Mutagenetix > Incidental Mutation

Incidental Mutation 'R9228:Ankar'

699972

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: 0.059) question?

Stock #

R9228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72674051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 693 (V693A)

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: V693A

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V693A

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: V692A

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: V475A

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0934

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	A	3: 122,924,625	A56T	probably benign	Het
2310050C09Rik	C	T	3: 92,868,644	G244D	probably benign	Het
4930438A08Rik	A	T	11: 58,287,470	I119F		Het
Abca12	A	T	1: 71,293,440	I1254N	probably damaging	Het
Abcb11	G	T	2: 69,308,465	Y157*	probably null	Het
Adcy7	G	A	8: 88,318,047		probably null	Het
Adnp	A	G	2: 168,184,878	Y166H	probably damaging	Het
Adprhl1	A	G	8: 13,225,279	V493A	probably benign	Het
Ahctf1	T	C	1: 179,784,120	T562A	probably benign	Het
Amotl1	T	A	9: 14,593,024	N296I	possibly damaging	Het
Ankrd16	T	C	2: 11,781,507	V189A	probably benign	Het
Bmp1	A	G	14: 70,519,898	L47P	probably benign	Het
Cacna2d4	A	G	6: 119,271,515	D429G	probably benign	Het
Cadps2	T	A	6: 23,688,928	E127D	probably benign	Het
Cd109	A	T	9: 78,669,760	I580F	possibly damaging	Het
Cdrt4	T	A	11: 62,951,298	I2N	unknown	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Chuk	A	T	19: 44,107,350	W15R	probably damaging	Het
Cpvl	C	T	6: 53,974,794	M1I	probably null	Het
Cyfip1	A	G	7: 55,900,010	M642V	probably damaging	Het
Dhh	T	A	15: 98,897,876	R133*	probably null	Het
Dnmt3b	G	A	2: 153,666,060	V212M	probably benign	Het
Dync2li1	A	G	17: 84,649,709	S301G	probably benign	Het
Epas1	A	C	17: 86,826,562	I500L	possibly damaging	Het
Ephb4	A	T	5: 137,354,562	I136F	possibly damaging	Het
Foxg1	T	C	12: 49,384,537	F18L	unknown	Het
Frem1	T	C	4: 83,001,820	E432G	probably damaging	Het
Gpld1	A	T	13: 24,952,917	S73C	probably damaging	Het
Hddc3	A	G	7: 80,343,580	I52V	probably benign	Het
Hmgcll1	A	T	9: 76,084,450	T252S	probably damaging	Het
Igsf10	G	A	3: 59,336,422	R164W	probably damaging	Het
Jph2	A	G	2: 163,338,686	V675A	probably benign	Het
Kifap3	T	C	1: 163,862,097	F550S	probably benign	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
L1td1	T	C	4: 98,737,695	V643A	possibly damaging	Het
L3mbtl3	C	T	10: 26,336,257	M255I	unknown	Het
Layn	T	A	9: 51,057,537	D302V	probably damaging	Het
Lpcat4	A	G	2: 112,242,073	I136V	possibly damaging	Het
Lrp1	T	A	10: 127,546,938	D3658V	probably damaging	Het
Metap1d	T	C	2: 71,522,556	L243S	possibly damaging	Het
Midn	T	A	10: 80,154,441	H315Q	probably damaging	Het
Myb	C	T	10: 21,154,713	D62N	probably benign	Het
Myh2	T	C	11: 67,186,696	S886P	probably benign	Het
Nemf	T	C	12: 69,341,319	I396V	probably damaging	Het
Nemp1	T	G	10: 127,689,358	V127G	possibly damaging	Het
Nkx3-1	C	T	14: 69,190,778	T25M	possibly damaging	Het
Nmral1	A	C	16: 4,713,767	L208R	probably damaging	Het
Nol6	A	T	4: 41,116,422	I989N	probably benign	Het
Olfr1126	T	A	2: 87,457,563	C133S	possibly damaging	Het
Palld	A	T	8: 61,720,537	S363T	probably damaging	Het
Pcdha11	A	G	18: 37,011,459	D201G	probably damaging	Het
Per2	A	G	1: 91,438,359	C339R	probably damaging	Het
Phactr4	T	C	4: 132,370,563	T455A	possibly damaging	Het
Phc2	T	C	4: 128,723,269	I445T	probably damaging	Het
Pmepa1	T	C	2: 173,276,169	T6A	probably benign	Het
Polr1a	T	C	6: 71,954,771	F945L	probably damaging	Het
Ppp2r5e	T	A	12: 75,593,289	K13*	probably null	Het
Ptafr	T	C	4: 132,579,302	M1T	probably null	Het
Rbms1	G	A	2: 60,779,743	P208S	probably benign	Het
Scg3	T	A	9: 75,651,673	I419F	probably damaging	Het
Scn1a	T	C	2: 66,299,755	T219A	probably benign	Het
Sec14l4	A	G	11: 4,039,977	D92G	probably damaging	Het
Senp3	G	T	11: 69,678,259	Q359K	probably damaging	Het
Sirt1	T	C	10: 63,337,078	D142G	probably damaging	Het
Skint2	T	C	4: 112,625,842	M148T	possibly damaging	Het
Skiv2l2	A	T	13: 112,914,354		probably null	Het
Slc30a10	T	A	1: 185,455,194	M44K	probably damaging	Het
Snai2	T	A	16: 14,706,928	D99E	probably damaging	Het
Spg7	A	G	8: 123,080,669	K395E	possibly damaging	Het
Sphk2	G	A	7: 45,710,913	H556Y	possibly damaging	Het
Supt6	A	C	11: 78,225,786	F637L	probably benign	Het
Tcam1	A	G	11: 106,286,466	N428S	probably damaging	Het
Tctn3	C	T	19: 40,608,248	R276K	probably benign	Het
Timm29	G	A	9: 21,593,360	R108H	probably damaging	Het
Tlr9	A	T	9: 106,225,553	E681V	possibly damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tns3	T	C	11: 8,450,094	K1169E	probably damaging	Het
Trim72	A	C	7: 128,009,143	D271A	possibly damaging	Het
Trpv4	A	T	5: 114,634,561	D369E	probably benign	Het
Ttn	A	G	2: 76,752,848	L22567P	probably damaging	Het
Uimc1	G	A	13: 55,075,839	P207S	probably damaging	Het
Unc5d	A	T	8: 28,675,420	V781E	probably damaging	Het
Upk3bl	C	T	5: 136,057,222	P4L	unknown	Het
Vmn1r201	A	G	13: 22,475,500	N295D	probably benign	Het
Vmn2r69	A	G	7: 85,415,489	I63T	probably benign	Het
Zfyve28	T	C	5: 34,217,444	T409A	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
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
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'- GTACTGTACTATTGCTGGTTTCAATGC -3'
(R):5'- AAGGCAAATCTGTGGAATTCAG -3'

Sequencing Primer
(F):5'- CCACCTTTGCACATGGAA -3'
(R):5'- AGAAATGTAATGCTATACCAGTGTTG -3'

Posted On

2022-02-07