Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02573:Disp3'

299077

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Disp3

Ensembl Gene

ENSMUSG00000041544

Gene Name

dispatched RND transporter family member 3

Synonyms

Ptchd2, G630052C06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02573

Quality Score

Status

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148271449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 318 (D318V)

Ref Sequence

ENSEMBL: ENSMUSP00000038490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047720]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047720
AA Change: D318V

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

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: D318V

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
low complexity region	179	195	N/A	INTRINSIC
Pfam:Patched	362	735	2.2e-21	PFAM
Pfam:MMPL	366	590	3.1e-14	PFAM
Pfam:Sterol-sensing	435	588	1.1e-17	PFAM
Pfam:Patched	1121	1301	1.6e-7	PFAM
transmembrane domain	1314	1333	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl3	T	A	4: 99,037,934	W434R	probably damaging	Het
Atp7b	T	C	8: 22,022,470	Q344R	probably benign	Het
B4galt5	C	T	2: 167,305,062	R284Q	probably benign	Het
Ccdc80	T	G	16: 45,095,589	V236G	probably damaging	Het
Chd8	T	C	14: 52,219,734	I926V	possibly damaging	Het
Dgkz	A	C	2: 91,934,197	S1030R	probably damaging	Het
Ehd1	T	C	19: 6,294,300	S197P	probably damaging	Het
Emp1	A	G	6: 135,379,947	K42R	probably benign	Het
Fam71a	G	A	1: 191,163,870	T192I	probably damaging	Het
Gm4922	T	A	10: 18,783,675	D433V	probably benign	Het
Gsdma	T	C	11: 98,670,751		probably benign	Het
Hspbp1	G	T	7: 4,677,853	A208E	probably damaging	Het
Il5ra	A	T	6: 106,716,751	V342E	possibly damaging	Het
Kif13b	T	C	14: 64,803,431	F1660S	probably damaging	Het
Lvrn	A	G	18: 46,876,949	E388G	probably damaging	Het
Mettl17	G	A	14: 51,888,047		probably null	Het
Mgat5b	T	C	11: 116,977,714	Y488H	probably benign	Het
Mtr	A	T	13: 12,199,127	D886E	possibly damaging	Het
Naip6	A	T	13: 100,299,471	L848*	probably null	Het
Nav3	A	G	10: 109,866,974	S233P	probably benign	Het
Nme9	A	T	9: 99,470,855	D286V	probably benign	Het
Nod1	C	A	6: 54,943,945	A463S	probably benign	Het
Nthl1	A	G	17: 24,633,975	K51R	probably benign	Het
Olfr354	A	G	2: 36,907,554	I203V	probably damaging	Het
Olfr427	T	A	1: 174,100,130	V224D	possibly damaging	Het
Pcnx2	G	A	8: 125,855,273	A908V	probably benign	Het
Pdcd6	A	G	13: 74,303,979	Y181H	probably damaging	Het
Pde10a	A	C	17: 8,961,890	I719L	probably benign	Het
Pikfyve	T	A	1: 65,230,855		probably null	Het
Plekha5	G	T	6: 140,582,016	A396S	probably damaging	Het
Ppfia2	A	G	10: 106,828,928	T342A	probably damaging	Het
Rbck1	A	G	2: 152,322,167	I339T	possibly damaging	Het
Rbms2	A	T	10: 128,143,440	I140N	probably damaging	Het
Scn1b	A	T	7: 31,123,121	L78Q	possibly damaging	Het
Slc12a6	T	C	2: 112,358,641		probably null	Het
Slc25a30	A	T	14: 75,769,668		probably benign	Het
Slc30a7	C	T	3: 115,990,147		probably benign	Het
Slc5a10	C	A	11: 61,673,072	R546L	possibly damaging	Het
Stxbp4	T	C	11: 90,540,269	D405G	probably damaging	Het
Tm4sf19	A	C	16: 32,407,860	T156P	possibly damaging	Het
Tmem37	A	T	1: 120,067,989	D119E	probably damaging	Het
Tor1aip1	T	A	1: 156,013,371	N113I	probably damaging	Het
Ubac2	T	A	14: 121,907,390	Y87N	possibly damaging	Het
Usp29	A	T	7: 6,962,618		probably null	Het
Wdr92	T	C	11: 17,212,136	L58P	possibly damaging	Het
Zfp276	A	G	8: 123,264,997	E428G	probably damaging	Het

Other mutations in Disp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Disp3	APN	4	148241534	missense	probably benign	0.10
IGL01065:Disp3	APN	4	148261183	missense	probably damaging	1.00
IGL01800:Disp3	APN	4	148249801	nonsense	probably null
IGL01947:Disp3	APN	4	148260519	missense	probably damaging	1.00
IGL02510:Disp3	APN	4	148252701	missense	probably benign	0.00
IGL02728:Disp3	APN	4	148272038	missense	probably damaging	1.00
IGL02931:Disp3	APN	4	148249201	missense	possibly damaging	0.94
R0164:Disp3	UTSW	4	148254251	missense	probably damaging	0.96
R0164:Disp3	UTSW	4	148254251	missense	probably damaging	0.96
R0257:Disp3	UTSW	4	148250754	missense	possibly damaging	0.87
R0409:Disp3	UTSW	4	148271959	missense	probably damaging	1.00
R0557:Disp3	UTSW	4	148241404	missense	possibly damaging	0.64
R0576:Disp3	UTSW	4	148241590	missense	possibly damaging	0.89
R1495:Disp3	UTSW	4	148249825	missense	probably benign	0.00
R1526:Disp3	UTSW	4	148259916	missense	probably benign	0.00
R1791:Disp3	UTSW	4	148241518	missense	probably damaging	1.00
R1856:Disp3	UTSW	4	148271632	missense	probably damaging	1.00
R1987:Disp3	UTSW	4	148258753	missense	probably damaging	0.97
R2030:Disp3	UTSW	4	148259966	missense	probably damaging	1.00
R2271:Disp3	UTSW	4	148271602	missense	possibly damaging	0.87
R2373:Disp3	UTSW	4	148258795	missense	probably damaging	1.00
R2566:Disp3	UTSW	4	148241423	missense	probably damaging	1.00
R3731:Disp3	UTSW	4	148252827	missense	probably benign	0.03
R4359:Disp3	UTSW	4	148271932	missense	probably benign	0.03
R4762:Disp3	UTSW	4	148272118	missense	probably damaging	1.00
R4950:Disp3	UTSW	4	148258126	missense	possibly damaging	0.94
R4975:Disp3	UTSW	4	148244216	missense	possibly damaging	0.79
R5218:Disp3	UTSW	4	148242876	missense	possibly damaging	0.88
R5523:Disp3	UTSW	4	148258097	missense	probably benign	0.14
R5556:Disp3	UTSW	4	148258157	missense	probably benign	0.14
R5857:Disp3	UTSW	4	148249183	missense	probably benign	0.01
R5933:Disp3	UTSW	4	148241313	nonsense	probably null
R5994:Disp3	UTSW	4	148254284	missense	possibly damaging	0.94
R6362:Disp3	UTSW	4	148254308	missense	possibly damaging	0.95
R6813:Disp3	UTSW	4	148259930	missense	probably benign	0.09
R7211:Disp3	UTSW	4	148241522	missense	probably damaging	0.98
R7470:Disp3	UTSW	4	148261070	missense	possibly damaging	0.88
R7535:Disp3	UTSW	4	148242866	missense	probably damaging	0.99
R8093:Disp3	UTSW	4	148270516	missense	possibly damaging	0.93
R8357:Disp3	UTSW	4	148261115	missense	possibly damaging	0.86
R8457:Disp3	UTSW	4	148261115	missense	possibly damaging	0.86
R8506:Disp3	UTSW	4	148241570	missense	possibly damaging	0.77
R9182:Disp3	UTSW	4	148270384	missense	probably damaging	1.00
R9219:Disp3	UTSW	4	148249860	missense	possibly damaging	0.74
R9680:Disp3	UTSW	4	148271644	missense	probably damaging	1.00
R9696:Disp3	UTSW	4	148261154	missense	probably damaging	0.97
Z1088:Disp3	UTSW	4	148271743	missense	possibly damaging	0.63
Z1176:Disp3	UTSW	4	148250957	missense	probably damaging	1.00
Z1177:Disp3	UTSW	4	148249746	missense	probably damaging	1.00
Z1177:Disp3	UTSW	4	148249847	missense	probably benign	0.01
Z1177:Disp3	UTSW	4	148250714	missense	probably damaging	1.00
Z1177:Disp3	UTSW	4	148270567	nonsense	probably null

Posted On

2015-04-16