Mutagenetix > Incidental Mutation

Incidental Mutation 'R2036:Ankar'

224582

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

040043-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 72666530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 556 (K556*)

Ref Sequence

ENSEMBL: ENSMUSP00000148640 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably null
Transcript: ENSMUST00000053499
AA Change: K774*

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: K774*

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
AA Change: K773*

Predicted Effect

probably null
Transcript: ENSMUST00000212573
AA Change: K556*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,743,254	D1029G	probably damaging	Het
4930415H17Rik	C	T	11: 99,685,532	C3Y	unknown	Het
Abr	G	T	11: 76,452,350	T547K	probably benign	Het
Akr1c21	T	C	13: 4,576,306	Y110H	probably damaging	Het
Anks1b	T	C	10: 90,969,853	V431A	probably damaging	Het
Ap5b1	T	C	19: 5,568,869	S106P	possibly damaging	Het
Arhgap17	T	C	7: 123,318,494	N156D	possibly damaging	Het
Arhgap35	T	C	7: 16,563,133	E669G	probably damaging	Het
Arhgap44	T	C	11: 65,041,492	M201V	possibly damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atg4c	C	T	4: 99,218,139	T112M	possibly damaging	Het
Bcl11a	A	T	11: 24,164,087	N477Y	possibly damaging	Het
Brinp3	A	T	1: 146,701,841	I205F	possibly damaging	Het
Capza2	T	C	6: 17,660,778	F159S	probably damaging	Het
Cd40	T	C	2: 165,062,301	C61R	probably benign	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Cdh23	A	G	10: 60,466,043	I415T	possibly damaging	Het
Clnk	A	T	5: 38,752,800		probably null	Het
Ctcfl	C	T	2: 173,101,985	R524Q	possibly damaging	Het
Cyb5r4	T	G	9: 87,042,879		probably benign	Het
Ddb1	T	A	19: 10,610,822		probably benign	Het
Ddx51	C	A	5: 110,656,625	Q526K	probably benign	Het
Dennd6a	A	T	14: 26,608,119	Q56L	probably damaging	Het
Dhdds	T	C	4: 133,971,099	E142G	probably damaging	Het
Dnaic1	A	G	4: 41,632,225	H553R	probably damaging	Het
Fryl	C	A	5: 73,107,962		probably null	Het
Fryl	T	C	5: 73,022,544	N2908S	probably benign	Het
Fut9	A	G	4: 25,620,322	I164T	probably damaging	Het
Gba2	G	A	4: 43,568,118		probably benign	Het
Gm11627	C	T	11: 102,576,754	V33I	unknown	Het
Helz2	T	A	2: 181,237,479	H782L	probably benign	Het
Kcnmb3	A	G	3: 32,472,382	V220A	probably damaging	Het
Kif20a	T	C	18: 34,628,462	S303P	possibly damaging	Het
Kif22	A	T	7: 127,030,954	V470E	possibly damaging	Het
Majin	C	T	19: 6,213,312	T132M	probably benign	Het
Mboat7	A	G	7: 3,685,672		probably null	Het
Mkrn2	C	A	6: 115,611,914	P206Q	probably benign	Het
Mphosph9	G	A	5: 124,304,211	T358M	probably damaging	Het
Nkd1	A	G	8: 88,591,677	D210G	probably damaging	Het
Olfr1215	C	T	2: 89,001,632	V219I	probably damaging	Het
Olfr1287	T	A	2: 111,449,626	L162Q	possibly damaging	Het
Olfr1411	A	T	1: 92,596,606	E29V	probably benign	Het
Olfr1443	G	C	19: 12,680,801	G231A	probably damaging	Het
Olfr291	G	T	7: 84,856,358		probably benign	Het
Olfr494	T	A	7: 108,367,740	N83K	probably benign	Het
Olfr781	G	A	10: 129,333,672	D264N	probably benign	Het
Pi4ka	A	G	16: 17,303,112	Y63H	probably damaging	Het
Plekha1	A	G	7: 130,902,192	R210G	probably damaging	Het
Ppp2r2c	C	T	5: 36,952,404	T369I	possibly damaging	Het
Rmnd1	T	C	10: 4,407,884	D12G	probably damaging	Het
Rtn2	A	G	7: 19,293,739	K120E	probably damaging	Het
Sh3tc1	A	G	5: 35,716,164	S30P	probably benign	Het
Tln2	T	C	9: 67,272,704	E795G	possibly damaging	Het
Tmprss11d	T	A	5: 86,309,269	Y177F	probably damaging	Het
Trrap	C	A	5: 144,828,562	D2529E	probably benign	Het
Vmn2r58	A	G	7: 41,863,993	Y409H	probably benign	Het
Wdr72	T	A	9: 74,151,594	V323D	probably 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
R1635:Ankar	UTSW	1	72650138	missense	probably damaging	0.99
R1975:Ankar	UTSW	1	72658441	missense	possibly damaging	0.95
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'- GCTGGCTGAAATGCTTTCTCTC -3'
(R):5'- ACACCACTTCAAGCTGCTATTC -3'

Sequencing Primer
(F):5'- CTGTCAGTGGAAAAATGGGTTC -3'
(R):5'- ACCACTTCAAGCTGCTATTCTATAC -3'

Posted On

2014-08-25