Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02750:Amotl1'

306240

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Amotl1

Ensembl Gene

ENSMUSG00000013076

Gene Name

angiomotin-like 1

Synonyms

JEAP, 2310067L22Rik, 2310010G08Rik, 4932416D09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL02750

Quality Score

Status

Chromosome

Chromosomal Location

14541966-14645056 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14548791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 884 (K884R)

Ref Sequence

ENSEMBL: ENSMUSP00000152834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013220] [ENSMUST00000223132]

AlphaFold

Q9D4H4

Predicted Effect

probably benign
Transcript: ENSMUST00000013220
AA Change: K847R

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000013220
Gene: ENSMUSG00000013076
AA Change: K847R

Domain	Start	End	E-Value	Type
low complexity region	203	224	N/A	INTRINSIC
low complexity region	418	441	N/A	INTRINSIC
coiled coil region	449	472	N/A	INTRINSIC
Blast:PAC	491	532	1e-10	BLAST
low complexity region	562	575	N/A	INTRINSIC
Pfam:Angiomotin_C	616	822	4.4e-96	PFAM
low complexity region	853	878	N/A	INTRINSIC
low complexity region	881	895	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160770

SMART Domains

Protein: ENSMUSP00000124281
Gene: ENSMUSG00000013076

Domain	Start	End	E-Value	Type
low complexity region	117	138	N/A	INTRINSIC
low complexity region	332	355	N/A	INTRINSIC
coiled coil region	363	386	N/A	INTRINSIC
Blast:PAC	405	446	1e-10	BLAST
low complexity region	476	489	N/A	INTRINSIC
Pfam:Angiomotin_C	530	738	5.2e-95	PFAM
low complexity region	767	792	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223132
AA Change: K884R

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano3	T	A	2: 110,665,984		probably benign	Het
Baz2b	C	A	2: 59,968,658	S374I	possibly damaging	Het
Brd4	G	A	17: 32,198,379		probably benign	Het
Cd3g	C	A	9: 44,971,310		probably benign	Het
Ckmt1	C	T	2: 121,363,615		probably benign	Het
Clcnkb	T	C	4: 141,405,362		probably null	Het
Dkkl1	C	T	7: 45,210,112		probably null	Het
Ehmt1	G	A	2: 24,863,869	T161I	probably damaging	Het
Ern2	A	G	7: 122,181,406		probably benign	Het
Fmnl2	T	C	2: 53,103,697	I368T	possibly damaging	Het
Gabra5	G	T	7: 57,507,991	S25Y	probably benign	Het
Gemin7	C	T	7: 19,565,419	V84M	probably null	Het
Gm17654	A	G	14: 43,578,199		probably benign	Het
Grk6	T	C	13: 55,451,543	F186S	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,889	H663R	probably damaging	Het
Gtf3c1	T	A	7: 125,676,512	I581F	probably damaging	Het
Herc2	T	A	7: 56,204,379		probably benign	Het
Hook3	A	T	8: 26,095,754		probably benign	Het
Ints4	T	A	7: 97,517,757		probably null	Het
Kpna6	T	C	4: 129,661,377	N20D	probably damaging	Het
Krtap29-1	T	C	11: 99,978,684	S124G	probably benign	Het
Krtap4-16	C	A	11: 99,851,280	R98L	possibly damaging	Het
Lrrc28	T	C	7: 67,531,683	D268G	probably damaging	Het
Mcm6	T	A	1: 128,343,472	Q470L	probably damaging	Het
Neb	T	C	2: 52,291,055	H1180R	probably benign	Het
Nxpe3	C	A	16: 55,860,375	V285L	probably benign	Het
Olfr118	T	A	17: 37,672,609	C195*	probably null	Het
Olfr1281	A	G	2: 111,329,288	R290G	probably damaging	Het
Olfr307	T	A	7: 86,335,544	N284I	probably damaging	Het
Pdcd1	A	G	1: 94,039,544		probably benign	Het
Pnkp	A	G	7: 44,860,187		probably benign	Het
Pou4f2	A	T	8: 78,435,063	F304I	probably damaging	Het
Rita1	G	A	5: 120,609,651	T194M	possibly damaging	Het
Rnpc3	T	C	3: 113,621,939	T150A	possibly damaging	Het
Sema3b	T	C	9: 107,603,164	T168A	probably benign	Het
Skint5	T	A	4: 113,539,362	M1205L	unknown	Het
Sox13	A	C	1: 133,383,796	I566S	probably benign	Het
Tbc1d32	T	C	10: 56,198,491	T209A	possibly damaging	Het
Tonsl	G	T	15: 76,633,389	P710Q	probably damaging	Het
Trpm5	T	C	7: 143,074,484	H1018R	possibly damaging	Het
Ubr2	A	T	17: 46,969,282	M647K	probably benign	Het
Ubr7	A	T	12: 102,771,278	T395S	possibly damaging	Het
Uri1	G	A	7: 37,967,481	R176*	probably null	Het
Vmn1r188	A	T	13: 22,088,730	I285F	probably damaging	Het
Vmn2r116	T	A	17: 23,397,634		probably benign	Het
Vmn2r2	C	A	3: 64,117,402	C586F	probably damaging	Het
Vmn2r96	T	A	17: 18,582,589	W62R	probably benign	Het
Zfp24	A	T	18: 24,017,353	S167T	possibly damaging	Het
Zfp462	A	G	4: 55,060,236	K1254R	probably null	Het

Other mutations in Amotl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Amotl1	APN	9	14571715	splice site	probably benign
R0071:Amotl1	UTSW	9	14548773	missense	probably benign	0.25
R0071:Amotl1	UTSW	9	14548773	missense	probably benign	0.25
R0094:Amotl1	UTSW	9	14575387	missense	probably benign	0.12
R0094:Amotl1	UTSW	9	14575387	missense	probably benign	0.12
R0178:Amotl1	UTSW	9	14548773	missense	probably benign	0.25
R0179:Amotl1	UTSW	9	14548773	missense	probably benign	0.25
R0853:Amotl1	UTSW	9	14592778	missense	probably damaging	0.99
R0941:Amotl1	UTSW	9	14596558	missense	possibly damaging	0.90
R1447:Amotl1	UTSW	9	14555742	missense	probably benign
R1689:Amotl1	UTSW	9	14593222	missense	probably damaging	0.99
R1692:Amotl1	UTSW	9	14551722	missense	possibly damaging	0.94
R1858:Amotl1	UTSW	9	14575401	missense	probably benign	0.34
R2158:Amotl1	UTSW	9	14575169	missense	probably benign	0.00
R2184:Amotl1	UTSW	9	14575390	missense	probably benign	0.00
R3040:Amotl1	UTSW	9	14572773	missense	probably benign	0.42
R4226:Amotl1	UTSW	9	14593678	missense	probably benign	0.00
R4776:Amotl1	UTSW	9	14593373	nonsense	probably null
R4854:Amotl1	UTSW	9	14593451	nonsense	probably null
R5283:Amotl1	UTSW	9	14558484	missense	probably damaging	1.00
R5478:Amotl1	UTSW	9	14592752	critical splice donor site	probably null
R5562:Amotl1	UTSW	9	14575297	missense	possibly damaging	0.56
R5970:Amotl1	UTSW	9	14596528	missense	probably damaging	1.00
R6265:Amotl1	UTSW	9	14571655	missense	possibly damaging	0.93
R6974:Amotl1	UTSW	9	14644920	nonsense	probably null
R7016:Amotl1	UTSW	9	14593699	missense	probably damaging	0.99
R7058:Amotl1	UTSW	9	14575236	missense	possibly damaging	0.94
R7317:Amotl1	UTSW	9	14575219	missense	probably benign	0.02
R7730:Amotl1	UTSW	9	14555763	missense	possibly damaging	0.53
R7994:Amotl1	UTSW	9	14593361	missense	probably damaging	0.98
R7996:Amotl1	UTSW	9	14593705	missense	possibly damaging	0.94
R8077:Amotl1	UTSW	9	14550502	missense	probably damaging	1.00
R8116:Amotl1	UTSW	9	14555572	critical splice donor site	probably null
R8140:Amotl1	UTSW	9	14572715	splice site	probably null
R8362:Amotl1	UTSW	9	14644922	missense	probably benign	0.26
R8364:Amotl1	UTSW	9	14644922	missense	probably benign	0.26
R8526:Amotl1	UTSW	9	14562196	missense	probably damaging	1.00
R8855:Amotl1	UTSW	9	14555573	critical splice donor site	probably null
R8904:Amotl1	UTSW	9	14558565	missense	probably damaging	1.00
R9179:Amotl1	UTSW	9	14550491	missense	possibly damaging	0.89
R9228:Amotl1	UTSW	9	14593024	missense	possibly damaging	0.69
R9361:Amotl1	UTSW	9	14593381	missense	probably benign	0.03
R9513:Amotl1	UTSW	9	14614767	missense	probably benign
R9563:Amotl1	UTSW	9	14562217	missense	possibly damaging	0.95
R9564:Amotl1	UTSW	9	14562217	missense	possibly damaging	0.95
R9620:Amotl1	UTSW	9	14548673	missense	probably damaging	1.00
R9654:Amotl1	UTSW	9	14551685	missense	probably benign	0.19
R9750:Amotl1	UTSW	9	14592806	missense	probably benign	0.00

Posted On

2015-04-16