Mutagenetix > Incidental Mutation

Incidental Mutation 'R4687:Amn'

353782

Institutional Source

Beutler Lab

Gene Symbol

Amn

Ensembl Gene

ENSMUSG00000021278

Gene Name

amnionless

Synonyms

5033428N14Rik

MMRRC Submission

041938-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111237530-111242860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111242502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 439 (D439V)

Ref Sequence

ENSEMBL: ENSMUSP00000021707 (fasta)

Gene Model

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

AlphaFold

Q99JB7

Predicted Effect

probably benign
Transcript: ENSMUST00000021707
AA Change: D439V

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021707
Gene: ENSMUSG00000021278
AA Change: D439V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,210,985 (GRCm39)	Y45N	probably damaging	Het
Agbl3	T	C	6: 34,775,261 (GRCm39)	V189A	probably damaging	Het
Akip1	C	A	7: 109,304,193 (GRCm39)	S90*	probably null	Het
Arhgap17	T	A	7: 122,920,826 (GRCm39)	D149V	probably damaging	Het
Atp6v0a4	A	T	6: 38,069,400 (GRCm39)	I76N	possibly damaging	Het
Atp6v1h	A	T	1: 5,203,308 (GRCm39)	N291I	probably damaging	Het
Baiap2l2	G	T	15: 79,143,453 (GRCm39)	P462T	probably damaging	Het
Bves	C	T	10: 45,230,936 (GRCm39)		probably null	Het
Cabp7	T	A	11: 4,689,265 (GRCm39)	K127*	probably null	Het
Cacna1h	A	G	17: 25,612,884 (GRCm39)	V313A	possibly damaging	Het
Camkk2	T	C	5: 122,891,787 (GRCm39)	H245R	probably damaging	Het
Celsr1	T	A	15: 85,816,661 (GRCm39)	S1761C	possibly damaging	Het
Cfap46	T	C	7: 139,207,372 (GRCm39)	E1849G	possibly damaging	Het
Ciz1	T	C	2: 32,257,477 (GRCm39)	L174P	probably damaging	Het
Crim1	G	T	17: 78,610,454 (GRCm39)	C303F	probably damaging	Het
Cyp26c1	A	G	19: 37,681,385 (GRCm39)	Q396R	probably damaging	Het
Dnajc7	G	A	11: 100,490,126 (GRCm39)	P43L	probably damaging	Het
Dpf2	T	C	19: 5,957,040 (GRCm39)	H16R	probably damaging	Het
Dsp	A	G	13: 38,375,595 (GRCm39)	T1127A	probably damaging	Het
Dst	T	C	1: 34,240,204 (GRCm39)	L1525P	probably damaging	Het
Ehf	T	A	2: 103,097,471 (GRCm39)	D192V	probably damaging	Het
Frem1	G	T	4: 82,938,868 (GRCm39)	N71K	probably damaging	Het
Furin	T	A	7: 80,043,195 (GRCm39)	T339S	probably benign	Het
Gad1	T	A	2: 70,431,064 (GRCm39)	I569N	possibly damaging	Het
Gfi1	T	C	5: 107,871,676 (GRCm39)	K10R	probably damaging	Het
Gm20775	T	A	Y: 10,641,258 (GRCm39)		noncoding transcript	Homo
Gpn3	A	C	5: 122,516,638 (GRCm39)	D89A	possibly damaging	Het
Gpr18	T	A	14: 122,149,090 (GRCm39)	R312*	probably null	Het
Gsap	T	C	5: 21,451,969 (GRCm39)		probably benign	Het
H2-Ab1	C	A	17: 34,483,783 (GRCm39)	T48K	probably damaging	Het
Hmcn2	A	T	2: 31,328,297 (GRCm39)	N4326I	probably benign	Het
Igkv4-51	A	C	6: 69,658,714 (GRCm39)		probably benign	Het
Insr	T	C	8: 3,211,709 (GRCm39)	H1104R	probably benign	Het
Ipo13	A	T	4: 117,758,773 (GRCm39)	N697K	probably benign	Het
Iqcm	T	G	8: 76,489,617 (GRCm39)	F362V	probably damaging	Het
Irak4	T	C	15: 94,464,704 (GRCm39)	S425P	probably damaging	Het
Jakmip2	T	C	18: 43,710,477 (GRCm39)	E242G	possibly damaging	Het
Kdm4a	T	C	4: 118,001,280 (GRCm39)	K829R	probably damaging	Het
Kdr	T	C	5: 76,129,452 (GRCm39)	N145S	possibly damaging	Het
Klra9	A	T	6: 130,162,480 (GRCm39)	D185E	probably benign	Het
Lcn12	T	C	2: 25,383,333 (GRCm39)	N15S	probably benign	Het
Mei4	T	A	9: 81,809,370 (GRCm39)	M151K	probably damaging	Het
Mmp3	T	A	9: 7,451,223 (GRCm39)	S320T	probably benign	Het
Mrps5	C	G	2: 127,432,690 (GRCm39)	A37G	probably benign	Het
Mttp	A	G	3: 137,798,496 (GRCm39)	I800T	possibly damaging	Het
Nags	A	T	11: 102,039,022 (GRCm39)	Q451L	probably damaging	Het
Nbea	T	C	3: 55,965,486 (GRCm39)	T476A	probably damaging	Het
Ndufb10	T	C	17: 24,941,393 (GRCm39)	E145G	possibly damaging	Het
Neb	T	G	2: 52,194,047 (GRCm39)	S660R	possibly damaging	Het
Nppb	A	G	4: 148,070,753 (GRCm39)	K43E	probably benign	Het
Nup188	A	T	2: 30,220,645 (GRCm39)	Q906L	probably benign	Het
Or10k2	T	A	8: 84,268,489 (GRCm39)	S239T	probably damaging	Het
Or4c12	T	C	2: 89,774,213 (GRCm39)	D82G	probably damaging	Het
Or8c17	C	A	9: 38,180,710 (GRCm39)	N292K	probably damaging	Het
Or9s23	T	C	1: 92,501,052 (GRCm39)	I53T	possibly damaging	Het
Ovch2	T	A	7: 107,395,755 (GRCm39)	I88F	possibly damaging	Het
Palm3	A	G	8: 84,756,564 (GRCm39)	E692G	probably benign	Het
Pcsk6	T	C	7: 65,633,501 (GRCm39)	F578L	probably damaging	Het
Piezo2	A	C	18: 63,203,034 (GRCm39)	D1535E	probably damaging	Het
Ppp1r15b	T	C	1: 133,059,873 (GRCm39)	V130A	probably benign	Het
Proca1	T	C	11: 78,095,724 (GRCm39)	Y32H	probably damaging	Het
Prtg	T	A	9: 72,798,080 (GRCm39)	V682E	probably damaging	Het
Pyroxd1	A	T	6: 142,307,594 (GRCm39)	M455L	probably benign	Het
Rasa1	T	C	13: 85,374,754 (GRCm39)	D739G	possibly damaging	Het
Scn3a	T	C	2: 65,295,074 (GRCm39)	I1550V	possibly damaging	Het
Sepsecs	T	C	5: 52,801,213 (GRCm39)	D483G	probably benign	Het
Setd7	T	C	3: 51,457,776 (GRCm39)	D17G	probably damaging	Het
Sipa1l2	C	T	8: 126,217,984 (GRCm39)	C451Y	probably damaging	Het
Slc31a1	A	G	4: 62,306,939 (GRCm39)	Y165C	probably damaging	Het
Smg5	T	C	3: 88,249,776 (GRCm39)	F68L	possibly damaging	Het
Sptbn5	A	G	2: 119,907,689 (GRCm39)		probably benign	Het
Stk3	A	G	15: 35,114,711 (GRCm39)	I65T	probably damaging	Het
Tas2r115	C	T	6: 132,714,247 (GRCm39)	A235T	possibly damaging	Het
Tenm2	C	T	11: 35,939,924 (GRCm39)	A1400T	probably benign	Het
Tet1	T	A	10: 62,674,570 (GRCm39)	N1169Y	probably benign	Het
Treml2	T	A	17: 48,616,425 (GRCm39)		probably null	Het
Tspan11	A	G	6: 127,915,198 (GRCm39)	E104G	probably damaging	Het
Wdtc1	G	A	4: 133,023,742 (GRCm39)	A543V	probably damaging	Het
Zfp148	T	A	16: 33,317,189 (GRCm39)	D578E	probably damaging	Het
Zfp735	A	T	11: 73,602,682 (GRCm39)	N542I	probably damaging	Het
Zfp735	A	T	11: 73,602,681 (GRCm39)	N542Y	probably damaging	Het
Zfp869	T	A	8: 70,160,793 (GRCm39)	E65D	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
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
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'- GGGTTTCCGAAATCCGATTTTC -3'
(R):5'- GGTTACAAGTAGGACCAGGCTATC -3'

Sequencing Primer
(F):5'- GAAATCCGATTTTCGACGCG -3'
(R):5'- AAACAAACAAGCAACTCTTTATTGGG -3'

Posted On

2015-10-21