Mutagenetix > Incidental Mutation

Incidental Mutation 'R2184:Amotl1'

237359

Institutional Source

Beutler Lab

Gene Symbol

Amotl1

Ensembl Gene

ENSMUSG00000013076

Gene Name

angiomotin-like 1

Synonyms

2310067L22Rik, JEAP, 2310010G08Rik, 4932416D09Rik

MMRRC Submission

040186-MU

Accession Numbers

Essential gene?

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

Stock #

R2184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14453262-14556352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14486686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 440 (M440L)

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: M403L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000013220
Gene: ENSMUSG00000013076
AA Change: M403L

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: M440L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,019,389 (GRCm39)	R184G	probably damaging	Het
2300002M23Rik	C	A	17: 35,879,115 (GRCm39)	A151E	probably benign	Het
A930011G23Rik	C	T	5: 99,380,228 (GRCm39)	R339Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,642 (GRCm39)	Y57C	probably benign	Het
Adprhl1	A	G	8: 13,292,559 (GRCm39)	V244A	probably benign	Het
Agl	T	C	3: 116,574,426 (GRCm39)	N753D	probably benign	Het
Angpt2	A	G	8: 18,742,132 (GRCm39)	Y475H	probably benign	Het
Angpt4	A	T	2: 151,780,874 (GRCm39)	H374L	probably damaging	Het
Ank1	A	T	8: 23,599,270 (GRCm39)	T801S	probably damaging	Het
Ap5m1	G	T	14: 49,323,752 (GRCm39)	A481S	probably damaging	Het
AY358078	G	T	14: 52,063,445 (GRCm39)	G364W	probably damaging	Het
C4b	C	A	17: 34,956,676 (GRCm39)	A641S	probably benign	Het
Capn13	T	C	17: 73,672,943 (GRCm39)	Y120C	probably damaging	Het
Cbx6	T	C	15: 79,712,762 (GRCm39)	T222A	probably benign	Het
Cckar	T	C	5: 53,860,254 (GRCm39)	T192A	probably damaging	Het
Cdc42bpb	T	C	12: 111,262,478 (GRCm39)	D30G	probably damaging	Het
Cdk18	A	G	1: 132,043,690 (GRCm39)	Y385H	probably damaging	Het
Cep170	A	T	1: 176,584,542 (GRCm39)	D612E	probably benign	Het
Dennd4b	G	T	3: 90,182,847 (GRCm39)	R888L	probably damaging	Het
Egf	A	T	3: 129,517,007 (GRCm39)	C373*	probably null	Het
Gabrb2	T	C	11: 42,312,255 (GRCm39)		probably null	Het
Gle1	G	T	2: 29,839,030 (GRCm39)	A482S	probably damaging	Het
Gm10644	T	C	8: 84,660,256 (GRCm39)	T30A	possibly damaging	Het
Gmnn	A	G	13: 24,937,706 (GRCm39)	Y95H	probably damaging	Het
Hectd3	T	A	4: 116,858,100 (GRCm39)	S643T	possibly damaging	Het
Hoga1	A	G	19: 42,049,830 (GRCm39)	Y225C	probably damaging	Het
Hook3	T	C	8: 26,609,011 (GRCm39)	E11G	probably benign	Het
Hsd17b1	C	A	11: 100,969,357 (GRCm39)	S30R	probably benign	Het
Htr3b	G	A	9: 48,858,544 (GRCm39)	P112S	probably damaging	Het
Iqch	T	A	9: 63,432,351 (GRCm39)	D348V	probably damaging	Het
Irgm2	A	T	11: 58,111,254 (GRCm39)	N327I	probably benign	Het
Itgb4	T	C	11: 115,870,450 (GRCm39)	I93T	probably damaging	Het
Lamb2	T	C	9: 108,357,752 (GRCm39)	F92L	probably damaging	Het
Lats2	T	C	14: 57,929,016 (GRCm39)	H953R	probably damaging	Het
Lrp1b	T	C	2: 40,620,714 (GRCm39)	E3588G	probably benign	Het
Marchf1	A	G	8: 66,840,075 (GRCm39)	E286G	probably benign	Het
Mc2r	G	T	18: 68,541,196 (GRCm39)	F32L	probably benign	Het
Mink1	C	T	11: 70,494,623 (GRCm39)	T268M	probably damaging	Het
Mta1	G	A	12: 113,093,815 (GRCm39)		probably null	Het
Muc5b	C	A	7: 141,412,601 (GRCm39)	S1849*	probably null	Het
Myh15	A	G	16: 48,957,874 (GRCm39)	E897G	probably damaging	Het
Nobox	T	C	6: 43,281,819 (GRCm39)	Q418R	possibly damaging	Het
Obsl1	G	T	1: 75,478,861 (GRCm39)	Q626K	probably benign	Het
Or11h4	A	G	14: 50,974,059 (GRCm39)	S187P	probably damaging	Het
Or13a24	T	C	7: 140,154,315 (GRCm39)	V83A	probably benign	Het
Or1j12	A	G	2: 36,343,046 (GRCm39)	T150A	probably benign	Het
Or2w25	T	A	11: 59,503,964 (GRCm39)	M58K	probably damaging	Het
Or5w14	G	A	2: 87,541,549 (GRCm39)	R234C	probably damaging	Het
Or8k24	G	A	2: 86,216,489 (GRCm39)	T91I	probably benign	Het
Or9i1	A	G	19: 13,839,399 (GRCm39)	I81V	probably benign	Het
Pald1	C	T	10: 61,182,915 (GRCm39)	A345T	possibly damaging	Het
Pde8b	G	A	13: 95,162,723 (GRCm39)	P800S	probably damaging	Het
Pgm2l1	G	A	7: 99,917,362 (GRCm39)	C493Y	possibly damaging	Het
Pias3	A	G	3: 96,609,537 (GRCm39)	S311G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,362,692 (GRCm39)	N573D	possibly damaging	Het
Plaat3	A	G	19: 7,556,583 (GRCm39)	D128G	probably damaging	Het
Plxnc1	T	G	10: 94,780,131 (GRCm39)	S104R	probably damaging	Het
Pofut2	T	A	10: 77,103,059 (GRCm39)	F179I	probably damaging	Het
Prkcsh	T	A	9: 21,916,028 (GRCm39)	C112S	probably damaging	Het
Prss32	G	A	17: 24,078,297 (GRCm39)	A328T	probably benign	Het
Ptgir	G	T	7: 16,642,708 (GRCm39)	R103L	probably damaging	Het
Ptpn5	G	A	7: 46,738,350 (GRCm39)	S244F	probably damaging	Het
Rnpepl1	G	A	1: 92,844,545 (GRCm39)	V346I	probably benign	Het
Sh3rf1	T	A	8: 61,825,688 (GRCm39)	V561D	probably damaging	Het
Slc22a19	A	T	19: 7,687,026 (GRCm39)	Y160N	probably benign	Het
Sorbs3	A	G	14: 70,428,880 (GRCm39)		probably null	Het
Sostdc1	T	G	12: 36,367,295 (GRCm39)	I157S	probably damaging	Het
Svil	G	T	18: 5,099,534 (GRCm39)	R1777L	probably damaging	Het
Svil	A	T	18: 5,099,615 (GRCm39)	E1804V	probably damaging	Het
Tasor	T	A	14: 27,188,141 (GRCm39)	N862K	possibly damaging	Het
Thbs4	A	G	13: 92,911,302 (GRCm39)	S294P	probably benign	Het
Tle2	A	G	10: 81,426,111 (GRCm39)	Y750C	probably damaging	Het
Tmcc3	T	C	10: 94,418,168 (GRCm39)	L312P	probably damaging	Het
Tnip2	TCTCCT	TCT	5: 34,656,957 (GRCm39)		probably benign	Het
Tnpo2	T	A	8: 85,780,475 (GRCm39)	M734K	probably benign	Het
Trmt2a	A	T	16: 18,070,859 (GRCm39)	R531W	probably benign	Het
Ubn2	C	T	6: 38,461,029 (GRCm39)	R483W	probably damaging	Het
Zc3hav1	T	A	6: 38,284,343 (GRCm39)	Y924F	probably 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
R0179: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
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'- TGAAGCTCCTGGTGAAGCAC -3'
(R):5'- CCTGCCGCTTAACTTAGCAG -3'

Sequencing Primer
(F):5'- GAAGCACACGGTTCTCCTCTG -3'
(R):5'- CCGCTTAACTTAGCAGAGTGTGAG -3'

Posted On

2014-10-02