Incidental Mutation 'R7125:Disp1'
ID 552249
Institutional Source Beutler Lab
Gene Symbol Disp1
Ensembl Gene ENSMUSG00000030768
Gene Name dispatched RND transporter family member 1
Synonyms DispA, 1190008H24Rik
MMRRC Submission 045327-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R7125 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 182867830-183003086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 182869030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1130 (R1130L)
Ref Sequence ENSEMBL: ENSMUSP00000141747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003035] [ENSMUST00000171366] [ENSMUST00000195372]
AlphaFold Q3TDN0
Predicted Effect probably damaging
Transcript: ENSMUST00000003035
AA Change: R1130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003035
Gene: ENSMUSG00000030768
AA Change: R1130L

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000171366
AA Change: R1130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126742
Gene: ENSMUSG00000030768
AA Change: R1130L

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000195372
AA Change: R1130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141747
Gene: ENSMUSG00000030768
AA Change: R1130L

DomainStartEndE-ValueType
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 0.1740 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 96% (48/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,255,751 (GRCm39) C296S probably damaging Het
Ago3 T C 4: 126,264,145 (GRCm39) I354V probably null Het
Aldh1l1 G A 6: 90,553,761 (GRCm39) probably null Het
Ankrd49 TAA TA 9: 14,693,836 (GRCm39) probably null Het
B3gnt7 A G 1: 86,233,099 (GRCm39) Y115C probably damaging Het
Cacna1h A T 17: 25,602,510 (GRCm39) M1506K probably damaging Het
Cars1 T C 7: 143,138,510 (GRCm39) T226A probably benign Het
Ccdc28b T A 4: 129,514,885 (GRCm39) T75S probably benign Het
Cdc42bpg A G 19: 6,372,321 (GRCm39) I1436V probably damaging Het
Cep152 A T 2: 125,408,593 (GRCm39) Y1320* probably null Het
Cntnap2 A T 6: 46,965,580 (GRCm39) Y797F probably benign Het
Coq8a T A 1: 179,996,366 (GRCm39) N490I probably damaging Het
Csmd2 T C 4: 128,389,955 (GRCm39) L2230P Het
Cyp4a14 A T 4: 115,348,358 (GRCm39) I373N probably damaging Het
Ddx1 A G 12: 13,293,864 (GRCm39) S86P probably benign Het
Dennd3 A T 15: 73,405,140 (GRCm39) I298F possibly damaging Het
Dnah2 T C 11: 69,327,008 (GRCm39) T3533A probably damaging Het
Fam53b T C 7: 132,373,357 (GRCm39) H27R probably damaging Het
Firrm T C 1: 163,789,631 (GRCm39) T635A probably benign Het
Fyb1 G A 15: 6,674,337 (GRCm39) E658K possibly damaging Het
Gapvd1 T C 2: 34,585,612 (GRCm39) S996G probably benign Het
Gm47959 G A 1: 82,978,503 (GRCm39) G57S unknown Het
Golgb1 T A 16: 36,738,325 (GRCm39) H2262Q possibly damaging Het
Gpam T C 19: 55,064,767 (GRCm39) T646A probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hexd C T 11: 121,095,496 (GRCm39) probably benign Het
Micu2 A T 14: 58,209,238 (GRCm39) Y73* probably null Het
N4bp2l2 T C 5: 150,573,894 (GRCm39) probably null Het
Or11h7 T C 14: 50,891,041 (GRCm39) C116R possibly damaging Het
Or1e31 T C 11: 73,689,990 (GRCm39) M198V probably benign Het
Or1m1 A T 9: 18,666,174 (GRCm39) Y252* probably null Het
Or51t4 T C 7: 102,598,386 (GRCm39) V238A probably damaging Het
Or5b112 A T 19: 13,319,103 (GRCm39) probably null Het
P3r3urf A G 4: 116,030,667 (GRCm39) M24V probably benign Het
Prkca A G 11: 107,874,848 (GRCm39) Y365H probably damaging Het
Ptpre C T 7: 135,255,744 (GRCm39) R155* probably null Het
Ryr2 T A 13: 11,684,873 (GRCm39) N3023Y probably damaging Het
S100a7a A G 3: 90,562,822 (GRCm39) D3G probably benign Het
Scn2a T C 2: 65,594,277 (GRCm39) F1709L probably damaging Het
Slc15a2 T C 16: 36,602,660 (GRCm39) E67G probably damaging Het
Slc25a22 A G 7: 141,011,655 (GRCm39) L195P probably damaging Het
Sp140 TTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT 1: 85,572,290 (GRCm39) probably benign Het
Stim1 T A 7: 102,084,741 (GRCm39) H564Q possibly damaging Het
Sulf2 C T 2: 165,917,448 (GRCm39) W855* probably null Het
Tenm3 T C 8: 49,127,588 (GRCm39) N30S probably benign Het
Trim59 T C 3: 68,944,197 (GRCm39) D381G probably benign Het
Ttc21b T C 2: 66,066,670 (GRCm39) T328A probably benign Het
Ttc6 C G 12: 57,623,125 (GRCm39) Q175E probably benign Het
Vmn2r44 T C 7: 8,370,941 (GRCm39) I702V probably damaging Het
Zfp768 A T 7: 126,943,959 (GRCm39) F59L probably damaging Het
Other mutations in Disp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGTCTTCTCCGAGGAAGTGCAG -3'
(R):5'- TTCTCTCTGAGCCGTATGGG -3'

Sequencing Primer
(F):5'- CGTAAAACTCATGCTCCAGTTGGG -3'
(R):5'- TATGGGCTCTGCGATCGC -3'
Posted On 2019-05-15