Mutagenetix > Incidental Mutations

Incidental Mutation 'R5986:Ankib1'

481643

Institutional Source

Beutler Lab

Gene Symbol

Ankib1

Ensembl Gene

ENSMUSG00000040351

Gene Name

ankyrin repeat and IBR domain containing 1

Synonyms

2310061P20Rik, 4631416I11Rik

MMRRC Submission

044166-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3690000-3802925 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3747071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 247 (D247G)

Ref Sequence

ENSEMBL: ENSMUSP00000142687 (fasta)

Gene Model

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

AlphaFold

Q6ZPS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000043551
AA Change: D247G

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

SMART Domains

Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: D247G

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: ENSMUST00000197051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199763

Predicted Effect

probably damaging
Transcript: ENSMUST00000200335
AA Change: D247G

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

SMART Domains

Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: D247G

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

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	A	T	14: 49,232,946	L172H	probably damaging	Het
Agl	A	T	3: 116,772,496	F992I	probably damaging	Het
Ampd1	T	C	3: 103,085,397	F152L	probably damaging	Het
Ank2	T	C	3: 127,012,686	H602R	possibly damaging	Het
Bccip	T	A	7: 133,720,865	H313Q	probably benign	Het
Ccdc94	G	A	17: 55,962,030	C46Y	probably damaging	Het
Cep250	A	G	2: 155,979,277	E929G	probably damaging	Het
Chl1	C	A	6: 103,709,191	L954I	probably benign	Het
Cog5	A	T	12: 31,660,717	D32V	probably benign	Het
Cyp4f16	C	A	17: 32,544,142	A187E	probably benign	Het
Dffb	A	T	4: 153,965,593	V271E	probably damaging	Het
Dnah8	A	G	17: 30,851,630	Y4430C	possibly damaging	Het
Dpp3	T	C	19: 4,918,357	E229G	probably benign	Het
Fat3	T	A	9: 15,998,317	N2130Y	probably benign	Het
Gm13128	G	T	4: 144,332,753	V345F	probably damaging	Het
Kcnk3	T	C	5: 30,588,378	V21A	possibly damaging	Het
Kif9	G	A	9: 110,490,026	S186N	probably benign	Het
Lhfpl3	C	A	5: 22,746,426	N78K	probably benign	Het
Ly6c1	A	G	15: 75,045,608	S64P	probably damaging	Het
Mapk10	T	C	5: 103,038,580	T59A	probably benign	Het
Mars	A	T	10: 127,304,302	C394*	probably null	Het
Mettl16	T	A	11: 74,792,237	D168E	possibly damaging	Het
Mgat2	A	T	12: 69,185,384	Q244L	probably benign	Het
Mrps30	A	G	13: 118,384,565		probably null	Het
Myrip	C	A	9: 120,461,421	A702E	probably damaging	Het
Nepn	T	C	10: 52,404,072	L420P	probably damaging	Het
Nrn1	A	T	13: 36,734,264	Y9*	probably null	Het
Nup107	T	C	10: 117,759,176	Y752C	probably damaging	Het
Nutm2	A	T	13: 50,474,460	D520V	probably damaging	Het
Olfm2	C	T	9: 20,675,650	C48Y	probably damaging	Het
Olfr27	A	G	9: 39,144,982	N294S	probably null	Het
Olfr592	T	C	7: 103,187,528	F309S	possibly damaging	Het
Osbpl1a	T	A	18: 12,905,081	D271V	probably damaging	Het
Osmr	G	T	15: 6,844,453	D154E	probably benign	Het
Pcdh9	A	G	14: 93,887,048	V562A	probably damaging	Het
Peak1	A	C	9: 56,259,442	S401A	probably benign	Het
Pigk	A	T	3: 152,740,849	H195L	probably benign	Het
Plekha6	G	C	1: 133,272,307	R208P	possibly damaging	Het
Ppp2r1a	C	T	17: 20,951,346	R28C	probably damaging	Het
Ptbp3	T	C	4: 59,493,311	D123G	probably benign	Het
Ptgr2	G	A	12: 84,308,346	E285K	possibly damaging	Het
Rassf1	G	T	9: 107,551,822	V76L	possibly damaging	Het
Sec22a	A	G	16: 35,314,091	V307A	probably damaging	Het
Skint5	C	T	4: 113,995,648	V18I	probably benign	Het
Slc1a5	T	C	7: 16,782,226	V109A	probably benign	Het
St8sia5	T	A	18: 77,254,782	M396K	possibly damaging	Het
Tiam1	T	C	16: 89,789,186	E602G	probably benign	Het
Tll1	T	C	8: 64,074,263	E408G	probably damaging	Het
Tpsb2	G	A	17: 25,367,134	V109M	probably benign	Het
Trib1	T	A	15: 59,654,602		probably null	Het
Trio	G	T	15: 27,851,933	A765E	possibly damaging	Het
Uggt2	A	T	14: 119,049,426	V193E	probably damaging	Het
Vmn1r115	G	A	7: 20,844,522	P155L	probably benign	Het
Wdr31	A	G	4: 62,455,876	L292S	probably benign	Het
Xrra1	T	C	7: 99,876,255	I127T	probably benign	Het
Zfp442	G	A	2: 150,408,024	Q596*	probably null	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GATTTACAGCCACTGCATGC -3'
(R):5'- GAGTCCACTCACATCTGCAC -3'

Sequencing Primer
(F):5'- AACATGTGCACAGAAATTATGTAGGC -3'
(R):5'- CTGCACACAACCTGGGATGTTAAG -3'

Posted On

2017-06-26