Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01479:Amn'

88543

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Amn

Ensembl Gene

ENSMUSG00000021278

Gene Name

amnionless

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01479

Quality Score

Status

Chromosome

Chromosomal Location

111271095-111276426 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111271793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 47 (A47E)

Ref Sequence

ENSEMBL: ENSMUSP00000021707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021706] [ENSMUST00000021707] [ENSMUST00000060274] [ENSMUST00000117269]

AlphaFold

Q99JB7

Predicted Effect

probably benign
Transcript: ENSMUST00000021706

SMART Domains

Protein: ENSMUSP00000021706
Gene: ENSMUSG00000021277

Domain	Start	End	E-Value	Type
RING	52	87	5.85e-2	SMART
Pfam:zf-TRAF	135	191	4.6e-18	PFAM
Pfam:zf-TRAF	191	250	9.9e-14	PFAM
coiled coil region	298	337	N/A	INTRINSIC
MATH	419	542	5.69e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000021707
AA Change: A47E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021707
Gene: ENSMUSG00000021278
AA Change: A47E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000060274

SMART Domains

Protein: ENSMUSP00000058361
Gene: ENSMUSG00000021277

Domain	Start	End	E-Value	Type
RING	52	87	5.85e-2	SMART
Pfam:zf-TRAF	135	191	1.5e-17	PFAM
coiled coil region	273	312	N/A	INTRINSIC
MATH	394	517	5.69e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117269

SMART Domains

Protein: ENSMUSP00000112517
Gene: ENSMUSG00000021277

Domain	Start	End	E-Value	Type
RING	52	87	5.85e-2	SMART
Pfam:zf-TRAF	135	191	1.5e-17	PFAM
coiled coil region	273	312	N/A	INTRINSIC
MATH	394	517	5.69e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220903

Coding Region Coverage

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,272,935	K225R	probably benign	Het
Arhgef1	T	C	7: 24,912,603	I137T	probably benign	Het
Cep57l1	T	C	10: 41,728,639	K165E	possibly damaging	Het
Chfr	A	G	5: 110,144,993		probably benign	Het
Dnah9	A	G	11: 65,955,717	V2923A	probably benign	Het
Dnaja2	T	C	8: 85,553,951	Y35C	probably damaging	Het
Dnajc2	T	C	5: 21,757,893	T481A	probably damaging	Het
Foxred2	A	G	15: 77,952,289		probably null	Het
Gin1	C	T	1: 97,792,372	T364I	possibly damaging	Het
Glt8d2	C	T	10: 82,660,736	V163I	probably damaging	Het
Gm10118	T	C	10: 63,926,820		probably benign	Het
Hps5	C	T	7: 46,762,942		probably null	Het
Kdm4c	A	G	4: 74,343,501	K638E	probably benign	Het
L3mbtl2	A	G	15: 81,676,392	T285A	probably benign	Het
Mab21l1	A	G	3: 55,783,832	Y280C	probably damaging	Het
Mcoln2	T	A	3: 146,175,652		probably benign	Het
Myo9b	G	T	8: 71,359,342	R1926L	probably damaging	Het
Rrp12	A	G	19: 41,865,202	V1251A	probably benign	Het
Rtn4rl1	A	G	11: 75,265,342	D200G	probably damaging	Het
Sbsn	G	A	7: 30,752,357	A266T	possibly damaging	Het
Sgca	A	T	11: 94,963,378	C335*	probably null	Het
Spag1	T	C	15: 36,233,199		probably benign	Het
Sult6b1	A	T	17: 78,905,576	V82D	probably benign	Het
Tigit	T	C	16: 43,659,522	T137A	probably benign	Het
Tmem125	G	A	4: 118,541,623	Q204*	probably null	Het
Tmem59l	C	T	8: 70,486,098	R111Q	probably benign	Het
Vmn2r95	G	A	17: 18,443,862	G448R	probably damaging	Het
Zfp64	T	C	2: 168,951,679	H49R	probably damaging	Het

Other mutations in Amn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02397:Amn	APN	12	111274479	missense	possibly damaging	0.77
IGL02962:Amn	APN	12	111274517	missense	probably damaging	1.00
IGL02974:Amn	APN	12	111271141	missense	probably benign	0.01
IGL02837:Amn	UTSW	12	111271899	missense	possibly damaging	0.74
R0357:Amn	UTSW	12	111274141	critical splice acceptor site	probably null
R1986:Amn	UTSW	12	111274997	missense	probably damaging	1.00
R1993:Amn	UTSW	12	111276092	missense	probably damaging	1.00
R2355:Amn	UTSW	12	111271812	missense	probably damaging	0.99
R3924:Amn	UTSW	12	111275680	missense	possibly damaging	0.71
R3925:Amn	UTSW	12	111275680	missense	possibly damaging	0.71
R4364:Amn	UTSW	12	111271762	missense	probably damaging	0.99
R4687:Amn	UTSW	12	111276068	missense	probably benign	0.35
R6176:Amn	UTSW	12	111274156	missense	possibly damaging	0.55
R6209:Amn	UTSW	12	111275411	missense	probably damaging	0.99
R6300:Amn	UTSW	12	111274189	missense	probably benign	0.16
R6591:Amn	UTSW	12	111275397	missense	possibly damaging	0.77
R6691:Amn	UTSW	12	111275397	missense	possibly damaging	0.77
R8475:Amn	UTSW	12	111275385	missense	probably benign	0.02
R8747:Amn	UTSW	12	111275006	missense	probably damaging	1.00
R9262:Amn	UTSW	12	111271151	nonsense	probably null
X0025:Amn	UTSW	12	111275399	missense	probably damaging	1.00
Z1088:Amn	UTSW	12	111275683	missense	probably benign	0.28

Posted On

2013-11-18