Mutagenetix > Incidental Mutation

Incidental Mutation 'R5068:Ankar'

388401

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

042658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 72680210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148640 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably null
Transcript: ENSMUST00000053499

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342

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 null
Transcript: ENSMUST00000053499

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342

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 null
Transcript: ENSMUST00000211837

Predicted Effect

probably null
Transcript: ENSMUST00000211837

Predicted Effect

probably null
Transcript: ENSMUST00000212573

Predicted Effect

probably null
Transcript: ENSMUST00000212573

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	A	C	6: 41,032,436	Y155D	probably benign	Het
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
6030468B19Rik	A	G	11: 117,802,875	Y56C	possibly damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Add2	T	A	6: 86,107,458	L496Q	probably damaging	Het
Akt1s1	T	C	7: 44,850,008		probably null	Het
Als2	G	T	1: 59,211,274	P437Q	probably benign	Het
Ankrd17	T	C	5: 90,254,808	R1464G	probably damaging	Het
Ankrd24	T	C	10: 81,639,865	S121P	possibly damaging	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Bnip3l	T	C	14: 66,999,632	E57G	possibly damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cc2d1b	T	C	4: 108,623,464	V27A	possibly damaging	Het
Cdc37	T	C	9: 21,149,803	T19A	probably damaging	Het
Cep152	T	C	2: 125,571,816	I1199V	probably benign	Het
Chd6	G	T	2: 160,966,369	L1642I	possibly damaging	Het
Chst13	T	C	6: 90,309,569	E137G	possibly damaging	Het
Cnrip1	A	G	11: 17,054,687	D79G	probably damaging	Het
Dars2	A	T	1: 161,041,913	C589S	probably benign	Het
Dhx15	T	G	5: 52,170,067	I102L	possibly damaging	Het
Dip2a	A	G	10: 76,318,043	L151P	possibly damaging	Het
Dlc1	T	C	8: 36,938,030	T202A	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dlgap4	T	C	2: 156,707,111	F464L	probably benign	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Dthd1	C	A	5: 62,818,716	D244E	probably benign	Het
Dtl	A	T	1: 191,568,373	D126E	probably damaging	Het
Ell2	A	G	13: 75,763,618	N341S	probably benign	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Erbb4	A	T	1: 68,043,902		probably null	Het
Erc2	A	T	14: 28,302,943	H593L	possibly damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Fyn	A	G	10: 39,526,843	K204E	probably damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gm4847	A	T	1: 166,638,384	F212Y	possibly damaging	Het
Gpc5	T	C	14: 115,417,264	*499R	probably null	Het
Hcn4	T	C	9: 58,860,021	L955P	unknown	Het
Hook2	C	A	8: 84,993,399	L111I	possibly damaging	Het
Hook3	C	T	8: 26,095,757		probably null	Het
Hvcn1	T	C	5: 122,233,481	F28S	probably damaging	Het
Igkv6-32	A	G	6: 70,074,283	F30L	possibly damaging	Het
Inpp5b	G	A	4: 124,742,649		probably null	Het
Itgb2	G	A	10: 77,548,761	A239T	probably damaging	Het
Kcnrg	T	C	14: 61,607,817	L102P	probably damaging	Het
Kif16b	A	T	2: 142,711,707	M1068K	probably benign	Het
Kifc3	T	C	8: 95,110,216	R109G	possibly damaging	Het
Klhl28	A	T	12: 64,957,712	M9K	probably benign	Het
Kptn	T	C	7: 16,123,102	Y172H	probably damaging	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Mrc1	T	A	2: 14,306,516	M868K	probably benign	Het
Mterf1a	T	C	5: 3,891,854	N5D	probably benign	Het
Muc5b	T	C	7: 141,858,608	S1764P	unknown	Het
Myo9b	T	C	8: 71,349,055	Y1275H	probably damaging	Het
Nek1	T	C	8: 61,016,296	I129T	probably damaging	Het
Net1	G	A	13: 3,886,740	A221V	probably benign	Het
Nuak2	A	T	1: 132,331,771	D429V	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr648	T	A	7: 104,180,241	S56C	probably damaging	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Olfr901	T	C	9: 38,430,464	Y61H	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdh7	T	C	5: 57,722,166	V1021A	probably damaging	Het
Pclo	G	C	5: 14,679,073		probably benign	Het
Pds5a	A	C	5: 65,615,272	D1329E	probably damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pias3	A	G	3: 96,703,855	K431E	probably damaging	Het
Piwil1	T	C	5: 128,741,614	S158P	probably damaging	Het
Plxnc1	A	T	10: 94,799,377	I1329N	possibly damaging	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Pnpla1	T	A	17: 28,879,423		probably null	Het
Prdm10	T	C	9: 31,359,047	Y827H	probably damaging	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rgl3	A	G	9: 21,988,044		probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rpp40	T	C	13: 35,898,698	N254D	probably benign	Het
Scin	T	A	12: 40,124,700	H128L	probably damaging	Het
Sh3bp2	A	T	5: 34,556,967	M225L	probably benign	Het
Shisa9	C	A	16: 12,267,548	H324Q	possibly damaging	Het
Sipa1l1	A	G	12: 82,437,827	D1585G	probably damaging	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slc6a13	T	C	6: 121,333,342	L320P	probably damaging	Het
Spats2l	A	G	1: 57,943,221	T421A	probably benign	Het
Spryd3	A	T	15: 102,128,611	D207E	probably benign	Het
Srrt	T	C	5: 137,296,541	N392S	possibly damaging	Het
Stk36	G	T	1: 74,622,345	R510S	probably benign	Het
Sucnr1	A	G	3: 60,086,867	Y272C	probably damaging	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Tmem131	A	G	1: 36,854,905	I139T	probably damaging	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Tsc22d1	T	C	14: 76,418,310	I661T	probably benign	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Uap1	G	T	1: 170,161,463	P130Q	probably damaging	Het
Ube3c	T	C	5: 29,601,354		probably null	Het
Umad1	A	T	6: 8,401,157		probably null	Het
Usp34	T	C	11: 23,460,665	V2705A	possibly damaging	Het
Vps13a	T	C	19: 16,746,058	S259G	probably benign	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wdfy3	T	C	5: 101,894,937	T1983A	probably benign	Het
Wdr24	T	G	17: 25,825,779	F203V	possibly damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	Het
Zfp282	A	C	6: 47,877,703	Q11P	probably benign	Het
Zfp750	T	A	11: 121,512,195	T576S	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
IGL03368:Ankar	APN	1	72675813	missense	probably damaging	1.00
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	splice site	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
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
R7618:Ankar	UTSW	1	72675766	missense	probably benign	0.22
R7659:Ankar	UTSW	1	72690135	missense	possibly damaging	0.95
R7974:Ankar	UTSW	1	72698979	nonsense	probably null
R8008:Ankar	UTSW	1	72666484	missense	possibly damaging	0.47
R8119:Ankar	UTSW	1	72647001	missense	probably damaging	0.98
R8244:Ankar	UTSW	1	72651024	missense	probably benign
R8342:Ankar	UTSW	1	72652460	missense	probably damaging	1.00
R8494:Ankar	UTSW	1	72658794	missense	probably benign	0.16
R8851:Ankar	UTSW	1	72652376	missense	probably damaging	1.00
R8970:Ankar	UTSW	1	72652337	critical splice donor site	probably null
R9228:Ankar	UTSW	1	72674051	missense	probably benign	0.27
R9511:Ankar	UTSW	1	72680002	missense	probably benign	0.23
R9577:Ankar	UTSW	1	72681908	missense	probably benign	0.02
R9612:Ankar	UTSW	1	72665135	missense	possibly damaging	0.65
R9647:Ankar	UTSW	1	72650148	missense	probably damaging	1.00
R9803:Ankar	UTSW	1	72659181	missense	possibly damaging	0.47
Z1176:Ankar	UTSW	1	72689961	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATGAAGCGTCTCTGGTTGAC -3'
(R):5'- ACTATGACTTTAGCGTTGTTCAGG -3'

Sequencing Primer
(F):5'- TTGAAGTTGGCGCTCCACAG -3'
(R):5'- TTCAGGGGGAAGCTCTTCAC -3'

Posted On

2016-06-06