Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03292:Arhgap45'

415926

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 #

IGL03292

Quality Score

Status

Chromosome

Chromosomal Location

79852505-79867305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79856803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 205 (N205S)

Ref Sequence

ENSEMBL: ENSMUSP00000101012 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043311
AA Change: N78S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: N78S

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 benign
Transcript: ENSMUST00000099501
AA Change: N194S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: N194S

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 benign
Transcript: ENSMUST00000105373
AA Change: N205S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: N205S

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,765,827 (GRCm39)	C713Y	possibly damaging	Het
Arhgef5	T	G	6: 43,257,180 (GRCm39)	F1244V	probably damaging	Het
Bbs2	A	G	8: 94,801,749 (GRCm39)		probably null	Het
Chsy1	A	C	7: 65,775,120 (GRCm39)	M150L	probably benign	Het
Dync1h1	T	A	12: 110,632,989 (GRCm39)		probably null	Het
Efhc1	T	C	1: 21,030,496 (GRCm39)	I143T	possibly damaging	Het
Elf4	A	C	X: 47,503,583 (GRCm39)	F642C	probably damaging	Het
Fgfr1	A	G	8: 26,047,771 (GRCm39)	D128G	possibly damaging	Het
Fras1	T	A	5: 96,855,350 (GRCm39)	I1953N	probably damaging	Het
Frmpd4	A	T	X: 166,260,586 (GRCm39)	I1052K	probably benign	Het
Ift52	T	A	2: 162,865,320 (GRCm39)	I57N	probably damaging	Het
Lilrb4a	G	A	10: 51,370,942 (GRCm39)		probably null	Het
Mob3a	A	T	10: 80,526,920 (GRCm39)	I135N	probably benign	Het
Pcdhb16	T	A	18: 37,613,437 (GRCm39)	I799N	probably damaging	Het
Rad52	T	C	6: 119,895,934 (GRCm39)	L265P	possibly damaging	Het
Sorbs1	T	A	19: 40,362,009 (GRCm39)	Q155L	possibly damaging	Het
Taok1	A	T	11: 77,430,962 (GRCm39)	M821K	probably benign	Het
Tars1	T	A	15: 11,384,107 (GRCm39)	E720V	probably benign	Het
Tec	T	C	5: 72,914,707 (GRCm39)	E603G	probably null	Het
Timp1	A	G	X: 20,739,057 (GRCm39)	T56A	probably benign	Het
Txnrd2	C	A	16: 18,296,479 (GRCm39)	H511Q	possibly damaging	Het
Ubr4	A	T	4: 139,167,746 (GRCm39)	D2743V	probably damaging	Het
Vmn1r211	C	T	13: 23,036,613 (GRCm39)	G18D	probably damaging	Het
Zfhx4	C	T	3: 5,476,840 (GRCm39)	Q3127*	probably null	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
IGL03352:Arhgap45	APN	10	79,866,585 (GRCm39)	missense	probably damaging	0.96
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