Mutagenetix > Incidental Mutation

Incidental Mutation 'R8342:Ankar'

644925

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

067731-MU

Accession Numbers

Essential gene?

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

Stock #

R8342 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72652460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1114 (V1114A)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably damaging
Transcript: ENSMUST00000053499
AA Change: V1114A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V1114A

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 damaging
Transcript: ENSMUST00000211837
AA Change: V1113A

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212573
AA Change: V896A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	T	A	2: 23,257,005		probably null	Het
Aak1	A	G	6: 86,986,339	D917G	unknown	Het
Adad1	T	C	3: 37,079,901	S322P	probably damaging	Het
Agbl4	C	T	4: 111,119,027	L194F	probably damaging	Het
Ahr	C	T	12: 35,508,272	G250R	probably damaging	Het
AI987944	A	T	7: 41,374,886	I226N	probably benign	Het
Ankrd49	C	A	9: 14,781,527	A114S	probably damaging	Het
Arl6	C	T	16: 59,622,439	G140D	unknown	Het
Arrdc3	A	G	13: 80,883,671	S8G	probably benign	Het
Ate1	A	T	7: 130,503,765	V298E	probably benign	Het
Atp6v1b2	A	G	8: 69,101,383	I71V	probably benign	Het
Bin1	A	G	18: 32,413,113	M112V	probably benign	Het
Camk2b	C	T	11: 5,990,383	A152T	probably benign	Het
Cars2	A	C	8: 11,529,706	F251V	probably damaging	Het
Cdkl1	A	T	12: 69,754,178	F229I	probably damaging	Het
Ceacam5	A	T	7: 17,752,246	Y556F	possibly damaging	Het
Chst15	T	C	7: 132,247,886	N442S	probably benign	Het
Ckap5	T	A	2: 91,606,362	D1602E	possibly damaging	Het
Col9a3	A	T	2: 180,603,390	I131F	unknown	Het
Cyp4f15	A	T	17: 32,690,759	D110V	possibly damaging	Het
Dlec1	A	G	9: 119,139,389	I1258V	probably benign	Het
Dpyd	A	G	3: 119,314,803	T832A	possibly damaging	Het
Eno1	A	G	4: 150,245,236	Y189C	probably damaging	Het
Gm12800	A	T	4: 101,910,384	M277L	probably benign	Het
Gnat3	A	G	5: 18,003,840	T181A		Het
Kif1b	T	C	4: 149,222,348	M852V	probably damaging	Het
Klk1b26	A	T	7: 44,016,084	I139F	probably damaging	Het
Loxhd1	G	A	18: 77,405,985	V1547M	possibly damaging	Het
Lrp4	A	G	2: 91,488,445	T876A	probably damaging	Het
Malrd1	G	T	2: 15,633,224	W451L	unknown	Het
March6	A	T	15: 31,494,116	N261K	possibly damaging	Het
Mcpt2	T	C	14: 56,042,793	C50R	probably damaging	Het
Muc16	A	G	9: 18,658,685	V846A	unknown	Het
Muc5b	A	T	7: 141,860,865	D2516V	unknown	Het
Myh15	T	C	16: 49,092,757	L359P	probably benign	Het
Nemp1	G	A	10: 127,693,029	V201I	probably benign	Het
Nr2e1	A	T	10: 42,568,429	L228Q	probably damaging	Het
Nrg1	C	A	8: 31,822,306	V388L	probably benign	Het
Nrg3	T	A	14: 39,012,096	T278S	probably damaging	Het
Numb	T	C	12: 83,808,216	E112G	probably benign	Het
Olfr364-ps1	T	C	2: 37,146,766	S185P	probably damaging	Het
Olfr971	A	C	9: 39,840,316	N294T	probably damaging	Het
Pdlim2	C	A	14: 70,166,114	C283F	probably damaging	Het
Ppm1a	G	A	12: 72,784,135	G145R	probably damaging	Het
Pramef17	T	A	4: 143,994,239	D44V	probably benign	Het
Prune2	C	A	19: 17,125,663	Q2729K	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Scn9a	G	T	2: 66,536,282	T719K	probably benign	Het
Slc12a7	T	C	13: 73,785,162	V113A	probably benign	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc37a2	A	T	9: 37,238,214		probably null	Het
Steap1	G	A	5: 5,740,816	S44L	probably benign	Het
Sucnr1	C	T	3: 60,086,734	R228C	probably damaging	Het
Sult3a1	G	A	10: 33,866,521	G48D	probably damaging	Het
Syn3	A	T	10: 86,467,027	V88D	probably damaging	Het
Syne1	T	C	10: 5,108,622	D7297G	probably benign	Het
Tmco5	T	C	2: 116,880,253	I18T	probably damaging	Het
Trpc1	A	G	9: 95,726,548	L230P	probably damaging	Het
Ttn	T	C	2: 76,889,441	N7108S	unknown	Het
Ubr5	A	G	15: 38,024,837	V559A		Het
Ugt1a7c	T	C	1: 88,095,251	V44A	possibly damaging	Het
Vmn2r60	A	T	7: 42,141,070	S494C	possibly 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
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'- TGTTGCCATGGAGAGCATTTAG -3'
(R):5'- GAACAGTCCTGCAGAAGCTGTG -3'

Sequencing Primer
(F):5'- GCCATGGAGAGCATTTAGTCATAAC -3'
(R):5'- CCTGCAGAAGCTGTGTTAGTC -3'

Posted On

2020-09-02