Mutagenetix > Incidental Mutation

Incidental Mutation 'R1858:Amotl1'

206342

Institutional Source

Beutler Lab

Gene Symbol

Amotl1

Ensembl Gene

ENSMUSG00000013076

Gene Name

angiomotin-like 1

Synonyms

2310067L22Rik, JEAP, 2310010G08Rik, 4932416D09Rik

MMRRC Submission

039882-MU

Accession Numbers

Essential gene?

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

Stock #

R1858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14453262-14556352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14486697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 399 (Q399L)

Ref Sequence

ENSEMBL: ENSMUSP00000013220 (fasta)

Gene Model

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

AlphaFold

Q9D4H4

Predicted Effect

probably benign
Transcript: ENSMUST00000013220
AA Change: Q399L

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000013220
Gene: ENSMUSG00000013076
AA Change: Q399L

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: Q436L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0628

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.0%

Validation Efficiency

97% (112/116)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 12,045,177 (GRCm39)	A443E	unknown	Het
Acacb	A	T	5: 114,334,770 (GRCm39)	Y613F	probably benign	Het
Adam23	A	C	1: 63,596,615 (GRCm39)	I566L	probably benign	Het
Adar	G	T	3: 89,646,589 (GRCm39)	R338L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Ankrd16	T	G	2: 11,783,407 (GRCm39)	L3R	probably benign	Het
Arfgap1	G	C	2: 180,615,881 (GRCm39)	G187R	probably damaging	Het
Arhgap19	A	T	19: 41,767,592 (GRCm39)	V399D	probably benign	Het
Arl4d	A	G	11: 101,557,578 (GRCm39)	T35A	probably damaging	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Bptf	A	G	11: 106,964,127 (GRCm39)	M1574T	probably benign	Het
Cacna1h	T	A	17: 25,599,781 (GRCm39)	D1684V	probably damaging	Het
Celsr1	C	A	15: 85,916,960 (GRCm39)	V338F	probably damaging	Het
Cep164	T	C	9: 45,734,938 (GRCm39)		probably benign	Het
Clock	C	A	5: 76,388,756 (GRCm39)	G390C	possibly damaging	Het
Col6a6	A	G	9: 105,658,301 (GRCm39)	F637S	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cstdc3	A	T	16: 36,128,449 (GRCm39)	I15F	probably damaging	Het
Cul1	A	G	6: 47,502,458 (GRCm39)		probably null	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp3a57	T	C	5: 145,318,059 (GRCm39)	Y347H	probably damaging	Het
Dgkq	G	T	5: 108,801,597 (GRCm39)	T487K	probably benign	Het
Dmkn	T	C	7: 30,463,990 (GRCm39)	V143A	probably benign	Het
Dmp1	A	T	5: 104,355,496 (GRCm39)	E32V	possibly damaging	Het
Dsc3	T	C	18: 20,098,773 (GRCm39)	D802G	probably damaging	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dyrk1b	A	T	7: 27,882,071 (GRCm39)		probably null	Het
Ehd2	T	C	7: 15,686,113 (GRCm39)	T320A	probably benign	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif4e1b	A	G	13: 54,935,091 (GRCm39)		probably null	Het
Fam131b	A	G	6: 42,295,914 (GRCm39)	F161L	probably damaging	Het
Fam171b	A	T	2: 83,683,725 (GRCm39)	M81L	probably benign	Het
Gal3st4	T	C	5: 138,269,050 (GRCm39)		probably null	Het
Gdf11	A	T	10: 128,722,315 (GRCm39)	V180E	probably damaging	Het
Grin3a	T	A	4: 49,792,437 (GRCm39)	Y432F	probably benign	Het
Hif1a	C	A	12: 73,990,929 (GRCm39)	H708N	probably benign	Het
Hmcn2	G	T	2: 31,305,295 (GRCm39)		probably null	Het
Hs3st6	T	A	17: 24,976,973 (GRCm39)	M151K	possibly damaging	Het
Hyal2	T	A	9: 107,449,537 (GRCm39)	L431Q	probably benign	Het
Hyal6	A	T	6: 24,740,857 (GRCm39)	T337S	probably benign	Het
Igsf5	A	T	16: 96,187,829 (GRCm39)		probably null	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Krtap19-3	G	A	16: 88,674,878 (GRCm39)		probably benign	Het
Lgalsl	T	C	11: 20,779,420 (GRCm39)	D75G	probably benign	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Ltbp2	T	A	12: 84,877,555 (GRCm39)	K337*	probably null	Het
Mdn1	C	T	4: 32,730,881 (GRCm39)	H2917Y	probably benign	Het
Medag	A	G	5: 149,353,259 (GRCm39)	I151M	probably damaging	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp3	A	G	9: 7,451,799 (GRCm39)	H379R	probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Ncoa6	G	T	2: 155,263,559 (GRCm39)	Q292K	probably benign	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nlrp4c	A	G	7: 6,087,655 (GRCm39)	I763V	probably benign	Het
Nlrp5	A	T	7: 23,117,586 (GRCm39)	I437F	probably damaging	Het
Noc2l	G	A	4: 156,329,727 (GRCm39)	R435Q	probably damaging	Het
Nova2	T	C	7: 18,692,326 (GRCm39)	I485T	probably damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Nup210l	A	G	3: 90,061,806 (GRCm39)	T662A	probably damaging	Het
Or2ad1	A	T	13: 21,326,564 (GRCm39)	I221N	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or2p2	A	T	13: 21,256,641 (GRCm39)	F277I	probably damaging	Het
Or51aa2	G	A	7: 103,187,859 (GRCm39)	T194I	probably damaging	Het
Or51e2	A	C	7: 102,391,571 (GRCm39)	I213S	probably damaging	Het
Or51l14	G	A	7: 103,101,332 (GRCm39)	V263I	probably benign	Het
Or9g8	T	C	2: 85,607,582 (GRCm39)	L218P	probably damaging	Het
Pelp1	G	A	11: 70,285,568 (GRCm39)	P767S	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Plaat1	G	A	16: 29,036,470 (GRCm39)	G36D	probably damaging	Het
Plcxd3	T	A	15: 4,546,093 (GRCm39)		probably benign	Het
Plekhg1	C	A	10: 3,895,917 (GRCm39)	D436E	possibly damaging	Het
Ppfibp1	G	A	6: 146,892,090 (GRCm39)	V117I	probably benign	Het
Prss44	A	G	9: 110,643,177 (GRCm39)	K24R	probably benign	Het
Ptger1	G	T	8: 84,395,107 (GRCm39)	G195W	probably benign	Het
Ptgs1	A	C	2: 36,132,782 (GRCm39)	D260A	probably benign	Het
Ptprd	T	A	4: 75,865,384 (GRCm39)	T1198S	probably damaging	Het
Qsox2	A	G	2: 26,104,074 (GRCm39)	S319P	probably damaging	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rapgef4	A	G	2: 71,861,408 (GRCm39)	I33V	possibly damaging	Het
Rbbp8nl	C	T	2: 179,924,006 (GRCm39)		probably benign	Het
Riok1	A	T	13: 38,242,694 (GRCm39)	K473*	probably null	Het
Rtca	C	T	3: 116,287,764 (GRCm39)	G288S	probably benign	Het
Sag	A	T	1: 87,742,570 (GRCm39)	D114V	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Sf3a3	A	T	4: 124,623,288 (GRCm39)	I440F	probably damaging	Het
Sgta	T	C	10: 80,884,695 (GRCm39)	K205E	possibly damaging	Het
Slc36a4	A	G	9: 15,632,006 (GRCm39)	T61A	probably damaging	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Srgap3	A	T	6: 112,748,479 (GRCm39)	L391Q	probably damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Styxl2	T	C	1: 165,928,415 (GRCm39)	Y399C	possibly damaging	Het
Syt12	G	T	19: 4,497,825 (GRCm39)	H386N	probably damaging	Het
Thyn1	T	A	9: 26,915,070 (GRCm39)	M74K	probably benign	Het
Tmem130	C	A	5: 144,689,093 (GRCm39)		probably null	Het
Trim71	A	G	9: 114,392,016 (GRCm39)	V57A	possibly damaging	Het
Twf1	T	C	15: 94,483,428 (GRCm39)		probably benign	Het
Tyro3	T	A	2: 119,632,176 (GRCm39)	I81N	possibly damaging	Het
Unc13a	A	T	8: 72,105,043 (GRCm39)	C740S	probably damaging	Het
Vmn1r15	A	T	6: 57,235,616 (GRCm39)	K161N	probably benign	Het
Vmn1r16	A	T	6: 57,299,884 (GRCm39)	I246N	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vmn2r35	T	C	7: 7,819,805 (GRCm39)	Y155C	possibly damaging	Het
Wif1	T	A	10: 120,919,788 (GRCm39)		probably null	Het
Wscd2	G	A	5: 113,689,231 (GRCm39)	R79Q	possibly damaging	Het
Zan	G	T	5: 137,404,139 (GRCm39)		probably benign	Het
Zfp9	G	T	6: 118,442,021 (GRCm39)	H214N	probably benign	Het
Zfp985	A	T	4: 147,667,315 (GRCm39)	Y61F	probably benign	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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'- AAGCACACGGTTCTCCTCTG -3'
(R):5'- ATACTACCTGAGCCTTAACCTGC -3'

Sequencing Primer
(F):5'- GTCAGGATCTCTACCATTTGCTG -3'
(R):5'- TGCCGCTTAACTTAGCAGAG -3'

Posted On

2014-06-23