Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Axin1'

2081

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Axin1

Ensembl Gene

ENSMUSG00000024182

Gene Name

axin 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

26138688-26195811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26194072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 780 (F780L)

Ref Sequence

ENSEMBL: ENSMUSP00000132000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039113] [ENSMUST00000074370] [ENSMUST00000118904] [ENSMUST00000120333] [ENSMUST00000163421] [ENSMUST00000176961]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039113

SMART Domains

Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	46	153	1.5e-26	PFAM
Pfam:Thioredoxin_6	182	369	3.2e-37	PFAM
Pfam:Thioredoxin	392	497	2.4e-27	PFAM
low complexity region	501	515	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000074370
AA Change: F816L

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

SMART Domains

Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182
AA Change: F816L

Domain	Start	End	E-Value	Type
Pfam:AXIN1_TNKS_BD	13	85	7.5e-27	PFAM
RGS	93	216	3.03e-36	SMART
low complexity region	230	241	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
coiled coil region	394	432	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	468	523	3.2e-13	PFAM
low complexity region	533	544	N/A	INTRINSIC
low complexity region	699	709	N/A	INTRINSIC
low complexity region	713	727	N/A	INTRINSIC
DAX	786	868	5.92e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000118904
AA Change: F780L

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

SMART Domains

Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182
AA Change: F780L

Domain	Start	End	E-Value	Type
RGS	93	216	3.03e-36	SMART
low complexity region	230	241	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
coiled coil region	394	432	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	468	502	1.2e-18	PFAM
low complexity region	533	544	N/A	INTRINSIC
low complexity region	699	709	N/A	INTRINSIC
coiled coil region	712	734	N/A	INTRINSIC
DAX	750	832	5.92e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120333

SMART Domains

Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	46	153	2.6e-27	PFAM
Pfam:Thioredoxin_6	181	366	2e-37	PFAM
Pfam:Thioredoxin	389	494	7.2e-28	PFAM
low complexity region	498	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142410

SMART Domains

Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	38	145	3.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148134

SMART Domains

Protein: ENSMUSP00000116340
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	19	124	2e-28	PFAM
low complexity region	128	142	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163421
AA Change: F780L

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

SMART Domains

Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182
AA Change: F780L

Domain	Start	End	E-Value	Type
RGS	93	216	3.03e-36	SMART
low complexity region	230	241	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
coiled coil region	394	432	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	468	502	1.2e-18	PFAM
low complexity region	533	544	N/A	INTRINSIC
low complexity region	699	709	N/A	INTRINSIC
coiled coil region	712	734	N/A	INTRINSIC
DAX	750	832	5.92e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176961

SMART Domains

Protein: ENSMUSP00000135717
Gene: ENSMUSG00000073433

Domain	Start	End	E-Value	Type
Pfam:Rho_GDI	14	222	1.9e-83	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mutant homozygotes die at embryonic day 8-10, exhibiting neuroectodermal defects and axial duplications. Heterozygotes exhibit skeletal, cardiac, and neurological defects including short, bent tails, and deafness with circling behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Axin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Axin1	APN	17	26142805	missense	possibly damaging	0.88
IGL01141:Axin1	APN	17	26190041	missense	probably damaging	0.98
IGL02088:Axin1	APN	17	26188695	missense	probably benign	0.05
IGL02413:Axin1	APN	17	26188179	missense	probably benign	0.00
Salvation	UTSW	17	26143240	missense	probably damaging	0.98
R0331:Axin1	UTSW	17	26143107	missense	probably damaging	1.00
R0454:Axin1	UTSW	17	26173663	missense	probably benign	0.00
R0538:Axin1	UTSW	17	26184241	missense	possibly damaging	0.66
R0755:Axin1	UTSW	17	26182506	missense	possibly damaging	0.95
R0976:Axin1	UTSW	17	26188086	missense	probably damaging	1.00
R1634:Axin1	UTSW	17	26187991	missense	probably damaging	0.99
R1950:Axin1	UTSW	17	26193964	missense	possibly damaging	0.62
R1965:Axin1	UTSW	17	26184225	missense	probably damaging	1.00
R1965:Axin1	UTSW	17	26190228	missense	probably damaging	0.97
R2180:Axin1	UTSW	17	26143335	missense	probably benign
R3051:Axin1	UTSW	17	26190125	missense	probably benign	0.01
R3413:Axin1	UTSW	17	26188038	missense	probably damaging	0.99
R3849:Axin1	UTSW	17	26187797	missense	probably benign	0.01
R4530:Axin1	UTSW	17	26188172	missense	probably benign	0.09
R4560:Axin1	UTSW	17	26173771	missense	probably damaging	1.00
R4764:Axin1	UTSW	17	26173756	missense	possibly damaging	0.46
R4976:Axin1	UTSW	17	26194070	missense	probably benign	0.42
R4976:Axin1	UTSW	17	26194071	missense	probably benign	0.24
R5299:Axin1	UTSW	17	26173734	missense	probably damaging	0.99
R5682:Axin1	UTSW	17	26187801	missense	probably benign
R5690:Axin1	UTSW	17	26194937	missense	probably damaging	1.00
R5722:Axin1	UTSW	17	26182557	missense	probably damaging	1.00
R5793:Axin1	UTSW	17	26143308	missense	probably damaging	1.00
R6108:Axin1	UTSW	17	26143240	missense	probably damaging	0.98
R6282:Axin1	UTSW	17	26143037	missense	probably damaging	1.00
R6490:Axin1	UTSW	17	26142994	missense	probably damaging	1.00
R7153:Axin1	UTSW	17	26187968	missense	probably benign
R7181:Axin1	UTSW	17	26173778	missense	probably damaging	1.00
R7456:Axin1	UTSW	17	26143165	missense	probably damaging	1.00
R8863:Axin1	UTSW	17	26143401	missense	probably benign
R8964:Axin1	UTSW	17	26142744	missense	probably damaging	1.00

Posted On

2011-12-09