Mutagenetix > Incidental Mutation

Incidental Mutation 'R4672:Disp1'

348491

Institutional Source

Beutler Lab

Gene Symbol

Disp1

Ensembl Gene

ENSMUSG00000030768

Gene Name

dispatched RND transporter family member 1

Synonyms

DispA, 1190008H24Rik

MMRRC Submission

041927-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R4672 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182867830-183003086 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 182880215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003035] [ENSMUST00000171366] [ENSMUST00000195372]

AlphaFold

Q3TDN0

Predicted Effect

probably null
Transcript: ENSMUST00000003035

SMART Domains

Protein: ENSMUSP00000003035
Gene: ENSMUSG00000030768

Domain	Start	End	E-Value	Type
low complexity region	11	35	N/A	INTRINSIC
low complexity region	71	89	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
Pfam:Patched	279	765	6.8e-20	PFAM
Pfam:MMPL	496	691	6.6e-13	PFAM
Pfam:Sterol-sensing	518	670	1.7e-15	PFAM
Pfam:Patched	916	1130	8e-11	PFAM
Pfam:MMPL	937	1144	3.9e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000171366

SMART Domains

Protein: ENSMUSP00000126742
Gene: ENSMUSG00000030768

Domain	Start	End	E-Value	Type
low complexity region	11	35	N/A	INTRINSIC
low complexity region	71	89	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
Pfam:Patched	272	766	2.6e-20	PFAM
Pfam:MMPL	496	691	6.6e-13	PFAM
Pfam:Sterol-sensing	516	671	2.2e-15	PFAM
Pfam:Patched	921	1130	8.7e-11	PFAM
Pfam:MMPL	937	1144	3.9e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192915

Predicted Effect

probably null
Transcript: ENSMUST00000195372

SMART Domains

Protein: ENSMUSP00000141747
Gene: ENSMUSG00000030768

Domain	Start	End	E-Value	Type
low complexity region	11	35	N/A	INTRINSIC
low complexity region	71	89	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
Pfam:Patched	272	766	2.6e-20	PFAM
Pfam:MMPL	496	691	6.6e-13	PFAM
Pfam:Sterol-sensing	516	671	2.2e-15	PFAM
Pfam:Patched	921	1130	8.7e-11	PFAM
Pfam:MMPL	937	1144	3.9e-9	PFAM

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (113/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted and chemically induced mutations exhibit a dorsalized neural tube, impaired heart looping, pericardial edema, large forelimbs, and abnormal head shape. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,962,702 (GRCm39)	L483F	possibly damaging	Het
Abca8b	A	G	11: 109,827,274 (GRCm39)	F1507L	possibly damaging	Het
Adamdec1	C	A	14: 68,815,353 (GRCm39)	E104*	probably null	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Alppl2	T	C	1: 87,017,187 (GRCm39)		probably benign	Het
Aplnr	A	G	2: 84,967,524 (GRCm39)	Y183C	probably damaging	Het
Atm	G	A	9: 53,433,501 (GRCm39)	R250W	probably damaging	Het
B4galt7	T	C	13: 55,757,132 (GRCm39)	L275P	probably damaging	Het
Bltp1	A	G	3: 36,944,139 (GRCm39)	*330W	probably null	Het
Ccdc178	G	A	18: 22,283,501 (GRCm39)	Q10*	probably null	Het
Ccr9	T	C	9: 123,608,752 (GRCm39)	Y145H	probably damaging	Het
Cd209f	C	T	8: 4,153,685 (GRCm39)	G188D	probably damaging	Het
Cep70	T	A	9: 99,136,365 (GRCm39)	S23T	possibly damaging	Het
Cpped1	C	A	16: 11,623,238 (GRCm39)	E294*	probably null	Het
Crisp1	T	A	17: 40,605,404 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,935,743 (GRCm39)	M624L	probably damaging	Het
Elf2	A	G	3: 51,163,855 (GRCm39)	V558A	probably damaging	Het
Eno2	T	C	6: 124,743,109 (GRCm39)	D209G	probably damaging	Het
Fam187b	G	A	7: 30,676,968 (GRCm39)	R159H	probably damaging	Het
Fh1	G	A	1: 175,431,617 (GRCm39)	A423V	probably benign	Het
Frg1	C	T	8: 41,853,846 (GRCm39)	D164N	probably benign	Het
Fsbp	T	G	4: 11,579,841 (GRCm39)	N36K	probably benign	Het
Gcn1	A	G	5: 115,744,579 (GRCm39)	T1592A	probably damaging	Het
Gimap3	A	G	6: 48,742,687 (GRCm39)	I81T	probably damaging	Het
Gjb6	C	T	14: 57,362,235 (GRCm39)	V9I	probably benign	Het
Gkap1	T	C	13: 58,411,770 (GRCm39)	S68G	possibly damaging	Het
Gpatch8	A	T	11: 102,369,784 (GRCm39)	S1251R	probably damaging	Het
Gria4	A	G	9: 4,664,981 (GRCm39)	F92L	possibly damaging	Het
H2-Q1	C	A	17: 35,539,906 (GRCm39)	D58E	probably damaging	Het
Hs1bp3	G	T	12: 8,391,983 (GRCm39)	G362*	probably null	Het
Igfn1	T	A	1: 135,893,107 (GRCm39)	H2114L	possibly damaging	Het
Igkv12-98	A	G	6: 68,547,940 (GRCm39)	Q22R	probably benign	Het
Ing3	A	G	6: 21,965,729 (GRCm39)		probably null	Het
Insr	C	T	8: 3,217,501 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,941,630 (GRCm39)	S374P	probably benign	Het
Kif14	A	C	1: 136,449,016 (GRCm39)	Q1472P	probably benign	Het
Kif14	G	T	1: 136,449,017 (GRCm39)	Q1472H	probably benign	Het
Knstrn	A	G	2: 118,664,512 (GRCm39)	E202G	probably damaging	Het
Knstrn	G	T	2: 118,664,513 (GRCm39)	E202D	possibly damaging	Het
Krt12	A	G	11: 99,309,509 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,771,897 (GRCm39)	I195F	possibly damaging	Het
Lima1	T	C	15: 99,741,590 (GRCm39)	N29D	probably damaging	Het
Liph	T	C	16: 21,802,806 (GRCm39)	I88V	probably benign	Het
Lrrk1	A	G	7: 65,929,120 (GRCm39)	S86P	probably benign	Het
Lsamp	A	G	16: 41,775,697 (GRCm39)	R166G	probably damaging	Het
Mamdc2	T	A	19: 23,328,148 (GRCm39)	N407Y	probably damaging	Het
Mast3	CATA	CA	8: 71,237,441 (GRCm39)		probably null	Het
Megf6	T	A	4: 154,333,909 (GRCm39)	N212K	probably damaging	Het
Met	A	C	6: 17,571,803 (GRCm39)	D1374A	probably benign	Het
Mrc2	A	G	11: 105,233,923 (GRCm39)	T902A	probably benign	Het
Mroh3	T	A	1: 136,118,713 (GRCm39)	T535S	probably benign	Het
Muc1	G	T	3: 89,139,384 (GRCm39)	V595L	probably damaging	Het
Myh2	T	A	11: 67,079,303 (GRCm39)	L957Q	probably damaging	Het
Myorg	T	A	4: 41,499,061 (GRCm39)	M190L	probably benign	Het
Ncl	A	T	1: 86,284,324 (GRCm39)	D257E	probably benign	Het
Nipbl	T	A	15: 8,332,468 (GRCm39)	D2263V	probably damaging	Het
Optc	C	A	1: 133,825,555 (GRCm39)	V324L	possibly damaging	Het
Or4k15	A	G	14: 50,364,714 (GRCm39)	N227D	probably benign	Het
Or4k42	A	T	2: 111,319,902 (GRCm39)	N200K	possibly damaging	Het
Or7g35	A	G	9: 19,496,726 (GRCm39)	K298E	possibly damaging	Het
Osbpl9	A	G	4: 108,921,806 (GRCm39)	I604T	possibly damaging	Het
Otog	C	A	7: 45,939,210 (GRCm39)	A2080D	probably damaging	Het
Parp6	G	C	9: 59,547,393 (GRCm39)	R460P	probably damaging	Het
Phactr4	G	T	4: 132,098,017 (GRCm39)	P417Q	probably damaging	Het
Pigt	T	C	2: 164,339,498 (GRCm39)		probably benign	Het
Plekha5	A	G	6: 140,470,655 (GRCm39)	I99V	probably damaging	Het
Plxna3	T	G	X: 73,382,554 (GRCm39)		probably null	Het
Ppp2r1b	G	A	9: 50,779,019 (GRCm39)	M362I	probably damaging	Het
Pramel34	T	A	5: 93,784,182 (GRCm39)	R230S	probably damaging	Het
Rad51	A	G	2: 118,954,327 (GRCm39)	I136V	probably benign	Het
Rad54b	T	A	4: 11,609,449 (GRCm39)	H633Q	probably benign	Het
Rasal2	A	G	1: 157,071,231 (GRCm39)	F41S	probably benign	Het
Reep3	T	A	10: 66,857,629 (GRCm39)	H154L	probably benign	Het
Rp1l1	T	G	14: 64,268,719 (GRCm39)	V1435G	probably damaging	Het
Rps6ka5	C	A	12: 100,620,546 (GRCm39)	K125N	possibly damaging	Het
Rsad1	A	T	11: 94,434,444 (GRCm39)	M330K	probably damaging	Het
Scand1	A	G	2: 156,153,850 (GRCm39)		probably null	Het
Setd6	A	G	8: 96,444,640 (GRCm39)	H111R	probably null	Het
Slc27a3	T	C	3: 90,294,953 (GRCm39)	N368S	possibly damaging	Het
Slc38a2	T	C	15: 96,596,518 (GRCm39)	T32A	probably benign	Het
Smg7	A	G	1: 152,721,164 (GRCm39)	S683P	probably damaging	Het
Smyd2	A	T	1: 189,642,101 (GRCm39)	L62M	probably damaging	Het
Sox5	T	C	6: 143,779,075 (GRCm39)	Y687C	probably damaging	Het
Spaca6	T	A	17: 18,057,005 (GRCm39)	C53*	probably null	Het
Spata31e4	T	C	13: 50,857,208 (GRCm39)	Y949H	probably benign	Het
Spire2	T	C	8: 124,084,850 (GRCm39)	V230A	probably benign	Het
Sptbn2	G	T	19: 4,782,524 (GRCm39)	V487L	probably benign	Het
Stk3	T	A	15: 35,099,603 (GRCm39)	I110L	probably benign	Het
Stox2	T	A	8: 47,645,141 (GRCm39)	Y773F	probably damaging	Het
Tbrg1	C	A	9: 37,562,632 (GRCm39)	A259S	probably damaging	Het
Tnfsf18	C	A	1: 161,331,307 (GRCm39)	D152E	probably benign	Het
Tpr	G	A	1: 150,299,318 (GRCm39)	A1173T	probably benign	Het
Trrap	T	C	5: 144,722,290 (GRCm39)	L271P	probably damaging	Het
Ttn	G	T	2: 76,657,419 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,198 (GRCm39)	S192P	possibly damaging	Het
Ubr4	C	T	4: 139,138,027 (GRCm39)	S1128L	probably damaging	Het
Ucma	G	A	2: 4,981,465 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,569,522 (GRCm39)	D1401E	probably benign	Het
Usp54	A	T	14: 20,631,597 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,056 (GRCm39)	Y270H	probably damaging	Het
Vmn1r90	T	A	7: 14,295,493 (GRCm39)	T202S	probably benign	Het
Vmn2r88	A	G	14: 51,655,612 (GRCm39)	Y616C	probably damaging	Het
Vmn2r95	T	A	17: 18,672,413 (GRCm39)	W717R	probably damaging	Het
Zcchc4	C	A	5: 52,953,947 (GRCm39)	T209K	probably benign	Het
Zfp955b	T	A	17: 33,524,233 (GRCm39)		probably benign	Het

Other mutations in Disp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB006:Disp1	UTSW	1	182,917,103 (GRCm39)	missense	probably benign
BB016:Disp1	UTSW	1	182,917,103 (GRCm39)	missense	probably benign
R1120:Disp1	UTSW	1	182,880,139 (GRCm39)	missense	probably benign	0.24
R1482:Disp1	UTSW	1	182,868,038 (GRCm39)	missense	possibly damaging	0.61
R1655:Disp1	UTSW	1	182,868,568 (GRCm39)	missense	probably benign	0.01
R1660:Disp1	UTSW	1	182,869,306 (GRCm39)	missense	probably damaging	1.00
R1816:Disp1	UTSW	1	182,880,139 (GRCm39)	missense	probably damaging	0.99
R1835:Disp1	UTSW	1	182,870,564 (GRCm39)	missense	probably damaging	1.00
R1954:Disp1	UTSW	1	182,870,107 (GRCm39)	missense	probably damaging	0.99
R2025:Disp1	UTSW	1	182,869,767 (GRCm39)	missense	probably damaging	1.00
R2136:Disp1	UTSW	1	182,869,942 (GRCm39)	missense	probably damaging	1.00
R2150:Disp1	UTSW	1	182,869,936 (GRCm39)	missense	probably damaging	1.00
R2207:Disp1	UTSW	1	182,869,906 (GRCm39)	missense	possibly damaging	0.94
R2392:Disp1	UTSW	1	182,868,731 (GRCm39)	missense	probably benign
R2831:Disp1	UTSW	1	182,870,883 (GRCm39)	small deletion	probably benign
R3111:Disp1	UTSW	1	182,869,087 (GRCm39)	missense	probably damaging	1.00
R3116:Disp1	UTSW	1	182,870,486 (GRCm39)	missense	probably benign	0.01
R3160:Disp1	UTSW	1	182,868,806 (GRCm39)	missense	probably benign	0.09
R3161:Disp1	UTSW	1	182,868,806 (GRCm39)	missense	probably benign	0.09
R3162:Disp1	UTSW	1	182,868,806 (GRCm39)	missense	probably benign	0.09
R3162:Disp1	UTSW	1	182,868,806 (GRCm39)	missense	probably benign	0.09
R3716:Disp1	UTSW	1	182,869,315 (GRCm39)	missense	probably damaging	1.00
R3914:Disp1	UTSW	1	182,870,666 (GRCm39)	missense	probably benign	0.05
R4061:Disp1	UTSW	1	182,869,264 (GRCm39)	missense	probably damaging	0.96
R4191:Disp1	UTSW	1	182,870,737 (GRCm39)	missense	probably damaging	1.00
R4261:Disp1	UTSW	1	182,870,950 (GRCm39)	missense	probably damaging	1.00
R4272:Disp1	UTSW	1	182,869,208 (GRCm39)	missense	possibly damaging	0.95
R4273:Disp1	UTSW	1	182,869,208 (GRCm39)	missense	possibly damaging	0.95
R4351:Disp1	UTSW	1	182,881,542 (GRCm39)	missense	probably benign	0.01
R4764:Disp1	UTSW	1	182,869,660 (GRCm39)	missense	probably damaging	1.00
R4910:Disp1	UTSW	1	182,917,027 (GRCm39)	missense	probably damaging	1.00
R5150:Disp1	UTSW	1	182,871,063 (GRCm39)	missense	probably damaging	0.98
R5502:Disp1	UTSW	1	182,869,450 (GRCm39)	missense	probably damaging	1.00
R5616:Disp1	UTSW	1	182,869,913 (GRCm39)	missense	probably benign	0.30
R5699:Disp1	UTSW	1	182,870,119 (GRCm39)	nonsense	probably null
R5813:Disp1	UTSW	1	182,869,974 (GRCm39)	missense	probably damaging	1.00
R5820:Disp1	UTSW	1	182,917,151 (GRCm39)	missense	probably benign	0.00
R6184:Disp1	UTSW	1	182,867,896 (GRCm39)	missense	probably benign	0.00
R6228:Disp1	UTSW	1	182,880,589 (GRCm39)	missense	possibly damaging	0.59
R6306:Disp1	UTSW	1	182,868,712 (GRCm39)	missense	possibly damaging	0.93
R6505:Disp1	UTSW	1	182,868,076 (GRCm39)	missense	probably benign	0.02
R6925:Disp1	UTSW	1	182,868,042 (GRCm39)	missense	probably benign
R7016:Disp1	UTSW	1	182,869,030 (GRCm39)	missense	probably damaging	1.00
R7045:Disp1	UTSW	1	182,869,030 (GRCm39)	missense	probably damaging	1.00
R7046:Disp1	UTSW	1	182,869,030 (GRCm39)	missense	probably damaging	1.00
R7047:Disp1	UTSW	1	182,869,030 (GRCm39)	missense	probably damaging	1.00
R7114:Disp1	UTSW	1	182,869,030 (GRCm39)	missense	probably damaging	1.00
R7123:Disp1	UTSW	1	182,869,030 (GRCm39)	missense	probably damaging	1.00
R7124:Disp1	UTSW	1	182,869,030 (GRCm39)	missense	probably damaging	1.00
R7125:Disp1	UTSW	1	182,869,030 (GRCm39)	missense	probably damaging	1.00
R7161:Disp1	UTSW	1	182,869,189 (GRCm39)	missense	possibly damaging	0.84
R7510:Disp1	UTSW	1	182,869,975 (GRCm39)	missense	probably damaging	1.00
R7756:Disp1	UTSW	1	182,871,298 (GRCm39)	missense	probably damaging	1.00
R7800:Disp1	UTSW	1	182,880,550 (GRCm39)	missense	probably benign	0.00
R7929:Disp1	UTSW	1	182,917,103 (GRCm39)	missense	probably benign
R8029:Disp1	UTSW	1	182,870,852 (GRCm39)	missense	probably damaging	1.00
R8036:Disp1	UTSW	1	182,870,803 (GRCm39)	missense	probably damaging	1.00
R8045:Disp1	UTSW	1	182,870,794 (GRCm39)	missense	probably damaging	1.00
R8054:Disp1	UTSW	1	182,869,812 (GRCm39)	nonsense	probably null
R8061:Disp1	UTSW	1	182,869,151 (GRCm39)	missense	probably damaging	1.00
R8094:Disp1	UTSW	1	182,869,192 (GRCm39)	missense	probably damaging	1.00
R8130:Disp1	UTSW	1	182,917,199 (GRCm39)	missense	probably benign	0.13
R8731:Disp1	UTSW	1	182,869,072 (GRCm39)	missense	possibly damaging	0.65
R9076:Disp1	UTSW	1	182,868,799 (GRCm39)	missense	possibly damaging	0.59
R9490:Disp1	UTSW	1	182,871,092 (GRCm39)	missense	probably benign	0.03
R9712:Disp1	UTSW	1	182,917,379 (GRCm39)	missense	probably damaging	0.99
R9745:Disp1	UTSW	1	182,869,310 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGCATCTCGAGCTACAGAG -3'
(R):5'- ATTAAAACACAGGGCTCAGTCG -3'

Sequencing Primer
(F):5'- CTACAGAGCCAGAGGGAGCTG -3'
(R):5'- AGTTGTCACTGAAATGTCTTGC -3'

Posted On

2015-10-08