Incidental Mutation 'R9170:Amot'
ID 696381
Institutional Source Beutler Lab
Gene Symbol Amot
Ensembl Gene ENSMUSG00000041688
Gene Name angiomotin
Synonyms E230009N18Rik, D0Kist1, Sii6
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.761) question?
Stock # R9170 (G1)
Quality Score 221.999
Status Validated
Chromosome X
Chromosomal Location 144229420-144288145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144244745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 435 (L435H)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112835] [ENSMUST00000112836]
AlphaFold Q8VHG2
Predicted Effect probably damaging
Transcript: ENSMUST00000112835
AA Change: L228H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108454
Gene: ENSMUSG00000041688
AA Change: L228H

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 damaging
Transcript: ENSMUST00000112836
AA Change: L617H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108455
Gene: ENSMUSG00000041688
AA Change: L617H

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
SMART Domains Protein: ENSMUSP00000116189
Gene: ENSMUSG00000041688
AA Change: L419H

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
SMART Domains Protein: ENSMUSP00000117777
Gene: ENSMUSG00000041688
AA Change: L435H

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (61/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,466,516 (GRCm39) K702E probably benign Het
Agbl1 T C 7: 75,985,069 (GRCm39) I162T Het
Agpat2 A T 2: 26,487,230 (GRCm39) I101N possibly damaging Het
Arhgap32 G A 9: 32,162,039 (GRCm39) R330H possibly damaging Het
Asb4 T A 6: 5,390,775 (GRCm39) I56N probably benign Het
Atp2a2 C T 5: 122,604,087 (GRCm39) V449M possibly damaging Het
Bend4 A G 5: 67,575,080 (GRCm39) L267P probably damaging Het
Catspere2 T A 1: 177,967,949 (GRCm39) N745K probably benign Het
Celf2 A G 2: 6,554,646 (GRCm39) F484L possibly damaging Het
Chd3 T C 11: 69,241,648 (GRCm39) D1495G possibly damaging Het
Chrna3 A T 9: 54,933,671 (GRCm39) V8D unknown Het
Cog3 T C 14: 75,966,802 (GRCm39) Y466C probably damaging Het
Col5a1 A G 2: 27,841,363 (GRCm39) E328G unknown Het
Col7a1 A G 9: 108,785,707 (GRCm39) Y392C unknown Het
Crtc3 A T 7: 80,248,697 (GRCm39) N255K probably damaging Het
Dnaaf1 T C 8: 120,302,195 (GRCm39) I32T probably benign Het
Dner A T 1: 84,512,647 (GRCm39) C307S probably damaging Het
Dzip3 T C 16: 48,772,401 (GRCm39) K423E possibly damaging Het
Eif2b4 A G 5: 31,345,393 (GRCm39) S414P probably damaging Het
Elp4 T C 2: 105,624,891 (GRCm39) E334G probably damaging Het
Emilin2 T A 17: 71,587,689 (GRCm39) N141I probably benign Het
Fstl1 T A 16: 37,647,140 (GRCm39) V170E probably damaging Het
Fxn A G 19: 24,244,687 (GRCm39) I151T probably damaging Het
Gtf3c4 A T 2: 28,730,214 (GRCm39) V9E possibly damaging Het
Ino80d A G 1: 63,132,607 (GRCm39) S19P probably damaging Het
Kank3 T G 17: 34,037,242 (GRCm39) L370R probably damaging Het
Large1 T A 8: 73,542,645 (GRCm39) Y693F probably benign Het
Lig4 C A 8: 10,022,202 (GRCm39) W526L probably damaging Het
Mib1 C T 18: 10,726,437 (GRCm39) P45S probably benign Het
Ndufaf6 T C 4: 11,070,301 (GRCm39) K107E probably benign Het
Nf1 T C 11: 79,436,291 (GRCm39) L1977P probably damaging Het
Nme4 G T 17: 26,314,389 (GRCm39) A13E probably benign Het
Or52s6 G A 7: 103,091,850 (GRCm39) P160L probably damaging Het
Or52z15 T A 7: 103,332,404 (GRCm39) F160I probably benign Het
Pappa G A 4: 65,258,962 (GRCm39) R1570Q probably damaging Het
Parp6 G A 9: 59,531,213 (GRCm39) A32T Het
Pclo A G 5: 14,731,068 (GRCm39) Q64R Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pramel21 T C 4: 143,341,600 (GRCm39) S10P possibly damaging Het
Prdm13 C G 4: 21,679,659 (GRCm39) R277P unknown Het
Prf1 A C 10: 61,136,216 (GRCm39) D164A probably damaging Het
Rarres1 A G 3: 67,386,924 (GRCm39) V226A probably damaging Het
Rest GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC 5: 77,429,651 (GRCm39) probably benign Het
Rnf123 A G 9: 107,948,375 (GRCm39) L106P probably damaging Het
Scnn1b A T 7: 121,511,326 (GRCm39) T338S probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc9a5 T C 8: 106,080,139 (GRCm39) V94A probably damaging Het
Slco4a1 A G 2: 180,106,478 (GRCm39) D220G probably benign Het
Spata31e2 T A 1: 26,723,485 (GRCm39) Q565L possibly damaging Het
Sult1c2 T C 17: 54,269,200 (GRCm39) D272G possibly damaging Het
Tgm1 T C 14: 55,946,355 (GRCm39) N427S probably damaging Het
Themis C A 10: 28,658,233 (GRCm39) T420N probably benign Het
Tnni3 A T 7: 4,521,376 (GRCm39) F209L probably damaging Het
Ttn T A 2: 76,745,912 (GRCm39) S5046C probably damaging Het
Tubb2a T A 13: 34,260,628 (GRCm39) I24L probably benign Het
Uevld C A 7: 46,587,746 (GRCm39) G318V probably damaging Het
Unkl T C 17: 25,448,350 (GRCm39) S308P probably benign Het
Vmn1r159 C A 7: 22,542,765 (GRCm39) C89F probably damaging Het
Wee2 T G 6: 40,437,977 (GRCm39) S302A probably benign Het
Ydjc T C 16: 16,965,666 (GRCm39) C144R probably benign Het
Zc3h12c A G 9: 52,027,419 (GRCm39) S667P probably benign Het
Zfp280b T A 10: 75,874,651 (GRCm39) Y177N probably benign Het
Zfp354b C T 11: 50,814,362 (GRCm39) E188K 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
R9171:Amot UTSW X 144,244,745 (GRCm39) missense
RF023:Amot UTSW X 144,233,999 (GRCm39) unclassified probably benign
RF029:Amot UTSW X 144,233,984 (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'- GCAGAGATCTTCAGTGAATCAGC -3'
(R):5'- GACTCAATCCTTCTCTGATGGC -3'

Sequencing Primer
(F):5'- ATGAGTCATCACCCATGCTTAGGG -3'
(R):5'- CTGATGGCTATTTTCCAGCTG -3'
Posted On 2022-02-07