Mutagenetix > Incidental Mutation

Incidental Mutation 'R6228:Disp1'

504445

Institutional Source

Beutler Lab

Gene Symbol

Disp1

Ensembl Gene

ENSMUSG00000030768

Gene Name

dispatched RND transporter family member 1

Synonyms

DispA, 1190008H24Rik

MMRRC Submission

044357-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R6228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

182867830-183003086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 182880589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 228 (T228M)

Ref Sequence

ENSEMBL: ENSMUSP00000141747 (fasta)

Gene Model

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

AlphaFold

Q3TDN0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003035
AA Change: T228M

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000003035
Gene: ENSMUSG00000030768
AA Change: T228M

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

possibly damaging
Transcript: ENSMUST00000171366
AA Change: T228M

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126742
Gene: ENSMUSG00000030768
AA Change: T228M

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

possibly damaging
Transcript: ENSMUST00000195372
AA Change: T228M

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141747
Gene: ENSMUSG00000030768
AA Change: T228M

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (93/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	T	7: 45,679,680 (GRCm39)	T9K	probably benign	Het
Ankrd28	T	C	14: 31,429,177 (GRCm39)	H925R	probably damaging	Het
Antxrl	A	T	14: 33,778,556 (GRCm39)	T128S	probably damaging	Het
Atosa	A	G	9: 74,913,645 (GRCm39)	M100V	possibly damaging	Het
Atp8b5	T	C	4: 43,304,674 (GRCm39)	Y62H	probably damaging	Het
Bmpr2	G	T	1: 59,906,595 (GRCm39)	V563L	probably benign	Het
Btn1a1	A	T	13: 23,648,521 (GRCm39)	L104Q	probably damaging	Het
Caskin1	C	G	17: 24,726,154 (GRCm39)	D1420E	probably damaging	Het
Cdc14a	A	T	3: 116,144,862 (GRCm39)	I150N	probably damaging	Het
Cdc26	C	T	4: 62,321,031 (GRCm39)	R4Q	probably damaging	Het
Cfap46	T	C	7: 139,236,496 (GRCm39)	D160G	probably damaging	Het
Cxcr4	A	C	1: 128,519,920 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dgat1	T	C	15: 76,387,493 (GRCm39)	N317S	possibly damaging	Het
Dixdc1	A	C	9: 50,614,656 (GRCm39)		probably null	Het
Dnase1l2	C	A	17: 24,661,492 (GRCm39)		probably benign	Het
Dsg2	T	C	18: 20,727,350 (GRCm39)		probably null	Het
Duox2	A	T	2: 122,117,674 (GRCm39)	F887I	probably benign	Het
Duxf4	A	G	10: 58,071,344 (GRCm39)	M290T	probably benign	Het
Efcab6	T	C	15: 83,851,825 (GRCm39)	D351G	possibly damaging	Het
Ep400	A	G	5: 110,818,808 (GRCm39)	V2621A	probably damaging	Het
Epg5	G	T	18: 77,991,677 (GRCm39)	V125F	possibly damaging	Het
Ephb1	T	C	9: 101,800,783 (GRCm39)	R953G	probably damaging	Het
Etfdh	G	T	3: 79,519,336 (GRCm39)	Y272*	probably null	Het
Fam117b	A	G	1: 60,008,207 (GRCm39)	E347G	probably damaging	Het
Gfra3	A	T	18: 34,828,846 (GRCm39)	C183S	probably damaging	Het
Gmip	A	G	8: 70,268,773 (GRCm39)	D466G	probably damaging	Het
Golga5	G	A	12: 102,450,740 (GRCm39)	M464I	probably benign	Het
Gpd1	A	T	15: 99,621,146 (GRCm39)	Q320L	possibly damaging	Het
H2-Oa	G	T	17: 34,312,851 (GRCm39)	D43Y	probably damaging	Het
Hecw1	T	A	13: 14,520,623 (GRCm39)	I205F	probably damaging	Het
Ighv8-13	A	G	12: 115,728,973 (GRCm39)	Y95H	probably damaging	Het
Igkv6-20	T	C	6: 70,313,081 (GRCm39)	M31V	possibly damaging	Het
Itih1	T	C	14: 30,653,217 (GRCm39)	D737G	probably benign	Het
Kcnc4	G	C	3: 107,355,693 (GRCm39)	H252D	probably damaging	Het
Kcnj14	T	A	7: 45,468,921 (GRCm39)	T195S	probably damaging	Het
Limch1	A	T	5: 67,173,845 (GRCm39)	D642V	probably damaging	Het
Lrp2	T	G	2: 69,312,710 (GRCm39)	D2526A	possibly damaging	Het
Lrrc8a	A	G	2: 30,146,565 (GRCm39)	T460A	possibly damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Lypd8	A	T	11: 58,277,629 (GRCm39)	Q137L	possibly damaging	Het
Mapkapk3	A	G	9: 107,137,262 (GRCm39)	Y206H	probably damaging	Het
Mrc1	G	A	2: 14,276,115 (GRCm39)	G483D	probably benign	Het
Mrpl35	C	A	6: 71,800,661 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,497,665 (GRCm39)	H936L	probably benign	Het
Myh3	A	T	11: 66,978,312 (GRCm39)	Y433F	probably benign	Het
Napb	C	T	2: 148,540,098 (GRCm39)		probably null	Het
Nbeal1	C	A	1: 60,335,083 (GRCm39)	Q2288K	probably benign	Het
Ndst3	G	A	3: 123,465,301 (GRCm39)	Q224*	probably null	Het
Nkapd1	A	G	9: 50,518,971 (GRCm39)	S214P	possibly damaging	Het
Nkd2	A	G	13: 73,969,579 (GRCm39)	S284P	probably benign	Het
Or10a2	T	C	7: 106,673,343 (GRCm39)	Y103H	probably damaging	Het
Or5b12	A	T	19: 12,897,301 (GRCm39)	V124E	probably damaging	Het
Or6k2	G	A	1: 173,979,712 (GRCm39)	S210N	probably benign	Het
Or8h10	T	C	2: 86,809,035 (GRCm39)	Y35C	probably damaging	Het
Pcdhb8	A	G	18: 37,490,037 (GRCm39)	T572A	probably benign	Het
Pcdhb9	A	G	18: 37,535,115 (GRCm39)	I370V	probably benign	Het
Pcsk5	T	G	19: 17,558,631 (GRCm39)	E592A	possibly damaging	Het
Pigc	T	C	1: 161,798,036 (GRCm39)	V6A	probably benign	Het
Pla2g6	T	G	15: 79,189,924 (GRCm39)	I389L	probably benign	Het
Pnliprp2	T	C	19: 58,751,874 (GRCm39)		probably null	Het
Psmb11	T	C	14: 54,863,646 (GRCm39)	V288A	probably benign	Het
Rapgef5	A	G	12: 117,685,398 (GRCm39)		probably null	Het
Rcn3	T	C	7: 44,732,720 (GRCm39)	N316S	probably damaging	Het
Rgs6	A	G	12: 83,112,738 (GRCm39)	K183E	probably damaging	Het
Rhoc	A	G	3: 104,700,297 (GRCm39)		probably null	Het
Serinc5	T	C	13: 92,844,616 (GRCm39)	C453R	probably damaging	Het
Slc14a1	A	C	18: 78,159,614 (GRCm39)	M93R	probably damaging	Het
Slc25a3	A	T	10: 90,958,090 (GRCm39)	D83E	probably damaging	Het
Slc36a3	T	C	11: 55,015,777 (GRCm39)	Y459C	probably benign	Het
Slc44a5	A	T	3: 153,944,800 (GRCm39)	Y139F	probably benign	Het
Spag17	A	T	3: 99,929,918 (GRCm39)	Q539L	probably benign	Het
Stap2	C	T	17: 56,306,976 (GRCm39)	V234M	probably damaging	Het
Stard9	A	G	2: 120,544,231 (GRCm39)	Y4450C	probably damaging	Het
Taf6l	C	T	19: 8,756,030 (GRCm39)	R206Q	probably benign	Het
Tbc1d23	C	T	16: 57,003,266 (GRCm39)	V501I	probably damaging	Het
Thap2	T	C	10: 115,208,751 (GRCm39)	H123R	probably damaging	Het
Tlx3	C	A	11: 33,152,432 (GRCm39)	W221L	probably benign	Het
Tmem262	T	A	19: 6,130,567 (GRCm39)		probably null	Het
Tpmt	C	A	13: 47,180,735 (GRCm39)	R201S	probably benign	Het
Trpm6	T	C	19: 18,831,655 (GRCm39)	S1507P	probably damaging	Het
Ttc9c	T	C	19: 8,795,847 (GRCm39)	E64G	possibly damaging	Het
Ttn	A	T	2: 76,640,790 (GRCm39)	S13653T	probably damaging	Het
Ugt3a1	G	T	15: 9,310,726 (GRCm39)	W336L	possibly damaging	Het
Vmn1r215	C	A	13: 23,260,633 (GRCm39)	N224K	probably benign	Het
Vmn2r59	C	T	7: 41,691,835 (GRCm39)		probably null	Het
Wdfy3	A	G	5: 102,046,295 (GRCm39)	S1853P	possibly damaging	Het
Wdr36	A	T	18: 32,975,059 (GRCm39)	Y137F	possibly damaging	Het
Zdhhc17	T	C	10: 110,792,216 (GRCm39)	D324G	probably benign	Het
Zfp217	T	C	2: 169,961,497 (GRCm39)	T277A	probably benign	Het
Zfp451	A	G	1: 33,842,219 (GRCm39)		probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp871	T	C	17: 32,994,858 (GRCm39)	S106G	possibly damaging	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
R4672:Disp1	UTSW	1	182,880,215 (GRCm39)	critical splice acceptor site	probably null
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
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'- GTGCCACCTTTTCATCACAG -3'
(R):5'- CATTAACACAGGTCTCCTCGG -3'

Sequencing Primer
(F):5'- ACCTTTTCATCACAGTCTAGCAAG -3'
(R):5'- TCCTCGGCAGACGTGAAGAATG -3'

Posted On

2018-02-28