Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02728:Disp3'

305301

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 #

IGL02728

Quality Score

Status

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148272038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 122 (S122P)

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: S122P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: S122P

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,191,827		probably benign	Het
Als2	A	G	1: 59,196,347	V726A	probably benign	Het
Apba1	G	A	19: 23,944,905	G779E	possibly damaging	Het
Atr	T	A	9: 95,936,475	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,826,503	K566E	probably damaging	Het
Btd	T	C	14: 31,667,362	F347L	probably benign	Het
Btg2	T	C	1: 134,078,905		probably benign	Het
Cblb	T	A	16: 52,183,309	S717T	probably benign	Het
Cep250	T	A	2: 155,983,278		probably benign	Het
Cep350	T	C	1: 155,953,222	N312S	probably benign	Het
Clasp1	A	T	1: 118,602,377	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,984,104	C2906S	probably benign	Het
Csmd1	C	T	8: 15,999,779		probably null	Het
Cspg4	T	A	9: 56,886,481	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,072,575	D469V	probably damaging	Het
Dhh	A	T	15: 98,894,311		probably null	Het
Dhrs3	A	G	4: 144,920,072	R231G	probably damaging	Het
Dnah1	T	C	14: 31,283,998	I2275V	probably benign	Het
Dock8	A	C	19: 25,132,220	N922T	probably benign	Het
Eef1d	A	G	15: 75,903,096	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,273,482	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,686,752		probably benign	Het
Emb	A	G	13: 117,232,765	M50V	probably benign	Het
Eml4	T	C	17: 83,473,139		probably null	Het
Fkbp10	G	T	11: 100,415,977	R65L	probably damaging	Het
Gm10436	G	T	12: 88,176,022	H275Q	probably benign	Het
Gm5878	T	C	6: 85,118,592	N83S	probably benign	Het
Gm8165	C	T	14: 43,676,237	A57T	unknown	Het
Gpr179	A	G	11: 97,337,900	V1143A	probably damaging	Het
Hat1	T	C	2: 71,421,260	Y218H	probably damaging	Het
Hfm1	T	A	5: 106,878,823	N885I	probably benign	Het
Inha	T	C	1: 75,509,447	S129P	probably damaging	Het
Ints9	T	C	14: 64,993,008	I128T	probably damaging	Het
Klra9	T	C	6: 130,191,186		probably null	Het
Lrba	A	G	3: 86,776,049	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,801,398	N3356D	probably benign	Het
Map3k5	A	G	10: 20,118,292	D1008G	possibly damaging	Het
Med4	T	A	14: 73,517,975	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,338,742	V254A	possibly damaging	Het
Napg	C	T	18: 62,994,304		probably benign	Het
Olfr173	C	T	16: 58,797,480	R122H	probably benign	Het
Olfr339	T	C	2: 36,422,144	S249P	possibly damaging	Het
Olfr823	T	A	10: 130,112,618	R57S	probably damaging	Het
Olfr853	A	G	9: 19,537,846	F28S	possibly damaging	Het
Olfr924	T	C	9: 38,848,926	S271P	probably damaging	Het
Pias1	T	A	9: 62,923,644	S161C	probably damaging	Het
Pias1	G	T	9: 62,923,645	N160K	possibly damaging	Het
Pigp	G	A	16: 94,367,607	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,092,327	V1070E	probably benign	Het
Prepl	T	C	17: 85,070,582	T457A	probably damaging	Het
Psg23	G	A	7: 18,606,928	A467V	probably benign	Het
Rad54l	T	C	4: 116,122,949	R13G	probably benign	Het
Rassf5	T	C	1: 131,180,599	D248G	probably damaging	Het
Rspo1	A	G	4: 125,005,162	N92S	probably damaging	Het
Scube1	G	A	15: 83,659,016		probably benign	Het
Sec31b	C	A	19: 44,523,115	V616F	probably damaging	Het
Sema3a	T	C	5: 13,565,914	V435A	probably damaging	Het
Slc7a10	T	A	7: 35,197,698	I208N	probably damaging	Het
Stab2	A	T	10: 86,856,556	M2151K	possibly damaging	Het
Tacc1	T	C	8: 25,175,219	D50G	probably damaging	Het
Tas2r121	G	T	6: 132,700,517	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,704,715	W570R	probably damaging	Het
Telo2	A	T	17: 25,104,654	F600I	probably damaging	Het
Trim36	T	A	18: 46,172,602	H426L	probably benign	Het
Trpm6	A	T	19: 18,809,652	N531Y	possibly damaging	Het
Ttc30a1	T	A	2: 75,980,849	M297L	probably benign	Het
Ttc39a	T	C	4: 109,442,723	C470R	probably damaging	Het
Ttn	C	T	2: 76,784,939	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,468,811	I1253F	probably damaging	Het
Unc79	A	T	12: 103,122,429	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,715,016	C89S	probably benign	Het
Wdr55	A	G	18: 36,763,382	E375G	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
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