Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:Ankar'

158270

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

039366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 72643164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1414 (V1414G)

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: V1414G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V1414G

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: V1413G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212057

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: V1196G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,244,808	I2535T	probably damaging	Het
Ank3	A	G	10: 70,004,665	I952V	probably benign	Het
Arl2	A	G	19: 6,141,073	M10T	probably benign	Het
Arpp21	A	G	9: 112,143,374	I352T	probably damaging	Het
BC067074	T	C	13: 113,366,160	F133S	probably damaging	Het
Cacna1e	T	A	1: 154,398,673	H2162L	probably benign	Het
Cep170b	A	C	12: 112,737,257	M622L	probably benign	Het
Cped1	T	C	6: 22,119,553	V337A	probably benign	Het
Cpn2	T	A	16: 30,259,663	T407S	probably benign	Het
Cpne4	T	C	9: 104,993,134	W263R	probably damaging	Het
Crtc1	A	G	8: 70,387,539		probably null	Het
Dennd5a	A	T	7: 109,919,407	I485N	probably benign	Het
Dnah6	T	C	6: 73,124,709	Q1892R	probably benign	Het
Dse	G	A	10: 34,152,415	A893V	probably benign	Het
Dsg1a	T	G	18: 20,332,149	S466A	probably benign	Het
Dstyk	T	C	1: 132,449,913	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,463,983	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,673,560	G2576C	probably damaging	Het
Eps15l1	A	T	8: 72,391,902	D162E	probably damaging	Het
Fstl4	C	A	11: 53,068,627	T165N	probably benign	Het
Gm5346	A	T	8: 43,626,844	Y114*	probably null	Het
Gm6904	A	T	14: 59,251,114	V78D	probably damaging	Het
Gm8674	T	C	13: 49,901,722		noncoding transcript	Het
Gtsf2	T	A	15: 103,444,353	L39F	possibly damaging	Het
Hck	A	C	2: 153,134,147	D202A	possibly damaging	Het
Il12b	T	A	11: 44,408,076		probably null	Het
Irf4	T	C	13: 30,757,585	L307P	probably damaging	Het
Keg1	G	A	19: 12,719,004	R184Q	probably damaging	Het
Kmt2c	T	C	5: 25,405,454	D218G	probably damaging	Het
Map1b	T	C	13: 99,432,521	K1231E	unknown	Het
Mapkbp1	T	C	2: 120,013,655	Y293H	probably benign	Het
Mfsd8	A	T	3: 40,823,898	D310E	probably benign	Het
Mmp9	A	T	2: 164,948,956	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,816,929	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,301,783	I110F	probably damaging	Het
Neu1	A	T	17: 34,934,338	Y279F	possibly damaging	Het
Nhsl1	A	G	10: 18,408,461	H50R	probably benign	Het
Nlrp3	C	T	11: 59,555,768	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,227,859	D517A	probably damaging	Het
Olfr299	T	C	7: 86,465,743	F111L	probably benign	Het
Olfr30	T	C	11: 58,455,841	Y36C	probably damaging	Het
Olfr392	T	C	11: 73,814,246	T279A	probably benign	Het
Olfr594	G	A	7: 103,220,117	R133Q	probably benign	Het
P3h2	C	A	16: 25,997,236	E176*	probably null	Het
Parp10	C	A	15: 76,241,990	D333Y	possibly damaging	Het
Pcdhb12	C	T	18: 37,437,397	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,510,404	T818S	possibly damaging	Het
Phip	A	T	9: 82,876,747	L1450Q	probably benign	Het
Pinx1	A	G	14: 63,919,410	E262G	probably benign	Het
Ppargc1a	T	C	5: 51,548,672	E19G	probably damaging	Het
Pum1	T	C	4: 130,765,961	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,762	H106L	probably benign	Het
Slc10a6	T	C	5: 103,606,684	D327G	probably benign	Het
Syt1	A	T	10: 108,631,821	V205D	possibly damaging	Het
Tep1	C	T	14: 50,827,055		probably null	Het
Thnsl2	T	A	6: 71,134,191	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,667,566	H304L	probably damaging	Het
Unc5c	G	A	3: 141,828,543	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,025,770	E506G	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
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

PCR Primer
(F):5'- TGTGGGCTCTTAACTCAGCATATCAAC -3'
(R):5'- GTGGCCTTCTTACTTCCAGGGAAAG -3'

Sequencing Primer
(F):5'- GCCATTCCCTGAAGATGCTG -3'
(R):5'- TTCTTACTTCCAGGGAAAGAGCAC -3'

Posted On

2014-02-18