Mutagenetix > Incidental Mutation

Incidental Mutation 'R1427:Arhgap28'

161370

Institutional Source

Beutler Lab

Gene Symbol

Arhgap28

Ensembl Gene

ENSMUSG00000024043

Gene Name

Rho GTPase activating protein 28

Synonyms

MMRRC Submission

039483-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1427 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68149708-68311115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68164459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 554 (Q554H)

Ref Sequence

ENSEMBL: ENSMUSP00000128194 (fasta)

Gene Model

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

AlphaFold

Q8BN58

Predicted Effect

probably damaging
Transcript: ENSMUST00000024840
AA Change: Q604H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: Q604H

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 damaging
Transcript: ENSMUST00000163865
AA Change: Q553H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: Q553H

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 damaging
Transcript: ENSMUST00000164647
AA Change: Q554H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: Q554H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170813

SMART Domains

Protein: ENSMUSP00000132087
Gene: ENSMUSG00000024043

Domain	Start	End	E-Value	Type
RhoGAP	87	208	7.57e-4	SMART

Meta Mutation Damage Score

0.1403

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.4%

Validation Efficiency

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	G	4: 144,349,610 (GRCm39)	N289S	probably damaging	Het
Abhd12b	A	G	12: 70,229,193 (GRCm39)	D223G	probably damaging	Het
Agap3	A	G	5: 24,681,691 (GRCm39)	T333A	probably benign	Het
Clcnkb	A	G	4: 141,132,620 (GRCm39)	L603P	probably damaging	Het
Dchs1	T	C	7: 105,415,398 (GRCm39)	D626G	probably benign	Het
Eml3	T	C	19: 8,911,225 (GRCm39)	Y285H	probably damaging	Het
Ganab	A	G	19: 8,893,030 (GRCm39)	T945A	probably benign	Het
Iars1	A	T	13: 49,857,745 (GRCm39)		probably null	Het
Kalrn	A	G	16: 33,796,124 (GRCm39)	F1217S	probably damaging	Het
Lipf	T	C	19: 33,943,000 (GRCm39)	F103L	probably damaging	Het
Lpar2	C	A	8: 70,276,700 (GRCm39)	A163E	possibly damaging	Het
Myh1	T	C	11: 67,110,573 (GRCm39)	Y1495H	probably damaging	Het
Or5p63	A	G	7: 107,811,301 (GRCm39)	I145T	probably benign	Het
Ppp3ca	T	A	3: 136,627,675 (GRCm39)	L413H	probably damaging	Het
Ptpn7	T	C	1: 135,062,192 (GRCm39)	V46A	possibly damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Sec23ip	C	T	7: 128,378,609 (GRCm39)	R808C	probably damaging	Het
Slc25a26	T	C	6: 94,487,828 (GRCm39)	S96P	probably damaging	Het
Stard13	G	A	5: 150,969,456 (GRCm39)	R898W	probably damaging	Het
Tenm4	T	C	7: 96,492,255 (GRCm39)	V1063A	probably benign	Het
Tm6sf2	T	G	8: 70,528,232 (GRCm39)	M127R	probably damaging	Het
Ttn	A	T	2: 76,583,448 (GRCm39)	W22482R	probably damaging	Het
Zfp384	T	C	6: 125,001,847 (GRCm39)	L109P	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
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
R1951:Arhgap28	UTSW	17	68,208,336 (GRCm39)	missense	probably benign	0.00
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'- TGCCTGTAAGCCACTATAAGGGCAT -3'
(R):5'- AATGAGGGCAGAAGCCGCGTTT -3'

Sequencing Primer
(F):5'- CATGAGACTGACATTTCAAGGAC -3'
(R):5'- CAGAAGCCGCGTTTCTATAAG -3'

Posted On

2014-03-14