Mutagenetix > Incidental Mutation

Incidental Mutation 'R9511:Ankar'

718142

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72680002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 563 (R563C)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably benign
Transcript: ENSMUST00000053499
AA Change: R563C

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: R563C

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: R563C

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,615,504		probably benign	Het
Abca13	T	A	11: 9,328,130	S3103R	probably benign	Het
Alg9	A	C	9: 50,806,225	Y436S	probably damaging	Het
Ankrd34a	C	A	3: 96,598,085	R202S	probably benign	Het
Art4	T	A	6: 136,854,615	N176I	possibly damaging	Het
Bivm	A	G	1: 44,143,090	E486G	possibly damaging	Het
Ccdc3	C	A	2: 5,138,279	Q116K	probably damaging	Het
Cdc42bpb	G	A	12: 111,294,938	P1656S	probably benign	Het
Cdh6	T	C	15: 13,034,591	D661G	probably damaging	Het
Chek1	T	C	9: 36,713,451	N368S	probably benign	Het
Dnah11	A	T	12: 117,914,617	F3924L	probably damaging	Het
Dusp7	T	C	9: 106,370,926	I251T	probably damaging	Het
Dysf	T	A	6: 84,113,668	W988R	probably damaging	Het
Dzip1l	T	C	9: 99,637,657	V79A	possibly damaging	Het
Ebf1	A	G	11: 44,924,566	I344V	probably benign	Het
Ern2	T	C	7: 122,177,600	E336G	probably benign	Het
Fat4	T	C	3: 38,980,653	L2818P	probably damaging	Het
Gjb3	T	C	4: 127,326,338	S134G	probably damaging	Het
Gm10647	T	C	9: 66,798,474	F108L	unknown	Het
Gm19410	A	T	8: 35,790,694	D762V	probably damaging	Het
Gm8251	T	G	1: 44,059,694	D748A	probably benign	Het
Gper1	A	G	5: 139,426,383	K161R	probably benign	Het
Grin1	A	G	2: 25,297,414	M628T	probably damaging	Het
Gsdmc	A	T	15: 63,778,048	D331E	probably benign	Het
Haus3	C	A	5: 34,168,227	W29C	probably damaging	Het
Il10ra	T	C	9: 45,256,392	E289G	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnma1	T	C	14: 23,311,725	T1133A	possibly damaging	Het
Ksr1	G	A	11: 79,033,268	T458M	possibly damaging	Het
Mc5r	T	A	18: 68,339,494	M308K	possibly damaging	Het
Mis18a	T	C	16: 90,721,637	S146G	possibly damaging	Het
Mrpl50	G	A	4: 49,514,501	R57*	probably null	Het
Mtfmt	C	T	9: 65,435,865	R18C	probably benign	Het
Nanos1	T	A	19: 60,756,975	I237N	probably damaging	Het
Ncor1	TGC	TGCGGC	11: 62,433,623		probably benign	Het
Ndst3	T	A	3: 123,606,906	E450D	probably damaging	Het
Nek10	C	A	14: 14,828,511	T111K	probably benign	Het
Nipal2	T	C	15: 34,584,687	Y245C	probably damaging	Het
Npat	T	A	9: 53,562,106	D399E	probably benign	Het
Olfr1454	T	C	19: 13,063,755	S115P	probably damaging	Het
Opa1	A	G	16: 29,610,920	S378G	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Pex16	A	T	2: 92,379,214		probably null	Het
Plec	A	T	15: 76,174,697	I3680N	probably damaging	Het
Plin3	A	T	17: 56,284,225	V185E	probably damaging	Het
Prex1	T	A	2: 166,571,561	D1512V	probably damaging	Het
Ptpn22	T	A	3: 103,885,597	S355T	probably benign	Het
Ranbp3l	A	G	15: 9,012,118		probably benign	Het
Scn5a	A	G	9: 119,522,545	I790T	probably benign	Het
Sema6d	T	C	2: 124,658,023	F340L	probably damaging	Het
Slc22a2	A	G	17: 12,610,029	T341A	probably damaging	Het
Slc6a6	T	C	6: 91,744,940	Y374H	probably damaging	Het
Slitrk3	T	G	3: 73,050,939	S167R	possibly damaging	Het
Smchd1	G	A	17: 71,443,904	H340Y	possibly damaging	Het
Sorcs1	C	T	19: 50,678,083	R129Q	probably benign	Het
Sox9	A	G	11: 112,785,175	T397A	possibly damaging	Het
Tnpo1	C	A	13: 98,867,113	R245L	possibly damaging	Het
Traip	T	A	9: 107,961,586	M183K	probably damaging	Het
Trpc6	A	T	9: 8,680,418	E882D	probably benign	Het
Uba6	C	A	5: 86,140,360	G491V	probably damaging	Het
Uqcrfs1	A	T	13: 30,545,054	V65E	probably benign	Het
Urgcp	T	C	11: 5,718,128	D113G	probably damaging	Het
Wdr76	C	T	2: 121,542,495	T503M	probably damaging	Het
Zfp27	T	C	7: 29,894,216	T775A	possibly damaging	Het
Zfp518b	A	T	5: 38,672,052	V870E	possibly damaging	Het
Zfp932	T	A	5: 110,007,311	H63Q	possibly damaging	Het
Zkscan6	C	A	11: 65,821,991	T250N	probably damaging	Het
Zmat2	A	T	18: 36,797,905	K161N	possibly damaging	Het
Zyg11a	A	G	4: 108,205,223	L127P	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
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
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'- CGTGAATGTACCTATTTATCAGCAGG -3'
(R):5'- AAGTCTGCTGTTGAAAGAGGC -3'

Sequencing Primer
(F):5'- TTTATCAGCAGGTAGAAATCTGAGG -3'
(R):5'- AAAGAGGCTTGTCTGCTGTTTTCTAC -3'

Posted On

2022-07-18