Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03368:Ankar'

420187

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL03368

Quality Score

Status

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72675813 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 384 (L384P)

Ref Sequence

ENSEMBL: ENSMUSP00000148640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053499
AA Change: L602P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: L602P

Domain	Start	End	E-Value	Type
low complexity region	46	51	N/A	INTRINSIC
low complexity region	484	496	N/A	INTRINSIC
ANK	532	561	1.25e2	SMART
ANK	582	611	3.49e0	SMART
ANK	615	644	4.44e2	SMART
ANK	651	680	3.8e-1	SMART
ANK	684	714	9.87e0	SMART
ARM	744	784	5.96e-3	SMART
ARM	785	825	4.09e0	SMART
Blast:ARM	827	865	1e-15	BLAST
ARM	867	907	8.34e0	SMART
ARM	909	949	8.34e0	SMART
Blast:ARM	951	991	2e-13	BLAST
ARM	1034	1077	4.82e1	SMART
ARM	1084	1123	1.3e1	SMART
ARM	1257	1297	6.01e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000211837
AA Change: L601P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212573
AA Change: L384P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,222,373	V1914A	probably benign	Het
A530053G22Rik	T	C	6: 60,403,545		noncoding transcript	Het
Abca5	A	G	11: 110,313,522		probably benign	Het
Agxt2	T	A	15: 10,388,170	C278*	probably null	Het
Ankrd55	T	C	13: 112,318,556		probably benign	Het
Ap5m1	A	G	14: 49,081,136		probably benign	Het
Arhgap18	C	T	10: 26,772,693	S37F	possibly damaging	Het
Btnl10	G	A	11: 58,919,386	V118I	possibly damaging	Het
Chst11	C	A	10: 83,092,146	P66T	probably benign	Het
Cited2	C	A	10: 17,724,196	P84Q	possibly damaging	Het
D430042O09Rik	T	C	7: 125,868,858		probably benign	Het
Dpy19l4	T	A	4: 11,290,253	I302F	possibly damaging	Het
Ece2	A	G	16: 20,644,158	E640G	possibly damaging	Het
Fam184b	T	C	5: 45,531,824	D890G	possibly damaging	Het
Fam227b	A	T	2: 126,119,063	D215E	probably damaging	Het
Foxp2	A	G	6: 15,394,718	K139R	probably damaging	Het
Gle1	T	C	2: 29,943,793	C401R	probably damaging	Het
Gp2	A	T	7: 119,452,874	C206S	probably damaging	Het
Hdgfl2	G	T	17: 56,079,746		probably benign	Het
Hmcn1	T	C	1: 150,663,872	N2956S	probably damaging	Het
Ifi209	A	G	1: 173,642,491	Q215R	possibly damaging	Het
Il20rb	C	T	9: 100,459,121		probably benign	Het
Kif26b	A	C	1: 178,916,208	S1290R	probably damaging	Het
Mical1	A	G	10: 41,479,629	I156M	probably damaging	Het
Nbas	C	T	12: 13,328,451	A613V	probably benign	Het
Nbea	C	T	3: 56,079,930	V380M	probably damaging	Het
Nutf2	T	C	8: 105,875,600	F14S	probably damaging	Het
Olfr1260	A	T	2: 89,977,789	I4L	probably benign	Het
Olfr582	T	A	7: 103,041,765	H95Q	possibly damaging	Het
Parp1	A	G	1: 180,580,622	E236G	probably benign	Het
Podnl1	G	A	8: 84,132,189	V548I	probably benign	Het
Ptcd2	T	A	13: 99,330,069		probably benign	Het
Pygl	T	C	12: 70,191,152	Q704R	probably benign	Het
Scaper	A	T	9: 55,656,027	S492T	possibly damaging	Het
Sephs1	G	A	2: 4,889,269	D94N	possibly damaging	Het
Slc22a29	A	C	19: 8,207,262		probably null	Het
Slc22a8	G	T	19: 8,609,119		probably benign	Het
Slfn5	A	G	11: 82,956,385	D32G	possibly damaging	Het
Sphkap	T	A	1: 83,275,676	T1451S	probably benign	Het
Srp54a	A	C	12: 55,091,266	E63A	probably null	Het
Stap1	T	A	5: 86,090,968	I165N	probably damaging	Het
Terf2	T	C	8: 107,070,549	E494G	probably damaging	Het
Trak1	C	A	9: 121,367,122	L7I	possibly damaging	Het
Twnk	T	C	19: 45,010,492	V557A	probably damaging	Het
U2af2	T	A	7: 5,067,264		probably benign	Het
Ube2j1	T	A	4: 33,038,317	I75N	probably damaging	Het
Ubr5	A	G	15: 37,998,316	V1643A	probably damaging	Het
Vsx2	A	G	12: 84,570,300	T120A	probably benign	Het

Other mutations in Ankar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Ankar	APN	1	72690131	missense	probably damaging	1.00
IGL01013:Ankar	APN	1	72650989	missense	possibly damaging	0.90
IGL01135:Ankar	APN	1	72665219	missense	probably benign	0.28
IGL01824:Ankar	APN	1	72651727	missense	probably benign	0.40
IGL01885:Ankar	APN	1	72658703	missense	probably damaging	1.00
IGL01932:Ankar	APN	1	72698987	missense	probably benign	0.25
IGL02143:Ankar	APN	1	72658649	critical splice donor site	probably null
IGL02326:Ankar	APN	1	72666355	missense	probably damaging	1.00
IGL02445:Ankar	APN	1	72666365	missense	probably benign	0.05
IGL02606:Ankar	APN	1	72690285	missense	possibly damaging	0.61
IGL02635:Ankar	APN	1	72652431	missense	possibly damaging	0.93
IGL02680:Ankar	APN	1	72670116	missense	probably damaging	1.00
IGL02704:Ankar	APN	1	72652343	missense	possibly damaging	0.88
IGL03086:Ankar	APN	1	72643278	missense	possibly damaging	0.84
IGL03269:Ankar	APN	1	72665201	missense	probably damaging	0.99
R0050:Ankar	UTSW	1	72656164	missense	probably damaging	1.00
R0050:Ankar	UTSW	1	72656164	missense	probably damaging	1.00
R0488:Ankar	UTSW	1	72658732	missense	probably damaging	1.00
R0650:Ankar	UTSW	1	72656221	splice site	probably benign
R1121:Ankar	UTSW	1	72651663	intron	probably null
R1163:Ankar	UTSW	1	72688705	missense	possibly damaging	0.82
R1300:Ankar	UTSW	1	72643164	missense	probably benign	0.00
R1309:Ankar	UTSW	1	72674004	missense	possibly damaging	0.59
R1366:Ankar	UTSW	1	72698649	missense	probably damaging	1.00
R1456:Ankar	UTSW	1	72665118	missense	probably benign	0.34
R1495:Ankar	UTSW	1	72643291	missense	probably benign
R1583:Ankar	UTSW	1	72679555	splice site	probably benign
R1635:Ankar	UTSW	1	72650138	missense	probably damaging	0.99
R1975:Ankar	UTSW	1	72658441	missense	possibly damaging	0.95
R2036:Ankar	UTSW	1	72666530	nonsense	probably null
R2511:Ankar	UTSW	1	72658694	missense	probably damaging	1.00
R2965:Ankar	UTSW	1	72675820	missense	probably benign	0.00
R3404:Ankar	UTSW	1	72643093	nonsense	probably null
R3417:Ankar	UTSW	1	72658976	critical splice donor site	probably null
R4072:Ankar	UTSW	1	72688592	missense	probably damaging	1.00
R4231:Ankar	UTSW	1	72658542	missense	probably benign	0.23
R4447:Ankar	UTSW	1	72687789	missense	possibly damaging	0.60
R4632:Ankar	UTSW	1	72647184	missense	probably benign	0.01
R4720:Ankar	UTSW	1	72699011	missense	possibly damaging	0.55
R4754:Ankar	UTSW	1	72698694	missense	probably damaging	1.00
R4884:Ankar	UTSW	1	72698807	missense	probably damaging	0.97
R5068:Ankar	UTSW	1	72680210	splice site	probably null
R5069:Ankar	UTSW	1	72680210	splice site	probably null
R5070:Ankar	UTSW	1	72680210	splice site	probably null
R5189:Ankar	UTSW	1	72658414	missense	probably benign	0.01
R5247:Ankar	UTSW	1	72680184	missense	probably benign	0.08
R5322:Ankar	UTSW	1	72690386	splice site	probably null
R5345:Ankar	UTSW	1	72670151	missense	possibly damaging	0.94
R5864:Ankar	UTSW	1	72659165	missense	probably benign	0.00
R5976:Ankar	UTSW	1	72643291	missense	probably benign
R6003:Ankar	UTSW	1	72698887	missense	probably damaging	1.00
R6042:Ankar	UTSW	1	72674054	nonsense	probably null
R6296:Ankar	UTSW	1	72643258	missense	probably damaging	1.00
R6488:Ankar	UTSW	1	72681808	critical splice donor site	probably null
R6885:Ankar	UTSW	1	72643036	missense	unknown
R6985:Ankar	UTSW	1	72658482	missense	probably damaging	1.00
R7060:Ankar	UTSW	1	72656113	missense	probably benign	0.18
R7099:Ankar	UTSW	1	72643293	missense	probably damaging	0.99
R7194:Ankar	UTSW	1	72659033	missense	probably benign	0.32
R7221:Ankar	UTSW	1	72650231	missense	probably damaging	1.00
R7222:Ankar	UTSW	1	72666355	missense	probably damaging	0.99
R7258:Ankar	UTSW	1	72651727	missense	probably benign	0.40
R7303:Ankar	UTSW	1	72659033	missense	probably benign	0.32
R7308:Ankar	UTSW	1	72651794	nonsense	probably null
R7384:Ankar	UTSW	1	72658465	missense	probably benign	0.00
R7424:Ankar	UTSW	1	72680058	missense	probably damaging	1.00
R7464:Ankar	UTSW	1	72698894	missense	possibly damaging	0.94
R7525:Ankar	UTSW	1	72688641	missense	probably benign	0.18

Posted On

2016-08-02