Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02805:Ankdd1b'

360365

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankdd1b

Ensembl Gene

ENSMUSG00000047117

Gene Name

ankyrin repeat and death domain containing 1B

Synonyms

9330128J19Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

96416134-96471198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96444302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 163 (S163P)

Ref Sequence

ENSEMBL: ENSMUSP00000061643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055607]

AlphaFold

Q14DN9

Predicted Effect

probably benign
Transcript: ENSMUST00000055607
AA Change: S163P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061643
Gene: ENSMUSG00000047117
AA Change: S163P

Domain	Start	End	E-Value	Type
ANK	4	33	2.54e-2	SMART
ANK	37	66	6.36e-3	SMART
ANK	70	101	5.09e-2	SMART
ANK	105	137	1.07e0	SMART
ANK	138	167	1.27e-2	SMART
ANK	171	200	3.65e-3	SMART
ANK	204	233	2.99e1	SMART
ANK	237	266	4.07e-1	SMART
ANK	270	299	6.92e-4	SMART
ANK	303	335	1.76e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181613

SMART Domains

Protein: ENSMUSP00000137862
Gene: ENSMUSG00000047117

Domain	Start	End	E-Value	Type
ANK	56	89	6.6e0	SMART
ANK	93	122	3.9e-5	SMART
ANK	126	157	3.3e-4	SMART
ANK	161	193	7e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,223,133		probably benign	Het
Ap5z1	G	A	5: 142,470,283		probably benign	Het
Asb14	A	G	14: 26,901,187	N172S	possibly damaging	Het
Avil	G	A	10: 127,007,617	V139I	possibly damaging	Het
C130073F10Rik	A	T	4: 101,890,974	M1K	probably null	Het
Ccdc189	T	C	7: 127,586,394	D121G	possibly damaging	Het
Ccdc33	T	A	9: 58,098,591	I37F	probably benign	Het
Ccdc9	T	C	7: 16,275,274	M550V	probably benign	Het
Cgn	T	A	3: 94,774,377	L469F	probably damaging	Het
Dnaaf3	C	T	7: 4,523,705	G458R	possibly damaging	Het
Dscaml1	T	A	9: 45,447,897	N151K	probably damaging	Het
Dsel	A	G	1: 111,862,316	V163A	probably damaging	Het
Dusp27	T	C	1: 166,099,061	E994G	probably damaging	Het
Epg5	A	G	18: 78,030,191		probably benign	Het
Fanca	A	T	8: 123,289,494	I670N	probably damaging	Het
Fsip2	T	C	2: 82,993,495	V6524A	probably benign	Het
Gm10985	T	C	3: 53,845,093		probably null	Het
Gm1818	C	T	12: 48,555,735		noncoding transcript	Het
Hars2	C	T	18: 36,787,577	R158*	probably null	Het
Htr5b	A	G	1: 121,527,888	V101A	probably damaging	Het
Ipp	A	G	4: 116,529,688	I356V	possibly damaging	Het
Itga8	T	A	2: 12,189,480	N703I	possibly damaging	Het
Olfr147	T	A	9: 38,403,836		probably benign	Het
Ppp6r3	T	C	19: 3,492,428	N406D	probably benign	Het
Rbbp6	G	A	7: 123,001,188		probably benign	Het
Rgs7	T	C	1: 175,149,696	Y114C	probably damaging	Het
Ripor1	A	G	8: 105,617,571	T446A	probably damaging	Het
Rnf213	A	G	11: 119,435,066	D1562G	probably damaging	Het
Scaf11	A	T	15: 96,420,182	D500E	possibly damaging	Het
Spock1	A	G	13: 57,907,577	I4T	possibly damaging	Het
Srebf2	C	A	15: 82,169,844	N35K	probably benign	Het
Srgap3	G	T	6: 112,727,263	H922N	probably damaging	Het
Stk32c	A	C	7: 139,121,846	H112Q	probably damaging	Het
Thumpd3	A	G	6: 113,066,797	D391G	probably damaging	Het
Vmn2r38	T	A	7: 9,075,547	H612L	probably damaging	Het
Vsig10l	T	G	7: 43,465,242	I289S	probably damaging	Het
Wwox	G	A	8: 114,712,013	G273E	probably damaging	Het
Zscan4d	T	G	7: 11,164,970		probably benign	Het

Other mutations in Ankdd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Ankdd1b	APN	13	96417830	unclassified	probably benign
IGL00849:Ankdd1b	APN	13	96420733	missense	probably damaging	1.00
IGL02980:Ankdd1b	UTSW	13	96435940	missense	probably benign	0.01
R1454:Ankdd1b	UTSW	13	96433405	splice site	probably null
R1730:Ankdd1b	UTSW	13	96460903	missense	probably damaging	0.99
R1759:Ankdd1b	UTSW	13	96419703	missense	probably damaging	1.00
R4716:Ankdd1b	UTSW	13	96454583	nonsense	probably null
R4719:Ankdd1b	UTSW	13	96417747	unclassified	probably benign
R5262:Ankdd1b	UTSW	13	96420773	missense	probably damaging	1.00
R6329:Ankdd1b	UTSW	13	96454880	missense	possibly damaging	0.76
R6418:Ankdd1b	UTSW	13	96460897	missense	probably damaging	1.00
R6869:Ankdd1b	UTSW	13	96444291	missense	possibly damaging	0.77
R7126:Ankdd1b	UTSW	13	96429862	missense	possibly damaging	0.93
R7442:Ankdd1b	UTSW	13	96424760	missense	possibly damaging	0.77
R7840:Ankdd1b	UTSW	13	96419798	critical splice acceptor site	probably null
R7921:Ankdd1b	UTSW	13	96424780	missense	possibly damaging	0.86
R8328:Ankdd1b	UTSW	13	96454866	missense	possibly damaging	0.75
R9553:Ankdd1b	UTSW	13	96454786	missense	possibly damaging	0.84

Posted On

2015-12-18