Mutagenetix > Incidental Mutation

Incidental Mutation 'R6042:Ankar'

483590

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

044210-MU

Accession Numbers

Essential gene?

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

Stock #

R6042 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 72674054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 474 (S474*)

Ref Sequence

ENSEMBL: ENSMUSP00000148640 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably null
Transcript: ENSMUST00000053499
AA Change: S692*

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: S692*

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 null
Transcript: ENSMUST00000211837
AA Change: S691*

Predicted Effect

probably null
Transcript: ENSMUST00000212573
AA Change: S474*

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,177,249	K478M	probably benign	Het
Barx2	C	A	9: 31,846,903	E246D	probably benign	Het
Cdh7	A	T	1: 110,138,267	Q757L	probably damaging	Het
Cnr1	T	C	4: 33,944,751	F380L	probably damaging	Het
Cntnap5b	G	A	1: 100,390,592	A655T	probably benign	Het
Col2a1	T	A	15: 98,000,570		probably benign	Het
Crybg3	C	T	16: 59,550,475	R2340Q	possibly damaging	Het
Ctsb	G	T	14: 63,141,856	D306Y	probably damaging	Het
Cyp2a22	A	C	7: 26,934,239	Y349D	probably damaging	Het
Dcpp2	T	C	17: 23,898,912	L22S	probably damaging	Het
Dnah8	G	T	17: 30,747,265	M2476I	probably damaging	Het
Dst	A	G	1: 34,188,972	E1882G	probably damaging	Het
Esrp1	T	C	4: 11,357,580	K511E	possibly damaging	Het
Fat3	T	A	9: 16,377,817	T137S	probably benign	Het
Fbxw24	T	A	9: 109,607,011	M318L	probably benign	Het
Fpr-rs7	T	A	17: 20,113,215	T338S	probably benign	Het
Gcgr	T	C	11: 120,534,758	M1T	probably null	Het
Gm13101	G	T	4: 143,966,061	D123E	probably benign	Het
Grifin	C	A	5: 140,563,556	R135L	possibly damaging	Het
Helz	T	C	11: 107,614,120		probably null	Het
Hivep3	C	G	4: 120,097,864	Q1126E	possibly damaging	Het
Htr3a	T	A	9: 48,904,699	H146L	probably damaging	Het
Lama3	T	A	18: 12,574,254	V3081E	probably damaging	Het
Mgat5	T	A	1: 127,459,899	C531S	probably damaging	Het
Micalcl	A	G	7: 112,380,412	D106G	probably benign	Het
Nectin2	C	T	7: 19,738,138	A109T	probably benign	Het
Olfr1431	A	T	19: 12,209,922	M119L	probably damaging	Het
Olfr887	T	A	9: 38,085,094	V86E	probably damaging	Het
Olig3	T	C	10: 19,356,755	S43P	probably damaging	Het
Pcdh12	T	C	18: 38,281,505	R856G	probably damaging	Het
Phpt1	T	A	2: 25,574,839	M1L	probably benign	Het
Polr2m	T	C	9: 71,483,798	I41V	probably damaging	Het
Pzp	A	G	6: 128,524,014	V127A	possibly damaging	Het
Rgs7	G	T	1: 175,149,660	T126K	probably damaging	Het
RP23-399J5.1	T	C	8: 71,089,927		noncoding transcript	Het
Rras	A	T	7: 45,020,396	D112V	probably damaging	Het
Sdcbp2	T	A	2: 151,582,726	Y5*	probably null	Het
Slc43a2	T	C	11: 75,570,607	F462L	probably damaging	Het
Smchd1	T	A	17: 71,377,057	K1436*	probably null	Het
Snrnp27	A	C	6: 86,682,920	S31A	unknown	Het
Sqstm1	A	C	11: 50,207,424	F172V	probably benign	Het
Stk32b	T	A	5: 37,649,114	I29F	probably damaging	Het
Syt10	G	A	15: 89,841,621	T50I	probably benign	Het
Syt16	T	C	12: 74,266,730	Y477H	probably damaging	Het
Tacr3	A	T	3: 134,932,392	T437S	probably benign	Het
Tg	G	A	15: 66,683,993	D845N	probably benign	Het
Uqcc1	G	T	2: 155,921,644	S36R	possibly damaging	Het
Vmn1r20	T	C	6: 57,432,406	V239A	possibly damaging	Het
Xpo7	T	A	14: 70,695,663	Q263L	possibly damaging	Het
Zfp442	T	C	2: 150,408,096	K572E	probably damaging	Het
Zswim5	A	C	4: 116,962,621	S408R	probably benign	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
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'- TATCCCACCTTTGCACATGG -3'
(R):5'- GGCAAATCTGTGGAATTCAGAG -3'

Sequencing Primer
(F):5'- TATCCCACCTTTGCACATGGAAAATC -3'
(R):5'- CAAAGGGGTAGTGTAAATTAGAGTTC -3'

Posted On

2017-07-14