Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01065:Disp3'

50840

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 #

IGL01065

Quality Score

Status

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148261183 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 400 (Y400C)

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: Y400C

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

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: Y400C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143851

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Apob	A	G	12: 8,003,299	Y1247C	probably damaging	Het
Atg16l1	A	T	1: 87,785,931	N401I	probably damaging	Het
Bcam	T	C	7: 19,756,799	H591R	probably benign	Het
Bcat1	T	C	6: 145,000,289	S446G	possibly damaging	Het
C2cd5	A	G	6: 143,078,279	S262P	probably damaging	Het
Clrn1	T	C	3: 58,885,025	K6E	probably damaging	Het
D17H6S53E	A	T	17: 35,127,283	K57*	probably null	Het
Dennd1a	T	A	2: 37,844,905	I17F	probably benign	Het
Depdc7	A	C	2: 104,722,081	Y460*	probably null	Het
Edem3	T	C	1: 151,777,551	Y203H	probably damaging	Het
Fam71a	T	C	1: 191,163,027	D473G	probably benign	Het
Fbxl5	A	G	5: 43,745,334	C679R	probably damaging	Het
Fhad1	T	C	4: 141,905,612	T1194A	probably benign	Het
Gipc2	A	G	3: 152,102,657	L253P	possibly damaging	Het
Gpr26	T	C	7: 131,967,501	Y192H	probably damaging	Het
Hoxb6	A	G	11: 96,300,809	T186A	probably damaging	Het
Kif24	A	G	4: 41,423,639		probably benign	Het
Lonp1	T	C	17: 56,615,500		probably benign	Het
Lrp1	A	G	10: 127,575,038	I1427T	probably benign	Het
Lrp2	C	T	2: 69,469,436	E3091K	possibly damaging	Het
Lzts1	T	C	8: 69,136,092	N404S	probably benign	Het
Map3k4	A	T	17: 12,232,990	D1470E	probably damaging	Het
Med30	A	T	15: 52,721,060	N125Y	probably benign	Het
Mgam	G	A	6: 40,662,710		probably null	Het
Mrps33	G	A	6: 39,802,513	R83*	probably null	Het
Notch3	A	T	17: 32,146,416	Y1107*	probably null	Het
Rc3h2	T	A	2: 37,377,844		probably benign	Het
Rev1	T	C	1: 38,099,009	E65G	possibly damaging	Het
Rgl1	T	C	1: 152,519,142	N760S	probably damaging	Het
Slc16a4	T	C	3: 107,303,100	I362T	possibly damaging	Het
Slc25a24	G	A	3: 109,158,651		probably benign	Het
Slc2a4	G	T	11: 69,945,956		probably benign	Het
Slc39a13	T	A	2: 91,063,706	I256F	probably damaging	Het
Spdya	A	T	17: 71,556,325	N23I	possibly damaging	Het
Srpr	T	A	9: 35,213,438	W112R	probably damaging	Het
Tbc1d4	A	C	14: 101,449,193		probably benign	Het
Ttc39d	G	A	17: 80,216,274	G121R	probably damaging	Het
Tuba3a	C	T	6: 125,282,957	V9M	possibly damaging	Het
Upf2	A	G	2: 5,961,300	K244E	unknown	Het
Usp39	T	C	6: 72,339,975	Y141C	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
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

2013-06-21