Mutagenetix > Incidental Mutation

Incidental Mutation 'R4827:Ankib1'

372492

Institutional Source

Beutler Lab

Gene Symbol

Ankib1

Ensembl Gene

ENSMUSG00000040351

Gene Name

ankyrin repeat and IBR domain containing 1

Synonyms

2310061P20Rik, 4631416I11Rik

MMRRC Submission

042443-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3690000-3802925 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3701907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 711 (I711T)

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: I711T

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

SMART Domains

Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: I711T

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: ENSMUST00000199043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200052

Predicted Effect

probably damaging
Transcript: ENSMUST00000200335
AA Change: I711T

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

SMART Domains

Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: I711T

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

Meta Mutation Damage Score

0.7342

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	C	6: 50,595,856	S26A	possibly damaging	Het
4931408C20Rik	T	C	1: 26,685,842	K86E	possibly damaging	Het
Adck1	A	G	12: 88,446,719	R274G	probably benign	Het
Agbl5	T	G	5: 30,895,814	S83R	probably damaging	Het
Arnt	T	A	3: 95,489,913		probably null	Het
Atad2	C	G	15: 58,108,348	V702L	probably benign	Het
B4galnt4	A	G	7: 141,068,479	E636G	probably benign	Het
Btbd2	A	G	10: 80,646,389	I244T	probably damaging	Het
Cenpc1	A	T	5: 86,034,431	N531K	possibly damaging	Het
Ces3b	T	A	8: 105,086,895	M266K	probably benign	Het
Cfap54	A	T	10: 92,902,075		probably benign	Het
Coq8a	A	G	1: 180,167,338	V590A	possibly damaging	Het
Drc7	A	G	8: 95,071,639	Y504C	probably damaging	Het
Elovl4	T	C	9: 83,806,038	M1V	probably null	Het
Exd1	C	T	2: 119,520,326	A485T	probably benign	Het
Fads2	A	G	19: 10,082,594	F239L	probably benign	Het
Gcc2	A	T	10: 58,286,131		probably null	Het
Ggact	C	T	14: 122,891,575	R76H	probably benign	Het
Gm17535	T	A	9: 3,035,786	L218H	probably benign	Het
Gm3739	A	T	14: 7,300,349	F13I	probably damaging	Het
Gm6768	C	T	12: 119,261,794		noncoding transcript	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gng2	T	C	14: 19,875,830	K65E	possibly damaging	Het
Gnmt	A	G	17: 46,727,319	Y94H	possibly damaging	Het
Gzme	C	A	14: 56,119,298	R69M	probably null	Het
Hdc	G	A	2: 126,594,313	P546L	probably benign	Het
Ibtk	C	A	9: 85,728,554	V326F	probably benign	Het
Inpp5b	G	T	4: 124,743,850		probably benign	Het
Kcnh7	A	T	2: 62,716,220	C1006S	probably benign	Het
Kcnk18	A	T	19: 59,219,930	N66I	probably damaging	Het
Lpar6	T	A	14: 73,238,750	N50K	probably damaging	Het
Lrba	G	T	3: 86,360,150	D1716Y	possibly damaging	Het
Ltf	T	A	9: 111,027,377		probably benign	Het
Map3k6	A	G	4: 133,248,849	T794A	possibly damaging	Het
Mcm8	A	G	2: 132,823,254	T217A	probably damaging	Het
Meaf6	A	G	4: 125,102,920	E141G	probably damaging	Het
Mmp13	A	G	9: 7,278,880	T324A	possibly damaging	Het
Msl2	T	G	9: 101,102,151	F575V	probably benign	Het
Nlrp2	A	T	7: 5,328,951	W149R	possibly damaging	Het
Ntng1	C	A	3: 110,135,411	C33F	probably damaging	Het
Nxn	A	G	11: 76,261,592	Y359H	probably benign	Het
Olfml2a	A	C	2: 38,960,021	D583A	probably damaging	Het
Olfr1272	A	T	2: 90,282,203	I124N	probably damaging	Het
Olfr330	A	G	11: 58,529,596	I130T	probably damaging	Het
Olfr392	A	T	11: 73,814,721	Y120*	probably null	Het
Olfr536	A	C	7: 140,503,670	L263R	probably damaging	Het
Olfr616	A	T	7: 103,564,545	S245T	probably damaging	Het
Pcdha4	T	C	18: 36,953,198	S145P	probably damaging	Het
Pcsk2	A	T	2: 143,801,179	K459*	probably null	Het
Pirb	C	T	7: 3,717,603	G299S	probably benign	Het
Plch2	A	G	4: 154,991,113	F653S	probably damaging	Het
Plpp3	T	C	4: 105,230,970	I296T	probably benign	Het
Polr2b	A	G	5: 77,342,551	E846G	probably benign	Het
Ptpro	A	T	6: 137,442,710	N157Y	probably damaging	Het
Ralgapa1	A	G	12: 55,676,437	L1815P	probably damaging	Het
Sap18	A	G	14: 57,798,563	N69D	probably damaging	Het
Sncg	C	A	14: 34,373,327	V74F	probably damaging	Het
Tmem186	A	T	16: 8,635,817	Y193*	probably null	Het
Trrap	A	G	5: 144,800,948	S1045G	probably benign	Het
Tti2	T	G	8: 31,150,970	S41A	probably benign	Het
Unc13c	T	C	9: 73,931,286	E761G	probably damaging	Het
Vamp2	T	A	11: 69,089,811	D68E	probably benign	Het
Vmn1r200	A	T	13: 22,395,095	M14L	probably benign	Het
Vps35	T	A	8: 85,273,557	D480V	possibly damaging	Het
Zfp462	T	C	4: 55,012,213	L1393P	probably damaging	Het
Zfp512	G	A	5: 31,472,814	M274I	probably benign	Het
Znfx1	C	G	2: 167,044,231	G803A	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGGAGAGTTACACAGTGACAGAC -3'
(R):5'- CAGAGGAATGTTGTCTTCTTGC -3'

Sequencing Primer
(F):5'- TCAGCTATCCATATTGTAGGTGTAAG -3'
(R):5'- GCATTCATGATGACTTAACCTACC -3'

Posted On

2016-03-01