Mutagenetix > Incidental Mutation

Incidental Mutation 'R8747:Amn'

663621

Institutional Source

Beutler Lab

Gene Symbol

Amn

Ensembl Gene

ENSMUSG00000021278

Gene Name

amnionless

Synonyms

5033428N14Rik

MMRRC Submission

068618-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111237530-111242860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111241440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 235 (P235H)

Ref Sequence

ENSEMBL: ENSMUSP00000021707 (fasta)

Gene Model

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

AlphaFold

Q99JB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021707
AA Change: P235H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021707
Gene: ENSMUSG00000021278
AA Change: P235H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,632,240 (GRCm39)	D190G	probably benign	Het
Abhd11	A	G	5: 135,040,760 (GRCm39)	I271V	possibly damaging	Het
Akap6	T	G	12: 53,188,999 (GRCm39)	S2138A	probably benign	Het
Arf2	A	T	11: 103,859,975 (GRCm39)	M18L	probably benign	Het
Asic2	A	T	11: 81,043,233 (GRCm39)	F20Y	possibly damaging	Het
Bok	T	C	1: 93,622,664 (GRCm39)		probably null	Het
Cachd1	T	A	4: 100,860,045 (GRCm39)		probably benign	Het
Casp8	A	G	1: 58,883,617 (GRCm39)	N308S	probably benign	Het
Cavin3	G	T	7: 105,131,154 (GRCm39)	H71Q	possibly damaging	Het
Ccdc87	A	G	19: 4,891,646 (GRCm39)	I713V	probably benign	Het
Clcn6	A	T	4: 148,093,354 (GRCm39)		probably null	Het
Cmas	T	C	6: 142,716,927 (GRCm39)	I273T	possibly damaging	Het
Ctxn3	A	T	18: 57,610,378 (GRCm39)	D65V	probably damaging	Het
D130040H23Rik	C	A	8: 69,755,705 (GRCm39)	N387K	probably benign	Het
Depp1	T	A	6: 116,629,122 (GRCm39)	L155Q	possibly damaging	Het
Dnah9	T	C	11: 65,818,816 (GRCm39)	K3174R	possibly damaging	Het
Ecpas	C	T	4: 58,828,632 (GRCm39)	V934I	probably damaging	Het
Efcab14	A	G	4: 115,603,793 (GRCm39)	N157S	probably damaging	Het
Ets1	G	A	9: 32,641,474 (GRCm39)	G109D	probably damaging	Het
Fbln5	G	A	12: 101,734,754 (GRCm39)	R173C	probably damaging	Het
Fchsd1	G	A	18: 38,096,035 (GRCm39)	P525L	probably benign	Het
Gmppa	G	A	1: 75,416,025 (GRCm39)	V156I	probably damaging	Het
Gtpbp1	A	G	15: 79,603,482 (GRCm39)	D182G		Het
Ift140	T	A	17: 25,254,809 (GRCm39)	S430T	probably benign	Het
Kat7	G	C	11: 95,185,392 (GRCm39)	C161W	probably damaging	Het
Lipk	T	A	19: 33,996,184 (GRCm39)	M32K	probably damaging	Het
Lum	A	T	10: 97,404,351 (GRCm39)	D82V	possibly damaging	Het
Macf1	C	A	4: 123,248,944 (GRCm39)	A7196S	probably damaging	Het
Mroh2b	T	A	15: 4,964,782 (GRCm39)	S926T	probably damaging	Het
Nbn	G	T	4: 15,981,555 (GRCm39)	R549I	probably damaging	Het
Nfu1	T	C	6: 86,996,400 (GRCm39)	I117T	probably damaging	Het
Or51f1	T	C	7: 102,506,139 (GRCm39)	T117A	probably benign	Het
Or7a39	A	G	10: 78,715,155 (GRCm39)	T50A	probably benign	Het
Parp1	T	C	1: 180,422,275 (GRCm39)	L778P	probably damaging	Het
Pbld2	G	T	10: 62,888,069 (GRCm39)	V125F	probably benign	Het
Prkag2	A	G	5: 25,085,680 (GRCm39)		probably null	Het
Prss54	A	G	8: 96,286,351 (GRCm39)	F241L	probably benign	Het
Rnf121	T	C	7: 101,678,316 (GRCm39)	D177G	probably damaging	Het
Slc12a7	G	A	13: 73,933,241 (GRCm39)	V100I	probably benign	Het
Slc28a1	C	T	7: 80,774,719 (GRCm39)	L189F	possibly damaging	Het
Slc35a3	T	C	3: 116,488,219 (GRCm39)	Q16R	probably damaging	Het
Snap91	A	G	9: 86,686,577 (GRCm39)	F354L	probably damaging	Het
Steap2	A	G	5: 5,723,539 (GRCm39)	I447T	probably benign	Het
Tagap	T	A	17: 8,147,602 (GRCm39)	I104N	probably damaging	Het
Tas1r2	A	G	4: 139,387,318 (GRCm39)	D259G	probably benign	Het
Tgm3	T	C	2: 129,886,452 (GRCm39)	S558P	probably benign	Het
Tuba3a	A	G	6: 125,258,018 (GRCm39)	V324A	probably damaging	Het
Vmn1r238	T	G	18: 3,123,232 (GRCm39)	I61L	possibly damaging	Het
Vmn1r52	A	G	6: 90,156,451 (GRCm39)	T252A	probably benign	Het
Vmp1	A	G	11: 86,492,885 (GRCm39)	V308A	probably damaging	Het
Wdfy4	A	C	14: 32,874,611 (GRCm39)	V159G		Het
Zfp180	A	G	7: 23,804,687 (GRCm39)	T369A	possibly damaging	Het
Zfp827	A	G	8: 79,755,316 (GRCm39)	M1V	probably null	Het
Zmym4	A	G	4: 126,787,198 (GRCm39)	I1031T	probably damaging	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
R0357:Amn	UTSW	12	111,240,575 (GRCm39)	critical splice acceptor site	probably null
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
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'- ACGAGGACCTGACTGCTTTC -3'
(R):5'- TCAACGACACGATAGCTCCTG -3'

Sequencing Primer
(F):5'- GTCCCAAGCTTGCACCGAC -3'
(R):5'- TGGGACAGGAGGACAGGTTAAC -3'

Posted On

2021-03-08