Mutagenetix > Incidental Mutations

Incidental Mutation 'R1366:Ankar'

156019

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

039431-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72698649 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 125 (N125Y)

Ref Sequence

ENSEMBL: ENSMUSP00000148801 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000053499
AA Change: N125Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: N125Y

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: N125Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212573

Predicted Effect

probably benign
Transcript: ENSMUST00000212710

Meta Mutation Damage Score

0.2733

Coding Region Coverage

1x: 98.6%
3x: 97.1%
10x: 92.3%
20x: 80.8%

Validation Efficiency

93% (43/46)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	A	5: 31,487,517	C205S	probably benign	Het
Aasdh	A	T	5: 76,888,804	S297T	probably benign	Het
Acsm1	T	C	7: 119,658,288		probably benign	Het
Chd1l	T	C	3: 97,581,149	D517G	probably damaging	Het
Cir1	A	T	2: 73,306,413		probably benign	Het
Cpxm1	G	A	2: 130,396,122	R136W	probably damaging	Het
Cyhr1	T	C	15: 76,648,969	R190G	probably damaging	Het
Dnah10	A	T	5: 124,753,326	E761D	probably benign	Het
Fam186a	T	A	15: 99,943,389	E1658V	possibly damaging	Het
Fam98a	A	G	17: 75,539,386		probably benign	Het
Fanca	G	A	8: 123,304,281		probably benign	Het
Frmd6	T	C	12: 70,887,889		probably benign	Het
Gmpr2	T	C	14: 55,676,743		probably benign	Het
Hck	G	A	2: 153,138,295	G348D	probably damaging	Het
Ifnab	T	A	4: 88,691,100	Q43L	possibly damaging	Het
Ilkap	A	G	1: 91,387,215	I142T	possibly damaging	Het
Lamc3	T	C	2: 31,928,847	S1206P	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mid1	A	C	X: 169,986,094	N215H	probably damaging	Het
Mkrn1	T	C	6: 39,405,917	T134A	probably benign	Het
Mmp9	T	A	2: 164,953,342	V628E	probably damaging	Het
Msi2	A	T	11: 88,716,580	V67D	probably damaging	Het
Ncapd3	T	A	9: 27,057,940	V630E	probably damaging	Het
Nkain1	A	G	4: 130,537,316	V73A	probably damaging	Het
Nphp4	T	A	4: 152,502,926	D245E	probably damaging	Het
Olfr1014	G	A	2: 85,777,004	C140Y	probably benign	Het
Olfr114	T	C	17: 37,589,764	I196M	probably benign	Het
Olfr57	T	G	10: 79,035,042	M82R	probably damaging	Het
Pkd1l1	T	C	11: 8,941,038		probably benign	Het
Plcxd1	A	C	5: 110,102,230	I184L	probably damaging	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Scube2	A	G	7: 109,804,614	Y890H	probably damaging	Het
Slco6c1	T	A	1: 97,128,203		probably null	Het
Tnfaip2	T	G	12: 111,449,322	F485V	probably benign	Het
Tpd52	T	C	3: 8,963,933	D17G	probably damaging	Het
Ube4b	T	C	4: 149,335,149	D1034G	probably damaging	Het
Vmn2r118	G	A	17: 55,593,237	Q556*	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
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
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
Z1176:Ankar	UTSW	1	72689961	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCACAATTCAGAGAATCTGGCTCGT -3'
(R):5'- AGCCAACTTCCTTGCCATGACAAAT -3'

Sequencing Primer
(F):5'- AGAATCTGGCTCGTTTCTCTTTG -3'
(R):5'- GATGCTCGTTCTCAGCTAGAAAC -3'

Posted On

2014-02-11