Mutagenetix > Incidental Mutation

Incidental Mutation 'R7221:Ankar'

561782

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 #

R7221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72650231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 1247 (G1247D)

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: G1247D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: G1247D

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: G1246D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212573
AA Change: G1029D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

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

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	G	3: 108,475,001	D232A	possibly damaging	Het
Abr	A	C	11: 76,423,161	M720R	probably benign	Het
Acad10	G	A	5: 121,630,210	T761M	probably damaging	Het
Agxt	G	T	1: 93,137,901	G164V	possibly damaging	Het
Bptf	A	C	11: 107,054,832	L2527R	probably damaging	Het
Brinp2	T	C	1: 158,266,547	H195R	possibly damaging	Het
C130079G13Rik	A	G	3: 59,928,933		probably benign	Het
Cacna2d4	G	T	6: 119,236,663	R14S	probably benign	Het
Cep126	A	T	9: 8,100,987	C515*	probably null	Het
Chia1	A	T	3: 106,131,920	N442I	probably damaging	Het
Clasp2	A	G	9: 113,852,757	D327G	probably damaging	Het
Cnbd2	T	C	2: 156,373,661	F519L	probably benign	Het
Cntrl	T	A	2: 35,151,857	F1214I	possibly damaging	Het
Cul9	A	T	17: 46,528,565	M829K	probably damaging	Het
Cyp4b1	T	C	4: 115,635,978	Q223R	possibly damaging	Het
Defb37	A	T	8: 18,990,972	M1K	probably null	Het
Dnah7c	A	T	1: 46,455,777	Q55L	possibly damaging	Het
Eif2b4	A	T	5: 31,187,787	D463E	possibly damaging	Het
Elovl1	C	T	4: 118,431,614	H167Y	probably damaging	Het
Emb	T	A	13: 117,267,477	L255Q	probably damaging	Het
Eogt	T	C	6: 97,112,724	Y465C	probably damaging	Het
Erc2	A	G	14: 27,653,158	H111R	probably damaging	Het
Fam234b	T	C	6: 135,228,531	F498S	probably damaging	Het
Fgfr3	GAGGCTGGCAGCGTGTACGCAGGC	GAGGC	5: 33,732,748		probably null	Het
Flrt3	T	A	2: 140,661,170	E179D	probably damaging	Het
Fndc3a	T	C	14: 72,556,157	R993G	probably benign	Het
Gm11639	A	G	11: 104,900,606	N2882S	probably benign	Het
Gm13762	A	G	2: 88,973,153	V246A	probably damaging	Het
Gm14325	T	C	2: 177,834,610	T14A	probably damaging	Het
Gm5464	T	A	14: 66,869,232	V106D	unknown	Het
Gm7697	T	G	8: 69,522,664	D50A	probably benign	Het
Gpatch11	T	A	17: 78,842,117	I182N	possibly damaging	Het
Grm6	A	G	11: 50,863,043	R725G	probably damaging	Het
Hap1	A	T	11: 100,348,829	M588K	probably benign	Het
Icam2	A	G	11: 106,382,442	F15L	probably benign	Het
Ints8	A	G	4: 11,225,613	M648T	probably benign	Het
Ipo11	A	T	13: 106,892,557	L296Q	probably damaging	Het
Kirrel	G	A	3: 87,086,397	Q518*	probably null	Het
Krt18	G	T	15: 102,029,532	D155Y	possibly damaging	Het
Lctl	A	T	9: 64,118,935	K91*	probably null	Het
Marf1	C	A	16: 14,142,485	R565L	probably damaging	Het
Med13	A	T	11: 86,288,095	D1458E	probably benign	Het
Mroh8	T	A	2: 157,229,917	Y556F	probably benign	Het
Muc16	C	T	9: 18,642,199	G4266D	probably benign	Het
Nsrp1	A	T	11: 77,048,423	F182I	probably damaging	Het
Obox3	A	T	7: 15,626,058	Y229N	probably benign	Het
Olfr1184	T	A	2: 88,487,629	V299D	probably damaging	Het
Olfr124	A	G	17: 37,805,561	K139E	probably benign	Het
Olfr1247	T	C	2: 89,609,928	Y58C	probably damaging	Het
Olfr1359	T	C	13: 21,703,102	S34P	probably damaging	Het
Olfr26	A	G	9: 38,855,242	Y60C	probably damaging	Het
Olfr746	A	T	14: 50,654,071	Y278F	probably damaging	Het
Pabpc2	T	A	18: 39,773,910	V76D	possibly damaging	Het
Parp9	T	C	16: 35,953,701	W348R	probably benign	Het
Pdp1	T	C	4: 11,961,004	T455A	probably damaging	Het
Phactr2	A	C	10: 13,247,039	D446E	possibly damaging	Het
Pi4kb	T	C	3: 94,994,189	L389P	probably damaging	Het
Pla2g4f	C	T	2: 120,300,995	R749H	probably benign	Het
Plec	A	G	15: 76,175,774	V3321A	probably damaging	Het
Plod2	T	C	9: 92,584,527	V180A	probably damaging	Het
Plppr5	A	G	3: 117,620,969	I80V	probably damaging	Het
Rubcn	T	C	16: 32,866,923		probably null	Het
Sacs	T	C	14: 61,208,806	V2767A	probably damaging	Het
Selenbp2	C	G	3: 94,703,826	Y414*	probably null	Het
Slc45a4	A	T	15: 73,586,410	M430K	probably benign	Het
Smg1	A	G	7: 118,182,797	L1145P	possibly damaging	Het
Spns2	A	G	11: 72,456,916	V316A	probably benign	Het
Srl	T	A	16: 4,482,947	E753D	probably damaging	Het
Thada	T	C	17: 84,464,366	T23A	possibly damaging	Het
Tmem231	T	C	8: 111,933,676	T31A	probably benign	Het
Tpr	C	T	1: 150,446,178	T2321M	possibly damaging	Het
Ttn	T	A	2: 76,941,851	N2615I	unknown	Het
Vmn1r41	A	G	6: 89,747,052	I192V	probably benign	Het
Vmn2r83	A	T	10: 79,480,167	T466S	probably benign	Het
Vnn1	A	G	10: 23,895,054	D60G	probably benign	Het
Wiz	G	A	17: 32,359,165	P449S	probably benign	Het
Zic1	A	G	9: 91,364,732	S96P	probably damaging	Het
Zw10	T	A	9: 49,069,712	S471T	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
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'- GGTTACTGTTTGCAGCACTTTC -3'
(R):5'- TACAGAAATGCAATCAACTACAGGG -3'

Sequencing Primer
(F):5'- GCTGGTCTCGAACTCAGAAATCTG -3'
(R):5'- TCAACTACAGGGAACAATTATCCTG -3'

Posted On

2019-06-26