Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01800:Disp3'

155498

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01800

Quality Score

Status

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 148249801 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1012 (K1012*)

Ref Sequence

ENSEMBL: ENSMUSP00000038490 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000047720
AA Change: K1012*

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: K1012*

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,784,295	Y48C	possibly damaging	Het
Acsm3	T	C	7: 119,774,643	S251P	possibly damaging	Het
Ano5	G	A	7: 51,573,075		probably null	Het
Ccdc65	C	T	15: 98,709,065	A51V	probably benign	Het
Cspg5	A	G	9: 110,251,150		probably benign	Het
Dhx30	A	G	9: 110,085,513	V935A	possibly damaging	Het
Dock2	T	C	11: 34,756,273	N18S	probably damaging	Het
Dst	A	T	1: 34,262,092	I1180F	probably damaging	Het
Elp2	A	G	18: 24,617,491	Y295C	probably benign	Het
Eml2	A	G	7: 19,201,197		probably benign	Het
Fat4	A	G	3: 38,981,729	T3177A	probably damaging	Het
Flrt2	A	T	12: 95,779,688	I267F	probably damaging	Het
Gm5611	T	G	9: 17,030,471		noncoding transcript	Het
Gstcd	A	G	3: 133,084,574		probably null	Het
Gucy1b2	T	C	14: 62,411,655	M476V	probably benign	Het
Jak2	A	G	19: 29,286,293		probably benign	Het
Kcnt1	T	C	2: 25,888,125	F85S	probably damaging	Het
Kcnu1	G	A	8: 25,937,500	V282M	probably damaging	Het
Lancl1	T	G	1: 67,020,870	E132A	probably benign	Het
Olfr1288	T	C	2: 111,478,864	F27L	probably benign	Het
Olfr1459	A	G	19: 13,146,629	F10S	probably damaging	Het
Pigm	G	A	1: 172,377,203	A169T	probably damaging	Het
Ppargc1a	A	G	5: 51,494,721	Y212H	probably damaging	Het
Ppp1r13l	A	T	7: 19,378,011		probably benign	Het
Pramef8	T	C	4: 143,419,080	L373P	probably damaging	Het
Rictor	T	C	15: 6,774,701	I554T	probably damaging	Het
Sbno1	G	A	5: 124,381,505		probably benign	Het
Sesn2	G	T	4: 132,499,107	L194I	probably damaging	Het
Slc26a2	A	T	18: 61,201,729	Y217*	probably null	Het
Sptbn5	G	T	2: 120,056,427		probably benign	Het
Tmem184a	A	T	5: 139,813,144	S17T	possibly damaging	Het
Trhr	T	C	15: 44,229,207	M280T	possibly damaging	Het
Ube2j1	A	T	4: 33,045,115	E129D	probably benign	Het
Ube4b	A	T	4: 149,331,494	S3T	probably damaging	Het
Vmn2r49	A	T	7: 9,976,674	C710*	probably null	Het
Vmn2r82	C	T	10: 79,356,747	R53C	probably benign	Het
Zdhhc2	T	C	8: 40,464,243	L227P	probably damaging	Het
Zfp995	A	C	17: 21,880,991	H87Q	possibly 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
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
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

2014-02-04