Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03352:Arhgap45'

419758

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap45

Ensembl Gene

ENSMUSG00000035697

Gene Name

Rho GTPase activating protein 45

Synonyms

6330406L22Rik, Hmha1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03352

Quality Score

Status

Chromosome

Chromosomal Location

79852505-79867305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79866585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1029 (N1029K)

Ref Sequence

ENSEMBL: ENSMUSP00000101012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043311] [ENSMUST00000099501] [ENSMUST00000105373]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043311
AA Change: N902K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: N902K

Domain	Start	End	E-Value	Type
low complexity region	142	153	N/A	INTRINSIC
FCH	157	244	4.14e-17	SMART
low complexity region	255	269	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC
low complexity region	330	345	N/A	INTRINSIC
low complexity region	527	536	N/A	INTRINSIC
C1	582	628	3.15e-8	SMART
RhoGAP	653	852	2.73e-73	SMART
low complexity region	856	869	N/A	INTRINSIC
Blast:RhoGAP	876	999	1e-21	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000099501
AA Change: N1018K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: N1018K

Domain	Start	End	E-Value	Type
low complexity region	258	269	N/A	INTRINSIC
FCH	273	360	4.14e-17	SMART
low complexity region	371	385	N/A	INTRINSIC
low complexity region	425	440	N/A	INTRINSIC
low complexity region	446	461	N/A	INTRINSIC
low complexity region	643	652	N/A	INTRINSIC
C1	698	744	3.15e-8	SMART
RhoGAP	769	968	2.73e-73	SMART
low complexity region	972	985	N/A	INTRINSIC
Blast:RhoGAP	992	1115	1e-21	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000105373
AA Change: N1029K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: N1029K

Domain	Start	End	E-Value	Type
low complexity region	269	280	N/A	INTRINSIC
FCH	284	371	4.14e-17	SMART
low complexity region	382	396	N/A	INTRINSIC
low complexity region	436	451	N/A	INTRINSIC
low complexity region	457	472	N/A	INTRINSIC
low complexity region	654	663	N/A	INTRINSIC
C1	709	755	3.15e-8	SMART
RhoGAP	780	979	2.73e-73	SMART
low complexity region	983	996	N/A	INTRINSIC
Blast:RhoGAP	1003	1126	1e-21	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150022

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoah	A	G	13: 21,184,213 (GRCm39)	S426G	probably benign	Het
Arap3	T	C	18: 38,114,355 (GRCm39)		probably benign	Het
Arhgef10l	A	T	4: 140,311,242 (GRCm39)	M1K	probably null	Het
Bloc1s6	T	C	2: 122,584,638 (GRCm39)	L71P	probably damaging	Het
Ccer1	G	T	10: 97,529,439 (GRCm39)	R34M	unknown	Het
Cd44	T	C	2: 102,675,759 (GRCm39)		probably benign	Het
Col17a1	T	C	19: 47,669,814 (GRCm39)		probably null	Het
Cspp1	A	G	1: 10,117,662 (GRCm39)	E38G	possibly damaging	Het
Dock10	A	T	1: 80,584,013 (GRCm39)		probably benign	Het
Dsg3	A	T	18: 20,660,689 (GRCm39)	M343L	probably benign	Het
Eif3l	G	A	15: 78,961,251 (GRCm39)		probably benign	Het
Fcrl1	T	C	3: 87,292,398 (GRCm39)	L150P	probably benign	Het
Flg2	T	G	3: 93,109,801 (GRCm39)	S610A	unknown	Het
Grin3b	C	T	10: 79,809,615 (GRCm39)	R374C	probably damaging	Het
H2-Oa	A	T	17: 34,313,377 (GRCm39)	I143F	probably damaging	Het
Itgae	C	T	11: 73,022,556 (GRCm39)	P924S	probably damaging	Het
Itpr2	T	A	6: 146,058,602 (GRCm39)	D2521V	probably damaging	Het
Itprid2	T	A	2: 79,475,445 (GRCm39)	M468K	probably damaging	Het
Laptm4a	G	A	12: 8,981,719 (GRCm39)	G143D	probably benign	Het
Lrp6	T	C	6: 134,456,726 (GRCm39)	Y846C	probably damaging	Het
Mcm10	A	T	2: 4,999,407 (GRCm39)	S749T	probably damaging	Het
Nemf	T	C	12: 69,378,679 (GRCm39)	N548D	probably damaging	Het
Nlrp4e	T	A	7: 23,020,251 (GRCm39)	L246Q	probably damaging	Het
Nsun6	A	T	2: 15,001,157 (GRCm39)	C466*	probably null	Het
Olfm2	T	C	9: 20,580,019 (GRCm39)	D252G	probably damaging	Het
Or10j5	A	C	1: 172,784,850 (GRCm39)	M163L	probably benign	Het
Or14j9	T	A	17: 37,874,681 (GRCm39)	I174F	probably damaging	Het
Or2h1	G	A	17: 37,404,311 (GRCm39)	L152F	probably benign	Het
Or9i14	T	C	19: 13,792,292 (GRCm39)	I221V	probably damaging	Het
Pcdhb14	C	T	18: 37,582,057 (GRCm39)	R388C	possibly damaging	Het
Piwil1	C	T	5: 128,828,136 (GRCm39)	T712I	probably benign	Het
Piwil4	G	T	9: 14,637,183 (GRCm39)	T377K	probably damaging	Het
Prg3	T	C	2: 84,823,370 (GRCm39)	F182L	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Retsat	T	C	6: 72,575,666 (GRCm39)	V19A	probably damaging	Het
Rpl21-ps4	A	T	14: 11,227,760 (GRCm38)		noncoding transcript	Het
Sh3glb2	A	G	2: 30,235,363 (GRCm39)	V370A	probably damaging	Het
Skint4	G	T	4: 112,022,883 (GRCm39)	W459C	possibly damaging	Het
Slco1a1	T	A	6: 141,857,611 (GRCm39)	R573S	probably benign	Het
Smgc	T	C	15: 91,744,876 (GRCm39)	S694P	probably damaging	Het
Spaca6	A	G	17: 18,058,401 (GRCm39)	Y7C	probably damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Tepsin	C	T	11: 119,982,703 (GRCm39)	V456I	probably benign	Het
Tex261	C	T	6: 83,748,249 (GRCm39)	R171Q	possibly damaging	Het
Tmem184a	A	T	5: 139,798,755 (GRCm39)	F65I	probably damaging	Het
Tpm3	G	A	3: 89,995,052 (GRCm39)		probably null	Het
Tubgcp2	T	A	7: 139,580,940 (GRCm39)	H671L	probably benign	Het
Unc13b	T	G	4: 43,237,110 (GRCm39)	D3393E	possibly damaging	Het
Vcan	T	A	13: 89,853,125 (GRCm39)	M612L	probably benign	Het
Vmn1r180	C	A	7: 23,652,077 (GRCm39)	S80*	probably null	Het
Vmn1r64	C	T	7: 5,887,070 (GRCm39)	V158I	probably benign	Het
Vps13d	C	T	4: 144,894,072 (GRCm39)	V496I	possibly damaging	Het
Wee2	T	G	6: 40,429,589 (GRCm39)		probably null	Het
Zfp804b	T	C	5: 6,820,039 (GRCm39)	N972S	probably benign	Het

Other mutations in Arhgap45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01360:Arhgap45	APN	10	79,864,482 (GRCm39)	splice site	probably benign
IGL01414:Arhgap45	APN	10	79,862,938 (GRCm39)	missense	probably damaging	1.00
IGL01505:Arhgap45	APN	10	79,862,376 (GRCm39)	missense	probably benign	0.10
IGL02203:Arhgap45	APN	10	79,863,387 (GRCm39)	nonsense	probably null
IGL02557:Arhgap45	APN	10	79,857,472 (GRCm39)	missense	probably damaging	1.00
IGL02858:Arhgap45	APN	10	79,853,768 (GRCm39)	missense	probably benign	0.20
IGL03292:Arhgap45	APN	10	79,856,803 (GRCm39)	missense	probably benign	0.04
Celt	UTSW	10	79,856,652 (GRCm39)	missense	probably damaging	1.00
celtic	UTSW	10	79,863,423 (GRCm39)	nonsense	probably null
druid	UTSW	10	79,862,181 (GRCm39)	critical splice donor site	probably null
Mistletoe	UTSW	10	79,862,936 (GRCm39)	nonsense	probably null
Roman	UTSW	10	79,863,431 (GRCm39)	missense	probably damaging	1.00
stonehenge	UTSW	10	79,861,316 (GRCm39)	missense	possibly damaging	0.81
IGL03048:Arhgap45	UTSW	10	79,852,851 (GRCm39)	missense	probably damaging	0.99
PIT4677001:Arhgap45	UTSW	10	79,856,583 (GRCm39)	missense	probably benign
R0532:Arhgap45	UTSW	10	79,857,917 (GRCm39)	missense	possibly damaging	0.92
R1233:Arhgap45	UTSW	10	79,863,416 (GRCm39)	missense	probably damaging	1.00
R1579:Arhgap45	UTSW	10	79,864,811 (GRCm39)	missense	probably damaging	1.00
R1666:Arhgap45	UTSW	10	79,864,584 (GRCm39)	missense	possibly damaging	0.82
R1668:Arhgap45	UTSW	10	79,864,584 (GRCm39)	missense	possibly damaging	0.82
R1688:Arhgap45	UTSW	10	79,864,929 (GRCm39)	missense	probably damaging	1.00
R1710:Arhgap45	UTSW	10	79,853,932 (GRCm39)	nonsense	probably null
R1902:Arhgap45	UTSW	10	79,861,300 (GRCm39)	missense	probably damaging	0.99
R1912:Arhgap45	UTSW	10	79,856,524 (GRCm39)	missense	probably benign	0.08
R1935:Arhgap45	UTSW	10	79,866,788 (GRCm39)	missense	probably damaging	1.00
R1936:Arhgap45	UTSW	10	79,866,788 (GRCm39)	missense	probably damaging	1.00
R1955:Arhgap45	UTSW	10	79,862,326 (GRCm39)	missense	probably benign	0.15
R1968:Arhgap45	UTSW	10	79,863,536 (GRCm39)	missense	probably damaging	1.00
R1977:Arhgap45	UTSW	10	79,856,652 (GRCm39)	missense	probably damaging	1.00
R1986:Arhgap45	UTSW	10	79,856,530 (GRCm39)	missense	probably damaging	1.00
R2074:Arhgap45	UTSW	10	79,863,014 (GRCm39)	missense	probably damaging	1.00
R2081:Arhgap45	UTSW	10	79,863,508 (GRCm39)	missense	probably damaging	1.00
R2162:Arhgap45	UTSW	10	79,852,813 (GRCm39)	start codon destroyed	probably null	0.02
R2937:Arhgap45	UTSW	10	79,864,836 (GRCm39)	missense	probably damaging	1.00
R2938:Arhgap45	UTSW	10	79,864,836 (GRCm39)	missense	probably damaging	1.00
R3081:Arhgap45	UTSW	10	79,862,281 (GRCm39)	missense	probably damaging	1.00
R4695:Arhgap45	UTSW	10	79,861,364 (GRCm39)	missense	probably damaging	1.00
R4736:Arhgap45	UTSW	10	79,862,006 (GRCm39)	missense	probably damaging	1.00
R4758:Arhgap45	UTSW	10	79,866,127 (GRCm39)	missense	probably benign	0.00
R4860:Arhgap45	UTSW	10	79,862,900 (GRCm39)	missense	probably damaging	1.00
R4860:Arhgap45	UTSW	10	79,862,900 (GRCm39)	missense	probably damaging	1.00
R4934:Arhgap45	UTSW	10	79,856,791 (GRCm39)	missense	probably damaging	1.00
R4943:Arhgap45	UTSW	10	79,862,337 (GRCm39)	missense	probably benign	0.00
R5102:Arhgap45	UTSW	10	79,857,262 (GRCm39)	missense	probably benign	0.01
R5128:Arhgap45	UTSW	10	79,866,793 (GRCm39)	missense	probably benign	0.16
R5667:Arhgap45	UTSW	10	79,861,310 (GRCm39)	missense	probably damaging	1.00
R5671:Arhgap45	UTSW	10	79,861,310 (GRCm39)	missense	probably damaging	1.00
R5920:Arhgap45	UTSW	10	79,864,965 (GRCm39)	missense	possibly damaging	0.87
R5998:Arhgap45	UTSW	10	79,866,784 (GRCm39)	missense	probably damaging	0.99
R6276:Arhgap45	UTSW	10	79,862,068 (GRCm39)	missense	probably benign	0.25
R6675:Arhgap45	UTSW	10	79,853,938 (GRCm39)	missense	probably null	0.98
R6738:Arhgap45	UTSW	10	79,863,431 (GRCm39)	missense	probably damaging	1.00
R6783:Arhgap45	UTSW	10	79,853,698 (GRCm39)	missense	possibly damaging	0.92
R6863:Arhgap45	UTSW	10	79,853,616 (GRCm39)	missense	probably benign	0.03
R6978:Arhgap45	UTSW	10	79,857,682 (GRCm39)	missense	probably benign	0.00
R7089:Arhgap45	UTSW	10	79,862,181 (GRCm39)	critical splice donor site	probably null
R7215:Arhgap45	UTSW	10	79,861,316 (GRCm39)	missense	possibly damaging	0.81
R7307:Arhgap45	UTSW	10	79,865,016 (GRCm39)	missense	probably benign	0.14
R7308:Arhgap45	UTSW	10	79,862,392 (GRCm39)	critical splice donor site	probably null
R7480:Arhgap45	UTSW	10	79,862,936 (GRCm39)	nonsense	probably null
R7481:Arhgap45	UTSW	10	79,858,134 (GRCm39)	missense	possibly damaging	0.80
R7649:Arhgap45	UTSW	10	79,866,835 (GRCm39)	missense	probably benign	0.00
R7652:Arhgap45	UTSW	10	79,864,672 (GRCm39)	missense	probably benign	0.01
R7748:Arhgap45	UTSW	10	79,852,766 (GRCm39)	unclassified	probably benign
R7883:Arhgap45	UTSW	10	79,863,423 (GRCm39)	nonsense	probably null
R8121:Arhgap45	UTSW	10	79,853,909 (GRCm39)	missense	probably damaging	0.99
R8169:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8170:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8175:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8178:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8186:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8187:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8687:Arhgap45	UTSW	10	79,852,621 (GRCm39)	unclassified	probably benign
R8866:Arhgap45	UTSW	10	79,853,750 (GRCm39)	missense	probably damaging	1.00
R8905:Arhgap45	UTSW	10	79,855,570 (GRCm39)	missense	probably benign	0.00
R9299:Arhgap45	UTSW	10	79,862,565 (GRCm39)	missense	possibly damaging	0.82
R9412:Arhgap45	UTSW	10	79,855,564 (GRCm39)	start codon destroyed	probably null	0.66
R9579:Arhgap45	UTSW	10	79,853,843 (GRCm39)	missense	probably benign
R9629:Arhgap45	UTSW	10	79,863,694 (GRCm39)	missense	probably damaging	1.00
R9710:Arhgap45	UTSW	10	79,857,635 (GRCm39)	missense	probably damaging	0.99
X0023:Arhgap45	UTSW	10	79,866,634 (GRCm39)	missense	probably damaging	0.98
X0063:Arhgap45	UTSW	10	79,866,190 (GRCm39)	missense	possibly damaging	0.51
Z1176:Arhgap45	UTSW	10	79,864,886 (GRCm39)	missense	probably damaging	0.99
Z1176:Arhgap45	UTSW	10	79,861,370 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02