Mutagenetix > Incidental Mutation

Incidental Mutation 'R9166:Amot'

696104

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 #

R9166 (G1)

Quality Score

221.999

Status

Validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,853,046 (GRCm39)	L30P	possibly damaging	Het
Adgrb1	A	C	15: 74,420,475 (GRCm39)	M875L	probably benign	Het
Ankrd13c	T	A	3: 157,705,357 (GRCm39)	S427T	probably benign	Het
Aopep	G	A	13: 63,318,862 (GRCm39)		probably null	Het
Ap3b1	A	C	13: 94,608,236 (GRCm39)	Y569S	probably damaging	Het
Bco2	A	G	9: 50,447,667 (GRCm39)	V352A	probably benign	Het
Bltp1	T	A	3: 37,041,516 (GRCm39)	N2630K	probably damaging	Het
Cacnb1	T	A	11: 97,910,534 (GRCm39)	D48V	probably damaging	Het
Cdr2l	C	A	11: 115,283,537 (GRCm39)	Q132K	probably benign	Het
Chrd	T	C	16: 20,554,572 (GRCm39)	M377T	probably benign	Het
Coq7	T	C	7: 118,109,365 (GRCm39)	T228A	unknown	Het
D7Ertd443e	G	A	7: 133,900,048 (GRCm39)	T438I	probably benign	Het
Dlc1	C	T	8: 37,066,589 (GRCm39)	E15K	probably damaging	Het
Dlgap5	C	T	14: 47,651,206 (GRCm39)	R109Q	probably damaging	Het
Dysf	T	C	6: 84,126,959 (GRCm39)	V1359A	probably damaging	Het
E2f7	C	T	10: 110,618,085 (GRCm39)	P717S	probably benign	Het
Elmo2	T	C	2: 165,132,438 (GRCm39)	D669G	probably benign	Het
Epha6	A	G	16: 60,425,238 (GRCm39)	V125A	probably benign	Het
Erg	G	T	16: 95,190,807 (GRCm39)	H119N	probably benign	Het
Fam13b	T	C	18: 34,595,252 (GRCm39)	S371G	probably benign	Het
Fancg	G	C	4: 43,006,800 (GRCm39)	Q297E	probably benign	Het
Gas2	A	G	7: 51,586,323 (GRCm39)	E145G	possibly damaging	Het
Gas7	T	C	11: 67,561,446 (GRCm39)	V218A	probably benign	Het
Gm9970	A	G	5: 31,398,345 (GRCm39)	S78P	unknown	Het
Hectd4	A	C	5: 121,446,690 (GRCm39)	D259A	probably damaging	Het
Hoxb2	T	G	11: 96,244,339 (GRCm39)	S317A	probably damaging	Het
Hspg2	T	C	4: 137,270,185 (GRCm39)	L2381P	probably damaging	Het
Irf4	A	T	13: 30,941,484 (GRCm39)	H280L	probably benign	Het
Irf7	A	G	7: 140,844,666 (GRCm39)	V142A	probably benign	Het
Kat7	T	C	11: 95,190,928 (GRCm39)	I94V	probably benign	Het
Kera	T	A	10: 97,448,830 (GRCm39)	I350K	possibly damaging	Het
Klf15	T	C	6: 90,443,952 (GRCm39)	S176P	probably benign	Het
Lrrc59	C	A	11: 94,522,959 (GRCm39)	T53N	probably benign	Het
Morn5	T	C	2: 35,945,024 (GRCm39)	Y83H	probably damaging	Het
Myef2l	A	G	3: 10,153,849 (GRCm39)	N206S	probably benign	Het
Neil3	A	C	8: 54,058,722 (GRCm39)	M273R	probably damaging	Het
Ngfr	A	T	11: 95,465,047 (GRCm39)	V267E	possibly damaging	Het
Nudc	T	C	4: 133,273,165 (GRCm39)	D11G	probably damaging	Het
Or2t1	A	T	14: 14,329,059 (GRCm38)	D316V	probably benign	Het
Or4a81	T	A	2: 89,619,291 (GRCm39)	N135I	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3cg	C	T	12: 32,242,213 (GRCm39)	G966R	probably damaging	Het
Ppfibp1	A	G	6: 146,920,980 (GRCm39)	T573A	probably damaging	Het
Ppp2r5a	C	A	1: 191,128,504 (GRCm39)	R37L	probably benign	Het
Prpf8	T	C	11: 75,387,340 (GRCm39)	F1207S	possibly damaging	Het
Prtg	A	T	9: 72,764,107 (GRCm39)	I527F	probably damaging	Het
Pspc1	A	G	14: 56,999,305 (GRCm39)	M317T	probably damaging	Het
Ptpru	C	T	4: 131,525,180 (GRCm39)	V768I	probably benign	Het
Ptx4	A	G	17: 25,343,546 (GRCm39)		probably null	Het
Ralgapb	T	C	2: 158,274,842 (GRCm39)		probably null	Het
Rhobtb2	C	A	14: 70,034,703 (GRCm39)	G174V	probably damaging	Het
Sdad1	G	T	5: 92,446,080 (GRCm39)	S285*	probably null	Het
Sema4f	G	T	6: 82,890,626 (GRCm39)	S727*	probably null	Het
Sik1	A	G	17: 32,069,727 (GRCm39)	F241L	probably damaging	Het
Slc8b1	T	C	5: 120,662,096 (GRCm39)	S279P	probably benign	Het
Slco4a1	A	G	2: 180,106,034 (GRCm39)	E72G	probably benign	Het
Smok3c	A	T	5: 138,063,781 (GRCm39)	T423S	possibly damaging	Het
Sorcs3	T	C	19: 48,784,811 (GRCm39)	V1078A	probably benign	Het
Sptb	A	G	12: 76,673,776 (GRCm39)	V337A	probably damaging	Het
Tet2	C	A	3: 133,173,933 (GRCm39)	G1443V	probably damaging	Het
Ticam2	A	T	18: 46,694,048 (GRCm39)	L13H	probably damaging	Het
Tnrc6a	A	G	7: 122,786,624 (GRCm39)	E1562G	probably damaging	Het
Trim24	A	T	6: 37,934,074 (GRCm39)	K742N	probably damaging	Het
Trim56	A	T	5: 137,142,751 (GRCm39)	V255E	probably damaging	Het
Trmt12	A	G	15: 58,744,608 (GRCm39)	E2G	probably benign	Het
Tubd1	A	T	11: 86,452,091 (GRCm39)	T353S	probably benign	Het
Vim	T	C	2: 13,579,556 (GRCm39)	V105A	probably benign	Het
Vmn2r58	A	T	7: 41,513,431 (GRCm39)	V404E	probably damaging	Het
Wdr62	G	A	7: 29,941,874 (GRCm39)	P1115L	probably damaging	Het
Wfdc12	G	T	2: 164,032,193 (GRCm39)	C32*	probably null	Het
Zfp750	T	A	11: 121,403,980 (GRCm39)	R298S	probably damaging	Het

Other mutations in Amot

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGCAGAGATCTTCAGTGAATCAGC -3'
(R):5'- GACTCAATCCTTCTCTGATGGC -3'

Sequencing Primer
(F):5'- ATGAGTCATCACCCATGCTTAGGG -3'
(R):5'- CTGATGGCTATTTTCCAGCTG -3'

Posted On

2022-02-07