Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00092:Disp3'

1687

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 #

IGL00092

Quality Score

Status

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 148241534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1256 (V1256I)

Ref Sequence

ENSEMBL: ENSMUSP00000038490 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047720
AA Change: V1256I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: V1256I

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,928,695	D443G	probably benign	Het
Atg16l1	T	C	1: 87,765,397	I28T	possibly damaging	Het
Bpi	T	A	2: 158,274,796	V371E	probably damaging	Het
Cd109	T	G	9: 78,616,969	V55G	probably damaging	Het
Cd300c2	T	C	11: 115,001,549		probably benign	Het
Cic	C	T	7: 25,292,124	R1280C	probably damaging	Het
Cngb1	G	A	8: 95,242,184		probably benign	Het
Cntn4	G	T	6: 106,506,225	C247F	probably damaging	Het
Farsb	A	T	1: 78,462,993	S338T	probably benign	Het
Fcnb	T	C	2: 28,076,801	N240S	probably benign	Het
Flg2	A	G	3: 93,219,855	S5G	possibly damaging	Het
Git1	T	C	11: 77,505,957	L635P	probably benign	Het
Gm21985	T	G	2: 112,351,334	W685G	probably damaging	Het
Gpt2	T	C	8: 85,512,324	V262A	probably benign	Het
Hecw2	A	G	1: 53,830,737	V1444A	probably damaging	Het
Herc1	T	C	9: 66,483,966	V4017A	probably benign	Het
Klhl17	T	C	4: 156,233,690	T129A	possibly damaging	Het
Krt84	T	G	15: 101,528,735	D331A	probably damaging	Het
Lrrc9	C	T	12: 72,486,243	T963M	possibly damaging	Het
Mtcl1	C	T	17: 66,344,319	V935I	probably benign	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Myocd	T	C	11: 65,180,944		probably null	Het
Nid1	A	G	13: 13,476,392	N505D	probably damaging	Het
Ninj1	A	T	13: 49,193,734		probably null	Het
Olfr1375	C	A	11: 51,048,400	Q98K	probably benign	Het
Olfr1426	A	T	19: 12,087,993	D266E	probably benign	Het
Olfr307	C	T	7: 86,336,061	V112I	probably benign	Het
Plscr2	T	A	9: 92,290,632		probably benign	Het
Ppfia2	A	G	10: 106,819,492	T307A	probably benign	Het
Sart3	T	C	5: 113,746,669	R625G	probably benign	Het
Sohlh2	T	A	3: 55,207,815	L407H	probably damaging	Het
Sorcs1	A	G	19: 50,190,054	S877P	probably damaging	Het
Stat1	T	C	1: 52,122,595	M1T	probably null	Het
Szt2	C	T	4: 118,384,250		probably benign	Het
Tarsl2	G	T	7: 65,652,259		probably null	Het
Terb2	T	A	2: 122,198,386	S141R	probably benign	Het
Tgfbrap1	T	C	1: 43,060,123	Y177C	probably damaging	Het
Trappc9	A	T	15: 73,026,026	I169N	possibly damaging	Het
Trim47	A	G	11: 116,106,194	L578P	probably damaging	Het
Usp34	G	A	11: 23,436,020	R2149H	probably damaging	Het
Vmn2r90	T	C	17: 17,733,496	S641P	probably benign	Het
Vwa5a	T	A	9: 38,737,814		probably null	Het
Zzef1	T	A	11: 72,875,126	I1493N	probably benign	Het

Other mutations in Disp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02573:Disp3	APN	4	148271449	missense	probably damaging	1.00
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

2011-07-12