Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:Amn'

29899

Institutional Source

Beutler Lab

Gene Symbol

Amn

Ensembl Gene

ENSMUSG00000021278

Gene Name

amnionless

Synonyms

5033428N14Rik

MMRRC Submission

038563-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0357 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

111237530-111242860 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 111240575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021707]

AlphaFold

Q99JB7

Predicted Effect

probably null
Transcript: ENSMUST00000021707

SMART Domains

Protein: ENSMUSP00000021707
Gene: ENSMUSG00000021278

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Amnionless	21	451	6.4e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220903

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: This gene encodes a type I transmembrane protein. The encoded protein is an essential component of the cubulin receptor complex which is thought to play a role in coordinating growth and patterning of the embryo. This protein is thought to modulate a bone morphogenetic protein (BMP) signaling pathway. A homoygous mutation in the mouse gene results in the lack of an amnion in embryos. Mutations in the human gene are associated with Megaloblastic Anemia-1. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene results in embryonic growth arrest between the mid and late streak stages of gastrulation and abnormal ectoderm formation, followed by death. Generation of middle primitive streak derivatives is impaired, leading to absence of mesoderm and somites. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	T	C	5: 24,778,463 (GRCm39)	K232E	probably benign	Het
AI837181	C	T	19: 5,476,731 (GRCm39)	T298I	possibly damaging	Het
Alox12	T	C	11: 70,133,362 (GRCm39)	Y614C	probably damaging	Het
Ankrd33b	A	G	15: 31,305,272 (GRCm39)	S121P	probably benign	Het
Aox1	A	G	1: 58,131,675 (GRCm39)	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314 (GRCm39)	R736L	probably benign	Het
Atp2a3	G	A	11: 72,861,757 (GRCm39)		probably null	Het
Cables2	T	C	2: 179,904,025 (GRCm39)		probably benign	Het
Catsperg2	A	T	7: 29,414,326 (GRCm39)	Y360N	possibly damaging	Het
Cdh4	T	C	2: 179,489,133 (GRCm39)	S282P	probably damaging	Het
Col5a3	C	T	9: 20,719,064 (GRCm39)		probably benign	Het
Ctso	A	T	3: 81,858,850 (GRCm39)		probably benign	Het
Cyp4f13	A	T	17: 33,151,625 (GRCm39)	Y125*	probably null	Het
Dapk1	T	A	13: 60,877,372 (GRCm39)	L537*	probably null	Het
Ddit4l	G	A	3: 137,331,946 (GRCm39)	R104Q	probably benign	Het
Def6	C	T	17: 28,442,909 (GRCm39)	H322Y	probably damaging	Het
Dnaaf9	A	T	2: 130,554,866 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,165,342 (GRCm39)	N588D	probably benign	Het
Dzip1	T	A	14: 119,146,950 (GRCm39)	I320F	probably damaging	Het
Epb41l5	T	C	1: 119,536,934 (GRCm39)	H319R	probably damaging	Het
Erc2	A	G	14: 27,498,979 (GRCm39)	E285G	probably damaging	Het
Fat4	G	A	3: 38,945,376 (GRCm39)	G1423E	probably damaging	Het
Foxp2	C	T	6: 15,409,839 (GRCm39)	P480S	probably damaging	Het
Gadd45gip1	G	A	8: 85,560,762 (GRCm39)	A126T	probably damaging	Het
Gbp5	G	A	3: 142,211,172 (GRCm39)	D301N	probably benign	Het
Gm10360	T	C	6: 70,401,297 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,387,604 (GRCm39)		noncoding transcript	Het
Gm8674	T	A	13: 50,056,149 (GRCm39)		noncoding transcript	Het
H2bc18	A	C	3: 96,177,104 (GRCm39)	K13Q	probably null	Het
Ift172	A	G	5: 31,415,244 (GRCm39)	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,821,986 (GRCm39)	Y686*	probably null	Het
Insrr	A	C	3: 87,715,953 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,945,019 (GRCm39)	M580K	probably benign	Het
Krt87	C	T	15: 101,384,900 (GRCm39)	V399M	probably benign	Het
Macf1	T	C	4: 123,351,776 (GRCm39)	N3708S	probably damaging	Het
Matcap1	A	T	8: 106,011,699 (GRCm39)	V222E	probably damaging	Het
Mogat1	T	C	1: 78,488,677 (GRCm39)	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,631,574 (GRCm39)	M9K	probably benign	Het
Mtus1	A	T	8: 41,536,563 (GRCm39)	S384R	possibly damaging	Het
Myo1a	T	A	10: 127,546,771 (GRCm39)	M306K	probably benign	Het
Noxa1	G	T	2: 24,975,862 (GRCm39)	D403E	probably damaging	Het
Ogdhl	T	C	14: 32,068,415 (GRCm39)	V884A	possibly damaging	Het
Or10ak12	A	C	4: 118,666,614 (GRCm39)	L149R	probably damaging	Het
Or2y1f	A	G	11: 49,184,613 (GRCm39)	N155S	probably damaging	Het
Or6k4	T	A	1: 173,964,865 (GRCm39)	L185*	probably null	Het
Or6n1	T	C	1: 173,916,675 (GRCm39)	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,963,621 (GRCm39)		probably benign	Het
Paxx	T	A	2: 25,350,079 (GRCm39)	E145D	probably damaging	Het
Pde4d	T	C	13: 110,087,802 (GRCm39)	V560A	possibly damaging	Het
Pheta2	C	T	15: 82,227,517 (GRCm39)	A12V	probably damaging	Het
Plxnd1	C	T	6: 115,946,421 (GRCm39)	V847M	probably benign	Het
Polk	T	A	13: 96,641,105 (GRCm39)	M151L	probably damaging	Het
Ptprq	C	T	10: 107,522,060 (GRCm39)		probably benign	Het
Pum2	A	G	12: 8,771,785 (GRCm39)	Q371R	possibly damaging	Het
Reln	G	A	5: 22,155,820 (GRCm39)	A2224V	probably damaging	Het
Rmc1	T	C	18: 12,312,266 (GRCm39)	S169P	possibly damaging	Het
Scart1	T	G	7: 139,807,808 (GRCm39)	C660G	probably damaging	Het
Shroom1	A	G	11: 53,356,035 (GRCm39)	T362A	probably damaging	Het
Smarcd2	A	G	11: 106,158,158 (GRCm39)		probably null	Het
Spg11	A	C	2: 121,896,713 (GRCm39)		probably benign	Het
Tcaf3	T	A	6: 42,566,761 (GRCm39)	Y776F	probably damaging	Het
Thada	A	G	17: 84,538,364 (GRCm39)	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,481,130 (GRCm39)	P410S	probably damaging	Het
Ube2u	G	T	4: 100,338,851 (GRCm39)	E39*	probably null	Het
Ulbp3	A	T	10: 3,070,307 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,075,788 (GRCm39)		noncoding transcript	Het
Vmn2r2	C	T	3: 64,041,320 (GRCm39)		probably null	Het
Vmn2r24	TCC	TC	6: 123,792,369 (GRCm39)		probably null	Het
Wdr87-ps	A	T	7: 29,235,007 (GRCm39)		noncoding transcript	Het
Zfp110	A	G	7: 12,570,302 (GRCm39)	Y43C	probably damaging	Het
Zfp605	A	G	5: 110,272,245 (GRCm39)	T55A	probably benign	Het

Other mutations in Amn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01479:Amn	APN	12	111,238,227 (GRCm39)	missense	probably damaging	0.97
IGL02397:Amn	APN	12	111,240,913 (GRCm39)	missense	possibly damaging	0.77
IGL02962:Amn	APN	12	111,240,951 (GRCm39)	missense	probably damaging	1.00
IGL02974:Amn	APN	12	111,237,575 (GRCm39)	missense	probably benign	0.01
IGL02837:Amn	UTSW	12	111,238,333 (GRCm39)	missense	possibly damaging	0.74
R1986:Amn	UTSW	12	111,241,431 (GRCm39)	missense	probably damaging	1.00
R1993:Amn	UTSW	12	111,242,526 (GRCm39)	missense	probably damaging	1.00
R2355:Amn	UTSW	12	111,238,246 (GRCm39)	missense	probably damaging	0.99
R3924:Amn	UTSW	12	111,242,114 (GRCm39)	missense	possibly damaging	0.71
R3925:Amn	UTSW	12	111,242,114 (GRCm39)	missense	possibly damaging	0.71
R4364:Amn	UTSW	12	111,238,196 (GRCm39)	missense	probably damaging	0.99
R4687:Amn	UTSW	12	111,242,502 (GRCm39)	missense	probably benign	0.35
R6176:Amn	UTSW	12	111,240,590 (GRCm39)	missense	possibly damaging	0.55
R6209:Amn	UTSW	12	111,241,845 (GRCm39)	missense	probably damaging	0.99
R6300:Amn	UTSW	12	111,240,623 (GRCm39)	missense	probably benign	0.16
R6591:Amn	UTSW	12	111,241,831 (GRCm39)	missense	possibly damaging	0.77
R6691:Amn	UTSW	12	111,241,831 (GRCm39)	missense	possibly damaging	0.77
R8475:Amn	UTSW	12	111,241,819 (GRCm39)	missense	probably benign	0.02
R8747:Amn	UTSW	12	111,241,440 (GRCm39)	missense	probably damaging	1.00
R9262:Amn	UTSW	12	111,237,585 (GRCm39)	nonsense	probably null
X0025:Amn	UTSW	12	111,241,833 (GRCm39)	missense	probably damaging	1.00
Z1088:Amn	UTSW	12	111,242,117 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GCCTCAGCCACGTTAAGGTTCC -3'
(R):5'- AAAGCAGTCAGGTCCTCGTCGC -3'

Sequencing Primer
(F):5'- AAGGTCGCAGCTTGGGTTTT -3'
(R):5'- ACGCGGAAAGATCCATCG -3'

Posted On

2013-04-24