Mutagenetix > Incidental Mutation

Incidental Mutation 'R7380:Ankib1'

572623

Institutional Source

Beutler Lab

Gene Symbol

Ankib1

Ensembl Gene

ENSMUSG00000040351

Gene Name

ankyrin repeat and IBR domain containing 1

Synonyms

2310061P20Rik, 4631416I11Rik

MMRRC Submission

045462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3740000-3852925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3772576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 487 (Q487K)

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: Q487K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: Q487K

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
AA Change: Q487K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: Q487K

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: 98.8%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 117,700,376 (GRCm39)	T9A	probably benign	Het
Abcc5	A	T	16: 20,215,784 (GRCm39)	S414R	possibly damaging	Het
Acads	C	A	5: 115,249,057 (GRCm39)	Q365H	probably damaging	Het
BC034090	T	G	1: 155,108,229 (GRCm39)	S11R	probably damaging	Het
Car12	A	G	9: 66,654,945 (GRCm39)	N125S	probably benign	Het
Casq1	A	G	1: 172,044,416 (GRCm39)	V137A	probably benign	Het
Cfap54	C	A	10: 92,883,840 (GRCm39)	V305F	probably damaging	Het
Clstn3	T	C	6: 124,433,948 (GRCm39)	E404G	probably benign	Het
Copg1	T	G	6: 87,870,824 (GRCm39)	L209R	probably damaging	Het
Cpb2	A	T	14: 75,493,449 (GRCm39)	Q42L	possibly damaging	Het
Cpd	G	A	11: 76,693,151 (GRCm39)	Q712*	probably null	Het
Csmd3	T	A	15: 47,450,361 (GRCm39)	Y2690F		Het
Dchs1	G	T	7: 105,407,835 (GRCm39)	T1999K	probably benign	Het
Ddx10	T	A	9: 53,151,786 (GRCm39)	T80S	probably damaging	Het
Dmtn	G	A	14: 70,854,768 (GRCm39)	T69I	probably damaging	Het
Dnah5	T	A	15: 28,370,524 (GRCm39)	H2821Q	probably damaging	Het
Fam162b	T	A	10: 51,466,572 (GRCm39)		probably benign	Het
Fam193b	A	C	13: 55,690,612 (GRCm39)	S717A	probably benign	Het
Far2	T	C	6: 148,082,493 (GRCm39)	F500L	unknown	Het
Focad	T	A	4: 88,192,435 (GRCm39)	V588D	unknown	Het
Gm12728	T	C	4: 105,651,593 (GRCm39)	F68L	probably damaging	Het
Gm1527	T	A	3: 28,974,621 (GRCm39)	M478K	probably benign	Het
Gm57858	T	A	3: 36,080,070 (GRCm39)	D229V	possibly damaging	Het
Gpd2	A	T	2: 57,230,171 (GRCm39)	I308F	probably damaging	Het
Igf2bp3	T	C	6: 49,085,933 (GRCm39)	T249A	probably benign	Het
Igfn1	C	A	1: 135,889,746 (GRCm39)	V2434F	probably damaging	Het
Inhca	G	A	9: 103,156,680 (GRCm39)	Q127*	probably null	Het
Kdm5a	C	A	6: 120,382,879 (GRCm39)	Q737K	probably benign	Het
Khdrbs2	T	C	1: 32,372,685 (GRCm39)	S120P	unknown	Het
Lmx1a	T	C	1: 167,519,609 (GRCm39)	F46L	probably damaging	Het
Lrba	C	G	3: 86,232,381 (GRCm39)	T776R	probably damaging	Het
Lrrc8c	A	G	5: 105,755,701 (GRCm39)	N492S	possibly damaging	Het
Mapk3	A	T	7: 126,363,967 (GRCm39)	I365F		Het
Mcee	A	G	7: 64,061,657 (GRCm39)	I153M	possibly damaging	Het
Mllt3	T	C	4: 87,710,180 (GRCm39)	D415G	possibly damaging	Het
Muc4	A	T	16: 32,575,740 (GRCm39)	T1747S	unknown	Het
Myh14	A	T	7: 44,310,466 (GRCm39)	V139E	probably damaging	Het
Myo10	A	T	15: 25,779,706 (GRCm39)	I772L	probably benign	Het
Naa15	T	G	3: 51,367,268 (GRCm39)		probably null	Het
Nbeal1	T	A	1: 60,283,969 (GRCm39)	I841N	probably damaging	Het
Nf1	C	T	11: 79,437,102 (GRCm39)	T2006I	probably damaging	Het
Npr2	T	A	4: 43,641,254 (GRCm39)	W427R	probably damaging	Het
Nr1h3	A	T	2: 91,020,540 (GRCm39)	F324L	possibly damaging	Het
Obscn	T	C	11: 58,947,740 (GRCm39)	K4430E		Het
Or1e1d-ps1	T	A	11: 73,819,013 (GRCm39)	Y61N	possibly damaging	Het
Or5ac21	A	G	16: 59,124,391 (GRCm39)	R292G	probably damaging	Het
Or6c2	A	T	10: 129,362,530 (GRCm39)	T145S	probably benign	Het
Or6d13	T	C	6: 116,517,894 (GRCm39)	L160P	probably benign	Het
Osgin1	T	A	8: 120,172,170 (GRCm39)	H321Q	probably benign	Het
P4ha1	A	G	10: 59,186,273 (GRCm39)	I251V	probably benign	Het
Padi2	G	A	4: 140,644,997 (GRCm39)	W77*	probably null	Het
Pkd1	T	A	17: 24,800,616 (GRCm39)	I3086N	probably damaging	Het
Plk3	T	C	4: 116,988,350 (GRCm39)	N360S	probably benign	Het
Prr14	A	T	7: 127,075,614 (GRCm39)	S541C	probably null	Het
Ptch2	C	A	4: 116,971,843 (GRCm39)	Q1122K	possibly damaging	Het
Rab3gap1	T	C	1: 127,865,727 (GRCm39)	V764A	possibly damaging	Het
Rad50	T	C	11: 53,586,223 (GRCm39)	I258V	probably benign	Het
Rapgef3	G	T	15: 97,664,672 (GRCm39)	R64S	probably benign	Het
Rbm44	A	G	1: 91,079,938 (GRCm39)	N42S	possibly damaging	Het
Ring1	T	C	17: 34,240,694 (GRCm39)	Y361C	probably damaging	Het
Robo3	T	C	9: 37,329,852 (GRCm39)	T1155A	probably damaging	Het
Rsf1	GGCGG	GGCGGTGGCCGCGG	7: 97,229,122 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,470,502 (GRCm39)	T4682A	probably damaging	Het
Scart1	A	T	7: 139,804,790 (GRCm39)	N598Y	possibly damaging	Het
Sema7a	T	C	9: 57,868,847 (GRCm39)	V653A	unknown	Het
Slc16a13	T	C	11: 70,110,105 (GRCm39)	Y132C	probably damaging	Het
Slc24a1	A	G	9: 64,855,815 (GRCm39)	V364A	unknown	Het
Slc8a2	C	T	7: 15,868,278 (GRCm39)	A170V	probably damaging	Het
Slfn8	C	T	11: 82,894,566 (GRCm39)	R691Q	not run	Het
Snx2	T	C	18: 53,327,640 (GRCm39)	V122A	probably benign	Het
Sstr1	A	T	12: 58,260,066 (GRCm39)	M230L	probably benign	Het
Themis2	C	T	4: 132,513,528 (GRCm39)	V233I	possibly damaging	Het
Tmem106b	T	C	6: 13,078,167 (GRCm39)	S121P	probably damaging	Het
Tmem63c	A	G	12: 87,124,722 (GRCm39)	I529V	probably benign	Het
Tmem94	T	C	11: 115,686,971 (GRCm39)		probably null	Het
Trmt10c	A	T	16: 55,854,619 (GRCm39)	W339R	probably damaging	Het
Ugt2b1	A	T	5: 87,065,578 (GRCm39)	F487Y	not run	Het
Vmn2r91	T	A	17: 18,356,838 (GRCm39)	L835*	probably null	Het
Vps52	C	A	17: 34,177,283 (GRCm39)	N108K	possibly damaging	Het
Wdpcp	T	A	11: 21,661,585 (GRCm39)	C286S	possibly damaging	Het
Zfp959	T	A	17: 56,205,551 (GRCm39)	H529Q	possibly damaging	Het

Other mutations in Ankib1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Ankib1	APN	5	3,777,573 (GRCm39)	missense	probably benign	0.20
IGL01329:Ankib1	APN	5	3,784,194 (GRCm39)	splice site	probably benign
IGL01372:Ankib1	APN	5	3,822,594 (GRCm39)	missense	probably damaging	1.00
IGL01593:Ankib1	APN	5	3,782,590 (GRCm39)	missense	probably benign	0.00
IGL01613:Ankib1	APN	5	3,763,146 (GRCm39)	nonsense	probably null
IGL01728:Ankib1	APN	5	3,751,992 (GRCm39)	splice site	probably benign
IGL01782:Ankib1	APN	5	3,777,607 (GRCm39)	missense	probably damaging	1.00
IGL01878:Ankib1	APN	5	3,784,152 (GRCm39)	missense	possibly damaging	0.69
IGL02730:Ankib1	APN	5	3,752,995 (GRCm39)	missense	probably damaging	1.00
IGL02742:Ankib1	APN	5	3,743,479 (GRCm39)	missense	probably benign	0.04
IGL02873:Ankib1	APN	5	3,822,619 (GRCm39)	missense	probably damaging	1.00
R0033:Ankib1	UTSW	5	3,819,588 (GRCm39)	missense	possibly damaging	0.52
R0242:Ankib1	UTSW	5	3,750,344 (GRCm39)	splice site	probably benign
R0564:Ankib1	UTSW	5	3,779,655 (GRCm39)	missense	probably damaging	0.99
R0632:Ankib1	UTSW	5	3,822,529 (GRCm39)	missense	probably benign	0.02
R0732:Ankib1	UTSW	5	3,763,163 (GRCm39)	missense	possibly damaging	0.89
R1678:Ankib1	UTSW	5	3,756,301 (GRCm39)	missense	probably damaging	0.99
R1816:Ankib1	UTSW	5	3,784,028 (GRCm39)	missense	probably benign	0.05
R2165:Ankib1	UTSW	5	3,763,210 (GRCm39)	missense	possibly damaging	0.69
R3434:Ankib1	UTSW	5	3,742,760 (GRCm39)	missense	probably damaging	1.00
R3749:Ankib1	UTSW	5	3,784,097 (GRCm39)	missense	probably damaging	0.98
R4745:Ankib1	UTSW	5	3,782,566 (GRCm39)	missense	probably damaging	1.00
R4827:Ankib1	UTSW	5	3,751,907 (GRCm39)	missense	probably damaging	1.00
R4983:Ankib1	UTSW	5	3,819,652 (GRCm39)	missense	probably benign	0.09
R4989:Ankib1	UTSW	5	3,763,217 (GRCm39)	missense	probably damaging	0.99
R5022:Ankib1	UTSW	5	3,784,011 (GRCm39)	missense	possibly damaging	0.96
R5057:Ankib1	UTSW	5	3,784,011 (GRCm39)	missense	possibly damaging	0.96
R5510:Ankib1	UTSW	5	3,779,693 (GRCm39)	missense	probably benign	0.02
R5606:Ankib1	UTSW	5	3,751,907 (GRCm39)	missense	probably damaging	1.00
R5910:Ankib1	UTSW	5	3,743,217 (GRCm39)	missense	probably benign
R5929:Ankib1	UTSW	5	3,819,633 (GRCm39)	missense	possibly damaging	0.86
R5986:Ankib1	UTSW	5	3,797,071 (GRCm39)	missense	probably damaging	1.00
R6281:Ankib1	UTSW	5	3,751,965 (GRCm39)	missense	possibly damaging	0.70
R6336:Ankib1	UTSW	5	3,750,377 (GRCm39)	nonsense	probably null
R6377:Ankib1	UTSW	5	3,743,855 (GRCm39)	missense	possibly damaging	0.78
R7001:Ankib1	UTSW	5	3,744,781 (GRCm39)	missense	probably benign
R7264:Ankib1	UTSW	5	3,805,739 (GRCm39)	missense	probably damaging	1.00
R7402:Ankib1	UTSW	5	3,819,586 (GRCm39)	missense	probably benign	0.01
R7491:Ankib1	UTSW	5	3,751,911 (GRCm39)	missense	probably damaging	1.00
R7525:Ankib1	UTSW	5	3,805,734 (GRCm39)	missense	possibly damaging	0.95
R7562:Ankib1	UTSW	5	3,797,021 (GRCm39)	missense	probably null	1.00
R8116:Ankib1	UTSW	5	3,752,995 (GRCm39)	missense	probably damaging	1.00
R8347:Ankib1	UTSW	5	3,797,065 (GRCm39)	missense	probably damaging	1.00
R8712:Ankib1	UTSW	5	3,822,643 (GRCm39)	missense	probably benign	0.03
R8750:Ankib1	UTSW	5	3,752,890 (GRCm39)	critical splice donor site	probably null
R8854:Ankib1	UTSW	5	3,777,489 (GRCm39)	missense	probably null	0.97
R9032:Ankib1	UTSW	5	3,819,641 (GRCm39)	missense	probably benign	0.16
R9180:Ankib1	UTSW	5	3,756,276 (GRCm39)	missense	probably damaging	1.00
R9325:Ankib1	UTSW	5	3,822,523 (GRCm39)	missense	possibly damaging	0.81
R9474:Ankib1	UTSW	5	3,805,617 (GRCm39)	missense	probably damaging	0.98
R9504:Ankib1	UTSW	5	3,763,235 (GRCm39)	missense	probably benign
R9564:Ankib1	UTSW	5	3,805,733 (GRCm39)	missense	possibly damaging	0.87
Z1088:Ankib1	UTSW	5	3,763,137 (GRCm39)	nonsense	probably null
Z1088:Ankib1	UTSW	5	3,763,136 (GRCm39)	missense	probably damaging	1.00
Z1176:Ankib1	UTSW	5	3,742,763 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGTATAAACCCACCTCCGAGG -3'
(R):5'- TCACTGAGGTGCTTCTGTCC -3'

Sequencing Primer
(F):5'- TCCGAGGCCAGGGTGAAC -3'
(R):5'- TTTCCATCAGTAGTGCCCAAAG -3'

Posted On

2019-09-13