Mutagenetix > Incidental Mutation

Incidental Mutation 'R6505:Disp1'

523672

Institutional Source

Beutler Lab

Gene Symbol

Disp1

Ensembl Gene

ENSMUSG00000030768

Gene Name

dispatched RND transporter family member 1

Synonyms

1190008H24Rik, DispA

MMRRC Submission

044637-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R6505 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

183086266-183221522 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 183086512 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1448 (N1448S)

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: N1448S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000003035
Gene: ENSMUSG00000030768
AA Change: N1448S

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: N1448S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000126742
Gene: ENSMUSG00000030768
AA Change: N1448S

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: N1448S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141747
Gene: ENSMUSG00000030768
AA Change: N1448S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,001,940	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,449,281	A8V	probably benign	Het
Ago1	G	A	4: 126,463,835	P16S	probably benign	Het
Ak5	C	T	3: 152,481,669	E394K	probably benign	Het
Aldh7a1	T	C	18: 56,526,996	Y498C	probably damaging	Het
Alox12	T	A	11: 70,250,204	D335V	probably damaging	Het
Alx4	A	T	2: 93,668,559	Y212F	probably damaging	Het
Asb16	A	G	11: 102,276,477	E223G	probably damaging	Het
Atg9b	C	T	5: 24,390,577	V235M	probably damaging	Het
BB014433	A	G	8: 15,042,304	V183A	probably benign	Het
Brca1	T	A	11: 101,523,541	M1256L	probably benign	Het
Bst1	A	G	5: 43,820,590	I94V	probably benign	Het
C3ar1	A	G	6: 122,850,640	L206P	probably benign	Het
Cabs1	T	A	5: 87,980,663	M391K	possibly damaging	Het
Cars	C	T	7: 143,565,007	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,933,023	Y73*	probably null	Het
Cd177	A	C	7: 24,744,246	L809W	probably benign	Het
Cemip	C	A	7: 83,951,597	G939*	probably null	Het
Clca3b	T	A	3: 144,825,259	I777F	probably benign	Het
Cma2	T	C	14: 55,973,779	I176T	probably damaging	Het
Col12a1	T	A	9: 79,647,605	T2064S	probably damaging	Het
Csf1r	A	G	18: 61,129,733	N860S	probably damaging	Het
Dab1	T	A	4: 104,512,264	C3S	probably benign	Het
Dennd4b	A	G	3: 90,267,611	E50G	probably damaging	Het
Dis3l	A	T	9: 64,307,513	S925T	probably benign	Het
Dpp10	T	C	1: 123,336,851	I747M	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ephx4	A	T	5: 107,403,656	K36*	probably null	Het
Fam135a	C	T	1: 24,014,872	V1195I	probably damaging	Het
Fap	A	T	2: 62,546,603	Y234*	probably null	Het
Fem1c	A	T	18: 46,505,875	N353K	possibly damaging	Het
Furin	C	A	7: 80,393,617	R282L	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm5930	A	G	14: 44,331,371	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,137,586	T15S	probably benign	Het
Ifnar1	C	T	16: 91,499,537	Q309*	probably null	Het
Il18r1	A	T	1: 40,489,707	I304L	probably benign	Het
Ino80	A	T	2: 119,451,441	Y185N	probably damaging	Het
Itgb2	G	A	10: 77,559,673	C536Y	probably damaging	Het
Ivns1abp	T	C	1: 151,360,993	M435T	probably benign	Het
Kcnh4	T	C	11: 100,757,085	N151D	probably benign	Het
Lama3	T	C	18: 12,495,348	M1499T	probably benign	Het
Lamb1	A	T	12: 31,323,462	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,661,212	R239*	probably null	Het
Map2k4	A	T	11: 65,693,529	N309K	possibly damaging	Het
Mcm3	A	G	1: 20,803,544	F784S	probably damaging	Het
Mrgpra9	T	A	7: 47,235,136	N260I	probably benign	Het
Mrnip	C	A	11: 50,199,852	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,355,857	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,448,821	I406T	possibly damaging	Het
Neto1	A	G	18: 86,498,574	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,213,199	D541G	probably damaging	Het
Nuak2	C	A	1: 132,316,394	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,691,613	T118A	probably benign	Het
Olfr1126	T	A	2: 87,457,927	V254E	probably damaging	Het
Olfr1155	A	T	2: 87,943,174	Y151*	probably null	Het
Olfr19	A	T	16: 16,673,920	D20E	probably benign	Het
Olfr213	C	T	6: 116,540,600	T49M	probably benign	Het
Olfr266	T	G	3: 106,822,322	N79T	possibly damaging	Het
Olfr483	T	C	7: 108,103,567	V86A	probably benign	Het
Olfr596	C	A	7: 103,309,793	A24D	probably benign	Het
Olfr609	T	A	7: 103,492,651	T76S	probably damaging	Het
Olfr847	T	C	9: 19,374,941	*313W	probably null	Het
Pcdhb5	T	A	18: 37,320,880	H104Q	probably benign	Het
Phf11a	T	C	14: 59,277,537	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,492,789	T478I	probably benign	Het
Prkacb	T	A	3: 146,732,646	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,773,793	D221E	probably damaging	Het
Prr11	T	A	11: 87,106,124	K5*	probably null	Het
Prrc2b	G	A	2: 32,222,320	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,668,671	Q233*	probably null	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sash1	C	G	10: 8,729,527	G1033A	probably benign	Het
Sncaip	C	A	18: 52,906,537	S189*	probably null	Het
Sorl1	T	C	9: 42,071,234	Y350C	probably damaging	Het
Speg	T	C	1: 75,406,684	V1141A	possibly damaging	Het
Speg	C	A	1: 75,429,523	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 60,086,723	D224V	probably benign	Het
Tg	G	A	15: 66,759,558	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,784,438	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,921	C278Y	probably damaging	Het
Togaram1	T	C	12: 64,966,590	I205T	possibly damaging	Het
Usp19	T	A	9: 108,496,883	L713Q	probably damaging	Het
Vsig10	A	G	5: 117,351,759	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,534,502	S475P	probably damaging	Het

Other mutations in Disp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB006:Disp1	UTSW	1	183135539	missense	probably benign
BB016:Disp1	UTSW	1	183135539	missense	probably benign
R1120:Disp1	UTSW	1	183098575	missense	probably benign	0.24
R1482:Disp1	UTSW	1	183086474	missense	possibly damaging	0.61
R1655:Disp1	UTSW	1	183087004	missense	probably benign	0.01
R1660:Disp1	UTSW	1	183087742	missense	probably damaging	1.00
R1816:Disp1	UTSW	1	183098575	missense	probably damaging	0.99
R1835:Disp1	UTSW	1	183089000	missense	probably damaging	1.00
R1954:Disp1	UTSW	1	183088543	missense	probably damaging	0.99
R2025:Disp1	UTSW	1	183088203	missense	probably damaging	1.00
R2136:Disp1	UTSW	1	183088378	missense	probably damaging	1.00
R2150:Disp1	UTSW	1	183088372	missense	probably damaging	1.00
R2207:Disp1	UTSW	1	183088342	missense	possibly damaging	0.94
R2392:Disp1	UTSW	1	183087167	missense	probably benign
R2831:Disp1	UTSW	1	183089319	small deletion	probably benign
R3111:Disp1	UTSW	1	183087523	missense	probably damaging	1.00
R3116:Disp1	UTSW	1	183088922	missense	probably benign	0.01
R3160:Disp1	UTSW	1	183087242	missense	probably benign	0.09
R3161:Disp1	UTSW	1	183087242	missense	probably benign	0.09
R3162:Disp1	UTSW	1	183087242	missense	probably benign	0.09
R3162:Disp1	UTSW	1	183087242	missense	probably benign	0.09
R3716:Disp1	UTSW	1	183087751	missense	probably damaging	1.00
R3914:Disp1	UTSW	1	183089102	missense	probably benign	0.05
R4061:Disp1	UTSW	1	183087700	missense	probably damaging	0.96
R4191:Disp1	UTSW	1	183089173	missense	probably damaging	1.00
R4261:Disp1	UTSW	1	183089386	missense	probably damaging	1.00
R4272:Disp1	UTSW	1	183087644	missense	possibly damaging	0.95
R4273:Disp1	UTSW	1	183087644	missense	possibly damaging	0.95
R4351:Disp1	UTSW	1	183099978	missense	probably benign	0.01
R4672:Disp1	UTSW	1	183098651	critical splice acceptor site	probably null
R4764:Disp1	UTSW	1	183088096	missense	probably damaging	1.00
R4910:Disp1	UTSW	1	183135463	missense	probably damaging	1.00
R5150:Disp1	UTSW	1	183089499	missense	probably damaging	0.98
R5502:Disp1	UTSW	1	183087886	missense	probably damaging	1.00
R5616:Disp1	UTSW	1	183088349	missense	probably benign	0.30
R5699:Disp1	UTSW	1	183088555	nonsense	probably null
R5813:Disp1	UTSW	1	183088410	missense	probably damaging	1.00
R5820:Disp1	UTSW	1	183135587	missense	probably benign	0.00
R6184:Disp1	UTSW	1	183086332	missense	probably benign	0.00
R6228:Disp1	UTSW	1	183099025	missense	possibly damaging	0.59
R6306:Disp1	UTSW	1	183087148	missense	possibly damaging	0.93
R6925:Disp1	UTSW	1	183086478	missense	probably benign
R7016:Disp1	UTSW	1	183087466	missense	probably damaging	1.00
R7045:Disp1	UTSW	1	183087466	missense	probably damaging	1.00
R7046:Disp1	UTSW	1	183087466	missense	probably damaging	1.00
R7047:Disp1	UTSW	1	183087466	missense	probably damaging	1.00
R7114:Disp1	UTSW	1	183087466	missense	probably damaging	1.00
R7123:Disp1	UTSW	1	183087466	missense	probably damaging	1.00
R7124:Disp1	UTSW	1	183087466	missense	probably damaging	1.00
R7125:Disp1	UTSW	1	183087466	missense	probably damaging	1.00
R7161:Disp1	UTSW	1	183087625	missense	possibly damaging	0.84
R7510:Disp1	UTSW	1	183088411	missense	probably damaging	1.00
R7756:Disp1	UTSW	1	183089734	missense	probably damaging	1.00
R7800:Disp1	UTSW	1	183098986	missense	probably benign	0.00
R7929:Disp1	UTSW	1	183135539	missense	probably benign
R8029:Disp1	UTSW	1	183089288	missense	probably damaging	1.00
R8036:Disp1	UTSW	1	183089239	missense	probably damaging	1.00
R8045:Disp1	UTSW	1	183089230	missense	probably damaging	1.00
R8054:Disp1	UTSW	1	183088248	nonsense	probably null
R8061:Disp1	UTSW	1	183087587	missense	probably damaging	1.00
R8094:Disp1	UTSW	1	183087628	missense	probably damaging	1.00
R8130:Disp1	UTSW	1	183135635	missense	probably benign	0.13
R8731:Disp1	UTSW	1	183087508	missense	possibly damaging	0.65
R9076:Disp1	UTSW	1	183087235	missense	possibly damaging	0.59
R9490:Disp1	UTSW	1	183089528	missense	probably benign	0.03
R9712:Disp1	UTSW	1	183135815	missense	probably damaging	0.99
R9745:Disp1	UTSW	1	183087746	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCTTCTGAAGGCAATGCTAG -3'
(R):5'- AAGAGCTTGTTGCCATCCTGAG -3'

Sequencing Primer
(F):5'- TTTATTAACAGACTCTCGCCAGACAG -3'
(R):5'- GAGCTTGTTGCCATCCTGAGAATAAC -3'

Posted On

2018-06-22