Mutagenetix > Incidental Mutation

Incidental Mutation 'R6738:Arhgap45'

530318

Institutional Source

Beutler Lab

Gene Symbol

Arhgap45

Ensembl Gene

ENSMUSG00000035697

Gene Name

Rho GTPase activating protein 45

Synonyms

6330406L22Rik, Hmha1

MMRRC Submission

044856-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79852505-79867305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79863431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 758 (K758M)

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 damaging
Transcript: ENSMUST00000043311
AA Change: K631M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: K631M

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: K747M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: K747M

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: K758M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: K758M

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

Meta Mutation Damage Score

0.4488

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,684,586 (GRCm39)	Y454H	probably damaging	Het
Ambp	A	T	4: 63,067,711 (GRCm39)	D166E	probably benign	Het
Amigo2	A	G	15: 97,143,345 (GRCm39)	V359A	possibly damaging	Het
Ankrd11	A	T	8: 123,618,660 (GRCm39)	S1710T	probably damaging	Het
Ankrd31	T	C	13: 97,040,635 (GRCm39)	S1713P	possibly damaging	Het
Bclaf1	T	C	10: 20,199,515 (GRCm39)	I304T	possibly damaging	Het
C1ra	A	G	6: 124,494,718 (GRCm39)	Y327C	probably damaging	Het
Ccdc73	C	T	2: 104,822,433 (GRCm39)	S794L	probably benign	Het
Cd24a	A	G	10: 43,458,672 (GRCm39)	N48D	possibly damaging	Het
Col11a1	A	G	3: 113,906,116 (GRCm39)		probably benign	Het
Cyp11b2	G	A	15: 74,725,363 (GRCm39)	T252I	possibly damaging	Het
Dlx2	A	G	2: 71,376,406 (GRCm39)	Y111H	probably benign	Het
Dsp	T	C	13: 38,376,186 (GRCm39)	S1324P	possibly damaging	Het
Esyt3	A	T	9: 99,202,346 (GRCm39)	F522I	probably damaging	Het
Fam193b	C	T	13: 55,698,174 (GRCm39)	A45T	probably benign	Het
Flnb	A	G	14: 7,904,536 (GRCm38)	T980A	probably benign	Het
Gabrb2	G	T	11: 42,484,758 (GRCm39)	A272S	possibly damaging	Het
H2al2a	G	T	2: 18,001,429 (GRCm39)	Q86K	possibly damaging	Het
Ikbkb	T	G	8: 23,165,052 (GRCm39)	I243L	probably damaging	Het
Il18r1	A	G	1: 40,537,816 (GRCm39)	E527G	probably benign	Het
Krt35	A	T	11: 99,984,535 (GRCm39)	V320D	probably damaging	Het
Krt76	C	T	15: 101,795,913 (GRCm39)	R419H	probably benign	Het
Lrp2	T	A	2: 69,288,832 (GRCm39)	Y3678F	probably damaging	Het
Mab21l4	G	A	1: 93,087,707 (GRCm39)	L49F	probably benign	Het
Mnat1	T	G	12: 73,319,246 (GRCm39)	S290A	probably benign	Het
Mptx2	T	C	1: 173,102,422 (GRCm39)	E89G	probably benign	Het
Myom1	T	A	17: 71,407,393 (GRCm39)		probably null	Het
Naaladl2	A	G	3: 24,225,806 (GRCm39)	V541A	probably benign	Het
Nbeal2	T	C	9: 110,465,973 (GRCm39)	T851A	possibly damaging	Het
Ncoa4	A	G	14: 31,892,750 (GRCm39)	Y11C	probably benign	Het
Ntn5	T	A	7: 45,343,780 (GRCm39)		probably null	Het
Or10d4c	A	G	9: 39,557,957 (GRCm39)		probably benign	Het
Or1j18	C	T	2: 36,624,444 (GRCm39)	T37I	probably benign	Het
Otop2	A	G	11: 115,220,318 (GRCm39)	Y386C	probably damaging	Het
Ppp2r1a	T	A	17: 21,174,979 (GRCm39)		probably null	Het
Prkd2	C	A	7: 16,599,830 (GRCm39)	N764K	possibly damaging	Het
Ralgapa1	A	G	12: 55,809,512 (GRCm39)	L421S	probably damaging	Het
Ric3	G	A	7: 108,647,269 (GRCm39)	R184*	probably null	Het
Sfswap	A	G	5: 129,618,505 (GRCm39)	K480E	probably damaging	Het
Siah2	A	G	3: 58,598,974 (GRCm39)	V88A	probably benign	Het
Slc22a16	T	C	10: 40,461,298 (GRCm39)	F367L	probably damaging	Het
Slc23a2	T	C	2: 131,920,356 (GRCm39)	D183G	probably benign	Het
Svep1	T	C	4: 58,123,180 (GRCm39)	N712S	possibly damaging	Het
Tex21	A	G	12: 76,286,283 (GRCm39)	V72A	probably benign	Het
Tfap4	A	G	16: 4,367,311 (GRCm39)	Y184H	probably damaging	Het
Timeless	T	C	10: 128,076,504 (GRCm39)	Y138H	probably damaging	Het
Tln2	A	T	9: 67,293,946 (GRCm39)	N227K	possibly damaging	Het
Trip10	C	T	17: 57,563,899 (GRCm39)	P342S	probably benign	Het
Ttc6	A	T	12: 57,735,426 (GRCm39)	E1156V	probably damaging	Het
Ttn	T	C	2: 76,728,472 (GRCm39)		probably benign	Het
Vmn2r109	G	A	17: 20,774,785 (GRCm39)	S190L	possibly damaging	Het
Wdr54	A	G	6: 83,132,109 (GRCm39)	S99P	probably damaging	Het
Ythdf2	A	C	4: 131,932,272 (GRCm39)	I296R	probably benign	Het
Zfp445	A	G	9: 122,691,123 (GRCm39)	V24A	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAAGGTTCTCCAGGTGCAG -3'
(R):5'- GTTTTCACGCCATTGACCCG -3'

Sequencing Primer
(F):5'- TTCTCCAGGTGCAGGGATC -3'
(R):5'- AGCATTGCACCAGCTCTG -3'

Posted On

2018-08-01