Mutagenetix > Incidental Mutation

Incidental Mutation 'R1793:Amot'

202005

Institutional Source

Beutler Lab

Gene Symbol

Amot

Ensembl Gene

ENSMUSG00000041688

Gene Name

angiomotin

Synonyms

E230009N18Rik, D0Kist1, Sii6

MMRRC Submission

039823-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.761) question?

Stock #

R1793 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

144229420-144288145 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 144233585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8VHG2

Predicted Effect

unknown
Transcript: ENSMUST00000112835
AA Change: P653L

SMART Domains

Protein: ENSMUSP00000108454
Gene: ENSMUSG00000041688
AA Change: P653L

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

unknown
Transcript: ENSMUST00000112836
AA Change: P1042L

SMART Domains

Protein: ENSMUSP00000108455
Gene: ENSMUSG00000041688
AA Change: P1042L

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: P844L

SMART Domains

Protein: ENSMUSP00000116189
Gene: ENSMUSG00000041688
AA Change: P844L

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

probably benign
Transcript: ENSMUST00000138187

SMART Domains

Protein: ENSMUSP00000117777
Gene: ENSMUSG00000041688

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

100% (122/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,144 (GRCm39)	H571Q	probably damaging	Het
Abcf2	T	A	5: 24,773,774 (GRCm39)	M372L	probably benign	Het
Acaca	A	C	11: 84,206,795 (GRCm39)	T1552P	probably damaging	Het
Acaca	A	G	11: 84,229,219 (GRCm39)	D1682G	probably damaging	Het
Acvr1b	T	C	15: 101,091,906 (GRCm39)	V62A	probably benign	Het
Aimp1	C	T	3: 132,379,825 (GRCm39)	V97M	probably benign	Het
Aldh1l1	C	T	6: 90,554,813 (GRCm39)	T557I	possibly damaging	Het
Alpk1	T	C	3: 127,471,447 (GRCm39)	T1012A	probably damaging	Het
Arap1	T	A	7: 101,037,829 (GRCm39)	H477Q	probably benign	Het
Arhgap18	T	A	10: 26,736,732 (GRCm39)		probably benign	Het
Arhgef10l	C	T	4: 140,242,684 (GRCm39)	V862M	probably damaging	Het
Arl4d	A	G	11: 101,557,554 (GRCm39)	I27V	probably benign	Het
Asb18	G	A	1: 89,942,277 (GRCm39)	P8L	probably damaging	Het
Ash1l	A	G	3: 88,977,616 (GRCm39)	H2682R	probably damaging	Het
Aspm	T	A	1: 139,385,079 (GRCm39)	V241E	probably benign	Het
Atf7ip	G	T	6: 136,586,217 (GRCm39)		probably benign	Het
AY358078	T	G	14: 52,042,051 (GRCm39)	M142R	unknown	Het
C3	T	A	17: 57,526,592 (GRCm39)	K796N	possibly damaging	Het
Ceacam16	T	C	7: 19,590,041 (GRCm39)	T301A	probably damaging	Het
Ceacam5	T	G	7: 17,481,320 (GRCm39)	Y356D	probably benign	Het
Cep192	C	T	18: 67,984,838 (GRCm39)	A1616V	possibly damaging	Het
Cfap91	T	A	16: 38,141,781 (GRCm39)	N384Y	possibly damaging	Het
Cherp	A	T	8: 73,216,994 (GRCm39)	H645Q	probably benign	Het
CK137956	T	C	4: 127,845,242 (GRCm39)	D167G	probably benign	Het
Clcn1	T	A	6: 42,275,860 (GRCm39)		probably null	Het
Cntn1	C	T	15: 92,189,552 (GRCm39)	T625I	possibly damaging	Het
Cpn2	T	A	16: 30,078,142 (GRCm39)	N520Y	probably damaging	Het
Crocc	G	A	4: 140,746,620 (GRCm39)	R1762W	probably damaging	Het
Cts3	C	A	13: 61,715,967 (GRCm39)	V100F	probably benign	Het
Ddx56	A	T	11: 6,216,934 (GRCm39)	V87D	probably damaging	Het
Dnah9	C	T	11: 66,010,420 (GRCm39)		probably null	Het
Dock1	T	A	7: 134,700,456 (GRCm39)		probably null	Het
Dst	T	A	1: 34,191,552 (GRCm39)	Y291*	probably null	Het
Eif4g3	T	C	4: 137,898,442 (GRCm39)	I1071T	probably damaging	Het
Fblim1	T	C	4: 141,322,549 (GRCm39)	Q78R	probably damaging	Het
Fcamr	C	T	1: 130,739,284 (GRCm39)	P195S	probably benign	Het
Fcho1	G	A	8: 72,161,666 (GRCm39)	Q835*	probably null	Het
Frem3	A	G	8: 81,339,741 (GRCm39)	N678S	probably benign	Het
Frk	G	A	10: 34,483,878 (GRCm39)	R413H	probably benign	Het
Gm10619	C	A	7: 73,459,758 (GRCm39)		noncoding transcript	Het
Gm12185	G	A	11: 48,806,583 (GRCm39)	R203*	probably null	Het
Gm12886	A	G	4: 121,280,174 (GRCm39)	V34A	probably benign	Het
Gna12	A	T	5: 140,746,707 (GRCm39)	I246N	probably damaging	Het
Gpm6a	T	C	8: 55,507,867 (GRCm39)	M201T	probably benign	Het
Gpsm2	T	G	3: 108,608,225 (GRCm39)	D220A	probably benign	Het
Grip2	C	G	6: 91,760,623 (GRCm39)	V325L	probably benign	Het
Grk5	C	A	19: 61,065,200 (GRCm39)	A288D	probably damaging	Het
Herpud2	G	A	9: 25,021,953 (GRCm39)	A231V	possibly damaging	Het
Hmcn1	T	C	1: 150,624,834 (GRCm39)	S1024G	probably benign	Het
Hp1bp3	A	G	4: 137,957,820 (GRCm39)	D295G	probably damaging	Het
Igsf21	T	C	4: 139,761,703 (GRCm39)	H325R	probably damaging	Het
Ing2	T	A	8: 48,122,364 (GRCm39)	L61F	probably damaging	Het
Jak3	T	C	8: 72,138,590 (GRCm39)		probably benign	Het
Kcnn3	T	A	3: 89,516,712 (GRCm39)	C374S	probably benign	Het
Klk1b22	A	G	7: 43,765,775 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,940,764 (GRCm39)	M630T	possibly damaging	Het
Lhx5	T	A	5: 120,572,725 (GRCm39)	C115S	probably damaging	Het
Lmcd1	C	A	6: 112,305,712 (GRCm39)	T271K	probably benign	Het
Lpar1	G	A	4: 58,486,798 (GRCm39)	R158*	probably null	Het
Lyst	T	A	13: 13,821,668 (GRCm39)	C1347*	probably null	Het
Map3k8	G	A	18: 4,332,389 (GRCm39)	Q441*	probably null	Het
Mboat1	T	C	13: 30,403,633 (GRCm39)	V144A	probably damaging	Het
Mcur1	C	T	13: 43,713,491 (GRCm39)	G38S	unknown	Het
Med13	T	A	11: 86,220,177 (GRCm39)	M276L	probably benign	Het
Mefv	A	G	16: 3,526,528 (GRCm39)	S699P	possibly damaging	Het
Mfsd4a	C	A	1: 131,987,077 (GRCm39)	A62S	probably damaging	Het
Mmp27	A	G	9: 7,571,459 (GRCm39)	M1V	probably null	Het
Myo1c	C	T	11: 75,548,415 (GRCm39)	T58I	probably damaging	Het
Myom3	A	T	4: 135,538,066 (GRCm39)	D1316V	probably benign	Het
Naa25	T	A	5: 121,555,478 (GRCm39)	C235S	possibly damaging	Het
Naa25	C	A	5: 121,558,656 (GRCm39)	R333S	probably damaging	Het
Nav3	G	A	10: 109,539,233 (GRCm39)	T2056I	probably benign	Het
Nol4	A	G	18: 22,902,878 (GRCm39)	Y378H	probably damaging	Het
Npat	G	A	9: 53,463,589 (GRCm39)	R124Q	probably damaging	Het
Npr3	T	A	15: 11,848,665 (GRCm39)	E434V	probably benign	Het
Nptx2	A	G	5: 144,485,130 (GRCm39)	T208A	probably benign	Het
Obscn	C	T	11: 58,968,606 (GRCm39)	V2798M	probably damaging	Het
Odad4	C	A	11: 100,460,679 (GRCm39)		probably null	Het
Or10j7	A	T	1: 173,011,976 (GRCm39)	H8Q	probably benign	Het
Or52r1	A	G	7: 102,537,250 (GRCm39)	Y37H	probably benign	Het
Or5b122	C	T	19: 13,562,779 (GRCm39)	T37I	probably benign	Het
Padi1	G	A	4: 140,541,967 (GRCm39)	P652S	probably damaging	Het
Pcdh1	G	T	18: 38,331,938 (GRCm39)	P355Q	probably damaging	Het
Pck2	G	A	14: 55,781,422 (GRCm39)	R189H	possibly damaging	Het
Pcsk5	T	A	19: 17,432,114 (GRCm39)	K1500N	possibly damaging	Het
Phc3	A	T	3: 31,002,865 (GRCm39)	S218T	probably damaging	Het
Piezo2	T	A	18: 63,239,355 (GRCm39)	M510L	possibly damaging	Het
Polr1g	T	C	7: 19,091,904 (GRCm39)	T68A	possibly damaging	Het
Ppp1r3a	A	T	6: 14,754,717 (GRCm39)	Y177N	probably damaging	Het
Psme2b	A	T	11: 48,836,361 (GRCm39)	D195E	probably damaging	Het
Ptprr	T	C	10: 116,088,827 (GRCm39)	V463A	probably damaging	Het
Pwwp2b	G	A	7: 138,836,281 (GRCm39)	R574Q	probably damaging	Het
Rap1gds1	T	A	3: 138,756,314 (GRCm39)	T14S	possibly damaging	Het
Rbm11	A	T	16: 75,397,685 (GRCm39)	K205M	probably damaging	Het
Rfx1	T	A	8: 84,793,050 (GRCm39)		probably benign	Het
Rnasel	C	A	1: 153,630,169 (GRCm39)	H228Q	probably damaging	Het
Sap130	T	A	18: 31,831,640 (GRCm39)	I710K	probably benign	Het
Slc27a4	C	A	2: 29,695,733 (GRCm39)	D89E	probably benign	Het
Spata31d1b	T	C	13: 59,863,779 (GRCm39)	V309A	probably benign	Het
Syt7	T	G	19: 10,421,354 (GRCm39)	Y420D	probably damaging	Het
Tanc2	A	G	11: 105,515,859 (GRCm39)		probably null	Het
Tbc1d10b	A	G	7: 126,802,930 (GRCm39)	S333P	possibly damaging	Het
Tenm2	G	A	11: 35,914,209 (GRCm39)	P2442S	probably damaging	Het
Tenm3	C	T	8: 49,127,579 (GRCm39)	C33Y	probably damaging	Het
Timmdc1	A	G	16: 38,319,419 (GRCm39)	L245P	possibly damaging	Het
Tlr5	T	C	1: 182,800,012 (GRCm39)	F5L	probably benign	Het
Ttll4	T	A	1: 74,726,999 (GRCm39)	F784L	possibly damaging	Het
Tulp4	A	G	17: 6,189,387 (GRCm39)	T70A	possibly damaging	Het
Txndc17	T	A	11: 72,099,571 (GRCm39)	N81K	probably benign	Het
Ubr3	C	T	2: 69,830,895 (GRCm39)		probably benign	Het
Uri1	A	C	7: 37,681,116 (GRCm39)	V96G	probably damaging	Het
Uspl1	T	A	5: 149,150,246 (GRCm39)	I482N	probably damaging	Het
Vmn1r229	A	G	17: 21,034,974 (GRCm39)	N73S	possibly damaging	Het
Vwa7	G	T	17: 35,243,388 (GRCm39)	G689*	probably null	Het
Zfp114	T	A	7: 23,877,164 (GRCm39)		probably null	Het
Zfp618	A	G	4: 63,051,474 (GRCm39)	S659G	probably damaging	Het
Zfp872	A	G	9: 22,111,349 (GRCm39)	K275R	probably damaging	Het
Zzef1	C	T	11: 72,777,535 (GRCm39)	P1789S	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCCGGAAAATTGTGATTACC -3'
(R):5'- CTGTTCAGATTCCAGCTGCTG -3'

Sequencing Primer
(F):5'- ACCTGGCTTATCTGGGTTGCAC -3'
(R):5'- AGATTCCAGCTGCTGCATCTC -3'

Posted On

2014-06-23