Mutagenetix > Incidental Mutation

Incidental Mutation 'R3162:Disp1'

271663

Institutional Source

Beutler Lab

Gene Symbol

Disp1

Ensembl Gene

ENSMUSG00000030768

Gene Name

dispatched RND transporter family member 1

Synonyms

DispA, 1190008H24Rik

MMRRC Submission

040613-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R3162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182867830-183003086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 182868806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1205 (K1205E)

Ref Sequence

ENSEMBL: ENSMUSP00000141747 (fasta)

Gene Model

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

AlphaFold

Q3TDN0

Predicted Effect

probably benign
Transcript: ENSMUST00000003035
AA Change: K1205E

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000003035
Gene: ENSMUSG00000030768
AA Change: K1205E

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 benign
Transcript: ENSMUST00000171366
AA Change: K1205E

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126742
Gene: ENSMUSG00000030768
AA Change: K1205E

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

probably benign
Transcript: ENSMUST00000195372
AA Change: K1205E

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000141747
Gene: ENSMUSG00000030768
AA Change: K1205E

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

0.0619

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,053,833 (GRCm39)		probably benign	Het
4933412E24Rik	T	A	15: 59,888,134 (GRCm39)	E102V	probably damaging	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Adgre4	T	C	17: 56,109,218 (GRCm39)		probably benign	Het
Amer2	A	G	14: 60,616,000 (GRCm39)	D65G	probably damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
AW551984	C	A	9: 39,504,325 (GRCm39)	R547L	probably damaging	Het
B3galt6	A	G	4: 156,076,464 (GRCm39)	Y204H	probably benign	Het
Btnl2	T	C	17: 34,577,039 (GRCm39)	W65R	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Ccdc181	T	A	1: 164,107,865 (GRCm39)	S183T	probably damaging	Het
Cdc14b	A	G	13: 64,394,422 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,738,910 (GRCm39)	H2311R	probably benign	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crbn	T	C	6: 106,767,827 (GRCm39)	Q221R	probably benign	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Ddb1	T	C	19: 10,603,335 (GRCm39)	L881P	probably damaging	Het
Decr1	T	A	4: 15,930,972 (GRCm39)	D120V	probably damaging	Het
Dennd1c	C	T	17: 57,373,562 (GRCm39)	G637D	possibly damaging	Het
Dhrs3	A	G	4: 144,646,016 (GRCm39)	D108G	possibly damaging	Het
Dnajc13	G	T	9: 104,097,097 (GRCm39)	N510K	possibly damaging	Het
Dusp6	T	C	10: 99,099,944 (GRCm39)	Y131H	probably damaging	Het
Eif2b2	A	T	12: 85,266,435 (GRCm39)	M34L	probably benign	Het
Epsti1	A	T	14: 78,211,953 (GRCm39)		probably benign	Het
Errfi1	G	A	4: 150,951,816 (GRCm39)	E415K	probably damaging	Het
Ext1	T	C	15: 53,208,000 (GRCm39)	N254D	possibly damaging	Het
Gm7337	A	C	5: 87,999,416 (GRCm39)		noncoding transcript	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Hyal3	T	A	9: 107,464,005 (GRCm39)	C407S	probably damaging	Het
Insr	T	G	8: 3,211,416 (GRCm39)	N1141T	possibly damaging	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Iqgap1	G	A	7: 80,402,086 (GRCm39)	A393V	probably benign	Het
Irak2	G	T	6: 113,649,721 (GRCm39)	A119S	probably benign	Het
Itgb2l	A	G	16: 96,238,589 (GRCm39)	L70P	probably damaging	Het
Itsn1	C	A	16: 91,649,932 (GRCm39)	S202*	probably null	Het
Ivd	T	C	2: 118,692,650 (GRCm39)		probably null	Het
Leprot	C	T	4: 101,515,090 (GRCm39)	T89I	probably damaging	Het
Lratd2	A	T	15: 60,695,296 (GRCm39)	V150E	probably damaging	Het
Mill2	A	C	7: 18,590,099 (GRCm39)	E127A	probably benign	Het
Msh6	T	C	17: 88,292,909 (GRCm39)	Y555H	probably damaging	Het
Myo18b	A	C	5: 112,840,594 (GRCm39)	S2400A	probably damaging	Het
Naa25	A	G	5: 121,573,135 (GRCm39)		probably null	Het
Nop2	A	G	6: 125,111,555 (GRCm39)	N96S	probably benign	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Nusap1	A	T	2: 119,460,885 (GRCm39)	Q126L	possibly damaging	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or13c7b	T	A	4: 43,820,544 (GRCm39)	K272N	probably benign	Het
Or2z2	T	C	11: 58,346,053 (GRCm39)	T241A	probably damaging	Het
Or4c52	T	G	2: 89,845,365 (GRCm39)	Y30*	probably null	Het
Or5al1	T	C	2: 85,990,439 (GRCm39)	I92V	probably benign	Het
Or6x1	G	T	9: 40,098,901 (GRCm39)	Q163H	probably benign	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Pde5a	T	A	3: 122,575,277 (GRCm39)	L356*	probably null	Het
Pdik1l	A	G	4: 134,011,561 (GRCm39)	L94S	probably damaging	Het
Pkdrej	T	A	15: 85,700,818 (GRCm39)	D1706V	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,924 (GRCm39)	I856M	probably damaging	Het
Prkcz	A	T	4: 155,374,981 (GRCm39)	D114E	probably benign	Het
Prss59	A	G	6: 40,903,003 (GRCm39)	M123T	probably benign	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Ptprk	T	C	10: 28,468,822 (GRCm39)	V1402A	probably benign	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Ralgapa1	A	T	12: 55,756,371 (GRCm39)	N1075K	probably damaging	Het
Rlf	A	G	4: 121,006,044 (GRCm39)	S979P	probably damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Serinc2	A	G	4: 130,154,528 (GRCm39)	S175P	probably benign	Het
Skic2	C	T	17: 35,066,789 (GRCm39)	W88*	probably null	Het
Socs5	A	T	17: 87,442,146 (GRCm39)	Q362L	probably damaging	Het
Srbd1	A	T	17: 86,437,643 (GRCm39)	D233E	probably benign	Het
Srgap3	A	G	6: 112,706,619 (GRCm39)	V826A	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Taok2	A	G	7: 126,474,347 (GRCm39)	I294T	possibly damaging	Het
Tert	A	G	13: 73,775,528 (GRCm39)	E93G	possibly damaging	Het
Tns2	A	G	15: 102,021,771 (GRCm39)	E1118G	possibly damaging	Het
Topaz1	T	C	9: 122,578,446 (GRCm39)	I452T	probably benign	Het
Trak1	C	T	9: 121,280,800 (GRCm39)		probably benign	Het
Ttc22	A	T	4: 106,480,276 (GRCm39)	I177F	probably damaging	Het
Tuba8	A	G	6: 121,199,697 (GRCm39)	D127G	possibly damaging	Het
Tulp4	A	G	17: 6,248,983 (GRCm39)	M1V	probably null	Het
Urb1	A	G	16: 90,594,791 (GRCm39)	L247P	probably damaging	Het
Usp32	A	G	11: 84,916,362 (GRCm39)	W861R	probably damaging	Het
Vmn1r48	G	A	6: 90,013,360 (GRCm39)	T155I	probably benign	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vmn2r86	T	C	10: 130,291,673 (GRCm39)	R31G	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Wnt5a	T	C	14: 28,244,445 (GRCm39)	Y231H	probably benign	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	probably damaging	Het
Zw10	T	C	9: 48,988,860 (GRCm39)	Y709H	probably 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
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
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'- TCTCGGCAGTTACATCTCGG -3'
(R):5'- CATGATGCTCGTCATGTGCG -3'

Sequencing Primer
(F):5'- CGGCAGTTACATCTCGGATTGAG -3'
(R):5'- TTTCCCTACAAAACTCCAGTGCAG -3'

Posted On

2015-03-25