Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01593:Ankib1'

91637

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankib1

Ensembl Gene

ENSMUSG00000040351

Gene Name

ankyrin repeat and IBR domain containing 1

Synonyms

2310061P20Rik, 4631416I11Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01593

Quality Score

Status

Chromosome

Chromosomal Location

3690000-3802925 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3732590 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 346 (D346E)

Ref Sequence

ENSEMBL: ENSMUSP00000040946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043551] [ENSMUST00000200335]

Predicted Effect

probably benign
Transcript: ENSMUST00000043551
AA Change: D346E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: D346E

Domain	Start	End	E-Value	Type
ANK	45	75	7.08e-1	SMART
ANK	145	174	2.32e-5	SMART
low complexity region	209	219	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
RING	334	382	9.73e-2	SMART
IBR	403	479	8.72e-12	SMART
IBR	502	566	2.59e-5	SMART
RING	520	644	2.36e0	SMART
low complexity region	764	773	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
UIM	846	865	3.62e-1	SMART
low complexity region	905	917	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199763

Predicted Effect

probably benign
Transcript: ENSMUST00000200335
AA Change: D346E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: D346E

Domain	Start	End	E-Value	Type
ANK	45	75	4.5e-3	SMART
ANK	145	174	1.4e-7	SMART
low complexity region	209	219	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
RING	334	382	4.6e-4	SMART
IBR	403	479	2.9e-14	SMART
IBR	502	566	8.3e-8	SMART
RING	520	644	1.1e-2	SMART
low complexity region	768	779	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,557,650	I310N	probably damaging	Het
Ackr4	C	T	9: 104,085,931		probably benign	Het
Armc4	T	C	18: 7,127,345	K956R	probably benign	Het
Asap2	G	T	12: 21,213,202	A273S	probably null	Het
Atp6v0d2	C	A	4: 19,881,436	R219L	probably damaging	Het
Atp6v1e2	A	T	17: 86,944,299	F224I	probably damaging	Het
Bnc2	T	C	4: 84,276,241		probably null	Het
Btbd11	T	A	10: 85,654,475		probably benign	Het
Cd33	A	G	7: 43,530,281	L241P	possibly damaging	Het
Clec4g	A	T	8: 3,719,474		probably null	Het
Dym	C	T	18: 75,114,781		probably benign	Het
Enpp5	A	G	17: 44,080,721	T14A	probably benign	Het
Ggt1	T	C	10: 75,585,287		probably null	Het
Gm17541	T	A	12: 4,689,868		probably benign	Het
Gpr39	A	T	1: 125,677,451	I39F	probably benign	Het
Kcnb1	G	T	2: 167,106,207	F240L	probably damaging	Het
Kcnt1	T	A	2: 25,898,754	V400E	probably damaging	Het
Klhdc7a	A	G	4: 139,966,814	I274T	probably damaging	Het
Lrwd1	A	T	5: 136,134,629	L71Q	probably damaging	Het
Mycbp2	A	T	14: 103,291,287		probably null	Het
Nckap1	A	T	2: 80,520,570	M725K	probably benign	Het
Olfr1535	T	A	13: 21,555,219	I268F	probably damaging	Het
Pole2	C	T	12: 69,223,099		probably null	Het
Prss32	A	G	17: 23,856,008	T111A	probably benign	Het
Rgs9	A	G	11: 109,249,049		probably benign	Het
Slc2a4	A	G	11: 69,944,828	C361R	probably damaging	Het
Ston1	G	A	17: 88,637,010	G615R	probably null	Het
Tas2r139	T	G	6: 42,140,957	W8G	probably benign	Het
Tmem101	A	T	11: 102,155,878	L55Q	probably damaging	Het
Tnni3k	T	C	3: 154,941,029		probably null	Het
Uba2	A	G	7: 34,146,264	V478A	probably damaging	Het
Vps13a	T	C	19: 16,762,181	D52G	probably damaging	Het

Other mutations in Ankib1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Ankib1	APN	5	3727573	missense	probably benign	0.20
IGL01329:Ankib1	APN	5	3734194	splice site	probably benign
IGL01372:Ankib1	APN	5	3772594	missense	probably damaging	1.00
IGL01613:Ankib1	APN	5	3713146	nonsense	probably null
IGL01728:Ankib1	APN	5	3701992	splice site	probably benign
IGL01782:Ankib1	APN	5	3727607	missense	probably damaging	1.00
IGL01878:Ankib1	APN	5	3734152	missense	possibly damaging	0.69
IGL02730:Ankib1	APN	5	3702995	missense	probably damaging	1.00
IGL02742:Ankib1	APN	5	3693479	missense	probably benign	0.04
IGL02873:Ankib1	APN	5	3772619	missense	probably damaging	1.00
R0033:Ankib1	UTSW	5	3769588	missense	possibly damaging	0.52
R0242:Ankib1	UTSW	5	3700344	splice site	probably benign
R0564:Ankib1	UTSW	5	3729655	missense	probably damaging	0.99
R0632:Ankib1	UTSW	5	3772529	missense	probably benign	0.02
R0732:Ankib1	UTSW	5	3713163	missense	possibly damaging	0.89
R1678:Ankib1	UTSW	5	3706301	missense	probably damaging	0.99
R1816:Ankib1	UTSW	5	3734028	missense	probably benign	0.05
R2165:Ankib1	UTSW	5	3713210	missense	possibly damaging	0.69
R3434:Ankib1	UTSW	5	3692760	missense	probably damaging	1.00
R3749:Ankib1	UTSW	5	3734097	missense	probably damaging	0.98
R4745:Ankib1	UTSW	5	3732566	missense	probably damaging	1.00
R4827:Ankib1	UTSW	5	3701907	missense	probably damaging	1.00
R4983:Ankib1	UTSW	5	3769652	missense	probably benign	0.09
R4989:Ankib1	UTSW	5	3713217	missense	probably damaging	0.99
R5022:Ankib1	UTSW	5	3734011	missense	possibly damaging	0.96
R5057:Ankib1	UTSW	5	3734011	missense	possibly damaging	0.96
R5510:Ankib1	UTSW	5	3729693	missense	probably benign	0.02
R5606:Ankib1	UTSW	5	3701907	missense	probably damaging	1.00
R5910:Ankib1	UTSW	5	3693217	missense	probably benign
R5929:Ankib1	UTSW	5	3769633	missense	possibly damaging	0.86
R5986:Ankib1	UTSW	5	3747071	missense	probably damaging	1.00
R6281:Ankib1	UTSW	5	3701965	missense	possibly damaging	0.70
R6336:Ankib1	UTSW	5	3700377	nonsense	probably null
R6377:Ankib1	UTSW	5	3693855	missense	possibly damaging	0.78
R7001:Ankib1	UTSW	5	3694781	missense	probably benign
R7264:Ankib1	UTSW	5	3755739	missense	probably damaging	1.00
R7380:Ankib1	UTSW	5	3722576	missense	probably benign	0.03
R7402:Ankib1	UTSW	5	3769586	missense	probably benign	0.01
R7491:Ankib1	UTSW	5	3701911	missense	probably damaging	1.00
R7525:Ankib1	UTSW	5	3755734	missense	possibly damaging	0.95
R7562:Ankib1	UTSW	5	3747021	missense	probably null	1.00
R8116:Ankib1	UTSW	5	3702995	missense	probably damaging	1.00
R8347:Ankib1	UTSW	5	3747065	missense	probably damaging	1.00
R8750:Ankib1	UTSW	5	3702890	critical splice donor site	unknown
Z1088:Ankib1	UTSW	5	3713136	missense	probably damaging	1.00
Z1088:Ankib1	UTSW	5	3713137	nonsense	probably null
Z1176:Ankib1	UTSW	5	3692763	missense	probably benign

Posted On

2013-12-09