Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02931:Disp3'

364110

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 #

IGL02931

Quality Score

Status

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 148249201 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 1060 (S1060F)

Ref Sequence

ENSEMBL: ENSMUSP00000038490 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047720
AA Change: S1060F

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: S1060F

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,079,012	R254Q	probably benign	Het
Adgrv1	T	C	13: 81,579,714	Y269C	probably damaging	Het
Apol7a	C	A	15: 77,393,450	E33*	probably null	Het
Arhgap29	T	C	3: 121,992,860	V358A	probably benign	Het
B3galt1	T	C	2: 68,118,384	S148P	probably damaging	Het
BC061237	A	G	14: 44,503,322	N60D	possibly damaging	Het
Bcl9l	C	T	9: 44,500,750	P11L	probably damaging	Het
Ccdc89	A	C	7: 90,426,902	K107Q	probably benign	Het
Col27a1	T	C	4: 63,331,426		probably benign	Het
Col5a2	T	C	1: 45,385,065	D1067G	probably damaging	Het
Col9a2	A	T	4: 121,053,192	R511S	probably benign	Het
Dusp8	T	C	7: 142,082,930	T308A	probably benign	Het
Ern1	T	C	11: 106,423,440	N178S	probably damaging	Het
Gas6	C	A	8: 13,477,136	C204F	probably damaging	Het
Gga1	T	C	15: 78,893,322	S558P	possibly damaging	Het
Gli1	T	C	10: 127,332,410	T525A	probably benign	Het
Gm428	G	A	4: 73,687,365	A338T	probably damaging	Het
Gse1	A	G	8: 120,578,069		probably benign	Het
Hmcn1	G	A	1: 150,657,207	S3075L	probably benign	Het
Hnf4a	G	A	2: 163,566,117		probably benign	Het
Htt	A	T	5: 34,876,753	E1894D	probably damaging	Het
Kcnh8	G	A	17: 52,956,622	E716K	probably benign	Het
Kntc1	A	G	5: 123,799,811	Y1524C	probably damaging	Het
Krtap9-5	A	G	11: 99,949,105	T211A	unknown	Het
Lin54	T	C	5: 100,480,321	I8V	possibly damaging	Het
Lipe	A	G	7: 25,383,335		probably benign	Het
Lpin2	T	A	17: 71,238,683	V508E	probably damaging	Het
Lrrc9	C	A	12: 72,454,149	H216Q	probably damaging	Het
Lrrn1	T	C	6: 107,567,748	L169P	probably damaging	Het
Map9	C	A	3: 82,377,121	T334K	possibly damaging	Het
Mst1	A	T	9: 108,084,642		probably null	Het
Mtor	T	A	4: 148,464,964	F602I	probably benign	Het
Mylpf	T	A	7: 127,213,626	D98E	probably benign	Het
Naca	C	A	10: 128,047,682	Q2059K	probably damaging	Het
Nefh	G	A	11: 4,941,356	T421I	possibly damaging	Het
Nlrp4g	T	A	9: 124,348,940		noncoding transcript	Het
Npat	C	T	9: 53,571,041	Q1350*	probably null	Het
Oaz3	T	C	3: 94,434,980	N123S	probably benign	Het
Patj	A	G	4: 98,411,173		probably benign	Het
Piezo1	A	C	8: 122,483,519	D2224E	probably damaging	Het
Pnpla7	A	T	2: 25,015,229	I610F	possibly damaging	Het
Psapl1	A	T	5: 36,204,889	D275V	probably damaging	Het
Ptpdc1	T	A	13: 48,590,619		probably benign	Het
Rac2	T	C	15: 78,570,747	E31G	possibly damaging	Het
Sdhc	T	C	1: 171,143,555		probably benign	Het
Smim23	G	T	11: 32,820,667	P80T	probably damaging	Het
Snupn	C	T	9: 56,957,080	T21I	probably benign	Het
Tjp2	A	G	19: 24,096,632	V1097A	probably benign	Het
Tmem8	T	A	17: 26,117,949	F280L	probably benign	Het
Ttc16	A	G	2: 32,771,927	Y164H	probably damaging	Het
Txlnb	A	G	10: 17,827,982	E296G	probably damaging	Het
Ube2l6	G	A	2: 84,802,851	V34M	probably damaging	Het
Vwf	A	C	6: 125,615,968	S764R	possibly damaging	Het
Zfand3	A	G	17: 30,192,637	S146G	probably benign	Het
Zfp280d	T	G	9: 72,296,025	F18L	probably benign	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
IGL02573:Disp3	APN	4	148271449	missense	probably damaging	1.00
IGL02728:Disp3	APN	4	148272038	missense	probably damaging	1.00
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

2015-12-18