Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02445:Ankar'

293563

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL02445

Quality Score

Status

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72666365 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 829 (K829Q)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000053499
AA Change: K829Q

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: K829Q

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 benign
Transcript: ENSMUST00000211837
AA Change: K828Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: K611Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	T	A	8: 84,159,508	M31K	probably benign	Het
Acacb	C	T	5: 114,245,137	T2127M	probably damaging	Het
Acp2	A	G	2: 91,206,261	D175G	possibly damaging	Het
Adamts12	T	C	15: 11,286,712	L801P	probably damaging	Het
Adcy10	T	G	1: 165,570,744	V1470G	possibly damaging	Het
Arhgef10l	T	C	4: 140,547,007	Y531C	probably benign	Het
Atm	T	C	9: 53,454,330	I2590V	probably benign	Het
Cblb	T	C	16: 52,166,305	L485P	probably damaging	Het
Col4a1	T	C	8: 11,233,911		probably benign	Het
Coprs	T	C	8: 13,885,797	K74R	possibly damaging	Het
Cul3	A	T	1: 80,304,169	L31M	possibly damaging	Het
Cyp3a59	C	A	5: 146,096,653	Q200K	probably benign	Het
Ddx19b	C	A	8: 111,008,824	V402L	probably damaging	Het
Disc1	T	A	8: 125,148,403		probably benign	Het
Dsg4	C	T	18: 20,446,250		probably benign	Het
Dspp	A	C	5: 104,177,097	Y442S	probably damaging	Het
Dtl	C	T	1: 191,558,060		probably null	Het
Ezh1	A	C	11: 101,210,687	V175G	possibly damaging	Het
Hepacam2	C	T	6: 3,483,481	G100D	probably damaging	Het
Herc1	T	A	9: 66,433,482	H1704Q	possibly damaging	Het
Kif26a	T	C	12: 112,173,743	S469P	probably damaging	Het
Lefty1	T	C	1: 180,937,677	M270T	probably benign	Het
Nap1l3	A	T	X: 122,396,055	V322D	probably damaging	Het
Ndufv2	A	G	17: 66,080,894		probably benign	Het
Olfr1179	G	A	2: 88,402,112	T274I	possibly damaging	Het
Olfr126	A	T	17: 37,851,117	H175L	probably damaging	Het
Olfr922	T	C	9: 38,815,605	I34T	possibly damaging	Het
Otol1	A	T	3: 70,028,034	D453V	probably damaging	Het
Papolb	G	A	5: 142,528,725	H388Y	probably benign	Het
Ppp1r10	A	G	17: 35,926,202	E128G	probably damaging	Het
Prss12	T	A	3: 123,487,020	D451E	probably damaging	Het
Psmc1	T	C	12: 100,114,828		probably benign	Het
Pygo1	T	A	9: 72,925,940	I10N	probably benign	Het
Rab31	C	T	17: 65,722,003		probably null	Het
Ret	G	A	6: 118,181,899	T184I	probably damaging	Het
Rhd	A	T	4: 134,884,170	M214L	possibly damaging	Het
Ripor3	C	A	2: 167,992,762		probably benign	Het
Sec16a	A	G	2: 26,422,040	L2036P	probably benign	Het
Slc26a3	C	A	12: 31,457,052	D335E	possibly damaging	Het
Ssfa2	G	A	2: 79,657,498	E642K	probably damaging	Het
Taf6	A	G	5: 138,184,494		probably benign	Het
Tnk2	T	C	16: 32,675,590	V442A	probably benign	Het
Virma	A	G	4: 11,527,029	M1143V	probably damaging	Het
Vmn2r77	A	T	7: 86,803,640	R522*	probably null	Het
Vmn2r-ps129	A	G	17: 23,008,419		noncoding transcript	Het
Zfp473	A	G	7: 44,733,683	C408R	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
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	intron	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
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
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
Z1176:Ankar	UTSW	1	72689961	missense	possibly damaging	0.95

Posted On

2015-04-16