Mutagenetix > Incidental Mutation

Incidental Mutation 'R5322:Ankar'

404878

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

042905-MU

Accession Numbers

Essential gene?

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

Stock #

R5322 (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 72690386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573] [ENSMUST00000212710]

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: ENSMUST00000211837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211962

Predicted Effect

probably null
Transcript: ENSMUST00000212573

Predicted Effect

probably null
Transcript: ENSMUST00000212710

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	G	9: 94,520,562	I349T	probably benign	Het
Adamts3	C	T	5: 89,707,300		probably null	Het
Ankrd60	T	A	2: 173,568,817	K303N	possibly damaging	Het
Appbp2	A	G	11: 85,196,064		probably null	Het
Arvcf	T	C	16: 18,397,643	M176T	probably benign	Het
Cachd1	T	C	4: 100,952,122	I268T	probably damaging	Het
Ccdc66	A	G	14: 27,482,527	S933P	probably damaging	Het
Cfi	C	T	3: 129,873,040	P471S	probably damaging	Het
Ckmt2	G	T	13: 91,861,772	T143K	possibly damaging	Het
Cnksr3	A	T	10: 7,135,078	D15E	probably damaging	Het
Copb2	A	T	9: 98,585,976	K680N	probably benign	Het
D2hgdh	T	C	1: 93,829,898		probably null	Het
Dcn	A	T	10: 97,517,602	T338S	probably benign	Het
Dnah10	G	A	5: 124,773,566	G1644D	probably damaging	Het
Dnah5	A	G	15: 28,384,244	I3045V	probably benign	Het
Dock3	G	A	9: 106,901,829	T307I	probably benign	Het
Dock5	A	T	14: 67,770,266	I1498N	probably benign	Het
Emc1	A	T	4: 139,354,246	N62Y	probably damaging	Het
Enpp6	C	A	8: 47,068,915	H295N	probably benign	Het
Epha10	A	G	4: 124,885,748	Y129C	probably damaging	Het
Fbn2	A	T	18: 58,039,315	D2139E	probably benign	Het
Fbxl12	A	T	9: 20,639,008	V140E	probably damaging	Het
Fignl1	A	T	11: 11,801,571	F495I	probably damaging	Het
Gm43302	C	T	5: 105,217,481	A554T	probably benign	Het
Gpr157	A	G	4: 150,098,852	N160D	probably benign	Het
Il1rn	G	A	2: 24,348,629		probably null	Het
Kctd13	T	A	7: 126,929,206	L51Q	probably damaging	Het
Kndc1	T	C	7: 139,936,809	F1561L	probably damaging	Het
Mast2	A	G	4: 116,333,411		probably null	Het
Mib1	A	G	18: 10,792,975	H637R	probably damaging	Het
Moxd1	A	T	10: 24,244,253	N93I	possibly damaging	Het
Mycbp2	T	C	14: 103,185,683		probably null	Het
Myot	T	C	18: 44,354,149	F351S	probably benign	Het
N4bp2	T	A	5: 65,790,457	N143K	possibly damaging	Het
Olfr1018	T	A	2: 85,823,187	I72N	probably damaging	Het
Olfr147	A	T	9: 38,403,566	I228F	probably damaging	Het
Olfr243	T	A	7: 103,717,112	W173R	probably benign	Het
Olfr455	T	C	6: 42,539,016	D2G	probably benign	Het
Olfr623	T	C	7: 103,660,672	I193V	possibly damaging	Het
Olfr666	C	T	7: 104,893,164	V155I	probably benign	Het
Olfr917	T	A	9: 38,665,206	I213L	probably benign	Het
Patl1	C	T	19: 11,920,859	R134*	probably null	Het
Paxbp1	T	C	16: 91,015,162	I887V	probably benign	Het
Pi4kb	G	A	3: 94,994,249	R436Q	probably benign	Het
Pla2g3	A	G	11: 3,488,686	E112G	probably benign	Het
Ppp2r2a	A	G	14: 67,038,873		probably null	Het
Rela	T	A	19: 5,645,380	S311R	possibly damaging	Het
Sidt1	T	A	16: 44,281,622		probably benign	Het
Smco2	T	C	6: 146,871,287	L329P	probably damaging	Het
Speer4f1	A	T	5: 17,477,349	I77F	possibly damaging	Het
Tex14	A	G	11: 87,511,472	I462V	probably benign	Het
Tmem260	C	T	14: 48,486,849	R385W	probably damaging	Het
Trrap	T	C	5: 144,844,224	V2974A	probably damaging	Het
Usp47	C	T	7: 112,053,269	T31I	probably damaging	Het
Zc2hc1a	A	G	3: 7,551,421	N247S	probably benign	Het
Zeb2	A	C	2: 44,997,095	M582R	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
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
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'- GGTTGTACTTTATAGCATTGGAAAGCC -3'
(R):5'- TAAGCTATGAGTTTGGCAGCC -3'

Sequencing Primer
(F):5'- AATATAAAGATGTTTTCGTGCTGTTG -3'
(R):5'- AGCCTGACTGCTGTGGAG -3'

Posted On

2016-07-22