Mutagenetix > Incidental Mutation

Incidental Mutation 'R8750:Ankib1'

663758

Institutional Source

Beutler Lab

Gene Symbol

Ankib1

Ensembl Gene

ENSMUSG00000040351

Gene Name

ankyrin repeat and IBR domain containing 1

Synonyms

2310061P20Rik, 4631416I11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8750 (G1)

Quality Score

199.009

Status

Not validated

Chromosome

Chromosomal Location

3690000-3802925 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 3702890 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040946 (fasta)

Gene Model

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

AlphaFold

Q6ZPS6

Predicted Effect

probably null
Transcript: ENSMUST00000043551

SMART Domains

Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351

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

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,560,473	Q172*	probably null	Het
Avpr1b	C	T	1: 131,599,936	R66C	probably damaging	Het
Bbs7	A	T	3: 36,607,595	C152S	possibly damaging	Het
Cacna1a	C	A	8: 84,559,155	R810S	probably damaging	Het
Ccdc17	G	A	4: 116,599,932	A538T	possibly damaging	Het
Cd93	T	C	2: 148,443,160	M89V	probably benign	Het
Clec11a	G	T	7: 44,305,899	D157E	probably benign	Het
Crtam	A	C	9: 40,984,345	D228E	probably benign	Het
Cyp2a4	A	G	7: 26,312,784	I331V	probably benign	Het
Cysltr2	T	C	14: 73,029,638	I211V	probably benign	Het
Dcaf13	T	C	15: 39,119,441	S123P	probably damaging	Het
Dctn1	T	G	6: 83,183,126	V116G	possibly damaging	Het
Dmrt3	G	A	19: 25,611,186	A130T	probably benign	Het
Dnah1	A	T	14: 31,304,967	L700Q	probably benign	Het
Dnajc1	T	C	2: 18,308,834	T159A	probably damaging	Het
Dpyd	C	T	3: 119,141,936	S670L	probably damaging	Het
Dsg2	A	T	18: 20,575,012	I57F	possibly damaging	Het
Dzip3	A	C	16: 48,980,975	I62S	probably damaging	Het
Ern1	A	T	11: 106,421,950	S202T	probably damaging	Het
Foxm1	T	A	6: 128,373,243	C517*	probably null	Het
Galnt16	G	A	12: 80,598,105	V501I	probably benign	Het
Gmip	A	T	8: 69,820,484	R840S	probably benign	Het
Gna14	A	C	19: 16,608,094	I279L		Het
Irak2	T	C	6: 113,686,822	M444T	probably benign	Het
Itfg2	T	C	6: 128,412,792		probably null	Het
Kif5a	T	A	10: 127,248,040	H94L	probably damaging	Het
Kmt2e	A	G	5: 23,493,217	T636A	probably benign	Het
Krba1	T	C	6: 48,405,278	S152P	probably damaging	Het
Mad1l1	T	A	5: 140,315,067	M25L	probably benign	Het
Map7d1	T	C	4: 126,238,522	N286D	probably benign	Het
Mfrp	A	G	9: 44,103,505	K280E	probably benign	Het
Mlh3	G	T	12: 85,261,714	L1100I	probably damaging	Het
Mrgprx2	T	C	7: 48,482,030	I347V	probably benign	Het
Mtnr1b	A	T	9: 15,874,428	C11*	probably null	Het
Mx1	T	C	16: 97,451,717	E401G	probably damaging	Het
Mypn	T	C	10: 63,167,257	D367G	probably benign	Het
Olfr1013	T	A	2: 85,769,963	L54H	probably damaging	Het
Olfr281	T	G	15: 98,457,048	I246R	probably damaging	Het
Olfr622	T	A	7: 103,639,852	D96V	probably damaging	Het
Olfr785	T	C	10: 129,409,780	V138A	probably benign	Het
Plcb1	T	G	2: 135,335,449	M567R	probably damaging	Het
Plekhd1	A	T	12: 80,706,087	D109V	probably damaging	Het
Polr2e	A	G	10: 80,039,590	I17T	probably benign	Het
Pot1b	T	C	17: 55,666,537	D421G	probably benign	Het
Prkar1b	A	T	5: 139,050,696	W224R	probably damaging	Het
Psmd1	C	A	1: 86,088,863	R490S	probably damaging	Het
Pwp2	A	G	10: 78,177,825	W521R	probably damaging	Het
Rhpn2	C	A	7: 35,376,255	Q286K	probably benign	Het
Rnf103	T	A	6: 71,509,618	M411K	probably benign	Het
Scpep1	A	C	11: 88,944,472	V125G	probably damaging	Het
Serpinb9c	C	T	13: 33,151,810	V248M	probably null	Het
Slc9a3r2	T	C	17: 24,642,259	I176V	probably damaging	Het
Snx15	T	A	19: 6,120,563	N282I	probably benign	Het
Spaca3	A	T	11: 80,867,688	D159V	probably benign	Het
Srrm4	A	G	5: 116,467,508	V230A	unknown	Het
Ssu2	T	A	6: 112,382,351	I103F	possibly damaging	Het
Strip2	T	A	6: 29,931,816	F453I	probably damaging	Het
Tac2	C	T	10: 127,728,450	P72L	possibly damaging	Het
Tiparp	T	G	3: 65,552,704	S473R	probably damaging	Het
Tmem135	C	T	7: 89,307,248	R53Q	probably damaging	Het
Tmem200b	T	A	4: 131,922,095	F109I	probably damaging	Het
Tmem245	A	T	4: 56,886,141	I825N	probably damaging	Het
Tmem63c	G	T	12: 87,056,532	V27F	probably damaging	Het
Tshz1	T	C	18: 84,015,037	I415M	probably damaging	Het
Wfdc2	T	A	2: 164,565,898	N162K	probably damaging	Het
Zcchc11	C	G	4: 108,550,743	A1403G	probably damaging	Het
Zeb2	T	A	2: 44,997,927	I373F	probably damaging	Het
Zfp27	T	C	7: 29,895,379	N387S	possibly damaging	Het
Zfp760	A	T	17: 21,722,375	H177L	possibly damaging	Het
Zg16	A	G	7: 127,050,346	S148P	possibly damaging	Het
Zic2	A	G	14: 122,476,717	N348D	probably benign	Het
Zswim4	A	T	8: 84,212,684	D856E	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
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
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'- TTTCATCTCTGAAGATAAAGCTGCC -3'
(R):5'- CACTGTCCTAAATGTCTTTGTAGC -3'

Sequencing Primer
(F):5'- TGACCAGGTTGAAATAAACTAATGC -3'
(R):5'- CCTAAATGTCTTTGTAGCTGAAGGAG -3'

Posted On

2021-03-08