Mutagenetix > Incidental Mutation

Incidental Mutation 'R0179:Amotl1'

43478

Institutional Source

Beutler Lab

Gene Symbol

Amotl1

Ensembl Gene

ENSMUSG00000013076

Gene Name

angiomotin-like 1

Synonyms

2310067L22Rik, JEAP, 2310010G08Rik, 4932416D09Rik

MMRRC Submission

038447-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0179 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14453262-14556352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 14460069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 890 (A890V)

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: A853V

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000013220
Gene: ENSMUSG00000013076
AA Change: A853V

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: A890V

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0772

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (81/83)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	C	T	16: 85,592,353 (GRCm39)	S948N	probably benign	Het
Adck1	A	T	12: 88,425,942 (GRCm39)	M457L	possibly damaging	Het
Adprm	A	T	11: 66,929,051 (GRCm39)	H313Q	possibly damaging	Het
Adss1	T	C	12: 112,598,703 (GRCm39)	I104T	probably benign	Het
Agxt2	A	C	15: 10,399,134 (GRCm39)	Q435P	possibly damaging	Het
Ankrd50	A	G	3: 38,509,463 (GRCm39)	V968A	possibly damaging	Het
Brf2	T	C	8: 27,615,896 (GRCm39)	D163G	possibly damaging	Het
Cd226	C	A	18: 89,225,263 (GRCm39)	N53K	probably benign	Het
Cdc42ep2	T	C	19: 5,968,636 (GRCm39)	D23G	probably benign	Het
Cdc7	T	C	5: 107,112,905 (GRCm39)	S8P	probably benign	Het
Cdh8	C	T	8: 99,838,344 (GRCm39)	E499K	possibly damaging	Het
Chd7	T	A	4: 8,862,516 (GRCm39)	F2534L	probably benign	Het
Ckb	T	C	12: 111,636,610 (GRCm39)	T255A	probably benign	Het
Cntnap5c	G	T	17: 58,076,620 (GRCm39)	W19L	probably benign	Het
Cntrl	A	G	2: 35,057,871 (GRCm39)	E1854G	probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cop1	A	G	1: 159,077,636 (GRCm39)	D157G	probably benign	Het
Csf2rb	A	C	15: 78,220,572 (GRCm39)	Q38P	possibly damaging	Het
Ctla2b	T	C	13: 61,044,107 (GRCm39)	D52G	possibly damaging	Het
Dcaf7	A	T	11: 105,942,623 (GRCm39)	D190V	probably damaging	Het
Depdc5	T	A	5: 33,058,918 (GRCm39)		probably benign	Het
Dgkq	A	G	5: 108,806,066 (GRCm39)		probably benign	Het
Dhrs2	A	G	14: 55,477,933 (GRCm39)	T222A	probably damaging	Het
Dock1	G	A	7: 134,700,566 (GRCm39)	D1109N	probably damaging	Het
E4f1	G	C	17: 24,670,411 (GRCm39)	T92S	possibly damaging	Het
Ep400	A	T	5: 110,816,515 (GRCm39)	S2669T	probably damaging	Het
Eprs1	T	G	1: 185,145,744 (GRCm39)	D1184E	probably benign	Het
Fpr-rs4	A	T	17: 18,242,289 (GRCm39)	K99*	probably null	Het
Fzr1	A	T	10: 81,204,904 (GRCm39)		probably benign	Het
Gcc2	C	T	10: 58,112,472 (GRCm39)	R1001C	probably benign	Het
Gm4884	A	G	7: 40,693,252 (GRCm39)	D407G	probably benign	Het
Golga4	A	T	9: 118,389,808 (GRCm39)		probably null	Het
Gp2	T	G	7: 119,051,540 (GRCm39)	D225A	possibly damaging	Het
Gramd1a	T	A	7: 30,841,843 (GRCm39)	T120S	probably damaging	Het
Hbb-bh2	T	A	7: 103,488,434 (GRCm39)	N121I	probably benign	Het
Htr6	A	T	4: 138,789,437 (GRCm39)	L276Q	probably damaging	Het
Itga9	A	T	9: 118,490,454 (GRCm39)	I262F	probably benign	Het
Lamc3	A	G	2: 31,805,096 (GRCm39)		probably benign	Het
Large1	T	C	8: 73,825,474 (GRCm39)	N200S	probably benign	Het
Lct	C	T	1: 128,255,422 (GRCm39)	V207I	probably benign	Het
Marf1	C	A	16: 13,969,040 (GRCm39)	L144F	probably damaging	Het
Morc2b	A	T	17: 33,355,956 (GRCm39)	Y605*	probably null	Het
Mtus1	G	T	8: 41,455,398 (GRCm39)	L87I	possibly damaging	Het
Muc2	A	G	7: 141,302,708 (GRCm39)	Y17C	probably damaging	Het
Myf5	T	C	10: 107,321,779 (GRCm39)	D5G	possibly damaging	Het
Nasp	C	T	4: 116,459,354 (GRCm39)	V375M	probably damaging	Het
Nr1h2	A	T	7: 44,201,689 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,155,468 (GRCm39)	Q447R	probably benign	Het
Ntn5	G	A	7: 45,335,737 (GRCm39)	G56D	probably damaging	Het
Oasl2	A	G	5: 115,048,973 (GRCm39)	R138G	probably benign	Het
Or4c29	A	T	2: 88,740,237 (GRCm39)	C167S	possibly damaging	Het
Or5b124	T	A	19: 13,610,504 (GRCm39)	F10I	probably damaging	Het
Or9k7	T	C	10: 130,046,207 (GRCm39)	Y264C	probably damaging	Het
Pcdhb5	G	A	18: 37,455,612 (GRCm39)	G664D	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,424 (GRCm39)	E128G	probably damaging	Het
Prpf19	T	C	19: 10,875,172 (GRCm39)		probably benign	Het
Ptpn3	T	A	4: 57,270,118 (GRCm39)	T15S	probably benign	Het
R3hdm2	G	A	10: 127,330,975 (GRCm39)	C818Y	probably damaging	Het
Rad51d	A	G	11: 82,780,824 (GRCm39)	V39A	possibly damaging	Het
Rptor	A	T	11: 119,763,193 (GRCm39)	T926S	probably benign	Het
Rwdd4a	G	A	8: 47,995,742 (GRCm39)	D41N	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Spata31g1	T	C	4: 42,972,214 (GRCm39)	S516P	probably benign	Het
Ssbp3	T	C	4: 106,903,585 (GRCm39)	S334P	probably damaging	Het
Suco	A	G	1: 161,703,874 (GRCm39)		probably benign	Het
Synj1	T	C	16: 90,761,519 (GRCm39)	K649R	possibly damaging	Het
Tdp2	C	T	13: 25,024,431 (GRCm39)	H243Y	possibly damaging	Het
Tinag	A	G	9: 76,904,164 (GRCm39)		probably benign	Het
Trerf1	T	C	17: 47,627,588 (GRCm39)		noncoding transcript	Het
Trip10	T	C	17: 57,569,349 (GRCm39)		probably benign	Het
Tsen54	A	T	11: 115,712,856 (GRCm39)	S131C	probably damaging	Het
Unc5c	A	T	3: 141,523,828 (GRCm39)	R794*	probably null	Het
Vmn2r59	A	T	7: 41,696,432 (GRCm39)	Y103*	probably null	Het
Washc5	A	G	15: 59,224,379 (GRCm39)	V460A	probably benign	Het
Wdr87-ps	A	G	7: 29,235,365 (GRCm39)		noncoding transcript	Het
Whamm	A	G	7: 81,243,763 (GRCm39)	T358A	probably benign	Het
Xlr4b	C	T	X: 72,262,277 (GRCm39)		probably benign	Het
Zbbx	C	T	3: 74,992,869 (GRCm39)		probably benign	Het
Zdhhc23	G	A	16: 43,794,066 (GRCm39)	P203S	probably benign	Het
Zfp27	T	A	7: 29,595,850 (GRCm39)	E38D	possibly damaging	Het

Other mutations in Amotl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Amotl1	APN	9	14,483,011 (GRCm39)	splice site	probably benign
IGL02750:Amotl1	APN	9	14,460,087 (GRCm39)	missense	probably benign	0.34
R0071:Amotl1	UTSW	9	14,460,069 (GRCm39)	missense	probably benign	0.25
R0071:Amotl1	UTSW	9	14,460,069 (GRCm39)	missense	probably benign	0.25
R0094:Amotl1	UTSW	9	14,486,683 (GRCm39)	missense	probably benign	0.12
R0094:Amotl1	UTSW	9	14,486,683 (GRCm39)	missense	probably benign	0.12
R0178:Amotl1	UTSW	9	14,460,069 (GRCm39)	missense	probably benign	0.25
R0853:Amotl1	UTSW	9	14,504,074 (GRCm39)	missense	probably damaging	0.99
R0941:Amotl1	UTSW	9	14,507,854 (GRCm39)	missense	possibly damaging	0.90
R1447:Amotl1	UTSW	9	14,467,038 (GRCm39)	missense	probably benign
R1689:Amotl1	UTSW	9	14,504,518 (GRCm39)	missense	probably damaging	0.99
R1692:Amotl1	UTSW	9	14,463,018 (GRCm39)	missense	possibly damaging	0.94
R1858:Amotl1	UTSW	9	14,486,697 (GRCm39)	missense	probably benign	0.34
R2158:Amotl1	UTSW	9	14,486,465 (GRCm39)	missense	probably benign	0.00
R2184:Amotl1	UTSW	9	14,486,686 (GRCm39)	missense	probably benign	0.00
R3040:Amotl1	UTSW	9	14,484,069 (GRCm39)	missense	probably benign	0.42
R4226:Amotl1	UTSW	9	14,504,974 (GRCm39)	missense	probably benign	0.00
R4776:Amotl1	UTSW	9	14,504,669 (GRCm39)	nonsense	probably null
R4854:Amotl1	UTSW	9	14,504,747 (GRCm39)	nonsense	probably null
R5283:Amotl1	UTSW	9	14,469,780 (GRCm39)	missense	probably damaging	1.00
R5478:Amotl1	UTSW	9	14,504,048 (GRCm39)	critical splice donor site	probably null
R5562:Amotl1	UTSW	9	14,486,593 (GRCm39)	missense	possibly damaging	0.56
R5970:Amotl1	UTSW	9	14,507,824 (GRCm39)	missense	probably damaging	1.00
R6265:Amotl1	UTSW	9	14,482,951 (GRCm39)	missense	possibly damaging	0.93
R6974:Amotl1	UTSW	9	14,556,216 (GRCm39)	nonsense	probably null
R7016:Amotl1	UTSW	9	14,504,995 (GRCm39)	missense	probably damaging	0.99
R7058:Amotl1	UTSW	9	14,486,532 (GRCm39)	missense	possibly damaging	0.94
R7317:Amotl1	UTSW	9	14,486,515 (GRCm39)	missense	probably benign	0.02
R7730:Amotl1	UTSW	9	14,467,059 (GRCm39)	missense	possibly damaging	0.53
R7994:Amotl1	UTSW	9	14,504,657 (GRCm39)	missense	probably damaging	0.98
R7996:Amotl1	UTSW	9	14,505,001 (GRCm39)	missense	possibly damaging	0.94
R8077:Amotl1	UTSW	9	14,461,798 (GRCm39)	missense	probably damaging	1.00
R8116:Amotl1	UTSW	9	14,466,868 (GRCm39)	critical splice donor site	probably null
R8140:Amotl1	UTSW	9	14,484,011 (GRCm39)	splice site	probably null
R8362:Amotl1	UTSW	9	14,556,218 (GRCm39)	missense	probably benign	0.26
R8364:Amotl1	UTSW	9	14,556,218 (GRCm39)	missense	probably benign	0.26
R8526:Amotl1	UTSW	9	14,473,492 (GRCm39)	missense	probably damaging	1.00
R8855:Amotl1	UTSW	9	14,466,869 (GRCm39)	critical splice donor site	probably null
R8904:Amotl1	UTSW	9	14,469,861 (GRCm39)	missense	probably damaging	1.00
R9179:Amotl1	UTSW	9	14,461,787 (GRCm39)	missense	possibly damaging	0.89
R9228:Amotl1	UTSW	9	14,504,320 (GRCm39)	missense	possibly damaging	0.69
R9361:Amotl1	UTSW	9	14,504,677 (GRCm39)	missense	probably benign	0.03
R9513:Amotl1	UTSW	9	14,526,063 (GRCm39)	missense	probably benign
R9563:Amotl1	UTSW	9	14,473,513 (GRCm39)	missense	possibly damaging	0.95
R9564:Amotl1	UTSW	9	14,473,513 (GRCm39)	missense	possibly damaging	0.95
R9620:Amotl1	UTSW	9	14,459,969 (GRCm39)	missense	probably damaging	1.00
R9654:Amotl1	UTSW	9	14,462,981 (GRCm39)	missense	probably benign	0.19
R9750:Amotl1	UTSW	9	14,504,102 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACACATGGTCTGACGTGGCTTC -3'
(R):5'- CCACTGGTCCAACGTGGTTTTCTG -3'

Sequencing Primer
(F):5'- GTCTGACGTGGCTTCCTGAC -3'
(R):5'- TATATGGAACTGGGCACATGATAC -3'

Posted On

2013-05-24