Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02111:Arhgap40'

280150

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 #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

158354716-158392682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 158381764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 416 (Y416H)

Ref Sequence

ENSEMBL: ENSMUSP00000130349 (fasta)

Gene Model

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

AlphaFold

E9Q6X9

Predicted Effect

probably damaging
Transcript: ENSMUST00000099133
AA Change: Y419H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096736
Gene: ENSMUSG00000074625
AA Change: Y419H

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 damaging
Transcript: ENSMUST00000165398
AA Change: Y416H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130349
Gene: ENSMUSG00000074625
AA Change: Y416H

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	G	A	8: 95,761,627 (GRCm39)	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,347,157 (GRCm39)	L42*	probably null	Het
Ankrd45	A	G	1: 160,990,921 (GRCm39)	K259E	probably damaging	Het
Apoc3	T	C	9: 46,145,772 (GRCm39)	K79R	possibly damaging	Het
Armc5	A	G	7: 127,843,255 (GRCm39)	T683A	probably benign	Het
Bora	T	C	14: 99,284,813 (GRCm39)	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,497,003 (GRCm39)	S2189N	probably damaging	Het
Cct2	G	A	10: 116,889,017 (GRCm39)	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,609,144 (GRCm39)	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 114,903,219 (GRCm39)		probably benign	Het
Cntnap5a	G	A	1: 116,017,082 (GRCm39)	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,409,103 (GRCm39)	D447V	probably damaging	Het
Cpne7	T	C	8: 123,852,392 (GRCm39)		probably benign	Het
Dap3	G	A	3: 88,836,725 (GRCm39)	T92I	probably benign	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Egfem1	G	A	3: 29,705,045 (GRCm39)		probably null	Het
Fam120b	T	C	17: 15,622,847 (GRCm39)	L275P	possibly damaging	Het
Fam161a	A	T	11: 22,970,026 (GRCm39)	H68L	probably benign	Het
Fam193a	A	G	5: 34,568,001 (GRCm39)	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gm10136	T	C	19: 28,981,122 (GRCm39)	K41E	probably benign	Het
Gm10797	C	T	10: 67,408,397 (GRCm39)		noncoding transcript	Het
Hsf1	A	G	15: 76,380,281 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Itfg2	T	C	6: 128,387,344 (GRCm39)	H422R	probably benign	Het
Lrp4	G	T	2: 91,336,404 (GRCm39)	L1738F	probably damaging	Het
Matcap2	T	C	9: 22,335,475 (GRCm39)	I31T	probably benign	Het
Mettl17	A	G	14: 52,128,843 (GRCm39)	E371G	probably damaging	Het
Mfsd6	A	T	1: 52,747,503 (GRCm39)	L454Q	probably damaging	Het
Myh10	A	T	11: 68,680,938 (GRCm39)	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,324,944 (GRCm39)	M1K	probably null	Het
Or2d3c	A	C	7: 106,525,823 (GRCm39)	V281G	probably damaging	Het
Or52e4	A	G	7: 104,706,152 (GRCm39)	D233G	probably benign	Het
Or5d36	T	A	2: 87,901,571 (GRCm39)	N52Y	probably benign	Het
Otop1	T	A	5: 38,435,045 (GRCm39)	C89S	probably benign	Het
Pitrm1	G	T	13: 6,623,181 (GRCm39)	R775L	probably benign	Het
Prpf19	A	G	19: 10,882,458 (GRCm39)	T512A	probably benign	Het
Prpf4b	T	A	13: 35,067,944 (GRCm39)	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,716,630 (GRCm39)	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,828,006 (GRCm39)	D148G	probably damaging	Het
Sbds	A	G	5: 130,279,782 (GRCm39)	I74T	probably damaging	Het
Sec63	T	C	10: 42,686,884 (GRCm39)	V468A	probably damaging	Het
Slc35b3	A	T	13: 39,139,758 (GRCm39)	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,721,210 (GRCm39)	Y208F	probably benign	Het
Slfn8	A	T	11: 82,895,324 (GRCm39)	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,218,683 (GRCm39)	M600L	probably benign	Het
Supt7l	T	C	5: 31,673,022 (GRCm39)		probably null	Het
Tecrl	T	A	5: 83,502,639 (GRCm39)	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,437,140 (GRCm39)		probably benign	Het
Tespa1	A	G	10: 130,191,353 (GRCm39)	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,118,269 (GRCm39)	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,887,766 (GRCm39)		noncoding transcript	Het
Tmem184a	G	T	5: 139,798,856 (GRCm39)	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,867,660 (GRCm39)	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,247,403 (GRCm39)	T255I	probably damaging	Het
Top1mt	G	A	15: 75,537,555 (GRCm39)		probably benign	Het
Treh	C	T	9: 44,594,258 (GRCm39)	T168I	probably benign	Het
Ttn	A	T	2: 76,597,672 (GRCm39)	I11420N	probably benign	Het
Zp2	T	C	7: 119,731,641 (GRCm39)	K705E	possibly damaging	Het
Zw10	T	C	9: 48,980,054 (GRCm39)	I395T	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
IGL02131:Arhgap40	APN	2	158,373,859 (GRCm39)	splice site	probably null
IGL02552:Arhgap40	APN	2	158,388,721 (GRCm39)	missense	probably benign
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