Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Amot'

250253

Institutional Source

Beutler Lab

Gene Symbol

Amot

Ensembl Gene

ENSMUSG00000041688

Gene Name

angiomotin

Synonyms

E230009N18Rik, D0Kist1, Sii6

MMRRC Submission

040388-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R2426 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

144229420-144288145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144259287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 460 (K460E)

Ref Sequence

ENSEMBL: ENSMUSP00000108455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112835] [ENSMUST00000112836] [ENSMUST00000143610]

AlphaFold

Q8VHG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000112835
AA Change: K71E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108454
Gene: ENSMUSG00000041688
AA Change: K71E

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: K460E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108455
Gene: ENSMUSG00000041688
AA Change: K460E

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

unknown
Transcript: ENSMUST00000125271
AA Change: K262E

SMART Domains

Protein: ENSMUSP00000116189
Gene: ENSMUSG00000041688
AA Change: K262E

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

unknown
Transcript: ENSMUST00000138187
AA Change: K278E

SMART Domains

Protein: ENSMUSP00000117777
Gene: ENSMUSG00000041688
AA Change: K278E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143610
AA Change: K460E

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120226
Gene: ENSMUSG00000041688
AA Change: K460E

Domain	Start	End	E-Value	Type
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	2e-12	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,882,446 (GRCm39)	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,075,025 (GRCm39)	V131I	probably benign	Het
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,071,650 (GRCm39)	V324A	probably damaging	Het
Ahnak	A	T	19: 8,980,215 (GRCm39)	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,575,266 (GRCm39)	D851G	probably damaging	Het
Arhgef3	G	T	14: 27,106,138 (GRCm39)	E161*	probably null	Het
Atg9b	A	T	5: 24,591,992 (GRCm39)	I669N	probably damaging	Het
Ccdc83	A	G	7: 89,877,639 (GRCm39)	Y268H	probably damaging	Het
Cep170	A	G	1: 176,602,201 (GRCm39)	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,428,213 (GRCm39)	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,770,813 (GRCm39)	Y231F	probably benign	Het
Defa39	T	G	8: 22,192,653 (GRCm39)	K114N	possibly damaging	Het
Dock3	A	T	9: 106,791,740 (GRCm39)	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,469,861 (GRCm39)	I629N	probably damaging	Het
Dst	A	T	1: 34,231,893 (GRCm39)	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,383,906 (GRCm39)	P343L	probably benign	Het
Fbrs	A	G	7: 127,086,511 (GRCm39)		probably null	Het
Fbxl13	A	C	5: 21,727,135 (GRCm39)	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,534,673 (GRCm39)	S164T	probably damaging	Het
Gdi2	T	G	13: 3,612,034 (GRCm39)	S330A	probably benign	Het
Gm5878	A	T	6: 85,095,613 (GRCm39)	M70K	probably benign	Het
H2-Q6	G	T	17: 35,643,913 (GRCm39)	A21S	probably benign	Het
Hfm1	A	T	5: 106,995,519 (GRCm39)		probably null	Het
Hnmt	C	T	2: 23,909,167 (GRCm39)	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,485,779 (GRCm39)	A310D	probably damaging	Het
Ints1	A	T	5: 139,757,569 (GRCm39)		probably null	Het
Kcne4	C	A	1: 78,795,688 (GRCm39)	A112E	possibly damaging	Het
Krt32	T	C	11: 99,977,192 (GRCm39)	K236R	possibly damaging	Het
Maml2	T	C	9: 13,617,794 (GRCm39)	L380P	probably damaging	Het
Meis1	A	T	11: 18,938,356 (GRCm39)	D218E	possibly damaging	Het
Mon1b	G	A	8: 114,365,752 (GRCm39)	G360D	probably damaging	Het
Mpp4	A	G	1: 59,169,216 (GRCm39)	S383P	probably damaging	Het
Neb	A	G	2: 52,059,065 (GRCm39)		probably null	Het
Nlgn2	A	T	11: 69,717,912 (GRCm39)	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,439,481 (GRCm39)	L134P	probably damaging	Het
Opcml	G	A	9: 28,814,663 (GRCm39)		probably null	Het
Or2t29	A	T	11: 58,433,920 (GRCm39)	Y127*	probably null	Het
Or6c207	T	C	10: 129,105,135 (GRCm39)	Q19R	probably benign	Het
Or7c19	T	C	8: 85,957,693 (GRCm39)	S190P	probably damaging	Het
Pate2	A	T	9: 35,581,776 (GRCm39)		probably null	Het
Pgr	G	A	9: 8,900,718 (GRCm39)	V84M	probably damaging	Het
Pigu	A	T	2: 155,141,002 (GRCm39)	V296D	probably damaging	Het
Plcb2	G	A	2: 118,546,130 (GRCm39)	T555M	probably damaging	Het
Pld5	T	G	1: 175,791,542 (GRCm39)	D426A	probably benign	Het
Prdm2	G	T	4: 142,838,320 (GRCm39)	C1679*	probably null	Het
Psme2b	A	T	11: 48,836,890 (GRCm39)	V19D	probably benign	Het
Ptpn9	A	T	9: 56,934,712 (GRCm39)	N159Y	possibly damaging	Het
Sanbr	T	A	11: 23,526,801 (GRCm39)	R190W	probably damaging	Het
Sdc3	A	T	4: 130,546,114 (GRCm39)	T64S	unknown	Het
Serping1	T	G	2: 84,600,563 (GRCm39)	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,050,150 (GRCm39)	F436S	probably benign	Het
Sntb1	A	T	15: 55,769,575 (GRCm39)	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spink1	G	T	18: 43,868,287 (GRCm39)	S23*	probably null	Het
Stag1	T	C	9: 100,727,169 (GRCm39)		probably null	Het
Tnfaip8l1	G	A	17: 56,479,030 (GRCm39)	V107I	probably benign	Het
Tnik	A	G	3: 28,700,830 (GRCm39)	S907G	probably damaging	Het
Ttf1	T	A	2: 28,957,197 (GRCm39)	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp54	G	A	14: 20,615,008 (GRCm39)	A811V	probably benign	Het
Xirp2	A	G	2: 67,344,815 (GRCm39)	N2352S	probably benign	Het
Zan	T	C	5: 137,387,254 (GRCm39)	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,254,012 (GRCm39)	S161P	probably benign	Het
Zkscan5	A	T	5: 145,157,750 (GRCm39)	I751L	probably benign	Het
Zscan4d	A	G	7: 10,899,022 (GRCm39)	F85S	probably damaging	Het
Zzef1	A	G	11: 72,806,091 (GRCm39)	M2647V	probably benign	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
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
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'- GGGTGGCATAGTCCCAAATTTTC -3'
(R):5'- CATTTGAGTCATTGACTGAGCTTAC -3'

Sequencing Primer
(F):5'- ATCAGATGTCGTGGCACATGC -3'
(R):5'- TACAGTCTATCTGAAAGGAGATGC -3'

Posted On

2014-11-12