	probably damaging	1.00
R7860:Arhgap28	UTSW	17	68,208,277 (GRCm39)	nonsense	probably null
R8516:Arhgap28	UTSW	17	68,180,068 (GRCm39)	missense	probably benign	0.08
R9210:Arhgap28	UTSW	17	68,162,430 (GRCm39)	missense	probably benign	0.00
R9212:Arhgap28	UTSW	17	68,162,430 (GRCm39)	missense	probably benign	0.00
R9779:Arhgap28	UTSW	17	68,152,764 (GRCm39)	missense	probably benign	0.00
Z1088:Arhgap28	UTSW	17	68,168,272 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CAGGCCCAGTCTGTTTGAAG -3'
(R):5'- TTTACACAGGCACCCAGTTTC -3'

Sequencing Primer
(F):5'- GCCCAGTCTGTTTGAAGAAAAAG -3'
(R):5'- GGCACCCAGTTTCATTCAAATG -3'

Posted On

2014-08-01