Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02742:Ankib1'

305940

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02742

Quality Score

Status

Chromosome

Chromosomal Location

3690000-3802925 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3693479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 845 (D845E)

Ref Sequence

ENSEMBL: ENSMUSP00000040946 (fasta)

Gene Model

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

AlphaFold

Q6ZPS6

Predicted Effect

probably benign
Transcript: ENSMUST00000043551
AA Change: D845E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: D845E

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: ENSMUST00000174957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199043

Predicted Effect

probably benign
Transcript: ENSMUST00000200335

SMART Domains

Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,095,625	T506A	probably damaging	Het
AI314180	A	G	4: 58,840,757	V667A	probably damaging	Het
Atxn2	T	C	5: 121,781,336	V369A	possibly damaging	Het
Ccdc50	T	A	16: 27,406,784		probably benign	Het
Clec2g	A	G	6: 128,980,261	I61V	possibly damaging	Het
Col16a1	G	A	4: 130,061,379		probably benign	Het
Dapk2	A	G	9: 66,231,814	Y139C	probably damaging	Het
Fnip1	T	C	11: 54,493,351	L334P	probably damaging	Het
Igf1r	A	G	7: 68,189,991	E682G	possibly damaging	Het
Ints8	T	C	4: 11,241,627	E272G	possibly damaging	Het
Jph2	G	A	2: 163,375,779	P326S	probably damaging	Het
Krtap1-4	T	C	11: 99,583,114		probably benign	Het
Lrp5	A	G	19: 3,604,022	I1135T	probably damaging	Het
Lrrk1	A	G	7: 66,308,691	V320A	probably benign	Het
Myh6	A	C	14: 54,953,924	I820S	possibly damaging	Het
Napg	A	T	18: 62,986,248	T110S	probably damaging	Het
Nova1	G	A	12: 46,720,692	Q56*	probably null	Het
Phyhip	A	G	14: 70,461,927		probably null	Het
Pkd2l2	C	A	18: 34,416,917	S205*	probably null	Het
Ppp2r1a	G	T	17: 20,959,003	C101F	probably benign	Het
Serpinb3c	G	A	1: 107,273,142	R182*	probably null	Het
St18	A	C	1: 6,802,316		probably benign	Het
St6galnac4	C	T	2: 32,597,084	R264C	possibly damaging	Het
Tmem168	T	C	6: 13,603,262	Y35C	probably benign	Het
Tmem219	A	G	7: 126,897,048	L74P	probably damaging	Het
Trpc4	T	A	3: 54,299,246	N622K	probably damaging	Het
Trpm6	A	C	19: 18,830,012		probably benign	Het
Ttl	C	A	2: 129,066,293	F49L	possibly damaging	Het
Vmn1r123	A	T	7: 21,163,043	I287F	possibly damaging	Het
Vmn2r97	T	G	17: 18,929,170	I273M	probably damaging	Het
Wdr5	C	A	2: 27,520,425		probably benign	Het
Zcchc6	C	T	13: 59,816,342	D250N	probably damaging	Het
Zfp37	C	A	4: 62,192,311	C172F	possibly 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
IGL01593:Ankib1	APN	5	3732590	missense	probably benign	0.00
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
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
R8712:Ankib1	UTSW	5	3772643	missense	probably benign	0.03
R8750:Ankib1	UTSW	5	3702890	critical splice donor site	probably null
R8854:Ankib1	UTSW	5	3727489	missense	probably null	0.97
R9032:Ankib1	UTSW	5	3769641	missense	probably benign	0.16
R9180:Ankib1	UTSW	5	3706276	missense	probably damaging	1.00
R9325:Ankib1	UTSW	5	3772523	missense	possibly damaging	0.81
R9474:Ankib1	UTSW	5	3755617	missense	probably damaging	0.98
R9504:Ankib1	UTSW	5	3713235	missense	probably benign
R9564:Ankib1	UTSW	5	3755733	missense	possibly damaging	0.87
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

2015-04-16