Mutagenetix > Incidental Mutation

Incidental Mutation 'R1975:Ankar'

221512

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

039988-MU

Accession Numbers

Essential gene?

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

Stock #

R1975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72658441 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1068 (V1068I)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053499
AA Change: V1068I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V1068I

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

possibly damaging
Transcript: ENSMUST00000211837
AA Change: V1067I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212573
AA Change: V850I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.0816

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (71/74)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,604,259	T429A	probably benign	Het
Afmid	A	C	11: 117,836,474	I275L	probably benign	Het
Aimp1	A	C	3: 132,677,099	D5E	possibly damaging	Het
Aldob	G	A	4: 49,538,171	A319V	probably benign	Het
Ccr2	C	T	9: 124,106,793	S370L	probably benign	Het
Chrnb4	A	G	9: 55,034,818	Y391H	probably damaging	Het
Clip1	A	G	5: 123,623,218	M873T	possibly damaging	Het
Cspg4	G	C	9: 56,890,478	G1409R	probably damaging	Het
Dnah17	A	T	11: 118,096,536	L1320*	probably null	Het
Dock4	T	C	12: 40,779,642		probably benign	Het
Eml4	T	C	17: 83,410,193	S65P	probably benign	Het
Fblim1	A	T	4: 141,584,864	D183E	probably damaging	Het
Foxn1	T	C	11: 78,365,937		probably benign	Het
Gm973	A	T	1: 59,562,771	T515S	possibly damaging	Het
Hdac7	G	A	15: 97,806,505	Q495*	probably null	Het
Hipk3	T	C	2: 104,471,173	I225V	probably benign	Het
Hrc	A	T	7: 45,336,214	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,138,476	I21T	probably benign	Het
Il15ra	A	G	2: 11,723,523	T133A	possibly damaging	Het
Krt78	T	C	15: 101,946,168	*1069W	probably null	Het
Lama3	T	A	18: 12,453,863	M761K	probably damaging	Het
Lonp1	T	C	17: 56,615,068	T771A	possibly damaging	Het
Macf1	T	C	4: 123,489,212	T1320A	probably damaging	Het
Mark3	A	T	12: 111,615,441	I115L	probably damaging	Het
Mcph1	T	G	8: 18,689,065		probably benign	Het
Med23	T	A	10: 24,910,766	N923K	probably benign	Het
Msrb2	T	G	2: 19,393,221	Y97D	probably damaging	Het
Muc6	C	T	7: 141,648,101	G708S	probably damaging	Het
Mylk	T	C	16: 34,880,303		probably null	Het
Nfrkb	T	A	9: 31,414,684	V1141E	possibly damaging	Het
Obscn	T	C	11: 59,067,729	E3675G	probably damaging	Het
Olfr1053	C	G	2: 86,315,154	G44A	probably damaging	Het
Olfr167	G	A	16: 19,514,836	P267S	probably damaging	Het
Olfr203	T	C	16: 59,303,728	S193P	probably damaging	Het
Olfr612	A	T	7: 103,538,994	F80Y	probably damaging	Het
Olfr619	A	G	7: 103,604,012		probably null	Het
Olfr720	A	T	14: 14,175,446	V212E	probably damaging	Het
Olfr746	T	A	14: 50,653,364	N42K	probably damaging	Het
Pan2	T	C	10: 128,320,413	V1171A	probably damaging	Het
Pdgfc	C	T	3: 81,209,245	T302I	probably damaging	Het
Pkhd1l1	G	T	15: 44,529,713	V1815F	probably damaging	Het
Pnpt1	A	G	11: 29,141,256	I337V	probably benign	Het
Psma8	T	G	18: 14,730,976		probably null	Het
Rbl2	T	C	8: 91,085,462	S220P	probably benign	Het
Rere	T	A	4: 150,615,733	D1091E	probably damaging	Het
Rpa1	A	G	11: 75,306,176	C540R	probably damaging	Het
Sema3d	T	A	5: 12,563,318	V454E	probably damaging	Het
Sema3d	T	C	5: 12,584,998	V677A	probably benign	Het
Sgk2	A	G	2: 163,004,160	N207S	probably benign	Het
Sirpb1a	T	C	3: 15,379,081	I370V	probably benign	Het
Slc22a19	A	G	19: 7,683,859		probably benign	Het
Slc26a1	T	A	5: 108,672,472	D287V	probably damaging	Het
Slc36a4	T	A	9: 15,734,210	V311D	probably damaging	Het
Slco1b2	A	T	6: 141,683,225	Y551F	probably damaging	Het
Slco2a1	T	A	9: 103,079,454	Y488*	probably null	Het
Stab2	A	C	10: 86,896,496		probably null	Het
Strn	T	C	17: 78,692,499		probably null	Het
Tbxas1	A	G	6: 38,948,641		probably benign	Het
Thumpd3	A	G	6: 113,055,877	N192S	possibly damaging	Het
Tns3	T	A	11: 8,435,738	I1386F	probably benign	Het
Treml4	T	A	17: 48,272,793	V219E	probably damaging	Het
Triobp	T	C	15: 78,966,708	V354A	probably benign	Het
Tspan8	A	G	10: 115,844,130	I217V	probably benign	Het
Tub	G	A	7: 109,027,835	G314R	possibly damaging	Het
Ube3b	C	T	5: 114,399,865	T339M	possibly damaging	Het
Vmn2r43	A	G	7: 8,255,551	I221T	possibly damaging	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Zfp110	C	T	7: 12,848,502	T359I	probably benign	Het
Zfp322a	A	T	13: 23,356,904	C223S	probably damaging	Het
Zfp512b	G	A	2: 181,587,085	R696*	probably null	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
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'- TCTTTTGCAACAAAGGCCAC -3'
(R):5'- TGATGTAGTAGACACTGAAGTCC -3'

Sequencing Primer
(F):5'- TGTCACCATTTTAACTGACCAAG -3'
(R):5'- TGTAGTAGACACTGAAGTCCACACC -3'

Posted On

2014-08-25