Mutagenetix > Incidental Mutation

Incidental Mutation 'R6490:Axin1'

522827

Institutional Source

Beutler Lab

Gene Symbol

Axin1

Ensembl Gene

ENSMUSG00000024182

Gene Name

axin 1

Synonyms

MMRRC Submission

044622-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6490 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26357662-26414785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26361968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 104 (I104N)

Ref Sequence

ENSEMBL: ENSMUSP00000132000 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074370
AA Change: I104N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182
AA Change: I104N

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: I104N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182
AA Change: I104N

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 damaging
Transcript: ENSMUST00000163421
AA Change: I104N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182
AA Change: I104N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	T	G	8: 122,267,293 (GRCm39)	K38T	probably benign	Het
Abca13	A	G	11: 9,248,661 (GRCm39)	T2803A	probably benign	Het
Adam23	A	G	1: 63,596,613 (GRCm39)	D565G	probably damaging	Het
Adcy3	A	G	12: 4,262,150 (GRCm39)	T1067A	probably damaging	Het
Agrn	A	T	4: 156,251,819 (GRCm39)	Y1921*	probably null	Het
Apc2	A	G	10: 80,149,757 (GRCm39)	N1604D	probably benign	Het
Atxn7	A	T	14: 14,089,446 (GRCm38)	R321*	probably null	Het
Bahd1	T	C	2: 118,747,619 (GRCm39)	S413P	probably benign	Het
Baz2b	C	T	2: 59,732,073 (GRCm39)	C2024Y	probably damaging	Het
Cacna1i	T	A	15: 80,262,448 (GRCm39)	V1388E	probably damaging	Het
Ces4a	G	A	8: 105,876,090 (GRCm39)	V544M	probably benign	Het
Cntn3	G	A	6: 102,255,301 (GRCm39)	T199I	probably damaging	Het
Col6a4	A	T	9: 105,952,191 (GRCm39)	L569*	probably null	Het
Ctnna2	A	G	6: 77,120,892 (GRCm39)	I12T	probably benign	Het
Dhx37	A	G	5: 125,496,196 (GRCm39)	M754T	probably benign	Het
Dmrt1	T	A	19: 25,523,395 (GRCm39)	S249T	possibly damaging	Het
Ell	G	T	8: 71,025,553 (GRCm39)	S59I	probably damaging	Het
Fam89a	G	A	8: 125,467,982 (GRCm39)	S110F	probably damaging	Het
Fer1l4	A	C	2: 155,889,834 (GRCm39)	F278V	possibly damaging	Het
Fyn	T	C	10: 39,427,398 (GRCm39)	I427T	probably damaging	Het
Galnt14	T	C	17: 73,832,365 (GRCm39)	D250G	probably damaging	Het
Glp1r	T	C	17: 31,143,546 (GRCm39)	V194A	probably damaging	Het
Glt1d1	T	A	5: 127,721,360 (GRCm39)		probably null	Het
Gm7995	A	G	14: 42,133,327 (GRCm39)	K69R	probably benign	Het
Grip1	A	G	10: 119,822,329 (GRCm39)	T379A	possibly damaging	Het
Gtpbp2	G	T	17: 46,479,147 (GRCm39)	A570S	probably benign	Het
Hmcn1	T	C	1: 150,459,029 (GRCm39)	I5192V	probably benign	Het
Igfl3	A	T	7: 17,913,844 (GRCm39)	I65F	possibly damaging	Het
Igsf10	G	T	3: 59,236,992 (GRCm39)	T1063K	probably benign	Het
Itfg1	A	G	8: 86,466,930 (GRCm39)	V381A	probably benign	Het
Itprid1	A	G	6: 55,953,405 (GRCm39)	D907G	probably damaging	Het
Jmjd8	T	A	17: 26,048,086 (GRCm39)	V16E	probably benign	Het
Kank1	A	G	19: 25,387,449 (GRCm39)	Y374C	probably damaging	Het
Kcnma1	C	T	14: 23,386,165 (GRCm39)	V891I	possibly damaging	Het
Kif20a	C	A	18: 34,762,543 (GRCm39)	T472K	possibly damaging	Het
Klhl32	A	T	4: 24,711,578 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,347,486 (GRCm39)	S3070P	unknown	Het
Mettl21e	T	G	1: 44,249,425 (GRCm39)	Y77S	probably damaging	Het
Mlst8	G	T	17: 24,696,935 (GRCm39)	D82E	probably benign	Het
Mrgprx2	A	T	7: 48,132,617 (GRCm39)	L67Q	probably damaging	Het
Mylk	T	A	16: 34,750,237 (GRCm39)	L1192Q	possibly damaging	Het
Myt1l	A	T	12: 29,882,365 (GRCm39)	Y520F	unknown	Het
Naip2	A	T	13: 100,297,193 (GRCm39)	W948R	probably benign	Het
Nlrp9a	A	C	7: 26,250,311 (GRCm39)	K25N	probably damaging	Het
Nsd3	T	C	8: 26,204,212 (GRCm39)	C414R	probably damaging	Het
Oit3	A	T	10: 59,274,374 (GRCm39)	V142D	possibly damaging	Het
Or2aj6	C	T	16: 19,443,194 (GRCm39)	V219M	probably benign	Het
P2ry6	T	C	7: 100,587,580 (GRCm39)	T260A	probably damaging	Het
Papola	A	G	12: 105,771,196 (GRCm39)	Q87R	probably benign	Het
Pla2g4a	T	A	1: 149,727,086 (GRCm39)	R557*	probably null	Het
Rgs13	G	T	1: 144,016,576 (GRCm39)	H56N	probably damaging	Het
Sbf1	T	C	15: 89,189,111 (GRCm39)	S537G	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Spata31h1	A	T	10: 82,125,138 (GRCm39)	L2624Q	possibly damaging	Het
Stam2	T	C	2: 52,610,954 (GRCm39)	T23A	probably benign	Het
Tbl1xr1	C	A	3: 22,258,141 (GRCm39)	H467Q	probably damaging	Het
Tmem131l	A	G	3: 83,820,587 (GRCm39)	S1222P	possibly damaging	Het
Tmem43	G	T	6: 91,455,759 (GRCm39)	Q123H	probably damaging	Het
Tmem43	T	A	6: 91,463,862 (GRCm39)	I379N	possibly damaging	Het
Trim43c	A	T	9: 88,727,003 (GRCm39)	I277F	possibly damaging	Het
Ttn	A	G	2: 76,703,211 (GRCm39)		probably benign	Het
Vmn1r75	T	A	7: 11,615,003 (GRCm39)	V245D	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vps53	A	T	11: 75,967,881 (GRCm39)	M414K	probably benign	Het
Wrn	T	G	8: 33,809,248 (GRCm39)	L249F	probably benign	Het
Zc3h13	TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT	TGATGTCCGGGATGTCCGGGATGTCCGGGATGT	14: 75,560,998 (GRCm39)		probably benign	Het
Zfp454	T	C	11: 50,764,950 (GRCm39)	N161D	probably benign	Het
Zfp619	G	A	7: 39,183,586 (GRCm39)	G60R	probably benign	Het
Zfp623	T	A	15: 75,820,308 (GRCm39)	H421Q	probably damaging	Het
Zfp827	A	G	8: 79,916,606 (GRCm39)		probably benign	Het

Other mutations in Axin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Axin1	APN	17	26,361,779 (GRCm39)	missense	possibly damaging	0.88
IGL00229:Axin1	APN	17	26,413,046 (GRCm39)	missense	probably damaging	1.00
IGL01141:Axin1	APN	17	26,409,015 (GRCm39)	missense	probably damaging	0.98
IGL02088:Axin1	APN	17	26,407,669 (GRCm39)	missense	probably benign	0.05
IGL02413:Axin1	APN	17	26,407,153 (GRCm39)	missense	probably benign	0.00
Salvation	UTSW	17	26,362,214 (GRCm39)	missense	probably damaging	0.98
R0331:Axin1	UTSW	17	26,362,081 (GRCm39)	missense	probably damaging	1.00
R0454:Axin1	UTSW	17	26,392,637 (GRCm39)	missense	probably benign	0.00
R0538:Axin1	UTSW	17	26,403,215 (GRCm39)	missense	possibly damaging	0.66
R0755:Axin1	UTSW	17	26,401,480 (GRCm39)	missense	possibly damaging	0.95
R0976:Axin1	UTSW	17	26,407,060 (GRCm39)	missense	probably damaging	1.00
R1634:Axin1	UTSW	17	26,406,965 (GRCm39)	missense	probably damaging	0.99
R1950:Axin1	UTSW	17	26,412,938 (GRCm39)	missense	possibly damaging	0.62
R1965:Axin1	UTSW	17	26,409,202 (GRCm39)	missense	probably damaging	0.97
R1965:Axin1	UTSW	17	26,403,199 (GRCm39)	missense	probably damaging	1.00
R2180:Axin1	UTSW	17	26,362,309 (GRCm39)	missense	probably benign
R3051:Axin1	UTSW	17	26,409,099 (GRCm39)	missense	probably benign	0.01
R3413:Axin1	UTSW	17	26,407,012 (GRCm39)	missense	probably damaging	0.99
R3849:Axin1	UTSW	17	26,406,771 (GRCm39)	missense	probably benign	0.01
R4530:Axin1	UTSW	17	26,407,146 (GRCm39)	missense	probably benign	0.09
R4560:Axin1	UTSW	17	26,392,745 (GRCm39)	missense	probably damaging	1.00
R4764:Axin1	UTSW	17	26,392,730 (GRCm39)	missense	possibly damaging	0.46
R4976:Axin1	UTSW	17	26,413,045 (GRCm39)	missense	probably benign	0.24
R4976:Axin1	UTSW	17	26,413,044 (GRCm39)	missense	probably benign	0.42
R5299:Axin1	UTSW	17	26,392,708 (GRCm39)	missense	probably damaging	0.99
R5682:Axin1	UTSW	17	26,406,775 (GRCm39)	missense	probably benign
R5690:Axin1	UTSW	17	26,413,911 (GRCm39)	missense	probably damaging	1.00
R5722:Axin1	UTSW	17	26,401,531 (GRCm39)	missense	probably damaging	1.00
R5793:Axin1	UTSW	17	26,362,282 (GRCm39)	missense	probably damaging	1.00
R6108:Axin1	UTSW	17	26,362,214 (GRCm39)	missense	probably damaging	0.98
R6282:Axin1	UTSW	17	26,362,011 (GRCm39)	missense	probably damaging	1.00
R7153:Axin1	UTSW	17	26,406,942 (GRCm39)	missense	probably benign
R7181:Axin1	UTSW	17	26,392,752 (GRCm39)	missense	probably damaging	1.00
R7456:Axin1	UTSW	17	26,362,139 (GRCm39)	missense	probably damaging	1.00
R8863:Axin1	UTSW	17	26,362,375 (GRCm39)	missense	probably benign
R8964:Axin1	UTSW	17	26,361,718 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACAGTTTCTGTTCTGGG -3'
(R):5'- GCTGCTTCATGACACAGTCC -3'

Sequencing Primer
(F):5'- CACAGTTTCTGTTCTGGGAAAGGTAC -3'
(R):5'- TTGTCTGGACACAATGCCATTG -3'

Posted On

2018-06-06