Mutagenetix > Incidental Mutation

Incidental Mutation 'R4470:Ankdd1a'

329378

Institutional Source

Beutler Lab

Gene Symbol

Ankdd1a

Ensembl Gene

ENSMUSG00000066510

Gene Name

ankyrin repeat and death domain containing 1A

Synonyms

LOC384945, EG330963

MMRRC Submission

041727-MU

Accession Numbers

Essential gene?

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

Stock #

R4470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65395752-65427475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65410791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 398 (D398G)

Ref Sequence

ENSEMBL: ENSMUSP00000150130 (fasta)

Gene Model

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

AlphaFold

F8VQ39

Predicted Effect

probably benign
Transcript: ENSMUST00000061766
AA Change: D369G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000057040
Gene: ENSMUSG00000066510
AA Change: D369G

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

noncoding transcript
Transcript: ENSMUST00000217144

Predicted Effect

probably damaging
Transcript: ENSMUST00000217646
AA Change: D398G

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

Meta Mutation Damage Score

0.3537

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	C	16: 85,595,404 (GRCm39)	V258G	possibly damaging	Het
Adcy1	A	G	11: 7,094,804 (GRCm39)	T577A	probably benign	Het
Adgb	T	C	10: 10,274,695 (GRCm39)	N728S	probably benign	Het
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Atp13a1	T	C	8: 70,251,329 (GRCm39)	S495P	probably damaging	Het
Camta2	T	C	11: 70,571,766 (GRCm39)	D510G	probably damaging	Het
Cdh8	T	A	8: 100,143,321 (GRCm39)		probably benign	Het
Cul9	C	T	17: 46,849,262 (GRCm39)	A628T	probably benign	Het
Ddx19a	A	G	8: 111,703,111 (GRCm39)	V442A	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dnah7c	T	A	1: 46,787,795 (GRCm39)	S3283T	possibly damaging	Het
Fmo9	T	A	1: 166,507,799 (GRCm39)	I19F	probably damaging	Het
Gmeb2	A	T	2: 180,906,938 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,219,035 (GRCm39)	R23C	probably benign	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Il16	A	G	7: 83,300,046 (GRCm39)		probably benign	Het
Kcnj3	A	T	2: 55,327,877 (GRCm39)	H222L	probably damaging	Het
Lama4	T	A	10: 38,956,492 (GRCm39)	Y1138*	probably null	Het
Lpin3	A	G	2: 160,737,354 (GRCm39)	T134A	probably benign	Het
Man1b1	C	G	2: 25,222,867 (GRCm39)		probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mylk	A	G	16: 34,732,522 (GRCm39)	K601E	probably benign	Het
Myzap	A	G	9: 71,499,563 (GRCm39)		probably benign	Het
Ncor2	A	T	5: 125,179,705 (GRCm39)		probably null	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or1j16	T	C	2: 36,530,233 (GRCm39)	F61L	probably damaging	Het
Or4c114	T	C	2: 88,905,382 (GRCm39)	N18D	probably benign	Het
Or4d6	T	C	19: 12,086,547 (GRCm39)		probably null	Het
Or51b4	G	A	7: 103,530,956 (GRCm39)	P165S	probably benign	Het
Or6c202	G	A	10: 128,996,383 (GRCm39)	L157F	probably benign	Het
Or8c13	A	G	9: 38,091,666 (GRCm39)	M151T	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Pramel5	T	C	4: 143,997,915 (GRCm39)	K443E	possibly damaging	Het
Rock2	C	T	12: 17,021,276 (GRCm39)	Q1019*	probably null	Het
Rps18-ps3	T	A	8: 107,989,762 (GRCm39)		noncoding transcript	Het
Sis	T	C	3: 72,835,492 (GRCm39)		probably null	Het
Slc22a21	T	A	11: 53,846,839 (GRCm39)	I345F	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Taf1c	T	C	8: 120,326,361 (GRCm39)	K526R	probably benign	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tbx4	A	G	11: 85,802,948 (GRCm39)	I275V	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmem9	A	G	1: 135,955,234 (GRCm39)	T123A	probably benign	Het
Trim69	A	G	2: 122,009,080 (GRCm39)	Y380C	probably damaging	Het
Vldlr	G	T	19: 27,212,219 (GRCm39)	V78L	probably damaging	Het
Vmn1r68	A	T	7: 10,261,275 (GRCm39)	N274K	probably benign	Het
Vmn2r104	G	T	17: 20,262,503 (GRCm39)	S209Y	probably damaging	Het
Vmn2r108	T	A	17: 20,682,990 (GRCm39)	N738I	probably damaging	Het
Wnt3	A	G	11: 103,703,450 (GRCm39)	D311G	probably damaging	Het
Yme1l1	T	C	2: 23,076,344 (GRCm39)		probably null	Het
Zcchc14	C	T	8: 122,378,498 (GRCm39)		probably benign	Het
Zfp148	T	C	16: 33,316,602 (GRCm39)	Y383H	probably damaging	Het
Zfp41	A	G	15: 75,490,368 (GRCm39)	R107G	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
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
R6300:Ankdd1a	UTSW	9	65,415,343 (GRCm39)	missense	possibly damaging	0.85
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'- TTTCCCCAGCTGCACAGAAC -3'
(R):5'- CCCATGCTGATTCAGGTTCC -3'

Sequencing Primer
(F):5'- ACATGCCCCTATCCACGGG -3'
(R):5'- ATGCTGATTCAGGTTCCCAGGTTC -3'

Posted On

2015-07-21