Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02552:Arhgap40'

298164

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgap40

Ensembl Gene

ENSMUSG00000074625

Gene Name

Rho GTPase activating protein 40

Synonyms

Gm14203

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.442) question?

Stock #

IGL02552

Quality Score

Status

Chromosome

Chromosomal Location

158354716-158392682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 158388721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 552 (W552R)

Ref Sequence

ENSEMBL: ENSMUSP00000130349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099133] [ENSMUST00000165398]

AlphaFold

E9Q6X9

Predicted Effect

probably benign
Transcript: ENSMUST00000099133
AA Change: W555R

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

SMART Domains

Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: W555R

Domain	Start	End	E-Value	Type
low complexity region	123	143	N/A	INTRINSIC
RhoGAP	340	519	1.84e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135838

Predicted Effect

probably benign
Transcript: ENSMUST00000165398
AA Change: W552R

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

SMART Domains

Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: W552R

Domain	Start	End	E-Value	Type
low complexity region	120	140	N/A	INTRINSIC
RhoGAP	337	516	1.84e-47	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,145 (GRCm39)	L178S	probably damaging	Het
Abca12	A	G	1: 71,333,906 (GRCm39)	Y1199H	probably damaging	Het
Abcc9	T	C	6: 142,551,645 (GRCm39)	D1221G	possibly damaging	Het
Apc	T	A	18: 34,446,035 (GRCm39)	M977K	possibly damaging	Het
Arhgap30	T	A	1: 171,235,324 (GRCm39)	L566Q	probably damaging	Het
Astn1	C	T	1: 158,332,965 (GRCm39)	S349F	possibly damaging	Het
Bard1	T	C	1: 71,104,815 (GRCm39)		probably benign	Het
Batf2	T	A	19: 6,221,537 (GRCm39)	Y116N	probably benign	Het
Bltp3b	T	A	10: 89,642,605 (GRCm39)	L10*	probably null	Het
Cbx6	T	C	15: 79,713,094 (GRCm39)	H111R	probably damaging	Het
Cd44	T	A	2: 102,679,076 (GRCm39)	N242I	probably benign	Het
Cdnf	C	T	2: 3,525,012 (GRCm39)	Q184*	probably null	Het
Chd2	C	A	7: 73,097,068 (GRCm39)		probably benign	Het
Cmtm6	G	A	9: 114,566,374 (GRCm39)	V88M	probably damaging	Het
Col24a1	C	A	3: 145,179,962 (GRCm39)	S1151R	possibly damaging	Het
Csta2	A	G	16: 36,073,459 (GRCm39)	E15G	probably damaging	Het
Degs1l	T	A	1: 180,882,463 (GRCm39)	V75E	possibly damaging	Het
Dnajc2	T	C	5: 21,988,061 (GRCm39)	D6G	probably damaging	Het
Eif3a	G	A	19: 60,751,664 (GRCm39)		probably benign	Het
Fbn1	C	A	2: 125,254,633 (GRCm39)	C210F	possibly damaging	Het
Fmn2	T	A	1: 174,523,286 (GRCm39)	D1380E	probably damaging	Het
Fry	A	T	5: 150,304,375 (GRCm39)	K588N	probably damaging	Het
Gm18856	G	A	13: 14,139,805 (GRCm39)		probably benign	Het
Gpr37	G	T	6: 25,688,686 (GRCm39)	T137K	probably benign	Het
Gzmc	T	C	14: 56,472,039 (GRCm39)	M1V	probably null	Het
Htr5a	T	C	5: 28,047,958 (GRCm39)	V171A	probably benign	Het
Ints6l	T	C	X: 55,500,557 (GRCm39)		probably benign	Het
Kcnma1	C	T	14: 23,436,327 (GRCm39)		probably null	Het
Krt35	C	T	11: 99,983,899 (GRCm39)	G367D	probably benign	Het
Nlrp1b	C	T	11: 71,063,057 (GRCm39)	V668I	possibly damaging	Het
Nlrp1b	C	T	11: 71,072,878 (GRCm39)	V322I	possibly damaging	Het
Ntf3	T	C	6: 126,078,823 (GRCm39)	N228D	probably damaging	Het
Nup133	G	A	8: 124,655,994 (GRCm39)	R496W	possibly damaging	Het
Or4c10	T	C	2: 89,760,903 (GRCm39)	V250A	probably benign	Het
Or51i1	C	A	7: 103,671,463 (GRCm39)	G21W	probably damaging	Het
Pah	C	T	10: 87,414,707 (GRCm39)		probably benign	Het
Pan2	G	T	10: 128,154,896 (GRCm39)	W1112L	probably damaging	Het
Pkn3	G	A	2: 29,970,879 (GRCm39)	R209Q	probably damaging	Het
Plaa	C	T	4: 94,470,717 (GRCm39)		probably null	Het
Qprt	C	T	7: 126,708,027 (GRCm39)	A135T	probably damaging	Het
Rbbp6	T	G	7: 122,582,204 (GRCm39)	S108A	probably damaging	Het
Smg1	T	A	7: 117,795,117 (GRCm39)		probably benign	Het
Spink5	T	A	18: 44,125,235 (GRCm39)	C368S	possibly damaging	Het
Sptan1	T	A	2: 29,908,486 (GRCm39)	I1734N	probably damaging	Het
Stk38l	C	T	6: 146,669,031 (GRCm39)	L170F	probably damaging	Het
Tesmin	C	T	19: 3,452,483 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,949,530 (GRCm39)	C1697*	probably null	Het
Tmco4	T	C	4: 138,785,690 (GRCm39)	S587P	probably benign	Het
Tmem208	G	A	8: 106,055,329 (GRCm39)		probably null	Het
Trim30d	T	C	7: 104,121,623 (GRCm39)	Q224R	probably damaging	Het
Trpm7	T	A	2: 126,682,699 (GRCm39)	D390V	probably damaging	Het
Uba7	A	G	9: 107,858,589 (GRCm39)	I807V	probably benign	Het
Utp18	C	A	11: 93,759,160 (GRCm39)	C438F	probably damaging	Het
Vps13d	T	C	4: 144,899,707 (GRCm39)	K191E	possibly damaging	Het
Wdr27	A	G	17: 15,146,453 (GRCm39)	S181P	probably damaging	Het
Zfp462	T	C	4: 55,010,613 (GRCm39)	Y860H	probably damaging	Het

Other mutations in Arhgap40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Arhgap40	APN	2	158,373,078 (GRCm39)	missense	probably benign	0.41
IGL00547:Arhgap40	APN	2	158,380,546 (GRCm39)	splice site	probably benign
IGL00911:Arhgap40	APN	2	158,376,636 (GRCm39)	splice site	probably benign
IGL01084:Arhgap40	APN	2	158,385,138 (GRCm39)	missense	probably damaging	1.00
IGL02037:Arhgap40	APN	2	158,376,742 (GRCm39)	missense	probably damaging	1.00
IGL02111:Arhgap40	APN	2	158,381,764 (GRCm39)	missense	probably damaging	0.99
IGL02131:Arhgap40	APN	2	158,373,859 (GRCm39)	splice site	probably null
PIT4305001:Arhgap40	UTSW	2	158,373,825 (GRCm39)	missense	probably benign	0.00
R0212:Arhgap40	UTSW	2	158,392,495 (GRCm39)	missense	probably damaging	1.00
R0508:Arhgap40	UTSW	2	158,388,670 (GRCm39)	missense	probably damaging	1.00
R0787:Arhgap40	UTSW	2	158,389,710 (GRCm39)	missense	probably benign
R1075:Arhgap40	UTSW	2	158,391,567 (GRCm39)	missense	possibly damaging	0.54
R1201:Arhgap40	UTSW	2	158,376,689 (GRCm39)	missense	probably damaging	1.00
R1511:Arhgap40	UTSW	2	158,369,081 (GRCm39)	missense	probably benign
R1519:Arhgap40	UTSW	2	158,388,721 (GRCm39)	missense	probably benign
R1567:Arhgap40	UTSW	2	158,388,719 (GRCm39)	missense	probably damaging	1.00
R1662:Arhgap40	UTSW	2	158,381,190 (GRCm39)	missense	probably damaging	1.00
R4120:Arhgap40	UTSW	2	158,374,250 (GRCm39)	missense	probably benign	0.02
R4592:Arhgap40	UTSW	2	158,388,629 (GRCm39)	missense	possibly damaging	0.88
R4678:Arhgap40	UTSW	2	158,374,226 (GRCm39)	missense	probably benign	0.01
R4818:Arhgap40	UTSW	2	158,381,639 (GRCm39)	missense	probably damaging	1.00
R4953:Arhgap40	UTSW	2	158,385,326 (GRCm39)	missense	possibly damaging	0.57
R5108:Arhgap40	UTSW	2	158,389,599 (GRCm39)	missense	probably damaging	1.00
R5578:Arhgap40	UTSW	2	158,373,126 (GRCm39)	missense	probably damaging	0.99
R6924:Arhgap40	UTSW	2	158,369,066 (GRCm39)	missense	probably benign	0.00
R6931:Arhgap40	UTSW	2	158,373,138 (GRCm39)	missense	probably benign	0.00
R7028:Arhgap40	UTSW	2	158,373,294 (GRCm39)	critical splice donor site	probably null
R7253:Arhgap40	UTSW	2	158,389,576 (GRCm39)	missense	probably benign
R7385:Arhgap40	UTSW	2	158,385,147 (GRCm39)	missense	probably damaging	1.00
R7670:Arhgap40	UTSW	2	158,373,845 (GRCm39)	missense	probably benign	0.03
R7813:Arhgap40	UTSW	2	158,380,620 (GRCm39)	missense	probably benign	0.00
R7824:Arhgap40	UTSW	2	158,376,666 (GRCm39)	missense	probably damaging	1.00
R8179:Arhgap40	UTSW	2	158,381,776 (GRCm39)	missense	probably damaging	1.00
R8559:Arhgap40	UTSW	2	158,383,721 (GRCm39)	missense	probably damaging	1.00
R8799:Arhgap40	UTSW	2	158,354,758 (GRCm39)	missense	probably benign	0.33
R8804:Arhgap40	UTSW	2	158,389,626 (GRCm39)	missense	probably benign	0.00
R9096:Arhgap40	UTSW	2	158,389,584 (GRCm39)	missense	probably benign	0.01
R9097:Arhgap40	UTSW	2	158,389,584 (GRCm39)	missense	probably benign	0.01
R9222:Arhgap40	UTSW	2	158,388,692 (GRCm39)	missense	probably damaging	1.00
R9488:Arhgap40	UTSW	2	158,391,571 (GRCm39)	missense	possibly damaging	0.78
Z1176:Arhgap40	UTSW	2	158,376,805 (GRCm39)	missense	probably benign

Posted On

2015-04-16