Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02088:Axin1'

279320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Axin1

Ensembl Gene

ENSMUSG00000024182

Gene Name

axin 1

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02088

Quality Score

Status

Chromosome

Chromosomal Location

26138688-26195811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26188695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 637 (I637V)

Ref Sequence

ENSEMBL: ENSMUSP00000073974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074370] [ENSMUST00000118904] [ENSMUST00000163421] [ENSMUST00000168282]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074370
AA Change: I637V

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182
AA Change: I637V

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 benign
Transcript: ENSMUST00000118904
AA Change: I637V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182
AA Change: I637V

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: ENSMUST00000163421
AA Change: I637V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182
AA Change: I637V

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: ENSMUST00000168282

SMART Domains

Protein: ENSMUSP00000127182
Gene: ENSMUSG00000024182

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
coiled coil region	126	154	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169268

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	T	C	9: 104,098,881	E289G	probably damaging	Het
Aldh1l1	A	T	6: 90,580,590		probably benign	Het
Ampd3	T	A	7: 110,793,686	D220E	probably benign	Het
Ank3	T	C	10: 69,999,373	V136A	probably damaging	Het
Atg14	T	C	14: 47,542,859	K486R	probably benign	Het
Axin2	T	A	11: 108,923,616	F110Y	probably damaging	Het
Cdh12	A	T	15: 21,480,339	K214*	probably null	Het
Cfap44	A	C	16: 44,451,628	E1248A	possibly damaging	Het
Cryba4	A	G	5: 112,251,009		probably benign	Het
Cyp2c68	A	G	19: 39,703,521		probably benign	Het
Dnah5	G	T	15: 28,459,118		probably null	Het
Dok3	A	T	13: 55,524,370	V165E	probably damaging	Het
Etl4	A	T	2: 20,806,548	R1147S	probably damaging	Het
Fam212a	A	G	9: 107,984,457	F220S	probably damaging	Het
Fbxl6	G	T	15: 76,535,906	C502*	probably null	Het
Gp2	A	T	7: 119,454,469	Y90N	probably damaging	Het
H1fnt	G	T	15: 98,257,178	T30K	probably damaging	Het
Itfg2	A	G	6: 128,411,606	V306A	probably benign	Het
Lrig2	T	C	3: 104,467,108	Y219C	probably damaging	Het
Mccc1	A	T	3: 35,974,202	I485N	probably damaging	Het
Mettl25	A	G	10: 105,823,250	F391L	probably damaging	Het
Muc19	C	T	15: 91,891,168		noncoding transcript	Het
Muc2	T	C	7: 141,751,504	C182R	probably damaging	Het
Nlrp4g	T	C	9: 124,350,453		noncoding transcript	Het
Nms	A	G	1: 38,939,277		probably benign	Het
Nr3c1	T	C	18: 39,424,391	N503S	probably damaging	Het
Olfr1495	T	C	19: 13,768,666	F108S	probably damaging	Het
Olfr186	A	G	16: 59,027,052	L285P	probably damaging	Het
Olfr828	C	T	9: 18,815,923	V124I	probably benign	Het
Pcdhb5	G	A	18: 37,321,959	S464N	probably benign	Het
Pcgf6	T	C	19: 47,050,804	T6A	unknown	Het
Rdx	A	G	9: 52,060,883		probably benign	Het
Shmt1	T	C	11: 60,789,653	T403A	probably damaging	Het
Slc35d1	A	G	4: 103,211,325	F148L	probably benign	Het
Tk1	A	G	11: 117,824,665		probably benign	Het
Tnks	T	A	8: 34,839,994	I1134F	possibly damaging	Het
Ttn	A	G	2: 76,726,691	V29990A	probably damaging	Het
Zcchc11	A	G	4: 108,512,218		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
IGL00229:Axin1	APN	17	26194072	missense	probably damaging	1.00
IGL01141:Axin1	APN	17	26190041	missense	probably damaging	0.98
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

2015-04-16