Mutagenetix > Incidental Mutations

Incidental Mutation 'R7629:Ankrd28'

589564

Institutional Source

Beutler Lab

Gene Symbol

Ankrd28

Ensembl Gene

ENSMUSG00000014496

Gene Name

ankyrin repeat domain 28

Synonyms

E430019N21Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.412) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31698768-31830651 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31715264 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 615 (V615I)

Ref Sequence

ENSEMBL: ENSMUSP00000014640 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000014640
AA Change: V615I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: V615I

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

probably benign
Transcript: ENSMUST00000227089
AA Change: V461I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000227863
AA Change: V645I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,707,405	T168I	probably benign	Het
2410089E03Rik	C	T	15: 8,227,067	Q2004*	probably null	Het
Abtb2	T	A	2: 103,683,493		probably null	Het
Ankrd10	A	T	8: 11,615,769	V277E	probably benign	Het
Aqr	G	A	2: 114,114,593	P1079L	probably damaging	Het
Brox	G	A	1: 183,292,504	A60V	probably damaging	Het
Copg1	T	C	6: 87,894,169	V289A	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
D430042O09Rik	T	C	7: 125,795,250	L192P	probably damaging	Het
Dido1	T	C	2: 180,661,473	N1546S	probably benign	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,859,270	I361N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,754,317	D88E	probably benign	Het
Flywch1	A	G	17: 23,755,770	M632T	probably benign	Het
Henmt1	A	G	3: 108,958,597	T213A	probably benign	Het
Itga9	T	C	9: 118,698,446	V555A	probably benign	Het
Kif13b	C	T	14: 64,779,335	R1317*	probably null	Het
Kndc1	A	T	7: 139,895,260	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,361,164	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,214,257		probably null	Het
Mgat4c	G	A	10: 102,389,070	V382I	probably benign	Het
Mpp6	T	C	6: 50,196,623	I489T	probably benign	Het
Muc16	T	C	9: 18,566,785	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,627,254		probably null	Het
Neb	T	C	2: 52,273,961	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,050,694	V75A	possibly damaging	Het
Olfr1277	C	T	2: 111,269,876	V164I	probably benign	Het
Paf1	T	C	7: 28,395,068	Y35H	probably damaging	Het
Panx3	T	A	9: 37,661,444	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,959,319	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,445,006	I200T	probably benign	Het
Ppara	A	T	15: 85,798,191	M363L	probably damaging	Het
Prmt8	A	T	6: 127,689,883	L376*	probably null	Het
Serpina1a	G	C	12: 103,853,808	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,093,022	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,848,395	W7R	possibly damaging	Het
Skint5	T	C	4: 113,942,660	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,936,624	T195S	probably damaging	Het
Slc2a6	T	C	2: 27,024,202	D301G	probably benign	Het
Stab2	A	T	10: 86,883,782		probably null	Het
Tctn3	C	G	19: 40,611,336	D141H	probably damaging	Het
Tnik	A	G	3: 28,661,728	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,537,937	V711I	probably benign	Het
Trim11	G	A	11: 58,978,334	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 85,019,855		probably null	Het
Vmn1r72	T	C	7: 11,669,784	I246V	probably benign	Het
Zfp362	G	T	4: 128,786,055	R273S	probably damaging	Het
Zfp715	T	C	7: 43,301,676	D66G	possibly damaging	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
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
R7517:Ankrd28	UTSW	14	31715374	missense	possibly damaging	0.65
R7783:Ankrd28	UTSW	14	31706813	missense	probably damaging	0.99
RF010:Ankrd28	UTSW	14	31778986	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGTCCTTGCAGAAGTTAACATTC -3'
(R):5'- TCATGGTCACCATCAAGCC -3'

Sequencing Primer
(F):5'- CCTCTATTAGGGCTAACAGATGG -3'
(R):5'- CATCAAGCCCTGGAAGTGTTG -3'

Posted On

2019-10-24