Mutagenetix > Incidental Mutation

Incidental Mutation 'R9262:Amn'

702338

Institutional Source

Beutler Lab

Gene Symbol

Amn

Ensembl Gene

ENSMUSG00000021278

Gene Name

amnionless

Synonyms

5033428N14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111237530-111242860 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 111237585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 10 (W10*)

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 null
Transcript: ENSMUST00000021707
AA Change: W10*

SMART Domains

Protein: ENSMUSP00000021707
Gene: ENSMUSG00000021278
AA Change: W10*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (73/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,443,375 (GRCm39)	H192L	unknown	Het
Abca4	T	A	3: 121,964,639 (GRCm39)	C2149S	probably damaging	Het
Abl2	G	A	1: 156,469,820 (GRCm39)	G1028D	possibly damaging	Het
Adgre1	A	G	17: 57,754,941 (GRCm39)	T680A	probably damaging	Het
Ankhd1	G	T	18: 36,765,799 (GRCm39)	V140F		Het
Asnsd1	A	T	1: 53,383,934 (GRCm39)	N613K	probably benign	Het
Bbs2	A	T	8: 94,807,543 (GRCm39)	I417N	probably damaging	Het
Cad	T	A	5: 31,225,009 (GRCm39)	W971R	probably null	Het
Cand2	A	T	6: 115,759,730 (GRCm39)	I134F	probably benign	Het
Ccdc154	C	A	17: 25,389,160 (GRCm39)	H453N	probably damaging	Het
Ccdc168	A	G	1: 44,096,269 (GRCm39)	S1610P	possibly damaging	Het
Ccdc7a	T	A	8: 129,486,277 (GRCm39)	H1601L	possibly damaging	Het
Ccdc9	A	C	7: 16,012,400 (GRCm39)	S261A	probably benign	Het
Cdkl3	T	A	11: 51,916,702 (GRCm39)	S277T	probably benign	Het
Cipc	T	A	12: 86,999,497 (GRCm39)	Y8*	probably null	Het
Cramp1	A	G	17: 25,232,920 (GRCm39)	S27P	probably damaging	Het
Csf1r	A	T	18: 61,243,406 (GRCm39)	M141L	probably benign	Het
Csf2rb2	G	T	15: 78,168,535 (GRCm39)	F873L	probably damaging	Het
Dchs1	G	A	7: 105,404,833 (GRCm39)	R2570W	probably damaging	Het
Dmxl1	A	T	18: 49,976,919 (GRCm39)	N94Y	probably benign	Het
Dnajc10	A	G	2: 80,176,965 (GRCm39)	K640R	probably benign	Het
Epha8	A	C	4: 136,658,995 (GRCm39)	H886Q	probably benign	Het
Fcgbp	G	C	7: 27,819,952 (GRCm39)	D2560H	probably damaging	Het
Fry	T	G	5: 150,305,109 (GRCm39)	F605V	probably damaging	Het
Fsip2	A	G	2: 82,807,662 (GRCm39)	N1327S	probably benign	Het
Gm12117	T	C	11: 33,226,001 (GRCm39)	T112A	probably benign	Het
Gm3604	A	T	13: 62,517,697 (GRCm39)	N220K	probably damaging	Het
Gm572	T	C	4: 148,735,652 (GRCm39)	V27A	probably benign	Het
Gpr39	A	G	1: 125,800,524 (GRCm39)	K425R	probably benign	Het
Heatr3	A	G	8: 88,883,097 (GRCm39)	D349G	probably benign	Het
Hip1	A	G	5: 135,478,541 (GRCm39)	S248P	probably damaging	Het
Itga11	A	G	9: 62,659,678 (GRCm39)		probably benign	Het
Itga3	C	T	11: 94,956,625 (GRCm39)	V210I	probably benign	Het
Jmjd1c	T	C	10: 67,083,793 (GRCm39)	I2173T	probably benign	Het
Klf13	G	A	7: 63,574,456 (GRCm39)	Q21*	probably null	Het
Kmt2a	A	T	9: 44,731,222 (GRCm39)	S3032T	probably benign	Het
Krt34	T	C	11: 99,930,851 (GRCm39)	R184G	probably benign	Het
Krtap16-1	T	C	11: 99,876,994 (GRCm39)	T137A	probably benign	Het
Ldc1	A	G	4: 130,114,153 (GRCm39)	V88A	possibly damaging	Het
Mgam	T	C	6: 40,723,422 (GRCm39)		probably null	Het
Mog	T	C	17: 37,325,648 (GRCm39)	T196A	possibly damaging	Het
Ms4a6d	T	C	19: 11,579,216 (GRCm39)	Y87C	possibly damaging	Het
Ndrg4	C	T	8: 96,435,812 (GRCm39)		probably benign	Het
Nsd1	T	A	13: 55,394,871 (GRCm39)	M927K	possibly damaging	Het
Or11l3	T	A	11: 58,516,282 (GRCm39)	M197L	probably benign	Het
Or4a73	G	T	2: 89,421,435 (GRCm39)	T8K	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pcdhac2	A	G	18: 37,279,095 (GRCm39)	R692G	possibly damaging	Het
Pcsk4	T	A	10: 80,160,864 (GRCm39)	S321C	probably damaging	Het
Pi4ka	A	G	16: 17,120,859 (GRCm39)	F1292L		Het
Pigv	G	T	4: 133,397,110 (GRCm39)	P6Q	possibly damaging	Het
Pkhd1	A	C	1: 20,618,351 (GRCm39)	S927A	probably benign	Het
Pnpla3	A	T	15: 84,055,363 (GRCm39)	I90F	probably benign	Het
Pole	C	A	5: 110,473,422 (GRCm39)	L1739I	probably damaging	Het
Pole	T	A	5: 110,473,423 (GRCm39)	L1739H	probably damaging	Het
Rbm12	A	T	2: 155,939,317 (GRCm39)	N318K	possibly damaging	Het
Rpl18a	A	T	8: 71,348,179 (GRCm39)	L168Q	probably benign	Het
Ryr2	T	C	13: 11,765,854 (GRCm39)	N1294S	probably damaging	Het
Sema5b	T	C	16: 35,453,223 (GRCm39)	L98P	possibly damaging	Het
Slco1a8	G	T	6: 141,926,594 (GRCm39)	F597L	probably damaging	Het
Smg7	A	G	1: 152,721,262 (GRCm39)	V650A	probably damaging	Het
Spata31d1e	T	C	13: 59,890,402 (GRCm39)	M473V	probably benign	Het
Strada	C	T	11: 106,075,444 (GRCm39)	R13Q	probably damaging	Het
Sun1	T	C	5: 139,200,918 (GRCm39)	S37P	unknown	Het
Syce1l	T	C	8: 114,380,738 (GRCm39)		probably null	Het
Tdg	T	A	10: 82,480,507 (GRCm39)	F263L	probably damaging	Het
Tead3	G	T	17: 28,560,495 (GRCm39)	S36R	probably benign	Het
Timm44	A	G	8: 4,310,621 (GRCm39)	L377P	probably damaging	Het
Tk1	C	T	11: 117,716,581 (GRCm39)	V9M	probably benign	Het
Trim36	A	G	18: 46,300,506 (GRCm39)	Y722H	probably benign	Het
Ttn	A	T	2: 76,640,232 (GRCm39)	M13792K	possibly damaging	Het
Unc80	A	G	1: 66,594,411 (GRCm39)		probably benign	Het
Usp46	G	T	5: 74,189,965 (GRCm39)	A133E	probably benign	Het
Wnk2	T	A	13: 49,221,430 (GRCm39)	R1240S	probably benign	Het
Zfp821	G	A	8: 110,450,982 (GRCm39)	R325Q	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
R8747:Amn	UTSW	12	111,241,440 (GRCm39)	missense	probably damaging	1.00
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'- CCTAAAGGGCAGATGCTAAAGC -3'
(R):5'- AATAGGCTGCGGTTTCTCC -3'

Sequencing Primer
(F):5'- CGCTGAGAAGATTCCTCCAAGG -3'
(R):5'- CACTTCCTGGGCTTTGGAAAC -3'

Posted On

2022-03-25