Mutagenetix > Incidental Mutation

Incidental Mutation 'R6784:Aida'

531542

Institutional Source

Beutler Lab

Gene Symbol

Aida

Ensembl Gene

ENSMUSG00000042901

Gene Name

axin interactor, dorsalization associated

Synonyms

2610208M17Rik

MMRRC Submission

044898-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

R6784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

183078604-183105356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 183103346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 275 (Y275C)

Ref Sequence

ENSEMBL: ENSMUSP00000104795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109158] [ENSMUST00000109166] [ENSMUST00000193625] [ENSMUST00000193959]

AlphaFold

Q8C4Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000069922

SMART Domains

Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SH3	48	106	2.78e-2	SMART
low complexity region	138	147	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC
low complexity region	389	407	N/A	INTRINSIC
low complexity region	767	774	N/A	INTRINSIC
coiled coil region	1240	1329	N/A	INTRINSIC
coiled coil region	1362	1427	N/A	INTRINSIC
low complexity region	1433	1446	N/A	INTRINSIC
coiled coil region	1517	1565	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109158

SMART Domains

Protein: ENSMUSP00000104786
Gene: ENSMUSG00000056050

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
SCOP:d1fxkc_	159	274	2e-4	SMART
low complexity region	281	294	N/A	INTRINSIC
SCOP:d1fxkc_	365	463	1e-3	SMART
low complexity region	482	498	N/A	INTRINSIC
low complexity region	557	567	N/A	INTRINSIC
low complexity region	609	626	N/A	INTRINSIC
low complexity region	635	661	N/A	INTRINSIC
low complexity region	665	680	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109166
AA Change: Y275C

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

SMART Domains

Protein: ENSMUSP00000104795
Gene: ENSMUSG00000042901
AA Change: Y275C

Domain	Start	End	E-Value	Type
Pfam:Aida_N	9	112	1.9e-43	PFAM
low complexity region	122	144	N/A	INTRINSIC
Pfam:Aida_C2	155	300	2.4e-68	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000193625
AA Change: Y193C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141649
Gene: ENSMUSG00000042901
AA Change: Y193C

Domain	Start	End	E-Value	Type
Pfam:Aida_N	8	113	2.3e-49	PFAM
low complexity region	122	144	N/A	INTRINSIC
Pfam:Aida_C2	145	219	6.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193959

Meta Mutation Damage Score

0.8869

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.2%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,093,895 (GRCm39)	S142N	probably null	Het
Arrdc4	A	G	7: 68,398,594 (GRCm39)	I74T	probably benign	Het
C1ql4	A	G	15: 98,985,290 (GRCm39)	V107A	probably benign	Het
Ccnh	T	C	13: 85,360,884 (GRCm39)	V284A	probably benign	Het
Cd180	A	G	13: 102,839,213 (GRCm39)	E32G	probably damaging	Het
Chd6	T	C	2: 160,808,174 (GRCm39)	D1680G	probably damaging	Het
Cog7	A	T	7: 121,563,516 (GRCm39)		probably null	Het
Cyp2j6	T	A	4: 96,423,741 (GRCm39)	Q209L	possibly damaging	Het
Dars1	A	T	1: 128,319,084 (GRCm39)	V116E	probably damaging	Het
Dnah10	A	G	5: 124,854,890 (GRCm39)	K1932E	probably damaging	Het
Dock9	A	G	14: 121,780,926 (GRCm39)	S2086P	probably damaging	Het
Espl1	C	G	15: 102,207,660 (GRCm39)	R375G	probably benign	Het
Fer1l6	C	T	15: 58,443,275 (GRCm39)	S526L	possibly damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gigyf2	G	T	1: 87,371,396 (GRCm39)	V1170L	probably damaging	Het
Gm14412	G	T	2: 177,009,133 (GRCm39)	T41K	probably benign	Het
Gm45861	A	G	8: 27,990,086 (GRCm39)		probably null	Het
H2bc4	T	C	13: 23,868,483 (GRCm39)	I90T	probably damaging	Het
Hoxc5	A	G	15: 102,922,322 (GRCm39)		probably benign	Het
Jkampl	A	T	6: 73,445,918 (GRCm39)	Y210*	probably null	Het
Klra1	T	C	6: 130,349,817 (GRCm39)	D207G	probably benign	Het
Lancl2	A	G	6: 57,680,240 (GRCm39)	N57D	probably benign	Het
Map2k4	T	C	11: 65,582,577 (GRCm39)		probably benign	Het
Mgat3	G	T	15: 80,096,401 (GRCm39)	Q409H	probably damaging	Het
Mpp3	T	A	11: 101,892,974 (GRCm39)		probably null	Het
Myh1	T	A	11: 67,105,396 (GRCm39)	L1062Q	probably damaging	Het
Nebl	T	A	2: 17,439,725 (GRCm39)	K183*	probably null	Het
Npat	G	C	9: 53,469,458 (GRCm39)	D315H	probably damaging	Het
Nt5c2	A	G	19: 46,912,766 (GRCm39)	V63A	probably damaging	Het
Opn1sw	T	A	6: 29,379,846 (GRCm39)	E129D	probably damaging	Het
Or10ag2	C	T	2: 87,248,796 (GRCm39)	R135C	probably benign	Het
Or1e29	T	G	11: 73,667,676 (GRCm39)	H159P	probably damaging	Het
Or51t4	A	T	7: 102,597,722 (GRCm39)	T17S	possibly damaging	Het
Or5p1	A	T	7: 107,916,989 (GRCm39)	D296V	probably damaging	Het
Prdm16	T	C	4: 154,407,764 (GRCm39)	Y1153C	probably damaging	Het
Prdm6	T	A	18: 53,669,698 (GRCm39)	D105E	probably benign	Het
Pwwp4c	C	T	X: 73,684,021 (GRCm39)	R355H	probably damaging	Homo
Rbm27	T	C	18: 42,434,929 (GRCm39)	M331T	probably benign	Het
S1pr1	A	G	3: 115,505,710 (GRCm39)	Y295H	probably damaging	Het
Sgpp1	G	C	12: 75,782,243 (GRCm39)	P32R	probably benign	Het
Sla2	C	T	2: 156,725,589 (GRCm39)	S3N	unknown	Het
Slc10a6	A	G	5: 103,776,896 (GRCm39)	I68T	probably damaging	Het
Slc5a1	T	C	5: 33,315,460 (GRCm39)	F493S	probably benign	Het
Snx14	A	T	9: 88,263,845 (GRCm39)	Y847N	probably benign	Het
Tmc1	A	G	19: 20,805,015 (GRCm39)		probably null	Het
Vps8	C	A	16: 21,381,957 (GRCm39)	Q1130K	probably benign	Het

Other mutations in Aida

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Aida	APN	1	183,094,618 (GRCm39)	nonsense	probably null
billowing	UTSW	1	183,103,346 (GRCm39)	missense	probably damaging	1.00
omentum	UTSW	1	183,085,610 (GRCm39)	splice site	probably null
R1660:Aida	UTSW	1	183,079,127 (GRCm39)	missense	probably damaging	1.00
R1853:Aida	UTSW	1	183,087,380 (GRCm39)	missense	probably benign
R1991:Aida	UTSW	1	183,094,627 (GRCm39)	missense	probably benign
R2103:Aida	UTSW	1	183,094,627 (GRCm39)	missense	probably benign
R2159:Aida	UTSW	1	183,103,234 (GRCm39)	missense	probably benign	0.02
R3709:Aida	UTSW	1	183,085,610 (GRCm39)	splice site	probably null
R3710:Aida	UTSW	1	183,085,610 (GRCm39)	splice site	probably null
R5425:Aida	UTSW	1	183,103,201 (GRCm39)	missense	possibly damaging	0.78
R6281:Aida	UTSW	1	183,103,145 (GRCm39)	missense	probably damaging	0.99
R7409:Aida	UTSW	1	183,099,809 (GRCm39)	missense	probably benign	0.01
R7805:Aida	UTSW	1	183,085,633 (GRCm39)	missense	probably damaging	0.98
R9045:Aida	UTSW	1	183,094,940 (GRCm39)	missense	possibly damaging	0.93
R9594:Aida	UTSW	1	183,095,012 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GCGGCCATTTTCTTTGAATTCAAAC -3'
(R):5'- TGTTGAAGGGCTCACTTCCTG -3'

Sequencing Primer
(F):5'- CATTACAAGCCTAAAAAGAGGTTTAC -3'
(R):5'- CCTGTTGAAGGGTGATTATGCTACTC -3'

Posted On

2018-08-29