Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02143:Amot'

281651

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02143

Quality Score

Status

Chromosome

Chromosomal Location

144229420-144288145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144270024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 204 (Q204H)

Ref Sequence

ENSEMBL: ENSMUSP00000108455 (fasta)

Gene Model

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

AlphaFold

Q8VHG2

Predicted Effect

probably benign
Transcript: ENSMUST00000112835

SMART Domains

Protein: ENSMUSP00000108454
Gene: ENSMUSG00000041688

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: Q204H

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

SMART Domains

Protein: ENSMUSP00000108455
Gene: ENSMUSG00000041688
AA Change: Q204H

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: Q6H

SMART Domains

Protein: ENSMUSP00000116189
Gene: ENSMUSG00000041688
AA Change: Q6H

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: Q22H

SMART Domains

Protein: ENSMUSP00000117777
Gene: ENSMUSG00000041688
AA Change: Q22H

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

probably damaging
Transcript: ENSMUST00000143610
AA Change: Q204H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120226
Gene: ENSMUSG00000041688
AA Change: Q204H

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,194,278 (GRCm39)	M1T	probably null	Het
Ager	G	A	17: 34,818,092 (GRCm39)	G183E	probably damaging	Het
Alcam	C	A	16: 52,125,982 (GRCm39)	V112L	probably damaging	Het
Ankar	C	T	1: 72,697,808 (GRCm39)		probably null	Het
Armc9	A	G	1: 86,104,587 (GRCm39)	M279V	possibly damaging	Het
Bpifb1	C	T	2: 154,051,849 (GRCm39)	T218I	probably benign	Het
Cacna1f	A	C	X: 7,480,234 (GRCm39)		probably benign	Het
Cacna2d2	T	C	9: 107,395,474 (GRCm39)		probably null	Het
Ccdc57	A	T	11: 120,752,069 (GRCm39)	C837*	probably null	Het
Ctbp2	G	A	7: 132,592,885 (GRCm39)	A808V	probably damaging	Het
Dcbld2	T	C	16: 58,268,889 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,328,754 (GRCm39)		probably benign	Het
Disp2	T	C	2: 118,620,450 (GRCm39)	F394S	probably damaging	Het
Dnah1	T	C	14: 31,005,246 (GRCm39)	N2336S	probably damaging	Het
Drap1	C	A	19: 5,473,871 (GRCm39)	L66F	probably damaging	Het
Eif5a2	C	T	3: 28,847,888 (GRCm39)	R109C	probably benign	Het
Enpp1	A	T	10: 24,553,872 (GRCm39)	D105E	probably damaging	Het
Evi5l	G	A	8: 4,241,293 (GRCm39)	M275I	probably damaging	Het
Flt1	T	C	5: 147,515,246 (GRCm39)	T1059A	probably benign	Het
Fndc3c1	T	C	X: 105,516,340 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,396,813 (GRCm39)	V645A	possibly damaging	Het
Gm7735	T	A	16: 88,966,437 (GRCm39)	C20*	probably null	Het
Ighv1-42	G	T	12: 114,900,906 (GRCm39)	P60T	probably benign	Het
Jakmip2	A	T	18: 43,696,350 (GRCm39)	L533Q	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Lpin2	T	C	17: 71,550,921 (GRCm39)	S694P	probably damaging	Het
Mab21l2	C	T	3: 86,454,562 (GRCm39)	R146Q	possibly damaging	Het
Mmp1b	A	T	9: 7,386,400 (GRCm39)	S174T	probably benign	Het
Neb	T	C	2: 52,181,211 (GRCm39)	Y1132C	probably damaging	Het
Nhsl1	A	T	10: 18,387,383 (GRCm39)	H219L	possibly damaging	Het
Nwd2	T	A	5: 63,948,996 (GRCm39)		probably null	Het
Obp1a	A	C	X: 77,134,449 (GRCm39)	M18R	possibly damaging	Het
Or13a19	A	T	7: 139,903,505 (GRCm39)	K298*	probably null	Het
Or2ag13	T	C	7: 106,473,180 (GRCm39)	T91A	probably benign	Het
Pabpc5	T	A	X: 118,837,688 (GRCm39)	M1K	probably null	Het
Paxip1	A	G	5: 27,980,596 (GRCm39)		probably benign	Het
Perm1	A	G	4: 156,302,500 (GRCm39)	E348G	probably benign	Het
Pfkfb1	T	C	X: 149,405,138 (GRCm39)	F170L	probably damaging	Het
Pou3f3	A	G	1: 42,737,686 (GRCm39)	M461V	probably benign	Het
Ppfia2	G	A	10: 106,693,360 (GRCm39)	D622N	probably damaging	Het
Prtg	T	G	9: 72,799,606 (GRCm39)	S801R	probably damaging	Het
Rars2	T	A	4: 34,623,404 (GRCm39)		probably benign	Het
Rasal1	A	G	5: 120,790,917 (GRCm39)	D35G	probably damaging	Het
Repin1	T	A	6: 48,574,055 (GRCm39)	L272Q	probably damaging	Het
Spmip5	C	A	19: 58,777,684 (GRCm39)	R34L	possibly damaging	Het
Stk36	T	C	1: 74,655,728 (GRCm39)		probably benign	Het
Tbxa2r	A	G	10: 81,170,320 (GRCm39)	T269A	probably benign	Het
Tmem132c	G	A	5: 127,640,466 (GRCm39)	R879Q	probably benign	Het
Vmn1r78	C	A	7: 11,886,407 (GRCm39)	A6E	probably benign	Het
Vps45	A	T	3: 95,941,133 (GRCm39)	N369K	probably benign	Het
Vps45	T	C	3: 95,926,958 (GRCm39)	I530V	probably benign	Het
Zkscan16	G	A	4: 58,956,911 (GRCm39)	G398R	probably damaging	Het

Other mutations in Amot

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16