Incidental Mutation 'RF029:Amot'
ID 604291
Institutional Source Beutler Lab
Gene Symbol Amot
Ensembl Gene ENSMUSG00000041688
Gene Name angiomotin
Synonyms E230009N18Rik, D0Kist1, Sii6
Accession Numbers
Essential gene? Probably essential (E-score: 0.761) question?
Stock # RF029 (G1)
Quality Score 217.982
Status Not validated
Chromosome X
Chromosomal Location 144229420-144288145 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) GGAGCAGCAA to G at 144233984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000112835] [ENSMUST00000112836]
AlphaFold Q8VHG2
Predicted Effect probably benign
Transcript: ENSMUST00000112835
SMART Domains Protein: ENSMUSP00000108454
Gene: ENSMUSG00000041688

DomainStartEndE-ValueType
coiled coil region 20 61 N/A INTRINSIC
internal_repeat_1 75 95 9.29e-5 PROSPERO
low complexity region 140 149 N/A INTRINSIC
low complexity region 175 186 N/A INTRINSIC
Pfam:Angiomotin_C 189 398 1.4e-100 PFAM
low complexity region 426 442 N/A INTRINSIC
SCOP:d1gkub1 513 546 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112836
SMART Domains Protein: ENSMUSP00000108455
Gene: ENSMUSG00000041688

DomainStartEndE-ValueType
internal_repeat_1 152 207 2.13e-5 PROSPERO
low complexity region 321 336 N/A INTRINSIC
low complexity region 347 365 N/A INTRINSIC
coiled coil region 409 450 N/A INTRINSIC
Blast:PAC 452 493 6e-12 BLAST
low complexity region 529 538 N/A INTRINSIC
low complexity region 564 575 N/A INTRINSIC
Pfam:Angiomotin_C 578 785 6.1e-97 PFAM
low complexity region 815 831 N/A INTRINSIC
low complexity region 862 1063 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125271
SMART Domains Protein: ENSMUSP00000116189
Gene: ENSMUSG00000041688

DomainStartEndE-ValueType
low complexity region 124 139 N/A INTRINSIC
low complexity region 150 168 N/A INTRINSIC
coiled coil region 211 252 N/A INTRINSIC
Blast:PAC 255 296 6e-12 BLAST
low complexity region 332 341 N/A INTRINSIC
low complexity region 367 378 N/A INTRINSIC
Pfam:Angiomotin_C 381 588 2e-97 PFAM
low complexity region 618 634 N/A INTRINSIC
low complexity region 665 866 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138187
SMART Domains Protein: ENSMUSP00000117777
Gene: ENSMUSG00000041688

DomainStartEndE-ValueType
low complexity region 140 155 N/A INTRINSIC
low complexity region 166 184 N/A INTRINSIC
coiled coil region 227 268 N/A INTRINSIC
Blast:PAC 271 312 5e-12 BLAST
low complexity region 348 357 N/A INTRINSIC
low complexity region 383 394 N/A INTRINSIC
Pfam:Angiomotin_C 397 604 1.1e-97 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null mutation exhibit impaired migration into proximal extraembryonic regions resulting in furrows of visceral endoderm at the junction of embryonic and extraembryonic regions, vascular insufficiency in the intersomitic region, dilated vessels in the brain and embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik GGTGGCCAG GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG 6: 131,529,858 (GRCm39) probably benign Het
Abca17 T TCCCTC 17: 24,506,701 (GRCm39) probably benign Het
C1s1 CCCATGGCTC CC 6: 124,518,310 (GRCm39) probably null Het
Cacna1a CCA CCAACA 8: 85,365,353 (GRCm39) probably benign Het
Ccdc170 ACC ACCGCC 10: 4,511,026 (GRCm39) probably benign Het
Cyb5r4 CAGA CAGAGACACTGACCAGGGATGTGATAGA 9: 86,922,483 (GRCm39) probably benign Het
Cyb5r4 CCAGGGA CCAGGGATGTGACAGACACACTGCACAGGGA 9: 86,922,495 (GRCm39) probably benign Het
Defb22 GCGGCA GCGGCAGAGCTGGCCTTTGCGGCA 2: 152,327,753 (GRCm39) probably benign Het
Dnmt1 CGGAGCACAGTTCCTACCTCGTT CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT 9: 20,821,419 (GRCm39) probably null Het
Eed C A 7: 89,604,240 (GRCm39) A411S probably benign Het
Exd2 CCACAGC CC 12: 80,522,720 (GRCm39) probably null Het
Fam171b GCAGC GCAGCATCAGC 2: 83,643,236 (GRCm39) probably benign Het
Fbrsl1 GCGTGTGCTGGT GCGTGTGCTGGTTCGTGTGCTGGT 5: 110,526,005 (GRCm39) probably benign Het
Fsip2 TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA TAGATGTGAAACTCTTAGAGGTAAGA 2: 82,824,352 (GRCm39) probably null Het
Gabre GGCTC GGCTCCTGCTC X: 71,313,665 (GRCm39) probably benign Het
Gm47955 G GTTGTGGCTT 1: 82,938,248 (GRCm39) probably benign Het
Gm572 TGGGGGGGGGGGG TGGGGG 4: 148,755,850 (GRCm39) probably null Het
Hic1 CGGGGGGGGGG CGGGGGGG 11: 75,060,268 (GRCm39) probably benign Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Il2 GTGG GTGGGGCTTGAACTGG 3: 37,179,976 (GRCm39) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,119,516 (GRCm39) probably benign Het
Krtap28-10 CACAGCCACAGCCAC CACAGCCACAGCCACAACAGCCACAGCCAC 1: 83,019,991 (GRCm39) probably benign Het
Lkaaear1 GCTCCAGCTCCAGCTCCAGCTCCA GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA 2: 181,339,372 (GRCm39) probably benign Het
Lkaaear1 CCAGCTCCAGCT CCAGCTCCAGCTACAGCTCCAGCT 2: 181,339,381 (GRCm39) probably benign Het
Nusap1 TGAGGAGCAAGCTGAGA TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA 2: 119,458,075 (GRCm39) probably benign Het
Nusap1 CTGAGA CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA 2: 119,458,086 (GRCm39) probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pnma8a CAACATC CAACATCTCATGATGCACCTGCTTAAACATC 7: 16,695,369 (GRCm39) probably null Het
Polr1has CG CCACCACCACCACCCCCCCCAGG 17: 37,275,963 (GRCm39) probably benign Het
Rasa2 CGC CGCAGC 9: 96,513,520 (GRCm39) probably benign Het
Rbm12 TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC 2: 155,938,015 (GRCm39) probably benign Het
Reep1 CGCCA CGCCAGCCA 6: 71,684,950 (GRCm39) probably null Het
Tcof1 CAG CAGAAG 18: 60,968,807 (GRCm39) probably benign Het
Tcof1 AGC AGCGGC 18: 60,968,817 (GRCm39) probably benign Het
Trappc9 GCTGCTGCT GCTGCTGCTGCTGCTTCTGCTGCT 15: 72,673,172 (GRCm39) probably benign Het
Zfhx3 CAGCAACAG CAGCAACAGAAGCAACAG 8: 109,682,724 (GRCm39) probably benign Het
Other mutations in Amot
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Amot APN X 144,270,024 (GRCm39) missense probably damaging 1.00
R1793:Amot UTSW X 144,233,585 (GRCm39) unclassified probably benign
R2426:Amot UTSW X 144,259,287 (GRCm39) missense probably damaging 1.00
R4536:Amot UTSW X 144,263,138 (GRCm39) missense probably benign 0.00
R9165:Amot UTSW X 144,244,745 (GRCm39) missense
R9166:Amot UTSW X 144,244,745 (GRCm39) missense
R9167:Amot UTSW X 144,244,745 (GRCm39) missense
R9169:Amot UTSW X 144,244,745 (GRCm39) missense
R9170:Amot UTSW X 144,244,745 (GRCm39) missense
R9171:Amot UTSW X 144,244,745 (GRCm39) missense
RF023:Amot UTSW X 144,233,999 (GRCm39) unclassified probably benign
RF035:Amot UTSW X 144,233,984 (GRCm39) unclassified probably benign
RF050:Amot UTSW X 144,233,999 (GRCm39) unclassified probably benign
Z1177:Amot UTSW X 144,263,454 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGAATCTGAACAGCAGCAGC -3'
(R):5'- CGATTGCAGCACCCAAACTG -3'

Sequencing Primer
(F):5'- GCAGCAGCTGGAGAGAC -3'
(R):5'- CTGAACGTGGACCGGAATC -3'
Posted On 2019-12-04