Mutagenetix > Incidental Mutation

Incidental Mutation 'R6281:Aida'

507942

Institutional Source

Beutler Lab

Gene Symbol

Aida

Ensembl Gene

ENSMUSG00000042901

Gene Name

axin interactor, dorsalization associated

Synonyms

2610208M17Rik

MMRRC Submission

044451-MU

Accession Numbers

Essential gene?

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

Stock #

R6281 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

183078604-183105356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 183103145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 237 (A237V)

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: A237V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104795
Gene: ENSMUSG00000042901
AA Change: A237V

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

noncoding transcript
Transcript: ENSMUST00000192293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193359

Predicted Effect

probably benign
Transcript: ENSMUST00000193625
AA Change: A155V

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000141649
Gene: ENSMUSG00000042901
AA Change: A155V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195268

Meta Mutation Damage Score

0.4116

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,258,620 (GRCm39)	C166F	probably damaging	Het
Ankib1	T	C	5: 3,751,965 (GRCm39)	T692A	possibly damaging	Het
As3mt	T	C	19: 46,713,362 (GRCm39)	V303A	possibly damaging	Het
Bhlhe40	T	A	6: 108,641,423 (GRCm39)		probably null	Het
Bhmt2	G	A	13: 93,799,668 (GRCm39)	P256L	probably damaging	Het
Bpifb1	T	C	2: 154,048,385 (GRCm39)	I140T	probably damaging	Het
Cat	A	T	2: 103,302,114 (GRCm39)	H194Q	probably damaging	Het
Cbfa2t3	C	A	8: 123,360,148 (GRCm39)	R466L	probably damaging	Het
Fancm	T	C	12: 65,135,044 (GRCm39)	V279A	probably damaging	Het
Gabra2	T	C	5: 71,192,105 (GRCm39)	T75A	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm3512	T	A	14: 7,159,254 (GRCm38)	D7V	possibly damaging	Het
Gpr15	A	G	16: 58,538,957 (GRCm39)	F44S	probably damaging	Het
Ighv1-72	C	A	12: 115,722,023 (GRCm39)	C5F	probably benign	Het
Lilra6	A	G	7: 3,914,972 (GRCm39)	L474P	probably damaging	Het
Mboat2	T	C	12: 25,007,678 (GRCm39)	V297A	probably benign	Het
Muc2	C	G	7: 141,306,140 (GRCm39)	C276W	probably damaging	Het
Ncor1	T	C	11: 62,264,371 (GRCm39)	S141G	possibly damaging	Het
Or4k77	T	C	2: 111,199,894 (GRCm39)	*306R	probably null	Het
Or5p80	T	G	7: 108,229,609 (GRCm39)	S137A	probably benign	Het
Pax5	T	G	4: 44,691,955 (GRCm39)	E97A	probably benign	Het
Pcdhga11	A	T	18: 37,890,426 (GRCm39)	D478V	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phf21b	G	T	15: 84,738,946 (GRCm39)	D38E	probably benign	Het
Ptcd1	T	C	5: 145,101,881 (GRCm39)	K146R	probably benign	Het
Rad23a	A	T	8: 85,564,739 (GRCm39)	M166K	probably damaging	Het
Rfc4	A	T	16: 22,936,816 (GRCm39)		probably null	Het
Slc17a3	T	A	13: 24,040,782 (GRCm39)	I336N	probably benign	Het
Slc2a12	T	A	10: 22,541,219 (GRCm39)	M358K	probably damaging	Het
Stk31	T	G	6: 49,446,114 (GRCm39)	M939R	possibly damaging	Het
Tecrl	T	A	5: 83,442,453 (GRCm39)	T167S	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Ttn	C	T	2: 76,772,172 (GRCm39)	V2577M	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vezt	G	A	10: 93,809,808 (GRCm39)	R578C	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vwa3b	T	A	1: 37,163,063 (GRCm39)	L562Q	probably damaging	Het
Zfyve27	T	A	19: 42,171,194 (GRCm39)	N127K	probably damaging	Het
Znfx1	A	G	2: 166,897,805 (GRCm39)	F373S	probably damaging	Het
Zswim8	G	A	14: 20,764,708 (GRCm39)	V693I	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
R6784:Aida	UTSW	1	183,103,346 (GRCm39)	missense	probably damaging	1.00
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'- GCTCAGGAAGGTTTGCTAGAC -3'
(R):5'- GGGTTTCTTGTATCTGAAAGCAC -3'

Sequencing Primer
(F):5'- CAGGAAGGTTTGCTAGACTTTGTAG -3'
(R):5'- GTTTCTTGTATCTGAAAGCACAAAAG -3'

Posted On

2018-03-15