Mutagenetix > Incidental Mutations

Incidental Mutation 'R6088:Ankrd17'

486088

Institutional Source

Beutler Lab

Gene Symbol

Ankrd17

Ensembl Gene

ENSMUSG00000055204

Gene Name

ankyrin repeat domain 17

Synonyms

A130069E23Rik, 4933425K22Rik, Gtar

MMRRC Submission

044245-MU

Accession Numbers

Genbank: NM_030886, NM_198010; MGI: 1932101

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90227166-90366577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90253688 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1605 (E1605K)

Ref Sequence

ENSEMBL: ENSMUSP00000128960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014421] [ENSMUST00000081914] [ENSMUST00000168058] [ENSMUST00000197021] [ENSMUST00000218526]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014421
AA Change: E1606K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000014421
Gene: ENSMUSG00000055204
AA Change: E1606K

Domain	Start	End	E-Value	Type
low complexity region	6	40	N/A	INTRINSIC
low complexity region	55	71	N/A	INTRINSIC
low complexity region	82	130	N/A	INTRINSIC
ANK	229	258	8.62e1	SMART
ANK	262	291	3.31e-1	SMART
ANK	296	325	3.51e-5	SMART
ANK	329	358	1.33e-5	SMART
ANK	362	391	3.46e-4	SMART
ANK	396	425	3.23e-4	SMART
ANK	429	458	1.61e-4	SMART
ANK	462	491	1.46e-2	SMART
ANK	495	524	3.88e-7	SMART
ANK	529	558	4.19e-3	SMART
ANK	559	588	1.76e-5	SMART
ANK	592	621	3.51e-5	SMART
ANK	625	654	5.62e-4	SMART
ANK	659	688	1.29e-3	SMART
ANK	692	721	1.44e-1	SMART
coiled coil region	800	883	N/A	INTRINSIC
low complexity region	890	903	N/A	INTRINSIC
low complexity region	955	968	N/A	INTRINSIC
low complexity region	986	997	N/A	INTRINSIC
low complexity region	1046	1060	N/A	INTRINSIC
ANK	1078	1107	2.13e-4	SMART
ANK	1111	1140	8.19e-6	SMART
ANK	1145	1174	1.68e-2	SMART
ANK	1178	1207	1.61e-4	SMART
ANK	1213	1242	1.43e-5	SMART
ANK	1247	1276	1.83e-3	SMART
ANK	1280	1309	3.91e-3	SMART
ANK	1315	1344	1.93e-2	SMART
ANK	1348	1377	8.78e-6	SMART
ANK	1381	1410	7.59e-1	SMART
coiled coil region	1454	1522	N/A	INTRINSIC
low complexity region	1597	1611	N/A	INTRINSIC
low complexity region	1616	1636	N/A	INTRINSIC
KH	1720	1790	8.31e-14	SMART
low complexity region	1816	1827	N/A	INTRINSIC
low complexity region	1834	1850	N/A	INTRINSIC
low complexity region	1946	1989	N/A	INTRINSIC
low complexity region	1996	2024	N/A	INTRINSIC
low complexity region	2035	2052	N/A	INTRINSIC
low complexity region	2068	2077	N/A	INTRINSIC
low complexity region	2086	2110	N/A	INTRINSIC
low complexity region	2175	2189	N/A	INTRINSIC
low complexity region	2348	2365	N/A	INTRINSIC
low complexity region	2392	2411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081914
AA Change: E1355K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000080587
Gene: ENSMUSG00000055204
AA Change: E1355K

Domain	Start	End	E-Value	Type
low complexity region	6	40	N/A	INTRINSIC
low complexity region	55	71	N/A	INTRINSIC
low complexity region	82	130	N/A	INTRINSIC
ANK	229	258	8.62e1	SMART
ANK	262	291	3.31e-1	SMART
ANK	296	325	3.51e-5	SMART
ANK	329	358	1.33e-5	SMART
ANK	362	391	3.46e-4	SMART
ANK	396	425	3.23e-4	SMART
ANK	429	458	1.61e-4	SMART
ANK	462	491	1.46e-2	SMART
ANK	495	524	3.88e-7	SMART
ANK	529	558	4.19e-3	SMART
ANK	559	588	1.76e-5	SMART
ANK	592	621	3.51e-5	SMART
ANK	625	654	5.62e-4	SMART
ANK	659	688	1.29e-3	SMART
ANK	692	721	1.44e-1	SMART
low complexity region	795	809	N/A	INTRINSIC
ANK	827	856	2.13e-4	SMART
ANK	860	889	8.19e-6	SMART
ANK	894	923	1.68e-2	SMART
ANK	927	956	1.61e-4	SMART
ANK	962	991	1.43e-5	SMART
ANK	996	1025	1.83e-3	SMART
ANK	1029	1058	3.91e-3	SMART
ANK	1064	1093	1.93e-2	SMART
ANK	1097	1126	8.78e-6	SMART
ANK	1130	1159	7.59e-1	SMART
coiled coil region	1203	1271	N/A	INTRINSIC
low complexity region	1346	1360	N/A	INTRINSIC
low complexity region	1365	1385	N/A	INTRINSIC
KH	1469	1539	8.31e-14	SMART
low complexity region	1565	1576	N/A	INTRINSIC
low complexity region	1583	1599	N/A	INTRINSIC
low complexity region	1695	1738	N/A	INTRINSIC
low complexity region	1745	1773	N/A	INTRINSIC
low complexity region	1784	1801	N/A	INTRINSIC
low complexity region	1817	1826	N/A	INTRINSIC
low complexity region	1835	1859	N/A	INTRINSIC
low complexity region	1924	1938	N/A	INTRINSIC
low complexity region	2097	2114	N/A	INTRINSIC
low complexity region	2141	2160	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168058
AA Change: E1605K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128960
Gene: ENSMUSG00000055204
AA Change: E1605K

Domain	Start	End	E-Value	Type
low complexity region	6	40	N/A	INTRINSIC
low complexity region	55	71	N/A	INTRINSIC
low complexity region	82	130	N/A	INTRINSIC
ANK	229	258	8.62e1	SMART
ANK	262	291	3.31e-1	SMART
ANK	296	325	3.51e-5	SMART
ANK	329	358	1.33e-5	SMART
ANK	362	391	3.46e-4	SMART
ANK	396	425	3.23e-4	SMART
ANK	429	458	1.61e-4	SMART
ANK	462	491	1.46e-2	SMART
ANK	495	524	3.88e-7	SMART
ANK	529	558	4.19e-3	SMART
ANK	559	588	1.76e-5	SMART
ANK	592	621	3.51e-5	SMART
ANK	625	654	5.62e-4	SMART
ANK	659	688	1.29e-3	SMART
ANK	692	721	1.44e-1	SMART
coiled coil region	800	883	N/A	INTRINSIC
low complexity region	890	903	N/A	INTRINSIC
low complexity region	955	968	N/A	INTRINSIC
low complexity region	986	997	N/A	INTRINSIC
low complexity region	1046	1060	N/A	INTRINSIC
ANK	1078	1107	2.13e-4	SMART
ANK	1111	1140	8.19e-6	SMART
ANK	1145	1174	1.68e-2	SMART
ANK	1178	1207	1.61e-4	SMART
ANK	1213	1242	1.43e-5	SMART
ANK	1247	1276	1.83e-3	SMART
ANK	1280	1309	3.91e-3	SMART
ANK	1315	1344	1.93e-2	SMART
ANK	1348	1377	8.78e-6	SMART
ANK	1381	1410	7.59e-1	SMART
coiled coil region	1454	1522	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197021
AA Change: E1497K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142575
Gene: ENSMUSG00000055204
AA Change: E1497K

Domain	Start	End	E-Value	Type
ANK	120	149	5.4e-1	SMART
ANK	153	182	2e-3	SMART
ANK	187	216	2.2e-7	SMART
ANK	220	249	8.2e-8	SMART
ANK	253	282	2.2e-6	SMART
ANK	287	316	2.1e-6	SMART
ANK	320	349	9.9e-7	SMART
ANK	353	382	9.5e-5	SMART
ANK	386	415	2.4e-9	SMART
ANK	420	449	2.6e-5	SMART
ANK	450	479	1.1e-7	SMART
ANK	483	512	2.2e-7	SMART
ANK	516	545	3.5e-6	SMART
ANK	550	579	7.9e-6	SMART
ANK	583	612	8.9e-4	SMART
coiled coil region	691	774	N/A	INTRINSIC
low complexity region	781	794	N/A	INTRINSIC
low complexity region	846	859	N/A	INTRINSIC
low complexity region	877	888	N/A	INTRINSIC
low complexity region	937	951	N/A	INTRINSIC
ANK	969	998	1.4e-6	SMART
ANK	1002	1031	5.3e-8	SMART
ANK	1036	1065	1e-4	SMART
ANK	1069	1098	1e-6	SMART
ANK	1104	1133	9.1e-8	SMART
ANK	1138	1167	1.2e-5	SMART
ANK	1171	1200	2.5e-5	SMART
ANK	1206	1235	1.2e-4	SMART
ANK	1239	1268	5.5e-8	SMART
ANK	1272	1301	4.7e-3	SMART
coiled coil region	1345	1413	N/A	INTRINSIC
low complexity region	1488	1502	N/A	INTRINSIC
low complexity region	1507	1527	N/A	INTRINSIC
KH	1611	1681	5.1e-16	SMART
low complexity region	1707	1718	N/A	INTRINSIC
low complexity region	1725	1741	N/A	INTRINSIC
low complexity region	1837	1880	N/A	INTRINSIC
low complexity region	1887	1915	N/A	INTRINSIC
low complexity region	1926	1943	N/A	INTRINSIC
low complexity region	1959	1968	N/A	INTRINSIC
low complexity region	1977	2001	N/A	INTRINSIC
low complexity region	2066	2080	N/A	INTRINSIC
low complexity region	2239	2256	N/A	INTRINSIC
low complexity region	2283	2302	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200012

Predicted Effect

probably benign
Transcript: ENSMUST00000218526

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (59/60)

MGI Phenotype

Strain: 4360512
Lethality: E10-E12
FUNCTION: This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with hemorrhages, impaired vascular smooth muscle cell development, impaired vascular integrity, and growth retardation. [provided by MGI curators]

Allele List at MGI

All alleles(133) : Targeted(4) Gene trapped(129)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	T	18: 58,902,102	V360F	probably damaging	Het
Arid4a	A	G	12: 71,022,236	D54G	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 128,114,642		probably benign	Het
Card6	A	T	15: 5,105,019	V234E	possibly damaging	Het
Cd1d1	G	T	3: 86,998,702	Q89K	probably benign	Het
Ciita	G	A	16: 10,511,931	R693K	probably damaging	Het
Cox7a2l	G	T	17: 83,503,972	L77I	probably benign	Het
Crybg2	A	T	4: 134,075,790		probably null	Het
Cts8	T	C	13: 61,253,966	N39S	probably benign	Het
Def8	G	T	8: 123,460,048	E456*	probably null	Het
Dld	A	G	12: 31,340,989	F153L	probably benign	Het
Elf1	C	T	14: 79,567,261	T122I	probably benign	Het
Emilin2	T	C	17: 71,255,124	N961S	probably benign	Het
Esp24	A	G	17: 39,040,010	I34V	probably benign	Het
Fam129b	T	C	2: 32,923,123	V540A	probably damaging	Het
Fam184b	C	A	5: 45,584,012	K292N	probably damaging	Het
Gabrg3	T	A	7: 56,985,078	N119I	probably damaging	Het
Gucy1b1	T	C	3: 82,034,880	H524R	probably damaging	Het
Kcp	A	T	6: 29,502,632	S205T	probably benign	Het
Klb	C	T	5: 65,349,013	T201M	probably benign	Het
Lamp3	A	T	16: 19,673,398	F365L	probably damaging	Het
Mad1l1	T	A	5: 140,193,963	H390L	probably benign	Het
Mlxipl	T	C	5: 135,134,030	Y711H	possibly damaging	Het
Myo5b	T	A	18: 74,720,898	L1196Q	possibly damaging	Het
Ndufb8	A	G	19: 44,555,025	S70P	probably benign	Het
Neb	T	C	2: 52,209,342	D4832G	probably damaging	Het
Nr5a1	T	C	2: 38,701,995	D322G	probably benign	Het
Olfr396-ps1	A	T	11: 73,928,823	T273S	probably benign	Het
Olfr988	T	A	2: 85,353,354	S191C	probably damaging	Het
Oscar	G	A	7: 3,611,312	P143S	probably benign	Het
Oxa1l	T	A	14: 54,367,694		probably null	Het
Pafah2	A	G	4: 134,413,381	I221V	probably benign	Het
Pibf1	T	A	14: 99,179,358	F456I	probably benign	Het
Pla2g4d	C	T	2: 120,270,006	G615D	probably damaging	Het
Plekhg2	C	T	7: 28,361,013	V964I	probably benign	Het
Ppip5k1	C	A	2: 121,337,463	V770L	probably benign	Het
Ppl	A	T	16: 5,104,988	L213Q	possibly damaging	Het
Ptprf	G	A	4: 118,210,755	T1785I	possibly damaging	Het
Pycr2	G	A	1: 180,906,236	G131E	probably damaging	Het
Rbpj	C	T	5: 53,651,368		probably null	Het
Rcc1	G	T	4: 132,332,842	D430E	probably benign	Het
Rhbdf1	A	G	11: 32,212,007	V525A	possibly damaging	Het
Samd7	G	A	3: 30,756,483	M216I	probably benign	Het
Ska3	A	T	14: 57,816,694	D266E	probably benign	Het
Slc1a7	G	A	4: 108,012,444	V569M	probably damaging	Het
Slc26a1	C	T	5: 108,674,006	E6K	possibly damaging	Het
Slc4a4	T	A	5: 89,197,704	V741E	probably benign	Het
St6galnac3	C	T	3: 153,206,715	G164S	probably damaging	Het
Tgs1	T	A	4: 3,595,383	N517K	probably benign	Het
Tns4	A	G	11: 99,073,720	S522P	probably damaging	Het
Trpm1	A	T	7: 64,267,976	M355L	probably damaging	Het
Trpm8	G	A	1: 88,306,678		probably benign	Het
Uhrf1bp1	G	A	17: 27,884,605		probably null	Het
V1ra8	T	C	6: 90,203,100	F95S	probably damaging	Het
Zfp521	A	C	18: 13,846,109	S416A	possibly damaging	Het
Zfp574	T	A	7: 25,080,339	V262E	probably benign	Het
Zfp740	T	A	15: 102,208,808	I77N	probably damaging	Het
Zscan18	A	T	7: 12,775,198		probably benign	Het

Other mutations in Ankrd17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ankrd17	APN	5	90233928	missense	probably damaging	0.98
IGL00484:Ankrd17	APN	5	90268361	missense	probably damaging	0.99
IGL01320:Ankrd17	APN	5	90260129	missense	probably damaging	0.99
IGL01776:Ankrd17	APN	5	90283364	nonsense	probably null
IGL02093:Ankrd17	APN	5	90242963	missense	possibly damaging	0.93
IGL02292:Ankrd17	APN	5	90252859	unclassified	probably benign
IGL02302:Ankrd17	APN	5	90283198	missense	probably benign	0.23
IGL02472:Ankrd17	APN	5	90264151	missense	probably damaging	1.00
IGL02705:Ankrd17	APN	5	90283115	missense	probably benign	0.15
IGL02727:Ankrd17	APN	5	90244292	missense	possibly damaging	0.93
IGL02884:Ankrd17	APN	5	90264757	missense	probably damaging	1.00
3-1:Ankrd17	UTSW	5	90243154	missense	probably damaging	0.99
PIT1430001:Ankrd17	UTSW	5	90252973	missense	possibly damaging	0.91
R0025:Ankrd17	UTSW	5	90250405	missense	probably damaging	0.99
R0076:Ankrd17	UTSW	5	90244406	nonsense	probably null
R0076:Ankrd17	UTSW	5	90244406	nonsense	probably null
R0271:Ankrd17	UTSW	5	90254799	missense	possibly damaging	0.90
R0684:Ankrd17	UTSW	5	90263998	missense	probably damaging	0.99
R1239:Ankrd17	UTSW	5	90288676	missense	probably damaging	0.99
R1457:Ankrd17	UTSW	5	90285846	missense	possibly damaging	0.92
R1505:Ankrd17	UTSW	5	90300026	missense	possibly damaging	0.53
R1766:Ankrd17	UTSW	5	90264797	missense	possibly damaging	0.95
R1770:Ankrd17	UTSW	5	90243376	missense	possibly damaging	0.84
R1780:Ankrd17	UTSW	5	90232415	missense	probably damaging	0.96
R1916:Ankrd17	UTSW	5	90260141	missense	probably damaging	1.00
R1926:Ankrd17	UTSW	5	90244169	missense	probably damaging	1.00
R2090:Ankrd17	UTSW	5	90298046	missense	possibly damaging	0.92
R2153:Ankrd17	UTSW	5	90234059	missense	probably damaging	0.98
R2279:Ankrd17	UTSW	5	90264717	missense	probably damaging	1.00
R2420:Ankrd17	UTSW	5	90289320	missense	possibly damaging	0.94
R3012:Ankrd17	UTSW	5	90230868	missense	probably damaging	1.00
R3417:Ankrd17	UTSW	5	90243913	missense	possibly damaging	0.86
R3704:Ankrd17	UTSW	5	90243969	missense	possibly damaging	0.72
R4581:Ankrd17	UTSW	5	90283120	missense	possibly damaging	0.67
R4850:Ankrd17	UTSW	5	90264786	missense	probably damaging	1.00
R4926:Ankrd17	UTSW	5	90300032	missense	probably damaging	1.00
R5023:Ankrd17	UTSW	5	90282868	missense	probably damaging	1.00
R5068:Ankrd17	UTSW	5	90254808	missense	probably damaging	0.96
R5109:Ankrd17	UTSW	5	90243536	missense	possibly damaging	0.83
R5111:Ankrd17	UTSW	5	90242999	missense	possibly damaging	0.85
R5214:Ankrd17	UTSW	5	90283460	missense	possibly damaging	0.48
R5362:Ankrd17	UTSW	5	90265545	missense	probably damaging	1.00
R5576:Ankrd17	UTSW	5	90243224	missense	probably benign	0.00
R5615:Ankrd17	UTSW	5	90283436	missense	possibly damaging	0.88
R5874:Ankrd17	UTSW	5	90268797	intron	probably benign
R5932:Ankrd17	UTSW	5	90265436	missense	probably damaging	1.00
R5944:Ankrd17	UTSW	5	90285843	missense	probably damaging	1.00
R5993:Ankrd17	UTSW	5	90339672	intron	probably benign
R6052:Ankrd17	UTSW	5	90253832	missense	probably benign	0.03
R6306:Ankrd17	UTSW	5	90244154	missense	probably benign	0.03
R6418:Ankrd17	UTSW	5	90278345	missense	possibly damaging	0.89
R6663:Ankrd17	UTSW	5	90264064	missense	probably damaging	1.00
R6758:Ankrd17	UTSW	5	90263313	missense	probably damaging	1.00
R6782:Ankrd17	UTSW	5	90254738	missense	possibly damaging	0.91
R6793:Ankrd17	UTSW	5	90265512	missense	probably damaging	1.00
R6929:Ankrd17	UTSW	5	90285525	missense	possibly damaging	0.86
R7008:Ankrd17	UTSW	5	90260096	missense	possibly damaging	0.93
R7051:Ankrd17	UTSW	5	90366451	unclassified	probably benign
R7077:Ankrd17	UTSW	5	90285864	missense	possibly damaging	0.92
R7134:Ankrd17	UTSW	5	90232314	missense	probably damaging	0.99
R7134:Ankrd17	UTSW	5	90285523	missense	probably benign	0.03
R7138:Ankrd17	UTSW	5	90242977	missense	probably benign	0.38
R7143:Ankrd17	UTSW	5	90285961	missense	possibly damaging	0.85
R7173:Ankrd17	UTSW	5	90260117	missense	possibly damaging	0.95
R7176:Ankrd17	UTSW	5	90268735	missense	probably damaging	0.99
R7365:Ankrd17	UTSW	5	90291151	missense	possibly damaging	0.45
R7390:Ankrd17	UTSW	5	90282920	missense	probably benign	0.13
R7430:Ankrd17	UTSW	5	90295657	missense	possibly damaging	0.80
R7468:Ankrd17	UTSW	5	90243043	missense	probably benign
R7483:Ankrd17	UTSW	5	90299996	missense	probably benign	0.00
R7492:Ankrd17	UTSW	5	90233948	missense	possibly damaging	0.85
R7610:Ankrd17	UTSW	5	90232363	missense	possibly damaging	0.93
R7636:Ankrd17	UTSW	5	90232380	missense	possibly damaging	0.53
R7790:Ankrd17	UTSW	5	90260152	missense	possibly damaging	0.61
X0019:Ankrd17	UTSW	5	90298654	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACCAGTAAAAGCAGAACTTG -3'
(R):5'- CTACTTTGGCAGGTTCCCATGG -3'

Sequencing Primer
(F):5'- TTTATAGAAGCCTTGCCCGAAACG -3'
(R):5'- CTTTGGCAGGTTCCCATGGTAAAAG -3'

Posted On

2017-08-16