Mutagenetix > Incidental Mutation

Incidental Mutation 'R1635:Ankar'

173020

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1635 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72650138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1278 (Y1278C)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably damaging
Transcript: ENSMUST00000053499
AA Change: Y1278C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: Y1278C

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: Y1277C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212573
AA Change: Y1060C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	T	2: 25,444,856	I1947F	probably benign	Het
Adgrd1	G	T	5: 129,128,907	V182F	probably damaging	Het
Agmat	A	G	4: 141,747,069	D87G	probably damaging	Het
AI182371	T	C	2: 35,088,737		probably null	Het
Anapc1	G	T	2: 128,628,532	H1559Q	probably damaging	Het
Arhgef2	A	T	3: 88,639,321		probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Banp	A	T	8: 122,001,011	I130F	probably damaging	Het
C130050O18Rik	G	T	5: 139,414,493	R100S	probably benign	Het
Carmil3	A	G	14: 55,496,282	T374A	possibly damaging	Het
Cc2d2a	T	A	5: 43,722,470	W1076R	probably damaging	Het
Cdc34	T	G	10: 79,688,054	S235A	probably benign	Het
Cdh8	G	T	8: 99,031,024	H647Q	probably damaging	Het
Cdk1	A	T	10: 69,338,547	L282Q	probably damaging	Het
Ceacam3	A	G	7: 17,159,977	D471G	probably damaging	Het
Cltc	A	T	11: 86,757,279	I4N	probably benign	Het
Cntfr	T	A	4: 41,658,816	E305V	probably damaging	Het
Cwh43	T	A	5: 73,434,310	I496N	probably damaging	Het
Cyp2f2	A	G	7: 27,129,724	N218S	probably benign	Het
D16Ertd472e	A	G	16: 78,546,504		probably null	Het
Dab2	A	G	15: 6,429,870	Q400R	possibly damaging	Het
Dapl1	A	T	2: 59,496,562	I51F	probably benign	Het
Drc7	G	A	8: 95,074,332		probably null	Het
Etl4	A	G	2: 20,806,408	T1101A	probably damaging	Het
Fam83c	C	A	2: 155,830,051	R488M	possibly damaging	Het
Fam96b	A	T	8: 104,640,988	I108N	possibly damaging	Het
Fbxo42	A	G	4: 141,200,529	T707A	probably damaging	Het
Fcmr	A	T	1: 130,876,185		probably null	Het
Fer1l6	G	C	15: 58,647,081	K1687N	probably damaging	Het
Fgd4	G	A	16: 16,475,029	R275*	probably null	Het
Fxr2	G	A	11: 69,641,313	C87Y	possibly damaging	Het
Gja4	A	T	4: 127,312,679	I97N	probably damaging	Het
Gm136	A	G	4: 34,750,919		probably null	Het
Gm14496	A	G	2: 182,001,044	D836G	possibly damaging	Het
Gm8882	A	G	6: 132,363,006		probably null	Het
Grm3	T	A	5: 9,511,520	T777S	probably damaging	Het
Guca2b	A	G	4: 119,657,715	Y50H	probably damaging	Het
Herc2	C	T	7: 56,136,667	P1587S	probably benign	Het
Hmcn1	C	T	1: 150,669,558	S2766N	probably benign	Het
Idi2	T	A	13: 8,959,419	I224K	probably damaging	Het
Kmt2a	A	T	9: 44,824,369		probably benign	Het
Lonp2	A	T	8: 86,713,450	M693L	possibly damaging	Het
Megf8	G	T	7: 25,346,747	M1525I	possibly damaging	Het
Mgme1	T	C	2: 144,279,098	V276A	possibly damaging	Het
Mief2	G	T	11: 60,731,408	W268L	probably damaging	Het
Mpped1	C	T	15: 83,791,990		probably benign	Het
Mreg	T	C	1: 72,192,197	N34S	probably benign	Het
Myf6	T	C	10: 107,494,673	Y11C	probably damaging	Het
Myh9	C	A	15: 77,771,167	Q1196H	probably benign	Het
Myh9	A	T	15: 77,775,899	D56E	probably benign	Het
Myo5c	A	T	9: 75,277,075	R949S	probably benign	Het
Ncapg2	TAA	TA	12: 116,434,685		probably null	Het
Nfx1	T	A	4: 40,977,004	V226E	probably benign	Het
Nlrp10	T	A	7: 108,924,530	K581M	possibly damaging	Het
Nmd3	T	G	3: 69,739,984	I273S	probably benign	Het
Olfr1264	A	T	2: 90,021,970	I32N	possibly damaging	Het
P4hb	T	C	11: 120,571,616	E88G	probably damaging	Het
Pcnx3	A	T	19: 5,665,745	H1444Q	probably benign	Het
Pdia4	A	T	6: 47,799,199	F421L	possibly damaging	Het
Picalm	T	A	7: 90,191,251	S538T	probably damaging	Het
Ppp2r2b	T	A	18: 43,059,210	I11F	probably benign	Het
Ptk7	C	T	17: 46,573,534	E757K	possibly damaging	Het
Rbm22	T	G	18: 60,561,268	C24W	probably damaging	Het
Rev3l	A	G	10: 39,806,662	D288G	probably damaging	Het
Rgs18	T	A	1: 144,754,053	H156L	probably benign	Het
Rnf213	A	G	11: 119,442,579	I2871M	probably damaging	Het
Rrm2b	A	T	15: 37,945,084	M137K	probably damaging	Het
Rrp12	A	T	19: 41,868,785	D1183E	probably benign	Het
Sacs	G	A	14: 61,203,828	V1108M	probably damaging	Het
Scube2	A	T	7: 109,843,214	D270E	possibly damaging	Het
Serpina3a	T	A	12: 104,116,478	F170Y	probably damaging	Het
Serpinb3b	T	C	1: 107,154,673	E287G	probably benign	Het
Slamf8	C	T	1: 172,584,619	V130M	probably damaging	Het
Slc5a3	T	C	16: 92,077,396	S114P	possibly damaging	Het
Sos1	T	A	17: 80,422,679		probably null	Het
Sox10	A	T	15: 79,156,460	D293E	probably damaging	Het
Sphk1	A	G	11: 116,535,770	D177G	probably damaging	Het
Sphkap	T	G	1: 83,278,400	M543L	probably benign	Het
Syt13	A	T	2: 92,953,415	K343N	probably damaging	Het
Tatdn3	A	G	1: 191,060,176	M34T	probably benign	Het
Timd4	T	G	11: 46,842,162	V305G	possibly damaging	Het
Tnnc2	T	C	2: 164,777,592	I111V	probably benign	Het
Togaram2	C	T	17: 71,697,851	P301L	probably benign	Het
Trpc3	T	C	3: 36,640,627	N726S	probably damaging	Het
Tspear	T	A	10: 77,870,419	L341H	possibly damaging	Het
Ugt1a5	T	A	1: 88,166,083		probably benign	Het
Ulk3	A	T	9: 57,593,160		probably null	Het
Unc5d	T	A	8: 28,760,749	I297L	probably benign	Het
Usp20	A	G	2: 31,018,818	I804V	probably benign	Het
Usp22	G	T	11: 61,161,318	C278*	probably null	Het
Usp53	A	T	3: 122,934,223	N903K	probably benign	Het
V1rd19	T	C	7: 24,003,387	F93L	probably benign	Het
Zdbf2	T	A	1: 63,304,334	V624E	possibly damaging	Het
Zfyve16	A	T	13: 92,509,020	S1073T	probably damaging	Het
Zkscan8	T	C	13: 21,526,595	H115R	possibly damaging	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
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
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'- GCAGCACTTTCCGTTTTACAAATAGCC -3'
(R):5'- TGCACTGACCATTGTGTCTCAAGAAG -3'

Sequencing Primer
(F):5'- CCGTTTTACAAATAGCCTtttctttc -3'
(R):5'- TGTCTCAAGAAGTAGACATGGTGC -3'

Posted On

2014-04-24