Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Ankrd17'

17127

Institutional Source

Beutler Lab

Gene Symbol

Ankrd17

Ensembl Gene

ENSMUSG00000055204

Gene Name

ankyrin repeat domain 17

Synonyms

Gtar, A130069E23Rik, 4933425K22Rik

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

90375025-90514436 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 90392265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1693 (K1693*)

Ref Sequence

ENSEMBL: ENSMUSP00000142575 (fasta)

Gene Model

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

AlphaFold

Q99NH0

Predicted Effect

probably null
Transcript: ENSMUST00000014421
AA Change: K1802*

SMART Domains

Protein: ENSMUSP00000014421
Gene: ENSMUSG00000055204
AA Change: K1802*

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 null
Transcript: ENSMUST00000081914
AA Change: K1551*

SMART Domains

Protein: ENSMUSP00000080587
Gene: ENSMUSG00000055204
AA Change: K1551*

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

probably null
Transcript: ENSMUST00000168058
AA Change: K1801*

SMART Domains

Protein: ENSMUSP00000128960
Gene: ENSMUSG00000055204
AA Change: K1801*

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

probably null
Transcript: ENSMUST00000197021
AA Change: K1693*

SMART Domains

Protein: ENSMUSP00000142575
Gene: ENSMUSG00000055204
AA Change: K1693*

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: ENSMUST00000197327

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

MGI Phenotype

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
Abca15	T	G	7: 119,972,908 (GRCm39)		probably benign	Het
Acp3	A	G	9: 104,201,417 (GRCm39)		probably benign	Het
Ada	T	A	2: 163,569,523 (GRCm39)		probably benign	Het
Arhgef38	T	A	3: 132,866,507 (GRCm39)	H210L	possibly damaging	Het
Car10	G	A	11: 93,381,423 (GRCm39)	E129K	possibly damaging	Het
Cask	A	G	X: 13,544,513 (GRCm39)		probably benign	Het
Cd19	T	C	7: 126,010,034 (GRCm39)	D406G	probably damaging	Het
Cd93	T	C	2: 148,284,056 (GRCm39)	D430G	probably benign	Het
Cds1	T	C	5: 101,965,706 (GRCm39)		probably benign	Het
Cerkl	A	T	2: 79,173,633 (GRCm39)	S259T	possibly damaging	Het
Cfap91	G	A	16: 38,123,046 (GRCm39)	Q661*	probably null	Het
Cog8	T	C	8: 107,780,765 (GRCm39)	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,268,713 (GRCm39)	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,276,578 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,454,117 (GRCm39)	Q1241*	probably null	Het
Dock3	A	C	9: 106,788,685 (GRCm39)		probably benign	Het
Dus1l	A	T	11: 120,683,634 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,898,926 (GRCm39)	E438K	probably damaging	Het
Eif3g	A	G	9: 20,809,049 (GRCm39)	F85S	probably damaging	Het
Fam234b	A	G	6: 135,204,224 (GRCm39)	M456V	probably benign	Het
Fbxo47	G	A	11: 97,748,481 (GRCm39)		probably benign	Het
Fyb2	A	G	4: 104,802,661 (GRCm39)	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,039,462 (GRCm39)	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,260,448 (GRCm39)		noncoding transcript	Het
Gmfb	C	A	14: 47,054,912 (GRCm39)	A11S	probably benign	Het
Gpat4	G	A	8: 23,680,721 (GRCm39)		probably benign	Het
Ifitm6	T	A	7: 140,595,920 (GRCm39)	R124S	possibly damaging	Het
Il17rd	T	A	14: 26,816,811 (GRCm39)	L172Q	probably damaging	Het
Il4	A	T	11: 53,504,741 (GRCm39)	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,466,735 (GRCm39)	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,741,356 (GRCm39)		probably benign	Het
Mark1-ps1	T	A	17: 54,254,905 (GRCm39)		noncoding transcript	Het
Mndal	G	T	1: 173,702,013 (GRCm39)	C96*	probably null	Het
Mroh1	T	C	15: 76,335,340 (GRCm39)	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,376,268 (GRCm39)		probably benign	Het
Mthfsd	C	A	8: 121,825,478 (GRCm39)	V270F	probably benign	Het
Nbas	T	A	12: 13,374,337 (GRCm39)	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,611,412 (GRCm39)	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,533,382 (GRCm39)	Y131F	possibly damaging	Het
Plec	T	C	15: 76,075,614 (GRCm39)		probably benign	Het
Polr2b	T	A	5: 77,474,408 (GRCm39)	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,485,717 (GRCm39)	Q106*	probably null	Het
Ptprd	T	C	4: 75,865,276 (GRCm39)		probably benign	Het
Rad54b	G	A	4: 11,609,480 (GRCm39)		probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Scn7a	A	G	2: 66,544,381 (GRCm39)	V370A	probably benign	Het
Sec1	A	G	7: 45,328,315 (GRCm39)	V244A	probably damaging	Het
Serac1	A	G	17: 6,115,212 (GRCm39)		probably benign	Het
Slco2b1	A	T	7: 99,334,708 (GRCm39)	Y254*	probably null	Het
Steap3	G	A	1: 120,155,460 (GRCm39)	R500C	probably damaging	Het
Stk10	A	G	11: 32,553,722 (GRCm39)	T580A	probably benign	Het
Tpo	C	T	12: 30,154,022 (GRCm39)	G228R	probably damaging	Het
Tpx2	T	C	2: 152,735,603 (GRCm39)	F744L	probably damaging	Het
Ube3b	G	T	5: 114,546,278 (GRCm39)		probably null	Het
Vmn2r84	A	G	10: 130,230,062 (GRCm39)	S17P	probably damaging	Het
Vps13d	A	T	4: 144,891,264 (GRCm39)		probably benign	Het
Zfp532	T	A	18: 65,818,698 (GRCm39)	S851R	probably benign	Het
Zfp623	G	A	15: 75,819,058 (GRCm39)	E5K	probably benign	Het

Other mutations in Ankrd17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ankrd17	APN	5	90,381,787 (GRCm39)	missense	probably damaging	0.98
IGL00484:Ankrd17	APN	5	90,416,220 (GRCm39)	missense	probably damaging	0.99
IGL01320:Ankrd17	APN	5	90,407,988 (GRCm39)	missense	probably damaging	0.99
IGL01776:Ankrd17	APN	5	90,431,223 (GRCm39)	nonsense	probably null
IGL02093:Ankrd17	APN	5	90,390,822 (GRCm39)	missense	possibly damaging	0.93
IGL02292:Ankrd17	APN	5	90,400,718 (GRCm39)	unclassified	probably benign
IGL02302:Ankrd17	APN	5	90,431,057 (GRCm39)	missense	probably benign	0.23
IGL02472:Ankrd17	APN	5	90,412,010 (GRCm39)	missense	probably damaging	1.00
IGL02705:Ankrd17	APN	5	90,430,974 (GRCm39)	missense	probably benign	0.15
IGL02727:Ankrd17	APN	5	90,392,151 (GRCm39)	missense	possibly damaging	0.93
IGL02884:Ankrd17	APN	5	90,412,616 (GRCm39)	missense	probably damaging	1.00
3-1:Ankrd17	UTSW	5	90,391,013 (GRCm39)	missense	probably damaging	0.99
PIT1430001:Ankrd17	UTSW	5	90,400,832 (GRCm39)	missense	possibly damaging	0.91
R0025:Ankrd17	UTSW	5	90,398,264 (GRCm39)	missense	probably damaging	0.99
R0076:Ankrd17	UTSW	5	90,392,265 (GRCm39)	nonsense	probably null
R0271:Ankrd17	UTSW	5	90,402,658 (GRCm39)	missense	possibly damaging	0.90
R0684:Ankrd17	UTSW	5	90,411,857 (GRCm39)	missense	probably damaging	0.99
R1239:Ankrd17	UTSW	5	90,436,535 (GRCm39)	missense	probably damaging	0.99
R1457:Ankrd17	UTSW	5	90,433,705 (GRCm39)	missense	possibly damaging	0.92
R1505:Ankrd17	UTSW	5	90,447,885 (GRCm39)	missense	possibly damaging	0.53
R1766:Ankrd17	UTSW	5	90,412,656 (GRCm39)	missense	possibly damaging	0.95
R1770:Ankrd17	UTSW	5	90,391,235 (GRCm39)	missense	possibly damaging	0.84
R1780:Ankrd17	UTSW	5	90,380,274 (GRCm39)	missense	probably damaging	0.96
R1916:Ankrd17	UTSW	5	90,408,000 (GRCm39)	missense	probably damaging	1.00
R1926:Ankrd17	UTSW	5	90,392,028 (GRCm39)	missense	probably damaging	1.00
R2090:Ankrd17	UTSW	5	90,445,905 (GRCm39)	missense	possibly damaging	0.92
R2153:Ankrd17	UTSW	5	90,381,918 (GRCm39)	missense	probably damaging	0.98
R2279:Ankrd17	UTSW	5	90,412,576 (GRCm39)	missense	probably damaging	1.00
R2420:Ankrd17	UTSW	5	90,437,179 (GRCm39)	missense	possibly damaging	0.94
R3012:Ankrd17	UTSW	5	90,378,727 (GRCm39)	missense	probably damaging	1.00
R3417:Ankrd17	UTSW	5	90,391,772 (GRCm39)	missense	possibly damaging	0.86
R3704:Ankrd17	UTSW	5	90,391,828 (GRCm39)	missense	possibly damaging	0.72
R4581:Ankrd17	UTSW	5	90,430,979 (GRCm39)	missense	possibly damaging	0.67
R4850:Ankrd17	UTSW	5	90,412,645 (GRCm39)	missense	probably damaging	1.00
R4926:Ankrd17	UTSW	5	90,447,891 (GRCm39)	missense	probably damaging	1.00
R5023:Ankrd17	UTSW	5	90,430,727 (GRCm39)	missense	probably damaging	1.00
R5068:Ankrd17	UTSW	5	90,402,667 (GRCm39)	missense	probably damaging	0.96
R5109:Ankrd17	UTSW	5	90,391,395 (GRCm39)	missense	possibly damaging	0.83
R5111:Ankrd17	UTSW	5	90,390,858 (GRCm39)	missense	possibly damaging	0.85
R5214:Ankrd17	UTSW	5	90,431,319 (GRCm39)	missense	possibly damaging	0.48
R5362:Ankrd17	UTSW	5	90,413,404 (GRCm39)	missense	probably damaging	1.00
R5576:Ankrd17	UTSW	5	90,391,083 (GRCm39)	missense	probably benign	0.00
R5615:Ankrd17	UTSW	5	90,431,295 (GRCm39)	missense	possibly damaging	0.88
R5874:Ankrd17	UTSW	5	90,416,656 (GRCm39)	intron	probably benign
R5932:Ankrd17	UTSW	5	90,413,295 (GRCm39)	missense	probably damaging	1.00
R5944:Ankrd17	UTSW	5	90,433,702 (GRCm39)	missense	probably damaging	1.00
R5993:Ankrd17	UTSW	5	90,487,531 (GRCm39)	intron	probably benign
R6052:Ankrd17	UTSW	5	90,401,691 (GRCm39)	missense	probably benign	0.03
R6088:Ankrd17	UTSW	5	90,401,547 (GRCm39)	missense	possibly damaging	0.95
R6306:Ankrd17	UTSW	5	90,392,013 (GRCm39)	missense	probably benign	0.03
R6418:Ankrd17	UTSW	5	90,426,204 (GRCm39)	missense	possibly damaging	0.89
R6663:Ankrd17	UTSW	5	90,411,923 (GRCm39)	missense	probably damaging	1.00
R6758:Ankrd17	UTSW	5	90,411,172 (GRCm39)	missense	probably damaging	1.00
R6782:Ankrd17	UTSW	5	90,402,597 (GRCm39)	missense	possibly damaging	0.91
R6793:Ankrd17	UTSW	5	90,413,371 (GRCm39)	missense	probably damaging	1.00
R6929:Ankrd17	UTSW	5	90,433,384 (GRCm39)	missense	possibly damaging	0.86
R7008:Ankrd17	UTSW	5	90,407,955 (GRCm39)	missense	possibly damaging	0.93
R7051:Ankrd17	UTSW	5	90,514,310 (GRCm39)	unclassified	probably benign
R7077:Ankrd17	UTSW	5	90,433,723 (GRCm39)	missense	possibly damaging	0.92
R7134:Ankrd17	UTSW	5	90,433,382 (GRCm39)	missense	probably benign	0.03
R7134:Ankrd17	UTSW	5	90,380,173 (GRCm39)	missense	probably damaging	0.99
R7138:Ankrd17	UTSW	5	90,390,836 (GRCm39)	missense	probably benign	0.38
R7143:Ankrd17	UTSW	5	90,433,820 (GRCm39)	missense	possibly damaging	0.85
R7173:Ankrd17	UTSW	5	90,407,976 (GRCm39)	missense	possibly damaging	0.95
R7176:Ankrd17	UTSW	5	90,416,594 (GRCm39)	missense	probably damaging	0.99
R7365:Ankrd17	UTSW	5	90,439,010 (GRCm39)	missense	possibly damaging	0.45
R7390:Ankrd17	UTSW	5	90,430,779 (GRCm39)	missense	probably benign	0.13
R7430:Ankrd17	UTSW	5	90,443,516 (GRCm39)	missense	possibly damaging	0.80
R7468:Ankrd17	UTSW	5	90,390,902 (GRCm39)	missense	probably benign
R7483:Ankrd17	UTSW	5	90,447,855 (GRCm39)	missense	probably benign	0.00
R7492:Ankrd17	UTSW	5	90,381,807 (GRCm39)	missense	possibly damaging	0.85
R7610:Ankrd17	UTSW	5	90,380,222 (GRCm39)	missense	possibly damaging	0.93
R7636:Ankrd17	UTSW	5	90,380,239 (GRCm39)	missense	possibly damaging	0.53
R7790:Ankrd17	UTSW	5	90,408,011 (GRCm39)	missense	possibly damaging	0.61
R7839:Ankrd17	UTSW	5	90,411,213 (GRCm39)	missense	probably damaging	0.97
R7853:Ankrd17	UTSW	5	90,386,825 (GRCm39)	missense	possibly damaging	0.91
R7976:Ankrd17	UTSW	5	90,431,451 (GRCm39)	nonsense	probably null
R8054:Ankrd17	UTSW	5	90,438,914 (GRCm39)	missense	probably benign	0.43
R8230:Ankrd17	UTSW	5	90,391,835 (GRCm39)	missense	possibly damaging	0.86
R8274:Ankrd17	UTSW	5	90,430,718 (GRCm39)	missense	probably benign	0.15
R8365:Ankrd17	UTSW	5	90,398,378 (GRCm39)	missense	possibly damaging	0.95
R8532:Ankrd17	UTSW	5	90,412,679 (GRCm39)	missense	probably damaging	1.00
R8729:Ankrd17	UTSW	5	90,443,452 (GRCm39)	missense	probably benign
R8812:Ankrd17	UTSW	5	90,441,062 (GRCm39)	missense	probably benign	0.09
R8933:Ankrd17	UTSW	5	90,406,325 (GRCm39)	missense	probably damaging	0.99
R9051:Ankrd17	UTSW	5	90,411,134 (GRCm39)	missense	probably damaging	0.99
R9055:Ankrd17	UTSW	5	90,380,168 (GRCm39)	missense	probably benign	0.33
R9136:Ankrd17	UTSW	5	90,392,278 (GRCm39)	missense	probably damaging	0.96
R9158:Ankrd17	UTSW	5	90,416,575 (GRCm39)	missense	probably damaging	1.00
R9201:Ankrd17	UTSW	5	90,378,798 (GRCm39)	missense	possibly damaging	0.84
R9315:Ankrd17	UTSW	5	90,398,360 (GRCm39)	missense	probably damaging	0.97
R9364:Ankrd17	UTSW	5	90,416,508 (GRCm39)	missense	probably damaging	1.00
R9366:Ankrd17	UTSW	5	90,416,508 (GRCm39)	missense	probably damaging	1.00
R9368:Ankrd17	UTSW	5	90,416,508 (GRCm39)	missense	probably damaging	1.00
R9368:Ankrd17	UTSW	5	90,391,986 (GRCm39)	missense	possibly damaging	0.91
R9369:Ankrd17	UTSW	5	90,416,508 (GRCm39)	missense	probably damaging	1.00
R9381:Ankrd17	UTSW	5	90,416,508 (GRCm39)	missense	probably damaging	1.00
R9570:Ankrd17	UTSW	5	90,401,536 (GRCm39)	missense
X0019:Ankrd17	UTSW	5	90,446,513 (GRCm39)	missense	probably damaging	1.00
Z1177:Ankrd17	UTSW	5	90,437,184 (GRCm39)	missense	possibly damaging	0.86
Z1177:Ankrd17	UTSW	5	90,431,364 (GRCm39)	missense	possibly damaging	0.83

Nature of Mutation

Two transcripts of the Ankrd17 gene are displayed on Ensembl.

Protein Function and Prediction

The Ankrd17 gene encodes at least two isoforms of an ankyrin (ANK) repeat-containing protein (1-3). Isoform a contains 2603 amino acids, while isoform b contains 2352 amino acids. Isoform a contains 25 ANK repeats and one KH domain at amino acids 1721-1785 (1-3). The ANK repeat is a common protein-protein interaction motif with tandemly repeated modules of about 33 amino acids (Uniprot Q99NH0). The Ankrd17 has two promoters, one is restrictively activated in the liver, while the other drives ubiquitous expression of Ankrd17 (1;2). Immunocytochemistry of U2OS and HeLa cells revealed that Ankrd17 is localized to the nucleus (3). Hou et al. have shown that Ankrd17 regulates the differentiation of vascular smooth muscle cell (vSMC) precursors and their recruitment to the vessel tubes during embryonic development (2). Another study used TAP tag purification and determined that Ankrd17 is a substrate of cyclin E/Cdk2 (3). Ankrd17 has three phosphorylation sites Ser¹⁷⁹¹, Ser¹⁷⁹⁴, and Ser²¹⁵⁰ that can be phosphorylated by cyclin E/Cdk2 (3). Overexpression of Ankrd17 results in the promotion of cell cycle progression, while depletion blocks DNA replication and regulates the levels of p53 and p21 (3).

Ankrd17^{tm1.1Yty/tm1.1Yty}; MGI:4360512

B6.129P2-Ankrd17^tm1.1Yty

Mice homozygous for a null mutation display embryonic lethality during organogenesis (at ~E11.5) with hemorrhages, impaired vascular smooth muscle cell development, impaired vascular integrity, and growth retardation (2).

Ankrd17^{Gt(PT1-ATG)114Wrst/Gt(PT1-ATG)114Wrst}; MGI:2155467

involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Homozygotes of this gene-trapped allele are phenotypically normal (1;4).

References

1. Watt, A. J., Jones, E. A., Ure, J. M., Peddie, D., Wilson, D. I., and Forrester, L. M. (2001) A Gene Trap Integration Provides an Early in Situ Marker for Hepatic Specification of the Foregut Endoderm. Mech Dev. 100, 205-215.

2. Hou, S. C., Chan, L. W., Chou, Y. C., Su, C. Y., Chen, X., Shih, Y. L., Tsai, P. C., Shen, C. K., and Yan, Y. T. (2009) Ankrd17, an Ubiquitously Expressed Ankyrin Factor, is Essential for the Vascular Integrity during Embryogenesis. FEBS Lett. 583, 2765-2771.

3. Deng, M., Li, F., Ballif, B. A., Li, S., Chen, X., Guo, L., and Ye, X. (2009) Identification and Functional Analysis of a Novel Cyclin e/cdk2 Substrate ankrd17. J Biol Chem. 284, 7875-7888.

4. Forrester, L. M., Nagy, A., Sam, M., Watt, A., Stevenson, L., Bernstein, A., Joyner, A. L., and Wurst, W. (1996) An Induction Gene Trap Screen in Embryonic Stem Cells: Identification of Genes that Respond to Retinoic Acid in Vitro. Proc Natl Acad Sci U S A. 93, 1677-1682.

Posted On

2013-01-20

Science Writer

Anne Murray