Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Ankdd1a'

510526

Institutional Source

Beutler Lab

Gene Symbol

Ankdd1a

Ensembl Gene

ENSMUSG00000066510

Gene Name

ankyrin repeat and death domain containing 1A

Synonyms

LOC384945

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65488470-65520193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65508061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 227 (A227T)

Ref Sequence

ENSEMBL: ENSMUSP00000057040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061766] [ENSMUST00000217646]

AlphaFold

F8VQ39

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061766
AA Change: A227T

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057040
Gene: ENSMUSG00000066510
AA Change: A227T

Domain	Start	End	E-Value	Type
ANK	4	33	1.31e3	SMART
ANK	37	66	2.1e-3	SMART
ANK	70	99	6.26e-2	SMART
ANK	103	132	8.72e-1	SMART
ANK	138	167	5.09e-2	SMART
ANK	171	200	4.03e-5	SMART
ANK	204	233	5.32e-5	SMART
ANK	237	268	8.72e-1	SMART
ANK	270	299	8.99e-3	SMART
ANK	303	332	1.23e0	SMART
ANK	336	364	1.4e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217646
AA Change: A237T

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1272

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	C	T	9: 51,290,181	D192N	probably damaging	Het
4932415D10Rik	T	C	10: 82,293,636	N1180S	probably benign	Het
Abca16	T	C	7: 120,527,121	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
Acaca	C	T	11: 84,292,929	T32I	probably benign	Het
Adam6a	A	T	12: 113,545,050	N348Y	possibly damaging	Het
Arhgef38	T	C	3: 133,234,708	D39G	possibly damaging	Het
Arid5b	T	C	10: 68,097,582	D587G	possibly damaging	Het
Brwd1	A	G	16: 96,007,941	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,205	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,774,522	Q53R	probably benign	Het
Celsr2	G	A	3: 108,401,214	S1799L	probably damaging	Het
Cenpe	A	G	3: 135,230,175	E457G	probably benign	Het
Cmtm1	A	T	8: 104,305,163	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,368,171		noncoding transcript	Het
Decr1	T	A	4: 15,924,261	M220L	probably benign	Het
Dgkg	T	G	16: 22,519,561	D592A	probably damaging	Het
Dkkl1	T	C	7: 45,211,438	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,659,514	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,481,371	E146D	probably benign	Het
Efhc1	T	C	1: 20,979,428	V504A	possibly damaging	Het
Ermard	T	G	17: 15,053,205		probably null	Het
Espl1	T	C	15: 102,315,812	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,403,397	V40G	probably damaging	Het
Gm3460	A	T	14: 6,619,410	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,620,097	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,157,532		probably null	Het
Hc	T	C	2: 34,989,839		probably null	Het
Iars	T	C	13: 49,708,445	S491P	probably damaging	Het
Knl1	T	A	2: 119,069,318	L500H	probably damaging	Het
Lamb1	A	T	12: 31,269,147	T102S	probably damaging	Het
Lrrc7	A	G	3: 158,160,736	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,871,727		probably null	Het
Mmp11	A	G	10: 75,923,984	*4R	probably null	Het
Myom1	A	T	17: 71,082,488	D911V	probably benign	Het
Nid1	A	G	13: 13,463,782	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,353,172	V839L	probably benign	Het
Notch3	A	T	17: 32,151,154		probably null	Het
Olfr1082	T	C	2: 86,594,067	T254A	possibly damaging	Het
Pcdh8	T	C	14: 79,767,651	H978R	probably benign	Het
Pde8b	A	T	13: 95,042,000	C537*	probably null	Het
Polr1b	T	C	2: 129,125,446	F920L	probably damaging	Het
Polr2f	A	G	15: 79,151,373	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421	H133L	probably damaging	Het
Ptk2b	T	A	14: 66,178,831	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,244,133	M343K	probably benign	Het
Rlf	G	A	4: 121,148,610	R1058W	probably damaging	Het
S100z	T	A	13: 95,478,574	K28*	probably null	Het
Scarf1	T	A	11: 75,520,315	N273K	probably benign	Het
Setd2	A	G	9: 110,556,366	I136M	unknown	Het
Sfrp2	A	G	3: 83,766,984	D148G	probably benign	Het
Slc24a4	A	G	12: 102,254,510	E400G	probably benign	Het
Slc2a9	T	G	5: 38,453,121	I112L	probably benign	Het
Smc5	A	T	19: 23,208,948	Y972*	probably null	Het
Sntg1	T	C	1: 8,445,024		probably null	Het
Stag1	A	G	9: 100,757,733	D114G	probably damaging	Het
Suclg1	T	C	6: 73,256,209	S46P	probably damaging	Het
Synj1	C	T	16: 90,946,815	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,755,447	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,744,356		probably null	Het
Tchh	C	A	3: 93,447,851	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,962,170	T887A	probably benign	Het
Ttn	T	C	2: 76,706,593	I34963V	probably benign	Het
Unc79	G	A	12: 103,112,619	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,382,605	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,990,491	N337K	probably benign	Het
Zfp260	T	A	7: 30,104,842	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,292,682	E610K	probably damaging	Het

Other mutations in Ankdd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Ankdd1a	APN	9	65508702	missense	probably damaging	1.00
IGL01372:Ankdd1a	APN	9	65504139	missense	probably damaging	1.00
IGL01932:Ankdd1a	APN	9	65507611	splice site	probably benign
IGL02150:Ankdd1a	APN	9	65512719	missense	probably damaging	1.00
IGL03243:Ankdd1a	APN	9	65501470	missense	probably benign	0.28
PIT4618001:Ankdd1a	UTSW	9	65507650	missense	possibly damaging	0.76
R0137:Ankdd1a	UTSW	9	65510328	missense	probably null	0.26
R0302:Ankdd1a	UTSW	9	65509642	splice site	probably benign
R0980:Ankdd1a	UTSW	9	65516971	missense	probably damaging	1.00
R1832:Ankdd1a	UTSW	9	65504489	critical splice donor site	probably null
R3887:Ankdd1a	UTSW	9	65502248	missense	probably damaging	1.00
R4470:Ankdd1a	UTSW	9	65503509	missense	probably damaging	1.00
R4471:Ankdd1a	UTSW	9	65503509	missense	probably damaging	1.00
R5326:Ankdd1a	UTSW	9	65504190	critical splice acceptor site	probably null
R5394:Ankdd1a	UTSW	9	65505214	missense	probably benign	0.12
R5542:Ankdd1a	UTSW	9	65504190	critical splice acceptor site	probably null
R5594:Ankdd1a	UTSW	9	65502241	missense	probably damaging	1.00
R5933:Ankdd1a	UTSW	9	65509696	missense	probably benign	0.11
R6217:Ankdd1a	UTSW	9	65508061	missense	possibly damaging	0.85
R6294:Ankdd1a	UTSW	9	65520164	missense	probably benign	0.12
R6300:Ankdd1a	UTSW	9	65508061	missense	possibly damaging	0.85
R6301:Ankdd1a	UTSW	9	65508061	missense	possibly damaging	0.85
R6305:Ankdd1a	UTSW	9	65508061	missense	possibly damaging	0.85
R6306:Ankdd1a	UTSW	9	65508061	missense	possibly damaging	0.85
R6307:Ankdd1a	UTSW	9	65508061	missense	possibly damaging	0.85
R6312:Ankdd1a	UTSW	9	65508061	missense	possibly damaging	0.85
R6314:Ankdd1a	UTSW	9	65508061	missense	possibly damaging	0.85
R6413:Ankdd1a	UTSW	9	65510372	missense	probably benign
R6431:Ankdd1a	UTSW	9	65516938	missense	possibly damaging	0.92
R6477:Ankdd1a	UTSW	9	65502212	missense	probably benign	0.10
R6991:Ankdd1a	UTSW	9	65508675	missense	probably benign	0.22
R7260:Ankdd1a	UTSW	9	65504552	missense	probably damaging	0.96
R7586:Ankdd1a	UTSW	9	65502184	critical splice donor site	probably null
R8680:Ankdd1a	UTSW	9	65505136	missense	probably damaging	1.00
R8809:Ankdd1a	UTSW	9	65508140	splice site	probably benign
R9562:Ankdd1a	UTSW	9	65504170	missense	possibly damaging	0.62
R9565:Ankdd1a	UTSW	9	65504170	missense	possibly damaging	0.62
R9772:Ankdd1a	UTSW	9	65501467	missense	probably damaging	1.00
X0064:Ankdd1a	UTSW	9	65503453	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAATGACTTTTGCTATGCCAC -3'
(R):5'- TTCCATCAGTGTGGGCTCAG -3'

Sequencing Primer
(F):5'- GCTATGCCACATTGCTAAGCCATG -3'
(R):5'- ACAGGTAACCAAGACTCTTGTTCTC -3'

Posted On

2018-04-02