Mutagenetix > Incidental Mutation

Incidental Mutation 'R6300:Ankdd1a'

509039

Institutional Source

Beutler Lab

Gene Symbol

Ankdd1a

Ensembl Gene

ENSMUSG00000066510

Gene Name

ankyrin repeat and death domain containing 1A

Synonyms

LOC384945, EG330963

MMRRC Submission

044409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R6300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65395752-65427475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65415343 bp (GRCm39)

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: 98.3%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,642,885 (GRCm39)	T185A	possibly damaging	Het
4932414N04Rik	A	G	2: 68,561,453 (GRCm39)	Y260C	possibly damaging	Het
Adamtsl1	G	A	4: 86,166,254 (GRCm39)	G395S	probably damaging	Het
Amn	T	C	12: 111,240,623 (GRCm39)	L85P	probably benign	Het
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apip	C	T	2: 102,917,498 (GRCm39)	R66C	possibly damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Apol6	A	T	15: 76,935,471 (GRCm39)	I247L	probably benign	Het
Arfgap2	A	G	2: 91,097,540 (GRCm39)	Q112R	probably benign	Het
Armh1	A	G	4: 117,088,979 (GRCm39)	Y139H	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cct2	C	T	10: 116,892,064 (GRCm39)	G328D	probably damaging	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cers5	G	T	15: 99,670,100 (GRCm39)	A54E	probably damaging	Het
Ctdp1	T	A	18: 80,502,455 (GRCm39)	M152L	probably benign	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Defb36	T	A	2: 152,454,418 (GRCm39)	W26R	probably damaging	Het
Dnah17	T	C	11: 117,925,136 (GRCm39)	E3899G	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Duox1	T	G	2: 122,168,181 (GRCm39)	L1102R	probably damaging	Het
Dzip3	A	G	16: 48,772,170 (GRCm39)	S500P	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Hoxd3	A	G	2: 74,574,420 (GRCm39)	Y22C	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il6ra	A	G	3: 89,794,436 (GRCm39)	V175A	probably damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Marchf10	T	C	11: 105,273,063 (GRCm39)	E692G	probably damaging	Het
Mars1	G	A	10: 127,132,429 (GRCm39)	T856M	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pepd	G	A	7: 34,668,968 (GRCm39)	R196H	probably damaging	Het
Pla2g4e	A	T	2: 120,013,219 (GRCm39)	M367K	probably benign	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Serpina3k	A	T	12: 104,306,981 (GRCm39)	N71I	probably damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Smc4	T	C	3: 68,935,224 (GRCm39)	V771A	probably benign	Het
Snapc4	A	G	2: 26,268,563 (GRCm39)	S33P	probably benign	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tjp3	T	A	10: 81,116,951 (GRCm39)	R193*	probably null	Het
Tm7sf2	A	T	19: 6,117,230 (GRCm39)	W58R	probably damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Utrn	T	A	10: 12,377,220 (GRCm39)	Y2612F	probably benign	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp382	G	A	7: 29,831,054 (GRCm39)		probably null	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably damaging	Het

Other mutations in Ankdd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Ankdd1a	APN	9	65,415,984 (GRCm39)	missense	probably damaging	1.00
IGL01372:Ankdd1a	APN	9	65,411,421 (GRCm39)	missense	probably damaging	1.00
IGL01932:Ankdd1a	APN	9	65,414,893 (GRCm39)	splice site	probably benign
IGL02150:Ankdd1a	APN	9	65,420,001 (GRCm39)	missense	probably damaging	1.00
IGL03243:Ankdd1a	APN	9	65,408,752 (GRCm39)	missense	probably benign	0.28
PIT4618001:Ankdd1a	UTSW	9	65,414,932 (GRCm39)	missense	possibly damaging	0.76
R0137:Ankdd1a	UTSW	9	65,417,610 (GRCm39)	missense	probably null	0.26
R0302:Ankdd1a	UTSW	9	65,416,924 (GRCm39)	splice site	probably benign
R0980:Ankdd1a	UTSW	9	65,424,253 (GRCm39)	missense	probably damaging	1.00
R1832:Ankdd1a	UTSW	9	65,411,771 (GRCm39)	critical splice donor site	probably null
R3887:Ankdd1a	UTSW	9	65,409,530 (GRCm39)	missense	probably damaging	1.00
R4470:Ankdd1a	UTSW	9	65,410,791 (GRCm39)	missense	probably damaging	1.00
R4471:Ankdd1a	UTSW	9	65,410,791 (GRCm39)	missense	probably damaging	1.00
R5326:Ankdd1a	UTSW	9	65,411,472 (GRCm39)	critical splice acceptor site	probably null
R5394:Ankdd1a	UTSW	9	65,412,496 (GRCm39)	missense	probably benign	0.12
R5542:Ankdd1a	UTSW	9	65,411,472 (GRCm39)	critical splice acceptor site	probably null
R5594:Ankdd1a	UTSW	9	65,409,523 (GRCm39)	missense	probably damaging	1.00
R5933:Ankdd1a	UTSW	9	65,416,978 (GRCm39)	missense	probably benign	0.11
R6217:Ankdd1a	UTSW	9	65,415,343 (GRCm39)	missense	possibly damaging	0.85
R6294:Ankdd1a	UTSW	9	65,427,446 (GRCm39)	missense	probably benign	0.12
R6301:Ankdd1a	UTSW	9	65,415,343 (GRCm39)	missense	possibly damaging	0.85
R6305:Ankdd1a	UTSW	9	65,415,343 (GRCm39)	missense	possibly damaging	0.85
R6306:Ankdd1a	UTSW	9	65,415,343 (GRCm39)	missense	possibly damaging	0.85
R6307:Ankdd1a	UTSW	9	65,415,343 (GRCm39)	missense	possibly damaging	0.85
R6312:Ankdd1a	UTSW	9	65,415,343 (GRCm39)	missense	possibly damaging	0.85
R6313:Ankdd1a	UTSW	9	65,415,343 (GRCm39)	missense	possibly damaging	0.85
R6314:Ankdd1a	UTSW	9	65,415,343 (GRCm39)	missense	possibly damaging	0.85
R6413:Ankdd1a	UTSW	9	65,417,654 (GRCm39)	missense	probably benign
R6431:Ankdd1a	UTSW	9	65,424,220 (GRCm39)	missense	possibly damaging	0.92
R6477:Ankdd1a	UTSW	9	65,409,494 (GRCm39)	missense	probably benign	0.10
R6991:Ankdd1a	UTSW	9	65,415,957 (GRCm39)	missense	probably benign	0.22
R7260:Ankdd1a	UTSW	9	65,411,834 (GRCm39)	missense	probably damaging	0.96
R7586:Ankdd1a	UTSW	9	65,409,466 (GRCm39)	critical splice donor site	probably null
R8680:Ankdd1a	UTSW	9	65,412,418 (GRCm39)	missense	probably damaging	1.00
R8809:Ankdd1a	UTSW	9	65,415,422 (GRCm39)	splice site	probably benign
R9562:Ankdd1a	UTSW	9	65,411,452 (GRCm39)	missense	possibly damaging	0.62
R9565:Ankdd1a	UTSW	9	65,411,452 (GRCm39)	missense	possibly damaging	0.62
R9772:Ankdd1a	UTSW	9	65,408,749 (GRCm39)	missense	probably damaging	1.00
X0064:Ankdd1a	UTSW	9	65,410,735 (GRCm39)	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