Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02189:Gapvd1'

283774

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gapvd1

Ensembl Gene

ENSMUSG00000026867

Gene Name

GTPase activating protein and VPS9 domains 1

Synonyms

4432404J10Rik, 2010005B09Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02189

Quality Score

Status

Chromosome

Chromosomal Location

34674594-34755232 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34728544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 272 (N272K)

Ref Sequence

ENSEMBL: ENSMUSP00000108723 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028224] [ENSMUST00000102800] [ENSMUST00000113099] [ENSMUST00000142436]

AlphaFold

Q6PAR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028224
AA Change: N272K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028224
Gene: ENSMUSG00000026867
AA Change: N272K

Domain	Start	End	E-Value	Type
Pfam:RasGAP	152	353	2.3e-36	PFAM
internal_repeat_1	626	655	3.27e-5	PROSPERO
low complexity region	664	678	N/A	INTRINSIC
internal_repeat_1	686	717	3.27e-5	PROSPERO
low complexity region	875	890	N/A	INTRINSIC
low complexity region	909	920	N/A	INTRINSIC
low complexity region	923	933	N/A	INTRINSIC
low complexity region	936	952	N/A	INTRINSIC
low complexity region	972	982	N/A	INTRINSIC
VPS9	1332	1437	1.08e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102800
AA Change: N272K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099864
Gene: ENSMUSG00000026867
AA Change: N272K

Domain	Start	End	E-Value	Type
Pfam:RasGAP	152	353	2.3e-36	PFAM
internal_repeat_1	626	655	3.27e-5	PROSPERO
low complexity region	664	678	N/A	INTRINSIC
internal_repeat_1	686	717	3.27e-5	PROSPERO
low complexity region	875	890	N/A	INTRINSIC
low complexity region	909	920	N/A	INTRINSIC
low complexity region	923	933	N/A	INTRINSIC
low complexity region	936	952	N/A	INTRINSIC
low complexity region	972	982	N/A	INTRINSIC
VPS9	1332	1437	1.08e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113099
AA Change: N272K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108723
Gene: ENSMUSG00000026867
AA Change: N272K

Domain	Start	End	E-Value	Type
Pfam:RasGAP	152	353	2.8e-37	PFAM
internal_repeat_1	647	676	3.6e-5	PROSPERO
low complexity region	685	699	N/A	INTRINSIC
internal_repeat_1	707	738	3.6e-5	PROSPERO
low complexity region	896	911	N/A	INTRINSIC
low complexity region	930	941	N/A	INTRINSIC
low complexity region	944	954	N/A	INTRINSIC
low complexity region	957	973	N/A	INTRINSIC
low complexity region	993	1003	N/A	INTRINSIC
VPS9	1353	1458	1.08e-24	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000113103
AA Change: N102K

SMART Domains

Protein: ENSMUSP00000108727
Gene: ENSMUSG00000026867
AA Change: N102K

Domain	Start	End	E-Value	Type
Pfam:RasGAP	1	184	4.9e-32	PFAM
internal_repeat_1	484	513	1.18e-5	PROSPERO
low complexity region	522	536	N/A	INTRINSIC
internal_repeat_1	544	575	1.18e-5	PROSPERO
low complexity region	733	748	N/A	INTRINSIC
low complexity region	767	778	N/A	INTRINSIC
low complexity region	781	791	N/A	INTRINSIC
low complexity region	794	810	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000137528
AA Change: N134K

SMART Domains

Protein: ENSMUSP00000120138
Gene: ENSMUSG00000026867
AA Change: N134K

Domain	Start	End	E-Value	Type
Pfam:RasGAP	15	216	1.2e-37	PFAM
internal_repeat_1	510	539	1.19e-5	PROSPERO
low complexity region	548	562	N/A	INTRINSIC
internal_repeat_1	570	601	1.19e-5	PROSPERO
low complexity region	733	748	N/A	INTRINSIC
low complexity region	767	778	N/A	INTRINSIC
low complexity region	781	791	N/A	INTRINSIC
low complexity region	794	810	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142436

SMART Domains

Protein: ENSMUSP00000126225
Gene: ENSMUSG00000026867

Domain	Start	End	E-Value	Type
SCOP:d1wer__	95	135	6e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169207

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,000,230	K57E	probably damaging	Het
9930111J21Rik1	A	T	11: 48,947,421	Y780N	probably benign	Het
Aadacl2	T	C	3: 60,025,188	S375P	probably damaging	Het
Abi1	A	C	2: 23,040,064	M1R	probably null	Het
Acss1	T	C	2: 150,629,868	D322G	probably damaging	Het
Adam22	G	A	5: 8,330,029	R90W	possibly damaging	Het
Agtpbp1	T	C	13: 59,500,461	H515R	probably benign	Het
BC003331	G	T	1: 150,372,033	N356K	possibly damaging	Het
C3	T	C	17: 57,220,113	K779E	probably benign	Het
Cfhr2	A	G	1: 139,821,759	Y162H	probably damaging	Het
Chchd5	T	C	2: 129,133,268		probably benign	Het
Csmd1	T	A	8: 16,271,606	I493F	probably damaging	Het
Daam1	A	T	12: 71,946,285	R349S	unknown	Het
Dnah11	T	C	12: 118,082,579	E1708G	probably benign	Het
Epg5	A	G	18: 78,012,870	D1753G	probably damaging	Het
Flt4	T	G	11: 49,626,003	C206G	probably damaging	Het
Fscn1	G	T	5: 142,960,620	A58S	possibly damaging	Het
Gem	T	A	4: 11,706,121	S70T	possibly damaging	Het
H2-K1	A	G	17: 33,999,492	L150P	probably damaging	Het
Hsd3b3	T	A	3: 98,742,138	I290L	probably benign	Het
Iws1	A	G	18: 32,093,125	R689G	probably damaging	Het
Klk1b22	A	G	7: 44,116,206		probably null	Het
Klra4	T	A	6: 130,044,142	D230V	possibly damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Lilra5	A	T	7: 4,237,969	M21L	probably benign	Het
Lrrc20	T	A	10: 61,527,108	V44D	possibly damaging	Het
Mtx1	T	G	3: 89,209,317	M426L	probably damaging	Het
Mylk2	C	T	2: 152,915,154	P283L	probably damaging	Het
Mynn	T	A	3: 30,613,544		probably benign	Het
Olfr1231	A	C	2: 89,303,297	C98W	probably damaging	Het
Parl	T	A	16: 20,297,703	I116F	probably damaging	Het
Pdlim3	T	C	8: 45,885,593	V5A	probably damaging	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Ptprf	T	A	4: 118,213,642		probably benign	Het
Ptprn	A	G	1: 75,258,495	S170P	possibly damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Rps27a	C	A	11: 29,546,772	Q40H	probably damaging	Het
Ryr3	A	T	2: 112,754,838		probably benign	Het
Scube3	G	T	17: 28,162,996	C332F	probably benign	Het
Sh3glb2	T	C	2: 30,345,339		probably null	Het
Sh3tc2	A	G	18: 61,990,622	E818G	probably benign	Het
Slc16a3	G	A	11: 120,956,771	V262I	probably benign	Het
Sptbn1	T	A	11: 30,117,871	D1781V	probably damaging	Het
Ssr1	C	T	13: 37,987,516		probably null	Het
Tep1	A	G	14: 50,826,826	L2442S	probably benign	Het
Tonsl	A	T	15: 76,623,178	V94D	possibly damaging	Het
Ttc22	A	T	4: 106,639,157	H468L	probably benign	Het
Ttc27	C	T	17: 74,729,899	T189M	probably damaging	Het
Ttn	T	C	2: 76,890,156		probably benign	Het
Ttn	T	G	2: 76,759,895	I21157L	probably damaging	Het
Vav3	T	A	3: 109,525,960		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Gapvd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Gapvd1	APN	2	34699860	missense	probably benign	0.00
IGL00985:Gapvd1	APN	2	34695563	missense	probably damaging	0.99
IGL01133:Gapvd1	APN	2	34725398	missense	probably damaging	0.98
IGL01347:Gapvd1	APN	2	34706696	critical splice donor site	probably null
IGL01830:Gapvd1	APN	2	34688956	missense	probably benign	0.44
IGL01865:Gapvd1	APN	2	34695503	missense	probably null
IGL02009:Gapvd1	APN	2	34704191	missense	probably damaging	1.00
IGL02014:Gapvd1	APN	2	34704191	missense	probably damaging	1.00
IGL02418:Gapvd1	APN	2	34730518	missense	probably benign	0.00
IGL02632:Gapvd1	APN	2	34684174	splice site	probably benign
IGL02636:Gapvd1	APN	2	34725404	missense	probably benign	0.01
IGL02643:Gapvd1	APN	2	34704180	missense	probably damaging	1.00
IGL03271:Gapvd1	APN	2	34727207	unclassified	probably benign
P0023:Gapvd1	UTSW	2	34706688	splice site	probably benign
R0016:Gapvd1	UTSW	2	34699913	splice site	probably benign
R0016:Gapvd1	UTSW	2	34699913	splice site	probably benign
R0029:Gapvd1	UTSW	2	34678141	missense	probably damaging	1.00
R0029:Gapvd1	UTSW	2	34678141	missense	probably damaging	1.00
R0282:Gapvd1	UTSW	2	34688960	nonsense	probably null
R0414:Gapvd1	UTSW	2	34693427	missense	probably benign	0.14
R0443:Gapvd1	UTSW	2	34704621	intron	probably benign
R0542:Gapvd1	UTSW	2	34725036	unclassified	probably benign
R0570:Gapvd1	UTSW	2	34728540	missense	probably damaging	1.00
R0840:Gapvd1	UTSW	2	34729113	missense	probably benign	0.29
R0866:Gapvd1	UTSW	2	34709217	missense	probably damaging	1.00
R0890:Gapvd1	UTSW	2	34712317	missense	probably damaging	1.00
R0926:Gapvd1	UTSW	2	34712325	missense	probably damaging	1.00
R0970:Gapvd1	UTSW	2	34730613	splice site	probably null
R1168:Gapvd1	UTSW	2	34704469	missense	probably damaging	1.00
R1391:Gapvd1	UTSW	2	34706802	missense	probably damaging	1.00
R1577:Gapvd1	UTSW	2	34709228	missense	probably damaging	1.00
R1585:Gapvd1	UTSW	2	34712195	missense	possibly damaging	0.93
R1669:Gapvd1	UTSW	2	34730682	critical splice acceptor site	probably null
R1677:Gapvd1	UTSW	2	34700761	critical splice donor site	probably null
R1812:Gapvd1	UTSW	2	34725064	nonsense	probably null
R1874:Gapvd1	UTSW	2	34706021	missense	probably damaging	1.00
R1878:Gapvd1	UTSW	2	34725200	missense	probably benign	0.00
R1974:Gapvd1	UTSW	2	34700841	missense	probably damaging	0.99
R2111:Gapvd1	UTSW	2	34684317	missense	probably benign	0.08
R2921:Gapvd1	UTSW	2	34688863	missense	probably damaging	0.97
R2923:Gapvd1	UTSW	2	34688863	missense	probably damaging	0.97
R3846:Gapvd1	UTSW	2	34729072	nonsense	probably null
R3894:Gapvd1	UTSW	2	34728476	missense	probably benign	0.23
R4405:Gapvd1	UTSW	2	34728735	missense	probably damaging	1.00
R4605:Gapvd1	UTSW	2	34728537	missense	probably damaging	1.00
R4770:Gapvd1	UTSW	2	34691181	missense	probably damaging	0.98
R4935:Gapvd1	UTSW	2	34704492	nonsense	probably null
R5218:Gapvd1	UTSW	2	34728476	missense	probably benign	0.23
R5490:Gapvd1	UTSW	2	34693433	missense	probably benign	0.23
R5571:Gapvd1	UTSW	2	34715253	missense	probably damaging	1.00
R5588:Gapvd1	UTSW	2	34709154	missense	probably damaging	1.00
R5933:Gapvd1	UTSW	2	34684291	missense	probably benign	0.27
R6117:Gapvd1	UTSW	2	34690459	splice site	probably null
R6661:Gapvd1	UTSW	2	34728438	missense	probably damaging	1.00
R6857:Gapvd1	UTSW	2	34728377	missense	probably damaging	1.00
R6950:Gapvd1	UTSW	2	34684245	missense	probably benign	0.04
R7009:Gapvd1	UTSW	2	34700817	missense	probably damaging	1.00
R7125:Gapvd1	UTSW	2	34695600	missense	probably benign
R7154:Gapvd1	UTSW	2	34725063	missense	probably damaging	1.00
R7316:Gapvd1	UTSW	2	34704669	missense	probably damaging	1.00
R7358:Gapvd1	UTSW	2	34690461	critical splice donor site	probably null
R7363:Gapvd1	UTSW	2	34712195	missense	probably benign	0.01
R7371:Gapvd1	UTSW	2	34717373	missense	probably benign
R7418:Gapvd1	UTSW	2	34725118	missense	probably benign	0.12
R7690:Gapvd1	UTSW	2	34729122	missense	possibly damaging	0.68
R7740:Gapvd1	UTSW	2	34700822	missense	probably damaging	1.00
R7742:Gapvd1	UTSW	2	34678623	missense	probably damaging	1.00
R7857:Gapvd1	UTSW	2	34729067	missense	probably benign	0.06
R8062:Gapvd1	UTSW	2	34678114	missense	probably benign	0.37
R8113:Gapvd1	UTSW	2	34704318	missense	probably damaging	0.98
R8303:Gapvd1	UTSW	2	34712200	missense	probably damaging	1.00
R8558:Gapvd1	UTSW	2	34704481	missense	probably damaging	1.00
R8751:Gapvd1	UTSW	2	34678066	missense	probably damaging	0.96
R8781:Gapvd1	UTSW	2	34720686	missense	probably benign	0.37
R8794:Gapvd1	UTSW	2	34704318	missense	possibly damaging	0.49
R8876:Gapvd1	UTSW	2	34678548	missense	possibly damaging	0.95
R8942:Gapvd1	UTSW	2	34729122	missense	probably benign	0.06
R8954:Gapvd1	UTSW	2	34678098	missense	probably damaging	1.00
R9066:Gapvd1	UTSW	2	34727285	missense	probably damaging	1.00
R9428:Gapvd1	UTSW	2	34717306	missense	probably damaging	1.00
R9470:Gapvd1	UTSW	2	34712268	missense	possibly damaging	0.78
R9505:Gapvd1	UTSW	2	34723014	missense
R9690:Gapvd1	UTSW	2	34728480	missense	probably damaging	1.00
Z1177:Gapvd1	UTSW	2	34699864	missense	possibly damaging	0.78

Posted On

2015-04-16