Mutagenetix > Incidental Mutation

Incidental Mutation 'R7517:Ankrd28'

582535

Institutional Source

Beutler Lab

Gene Symbol

Ankrd28

Ensembl Gene

ENSMUSG00000014496

Gene Name

ankyrin repeat domain 28

Synonyms

E430019N21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R7517 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31698768-31830651 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31715374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 578 (V578E)

Ref Sequence

ENSEMBL: ENSMUSP00000014640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014640] [ENSMUST00000227089] [ENSMUST00000227863]

AlphaFold

Q505D1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014640
AA Change: V578E

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: V578E

Domain	Start	End	E-Value	Type
ANK	7	36	5.69e2	SMART
ANK	40	69	2.45e-4	SMART
ANK	73	102	1.59e-3	SMART
ANK	106	135	1.09e-1	SMART
ANK	139	168	1.58e-7	SMART
ANK	172	201	4.97e-5	SMART
ANK	205	234	1.01e-5	SMART
ANK	238	267	2.74e-7	SMART
ANK	271	301	4.13e-2	SMART
ANK	305	334	3.8e-1	SMART
ANK	338	367	3.06e-5	SMART
ANK	371	400	1.44e-1	SMART
ANK	404	433	6.76e-7	SMART
ANK	437	466	1.73e-4	SMART
ANK	470	500	7.83e-3	SMART
ANK	504	534	2.99e1	SMART
ANK	549	578	1.34e-1	SMART
ANK	582	611	3.76e-5	SMART
ANK	616	645	4.13e-2	SMART
ANK	652	681	1.24e-5	SMART
ANK	685	714	4.5e-3	SMART
ANK	718	747	1.93e-2	SMART
ANK	755	784	2.85e-5	SMART
ANK	787	818	2.15e0	SMART
ANK	822	851	2.16e-5	SMART
ANK	855	885	4.5e-3	SMART
ANK	889	918	6.61e-1	SMART
ANK	925	954	3.85e-2	SMART
low complexity region	982	995	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227089
AA Change: V424E

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227863
AA Change: V608E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	A	T	7: 16,562,207	C978S	probably benign	Het
Asph	A	T	4: 9,517,697	V475E	probably damaging	Het
Atf7ip2	T	A	16: 10,241,535		probably null	Het
Bace1	A	T	9: 45,860,261	D491V	probably benign	Het
Birc2	A	G	9: 7,819,423	I496T	probably benign	Het
Cacna2d4	C	T	6: 119,271,921	R448C	probably benign	Het
Ccdc181	T	C	1: 164,280,420	F224S	probably damaging	Het
Cdan1	C	T	2: 120,727,924	R469Q	probably damaging	Het
Ddx21	G	A	10: 62,588,790	P544L	probably damaging	Het
Epas1	C	A	17: 86,831,098	T874N	possibly damaging	Het
Fam13b	A	T	18: 34,494,607	D180E	probably damaging	Het
Fcgbp	G	A	7: 28,085,369	V285M	probably damaging	Het
Gcn1l1	T	G	5: 115,619,696	L2487V	probably benign	Het
Gm19410	C	T	8: 35,773,618	A216V	possibly damaging	Het
Gm4871	G	T	5: 145,032,620	R30S	probably damaging	Het
Gtf2ird1	T	C	5: 134,362,525	D899G	probably benign	Het
Hipk3	T	C	2: 104,434,714	T674A	probably benign	Het
Hnrnph3	A	G	10: 63,018,895	L39S	unknown	Het
Ift122	T	C	6: 115,890,582	V431A	probably benign	Het
Il1f8	A	G	2: 24,159,878	H167R	probably benign	Het
Lce3e	T	A	3: 92,967,835	C33S	unknown	Het
Lrrc26	T	C	2: 25,290,533	I182T	probably benign	Het
Magi1	T	C	6: 93,708,208	R730G	probably damaging	Het
Meis3	G	T	7: 16,177,818	V102F	probably damaging	Het
Mpp7	G	A	18: 7,440,183	Q263*	probably null	Het
Myo7b	A	T	18: 32,013,267	I155N	probably damaging	Het
Nrip1	A	T	16: 76,291,184	*1162K	probably null	Het
Olfr1104	A	C	2: 87,022,142	V134G	probably benign	Het
Olfr1300-ps1	T	C	2: 111,692,099	F194L	unknown	Het
Olfr401	T	A	11: 74,121,509	D73E	probably damaging	Het
Pdik1l	T	A	4: 134,278,425	E326V	possibly damaging	Het
Phrf1	T	C	7: 141,256,610	M265T	unknown	Het
Piezo2	A	T	18: 63,082,925	N1222K	possibly damaging	Het
Pkd1	G	A	17: 24,580,419	V2871M	probably damaging	Het
Pon2	T	G	6: 5,268,997	N226H	possibly damaging	Het
Rftn2	G	T	1: 55,195,549	D338E	probably damaging	Het
Rnf123	A	T	9: 108,070,274	Y171*	probably null	Het
Ror2	A	T	13: 53,110,865	N730K	possibly damaging	Het
Serpinb6c	T	A	13: 33,895,295	N138I	probably damaging	Het
Smco1	A	T	16: 32,273,967	H152L	possibly damaging	Het
Tgm3	T	G	2: 130,041,764	S447R	probably benign	Het
Topbp1	A	G	9: 103,332,733	K860E	possibly damaging	Het
Uba7	C	A	9: 107,976,698		probably benign	Het
Ucp3	A	G	7: 100,481,882	N181D	probably damaging	Het
Unc13b	C	A	4: 43,215,765	S21R	probably benign	Het
Usp34	T	A	11: 23,446,968	S2395R		Het

Other mutations in Ankrd28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Ankrd28	APN	14	31743365	missense	possibly damaging	0.94
IGL01335:Ankrd28	APN	14	31702024	missense	probably damaging	0.99
IGL01564:Ankrd28	APN	14	31755767	missense	probably damaging	1.00
IGL01624:Ankrd28	APN	14	31710857	missense	probably benign	0.00
IGL01987:Ankrd28	APN	14	31778974	missense	probably damaging	1.00
IGL02100:Ankrd28	APN	14	31727625	unclassified	probably benign
IGL02307:Ankrd28	APN	14	31733708	missense	probably damaging	1.00
IGL02656:Ankrd28	APN	14	31702240	missense	possibly damaging	0.94
IGL03069:Ankrd28	APN	14	31755786	nonsense	probably null
G1citation:Ankrd28	UTSW	14	31736840	critical splice acceptor site	probably null
R0038:Ankrd28	UTSW	14	31708035	missense	probably damaging	0.99
R0038:Ankrd28	UTSW	14	31708035	missense	probably damaging	0.99
R0124:Ankrd28	UTSW	14	31727741	missense	probably damaging	1.00
R0347:Ankrd28	UTSW	14	31702022	makesense	probably null
R0452:Ankrd28	UTSW	14	31748738	missense	probably damaging	1.00
R0685:Ankrd28	UTSW	14	31743450	unclassified	probably benign
R0751:Ankrd28	UTSW	14	31764268	missense	probably damaging	1.00
R1349:Ankrd28	UTSW	14	31745261	missense	probably benign	0.05
R1372:Ankrd28	UTSW	14	31745261	missense	probably benign	0.05
R1695:Ankrd28	UTSW	14	31707244	missense	probably damaging	1.00
R1888:Ankrd28	UTSW	14	31732025	splice site	probably benign
R1938:Ankrd28	UTSW	14	31705276	missense	possibly damaging	0.74
R2001:Ankrd28	UTSW	14	31745336	missense	possibly damaging	0.94
R2162:Ankrd28	UTSW	14	31708762	missense	probably damaging	1.00
R2352:Ankrd28	UTSW	14	31710947	missense	probably benign	0.05
R2357:Ankrd28	UTSW	14	31764294	nonsense	probably null
R3545:Ankrd28	UTSW	14	31715260	missense	probably benign	0.13
R3548:Ankrd28	UTSW	14	31715260	missense	probably benign	0.13
R3710:Ankrd28	UTSW	14	31748851	splice site	probably benign
R4282:Ankrd28	UTSW	14	31745225	missense	possibly damaging	0.74
R4501:Ankrd28	UTSW	14	31706796	missense	probably damaging	0.97
R4513:Ankrd28	UTSW	14	31743285	missense	probably damaging	1.00
R4658:Ankrd28	UTSW	14	31710868	missense	probably damaging	1.00
R4731:Ankrd28	UTSW	14	31755741	missense	probably benign	0.43
R4732:Ankrd28	UTSW	14	31755741	missense	probably benign	0.43
R4733:Ankrd28	UTSW	14	31755741	missense	probably benign	0.43
R4776:Ankrd28	UTSW	14	31732054	missense	probably damaging	1.00
R4801:Ankrd28	UTSW	14	31736830	missense	probably damaging	1.00
R4802:Ankrd28	UTSW	14	31736830	missense	probably damaging	1.00
R5279:Ankrd28	UTSW	14	31735006	missense	probably damaging	0.99
R5633:Ankrd28	UTSW	14	31735065	missense	probably damaging	1.00
R5809:Ankrd28	UTSW	14	31743354	missense	probably benign	0.19
R5959:Ankrd28	UTSW	14	31729922	missense	probably benign	0.16
R6228:Ankrd28	UTSW	14	31707220	missense	probably damaging	1.00
R6358:Ankrd28	UTSW	14	31710864	missense	probably damaging	1.00
R6533:Ankrd28	UTSW	14	31732084	missense	possibly damaging	0.49
R6598:Ankrd28	UTSW	14	31708939	missense	probably damaging	1.00
R6822:Ankrd28	UTSW	14	31736840	critical splice acceptor site	probably null
R7352:Ankrd28	UTSW	14	31708041	missense	probably damaging	1.00
R7396:Ankrd28	UTSW	14	31702202	missense	probably benign	0.00
R7462:Ankrd28	UTSW	14	31778929	missense	probably benign	0.40
R7629:Ankrd28	UTSW	14	31715264	missense	probably benign	0.00
R7783:Ankrd28	UTSW	14	31706813	missense	probably damaging	0.99
R7981:Ankrd28	UTSW	14	31702157	missense	probably benign	0.08
R8401:Ankrd28	UTSW	14	31745294	missense	probably damaging	1.00
R8483:Ankrd28	UTSW	14	31735091	splice site	probably null
R8752:Ankrd28	UTSW	14	31755742	start gained	probably benign
R8946:Ankrd28	UTSW	14	31708126	missense	probably damaging	1.00
R8963:Ankrd28	UTSW	14	31755741	missense	probably benign	0.06
R9064:Ankrd28	UTSW	14	31732048	missense	probably damaging	1.00
R9181:Ankrd28	UTSW	14	31748670	missense	probably damaging	1.00
R9231:Ankrd28	UTSW	14	31707277	missense	possibly damaging	0.91
RF010:Ankrd28	UTSW	14	31778986	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACCAGGAGCAGTACTAAAAGAAT -3'
(R):5'- TGCAGTAGGGTAGTGGACAT -3'

Sequencing Primer
(F):5'- GCATGGATAGGTGTTCTCT -3'
(R):5'- GTAGTGGACATGTAACTCTAGTAGAC -3'

Posted On

2019-10-17