Mutagenetix > Incidental Mutation

Incidental Mutation 'R8116:Amotl1'

631207

Institutional Source

Beutler Lab

Gene Symbol

Amotl1

Ensembl Gene

ENSMUSG00000013076

Gene Name

angiomotin-like 1

Synonyms

2310067L22Rik, JEAP, 2310010G08Rik, 4932416D09Rik

MMRRC Submission

067545-MU

Accession Numbers

Essential gene?

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

Stock #

R8116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14453262-14556352 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 14466868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000013220 (fasta)

Gene Model

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

AlphaFold

Q9D4H4

Predicted Effect

probably null
Transcript: ENSMUST00000013220

SMART Domains

Protein: ENSMUSP00000013220
Gene: ENSMUSG00000013076

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

probably null
Transcript: ENSMUST00000223132

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,982,420 (GRCm39)	N7K	probably benign	Het
Akap9	T	A	5: 4,111,183 (GRCm39)	D3081E	probably benign	Het
Amer2	G	A	14: 60,616,854 (GRCm39)	A350T	probably damaging	Het
Ankib1	A	T	5: 3,752,995 (GRCm39)	V651E	probably damaging	Het
Aox1	T	C	1: 58,115,283 (GRCm39)	V756A	probably damaging	Het
Arap2	A	C	5: 62,887,954 (GRCm39)	I464S	probably benign	Het
Atp8a2	A	C	14: 60,263,657 (GRCm39)	M359R	probably damaging	Het
Aunip	T	C	4: 134,250,618 (GRCm39)	S188P	possibly damaging	Het
Cdt1	A	G	8: 123,298,728 (GRCm39)	E455G	probably benign	Het
Cyp2r1	G	T	7: 114,149,590 (GRCm39)	H475N	probably benign	Het
Dnah7a	G	T	1: 53,543,049 (GRCm39)	H2374N	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dst	G	A	1: 34,313,261 (GRCm39)	A4343T	probably benign	Het
Efcab3	A	G	11: 105,002,677 (GRCm39)	D304G	possibly damaging	Het
Efcc1	T	C	6: 87,728,772 (GRCm39)	L409P	probably damaging	Het
Eno1	G	T	4: 150,325,526 (GRCm39)	S37I	probably damaging	Het
Ermp1	A	T	19: 29,601,196 (GRCm39)	L517Q	probably damaging	Het
Farp1	T	G	14: 121,471,232 (GRCm39)	I196S	probably damaging	Het
Fbxo21	A	G	5: 118,128,919 (GRCm39)	T310A	possibly damaging	Het
Fbxo31	C	T	8: 122,287,127 (GRCm39)	V149M	probably damaging	Het
Ggcx	C	A	6: 72,406,511 (GRCm39)	T658N	possibly damaging	Het
Gpc5	A	C	14: 115,636,637 (GRCm39)	H440P	probably damaging	Het
H13	C	T	2: 152,537,446 (GRCm39)	A297V	probably damaging	Het
H2-DMb1	T	A	17: 34,374,443 (GRCm39)	L31Q	probably damaging	Het
Ifi207	G	A	1: 173,557,746 (GRCm39)	P331S	unknown	Het
Il11ra1	G	T	4: 41,766,251 (GRCm39)	A263S	probably benign	Het
Il1a	C	A	2: 129,144,864 (GRCm39)	V185F	probably damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kdm4d	T	A	9: 14,375,237 (GRCm39)	K207M	probably damaging	Het
Lrrc37	A	T	11: 103,434,115 (GRCm39)	M3018K	unknown	Het
Lrrc4b	T	C	7: 44,110,533 (GRCm39)	L135P	probably damaging	Het
Lrrk1	A	G	7: 65,912,371 (GRCm39)	Y1730H	possibly damaging	Het
Mcpt2	C	A	14: 56,279,663 (GRCm39)	A18D	probably damaging	Het
Mtmr4	C	T	11: 87,502,756 (GRCm39)	R937*	probably null	Het
Muc16	T	A	9: 18,570,033 (GRCm39)	T829S	unknown	Het
Myof	A	C	19: 37,921,167 (GRCm39)	I1365S	probably damaging	Het
Npc2	C	T	12: 84,807,612 (GRCm39)	R82Q	probably benign	Het
Or10ag2	T	A	2: 87,249,081 (GRCm39)	S228T	probably damaging	Het
Or10d1c	A	T	9: 38,894,169 (GRCm39)	M57K	probably damaging	Het
Or10j2	T	A	1: 173,098,047 (GRCm39)	F102I	possibly damaging	Het
Or2g25	G	A	17: 37,970,631 (GRCm39)	L198F	probably damaging	Het
Or4k45	T	C	2: 111,395,783 (GRCm39)	D2G	probably benign	Het
Or8b3b	A	T	9: 38,584,464 (GRCm39)	I92N	possibly damaging	Het
Or8d2b	T	A	9: 38,789,026 (GRCm39)	S185T	probably damaging	Het
Pdzph1	T	C	17: 59,282,138 (GRCm39)	N48S	probably benign	Het
Plce1	A	T	19: 38,513,262 (GRCm39)	H187L	probably benign	Het
Pramel6	G	T	2: 87,338,808 (GRCm39)	V3F	probably benign	Het
Prr5l	CCTCGCTCGCTCGCTCGC	CCTCGCTCGCTCGC	2: 101,627,919 (GRCm39)		probably null	Het
Pwwp3a	G	A	10: 80,076,231 (GRCm39)	G474S	probably damaging	Het
Rabgap1l	A	G	1: 160,530,012 (GRCm39)	Y358H	probably benign	Het
Rbbp8	T	C	18: 11,855,727 (GRCm39)	S625P	probably damaging	Het
Rhot1	A	T	11: 80,141,879 (GRCm39)	K461I	probably benign	Het
Rpa1	G	A	11: 75,193,501 (GRCm39)	T610I	possibly damaging	Het
Ryr1	G	T	7: 28,810,308 (GRCm39)	H316N	probably benign	Het
Shprh	T	C	10: 11,089,205 (GRCm39)	S1648P	probably damaging	Het
Sipa1	A	T	19: 5,702,140 (GRCm39)	D923E	possibly damaging	Het
Spata6	A	G	4: 111,685,517 (GRCm39)	Y474C	possibly damaging	Het
Sptbn1	A	T	11: 30,089,117 (GRCm39)	I715N	probably damaging	Het
Stab1	A	T	14: 30,880,910 (GRCm39)	D627E	possibly damaging	Het
Stard9	T	A	2: 120,495,420 (GRCm39)	C98*	probably null	Het
Tfpi2	T	C	6: 3,963,872 (GRCm39)	T187A	probably damaging	Het
Tmem63a	G	T	1: 180,788,048 (GRCm39)	K267N	probably benign	Het
Topaz1	C	T	9: 122,604,708 (GRCm39)	A1104V	probably benign	Het
Trmt11	A	G	10: 30,442,490 (GRCm39)	I231T	possibly damaging	Het
Utp15	G	A	13: 98,387,371 (GRCm39)	T401I	probably benign	Het
Vmn2r13	T	C	5: 109,322,926 (GRCm39)	K121R	probably benign	Het
Xab2	C	T	8: 3,663,830 (GRCm39)	R363H	probably damaging	Het
Zfand2b	T	A	1: 75,145,504 (GRCm39)	F3L	possibly damaging	Het
Zfyve28	A	T	5: 34,374,944 (GRCm39)	S357T	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
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
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'- AACAATGTAGATATTGCTCCCTGGG -3'
(R):5'- TGTGGCCTGTTTAGAACATCATG -3'

Sequencing Primer
(F):5'- TCCTTAGGAGCCCTGAA -3'
(R):5'- GTATTTCTCCAGAAACATGGCACAG -3'

Posted On

2020-06-30