Mutagenetix > Incidental Mutation

Incidental Mutation 'R7384:Ankar'

572918

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72658465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1060 (I1060L)

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: I1060L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: I1060L

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: I1059L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: I842L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,463,468		probably null	Het
Abca13	C	A	11: 9,333,257	S3226R	probably damaging	Het
Abhd14b	A	G	9: 106,450,141	I41V	probably benign	Het
Acot2	T	C	12: 83,992,667	S317P	probably benign	Het
Acp7	T	C	7: 28,615,088	E284G	possibly damaging	Het
Adamts5	A	G	16: 85,899,826	F148L	probably benign	Het
Adcy10	C	T	1: 165,576,608	P1611S	unknown	Het
Agr2	A	G	12: 35,995,924	T57A	probably damaging	Het
Ano10	T	A	9: 122,176,343	D77V	unknown	Het
Apc2	G	A	10: 80,312,624	V1171I	probably damaging	Het
Apoa4	G	A	9: 46,241,474	R19Q	not run	Het
Arhgap33	A	G	7: 30,527,271	S504P	probably damaging	Het
Atg2a	T	C	19: 6,261,677	V1862A	probably damaging	Het
Atp7b	T	C	8: 22,022,315	S511G	probably benign	Het
Bcl10	A	G	3: 145,933,040	K146E	possibly damaging	Het
Bsg	A	T	10: 79,709,797	D181V	probably damaging	Het
Btg4	T	C	9: 51,119,113	V171A	probably benign	Het
Cdh8	A	C	8: 99,230,506	N188K	probably benign	Het
Cflar	C	A	1: 58,752,576	T346K		Het
Chrna5	T	C	9: 55,004,833	S306P	probably damaging	Het
Cldn20	G	A	17: 3,532,611	G20R	probably damaging	Het
Clns1a	G	A	7: 97,696,781	A18T	probably benign	Het
D130043K22Rik	A	G	13: 24,882,605	Y795C	probably damaging	Het
Dync1li2	A	C	8: 104,442,543	S38A	probably benign	Het
Dysf	A	G	6: 84,114,105	E1043G	probably benign	Het
Eral1	A	G	11: 78,074,101	I422T	possibly damaging	Het
Exoc3	G	A	13: 74,172,156	P729S	probably benign	Het
Eya1	T	A	1: 14,229,512	Y339F	probably damaging	Het
Faah	G	T	4: 116,005,167	N206K	probably damaging	Het
Fem1a	A	G	17: 56,257,537	E210G	probably benign	Het
Gcc2	T	A	10: 58,269,964	S341T	probably damaging	Het
Gfpt2	A	T	11: 49,810,990	I123F	possibly damaging	Het
Gm21188	T	A	13: 120,035,261	Q24L	possibly damaging	Het
Gm3047	T	A	14: 4,558,271	N164K	probably damaging	Het
Gm3327	A	G	14: 44,124,877	K78E		Het
Gm438	T	A	4: 144,780,621	I65F	possibly damaging	Het
Herpud1	A	G	8: 94,389,377	I57V	probably damaging	Het
Homer1	A	T	13: 93,393,039	R285S	possibly damaging	Het
Hps6	T	A	19: 46,004,017	V131E	possibly damaging	Het
Il1r1	T	A	1: 40,282,261	I11N	possibly damaging	Het
Jakmip1	T	A	5: 37,173,207	D410E	possibly damaging	Het
Kif3a	T	A	11: 53,578,854	F97L	probably damaging	Het
Klf11	C	T	12: 24,653,743	T76I	probably damaging	Het
Ldlr	A	C	9: 21,739,794	T503P	probably benign	Het
Mapk3	G	C	7: 126,764,291	R279P		Het
Mb21d2	A	T	16: 28,828,912	D103E	probably benign	Het
Mfsd7a	A	T	5: 108,446,060	I61K	probably damaging	Het
Msh4	T	A	3: 153,888,748	M333L	probably benign	Het
Mycbp2	A	G	14: 103,276,393	I836T	probably damaging	Het
Myh1	A	T	11: 67,224,375	E1912V	possibly damaging	Het
Ncapd2	A	G	6: 125,173,401	V887A	probably benign	Het
Nlrp4a	G	A	7: 26,449,538	R190Q	not run	Het
Nop53	T	C	7: 15,939,495	T344A	probably damaging	Het
Olfr235	T	C	19: 12,269,076	V282A	possibly damaging	Het
Olfr457	A	T	6: 42,471,323	L285Q	possibly damaging	Het
Olfr871	A	G	9: 20,212,745	Y132C	probably damaging	Het
Pcyox1l	A	C	18: 61,698,390	V266G	probably damaging	Het
Pde5a	A	G	3: 122,825,000	Y654C	probably damaging	Het
Polq	T	C	16: 37,029,418	S345P	probably damaging	Het
Prdm1	A	T	10: 44,458,507	C8S	probably benign	Het
Psg17	T	A	7: 18,818,660	Q230L	possibly damaging	Het
Rab11fip5	A	T	6: 85,348,330	S332T	possibly damaging	Het
Rac2	T	A	15: 78,561,931	K186*	probably null	Het
S100pbp	T	C	4: 129,181,909	N208D	probably benign	Het
Scaf11	A	T	15: 96,420,387	V432D	possibly damaging	Het
Slc34a1	G	T	13: 55,402,934	C225F	probably benign	Het
Slc35e2	A	T	4: 155,610,632	M152L	probably benign	Het
Slc9a4	T	A	1: 40,612,251	I563K	probably benign	Het
Sppl3	T	G	5: 115,061,641		probably null	Het
Stam	T	C	2: 14,134,430	F301L	probably benign	Het
Supt16	G	A	14: 52,181,162	R213W	probably damaging	Het
Tbc1d8	A	T	1: 39,394,098	D334E	probably benign	Het
Tmem87a	C	T	2: 120,371,523		probably null	Het
Tnk1	T	C	11: 69,851,621	Y661C	probably damaging	Het
Tnpo2	G	A	8: 85,050,119	R485H	probably damaging	Het
Tnxb	A	G	17: 34,718,518	D2947G	probably damaging	Het
Traf4	A	G	11: 78,160,791		probably null	Het
Trappc10	A	T	10: 78,209,384	M490K	possibly damaging	Het
Trav12-1	A	G	14: 53,538,536	T49A	probably benign	Het
Ttc37	A	C	13: 76,150,735	S1187R	possibly damaging	Het
Twistnb	G	T	12: 33,433,632	G128W	probably damaging	Het
Ubap1l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	9: 65,371,750		probably benign	Het
Unc79	G	T	12: 103,171,578	V2485L	probably benign	Het
Ush2a	T	C	1: 188,400,163	S861P	probably damaging	Het
Vcam1	A	G	3: 116,117,228	V507A	possibly damaging	Het
Vmn1r218	A	G	13: 23,136,725	M81V	probably benign	Het
Zfp652	G	T	11: 95,753,004	V343L	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
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'- TTCTTTTGCAACAAAGGCCAC -3'
(R):5'- CATCAGCTAAGATGCAGTATGTAGG -3'

Sequencing Primer
(F):5'- TGTCACCATTTTAACTGACCAAG -3'
(R):5'- TAAGATGCAGTATGTAGGTAAGTTGC -3'

Posted On

2019-09-13