Mutagenetix > Incidental Mutation

Incidental Mutation 'R1163:Ankar'

100547

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

039236-MU

Accession Numbers

Essential gene?

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

Stock #

R1163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72688705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 350 (V350I)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053499
AA Change: V350I

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V350I

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: V350I

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211962

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212573
AA Change: V132I

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000212710

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 87,121,422	Y7N	probably damaging	Het
4930579F01Rik	T	G	3: 138,176,510	D18A	probably damaging	Het
Abca8a	T	C	11: 110,071,530	D499G	probably benign	Het
Adamts1	G	C	16: 85,802,637	A25G	probably benign	Het
Adamts2	A	T	11: 50,779,714	I552F	probably damaging	Het
Akap3	A	G	6: 126,864,787	D123G	probably damaging	Het
Apob	A	G	12: 8,011,654	T3379A	probably damaging	Het
Ash1l	G	T	3: 89,035,263		probably null	Het
Atp2b1	T	C	10: 98,979,851	I119T	possibly damaging	Het
B3gnt2	A	T	11: 22,836,558	M210K	probably benign	Het
Bcl11a	A	G	11: 24,165,143	N829D	probably benign	Het
Btnl4	T	C	17: 34,470,075	E337G	possibly damaging	Het
Casr	A	T	16: 36,494,807	V967D	probably damaging	Het
Cd200	A	T	16: 45,392,352	V244D	probably damaging	Het
Cd200r4	A	G	16: 44,838,020	N256D	probably benign	Het
Cep68	A	G	11: 20,240,539	S158P	probably damaging	Het
Chst10	A	T	1: 38,871,702	V123D	probably damaging	Het
Cobll1	T	C	2: 65,098,279	H938R	probably damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Dmkn	T	G	7: 30,765,051	C205G	probably damaging	Het
Dock8	A	G	19: 25,051,503	I24V	probably benign	Het
Dpp3	C	T	19: 4,914,923	W488*	probably null	Het
Dpp9	C	A	17: 56,199,426	A365S	possibly damaging	Het
Egfr	A	T	11: 16,883,546	T605S	probably benign	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Fam83g	T	C	11: 61,703,436	S599P	probably damaging	Het
Fscn1	G	T	5: 142,960,843	W132L	probably damaging	Het
Gbp2b	A	G	3: 142,599,096	T98A	probably damaging	Het
Gm13088	A	G	4: 143,656,634	L5P	probably damaging	Het
Gm4922	C	T	10: 18,783,721	A418T	possibly damaging	Het
Golgb1	G	T	16: 36,916,126	V1912L	possibly damaging	Het
Gon4l	T	C	3: 88,892,535	L829P	probably damaging	Het
Grm3	T	A	5: 9,570,738	I169L	probably benign	Het
Gsdma2	A	G	11: 98,650,858	D137G	probably damaging	Het
Hhip	T	C	8: 79,992,476	Y474C	probably damaging	Het
Hsph1	A	T	5: 149,630,801	V163E	probably damaging	Het
Ifi203	T	C	1: 173,924,137	K373E	probably damaging	Het
Itsn2	A	G	12: 4,712,009	T1540A	probably benign	Het
Kdm1b	T	C	13: 47,071,922	V527A	probably benign	Het
Kdm5d	G	A	Y: 898,029	A22T	probably benign	Het
Khdrbs1	A	T	4: 129,725,586	F254Y	possibly damaging	Het
Kif26a	T	C	12: 112,179,945	F1822L	probably benign	Het
Krt1	C	A	15: 101,848,165	E308*	probably null	Het
Lrrc47	T	A	4: 154,011,817	M1K	probably null	Het
Mrgpra4	A	T	7: 47,981,476	W126R	probably damaging	Het
Nlrp4e	G	A	7: 23,320,972	V295I	probably benign	Het
Olfr1100	A	G	2: 86,978,676	L40P	probably damaging	Het
Olfr1258	G	T	2: 89,930,105	V99F	possibly damaging	Het
Olfr1446	T	A	19: 12,890,149	T143S	probably benign	Het
Olfr201	A	G	16: 59,269,155	S171P	probably benign	Het
Olfr206	A	T	16: 59,345,062	I213N	probably damaging	Het
Olfr228	A	T	2: 86,483,238	F168Y	probably damaging	Het
Olfr364-ps1	A	T	2: 37,147,027	T272S	probably damaging	Het
Olfr453	G	A	6: 42,744,123	V29I	probably benign	Het
Olfr798	A	G	10: 129,625,647	V138A	possibly damaging	Het
Plec	G	T	15: 76,183,838	N1190K	possibly damaging	Het
Plin1	T	C	7: 79,729,971	T44A	probably damaging	Het
Pou3f2	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	4: 22,487,697		probably benign	Het
Psg27	A	G	7: 18,565,309	L29P	probably damaging	Het
Psmd13	C	A	7: 140,897,454	T292N	probably damaging	Het
Rab1b	A	T	19: 5,104,656	Y88*	probably null	Het
Reln	T	A	5: 21,899,029	I3315L	probably benign	Het
Rmdn2	A	T	17: 79,659,451	M257L	probably benign	Het
Rnd1	A	T	15: 98,676,554	F47L	probably damaging	Het
Rnf41	G	A	10: 128,438,207	V243I	probably benign	Het
Rnf43	C	G	11: 87,729,513	S226R	probably damaging	Het
Scn5a	A	T	9: 119,533,927	D542E	probably damaging	Het
Sema5b	A	T	16: 35,628,096	I81F	probably benign	Het
Serinc5	G	A	13: 92,682,777	C73Y	probably damaging	Het
Serpina3g	A	T	12: 104,239,292	N97Y	possibly damaging	Het
Shq1	A	G	6: 100,637,072	S262P	probably damaging	Het
Smad4	A	T	18: 73,648,907	I428N	probably damaging	Het
Snip1	G	T	4: 125,072,820	G348W	probably damaging	Het
Spg11	A	G	2: 122,070,941	L1506P	probably damaging	Het
Stard9	G	A	2: 120,696,213	V984I	possibly damaging	Het
Svopl	A	T	6: 38,029,700	F121I	possibly damaging	Het
Tjp1	A	T	7: 65,323,054	V546E	probably damaging	Het
Tmem116	T	A	5: 121,493,756	F110L	probably damaging	Het
Ttyh2	C	T	11: 114,710,888	T446M	probably benign	Het
Tubb1	A	T	2: 174,457,739	I405L	probably benign	Het
Uba5	A	T	9: 104,055,826	F155L	possibly damaging	Het
Ubd	C	T	17: 37,195,321	H33Y	probably damaging	Het
Ube2cbp	A	T	9: 86,440,595	D175E	probably benign	Het
Usp24	A	G	4: 106,420,960	Q2293R	probably benign	Het
Vmn1r175	T	A	7: 23,808,512	H230L	probably benign	Het
Vmn1r88	A	G	7: 13,178,133	I139V	probably benign	Het
Vmn2r1	T	C	3: 64,086,625	F131L	probably benign	Het
Yipf3	T	C	17: 46,251,229		probably null	Het
Zdhhc19	A	G	16: 32,506,440	K192R	probably benign	Het
Zfy1	G	A	Y: 725,611	T718I	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
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
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

Posted On

2014-01-15