Mutagenetix > Incidental Mutation

Incidental Mutation 'R6488:Ankar'

522462

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 #

R6488 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 72681808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148640 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably null
Transcript: ENSMUST00000053499

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342

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 null
Transcript: ENSMUST00000211837

Predicted Effect

probably null
Transcript: ENSMUST00000212573

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,625,874	Q334*	probably null	Het
4933406M09Rik	T	A	1: 134,390,888	V466D	probably damaging	Het
Abhd15	T	C	11: 77,516,022	F275S	possibly damaging	Het
Adamts7	A	G	9: 90,171,482	T27A	probably benign	Het
Ap2a2	T	C	7: 141,602,307	V183A	probably benign	Het
Arhgef37	G	A	18: 61,518,052	A134V	probably benign	Het
Col3a1	C	A	1: 45,331,534		probably benign	Het
Cxcr5	A	G	9: 44,513,979	V127A	probably damaging	Het
Eif4b	T	A	15: 102,092,987		probably benign	Het
Ext2	A	G	2: 93,806,085	V228A	probably damaging	Het
Fam83h	T	C	15: 76,002,053	E1145G	possibly damaging	Het
Fcgbp	A	G	7: 28,093,538	D989G	probably damaging	Het
Fchsd1	T	C	18: 37,967,268		probably null	Het
Fcnb	T	C	2: 28,078,289	K219E	probably damaging	Het
Fndc7	T	C	3: 108,870,575	E355G	probably damaging	Het
Glis3	T	C	19: 28,298,853	H746R	probably benign	Het
Glod4	A	G	11: 76,237,785	V74A	probably damaging	Het
Gm10436	T	C	12: 88,177,587	H152R	possibly damaging	Het
Gpc6	T	C	14: 117,964,713	I445T	possibly damaging	Het
Hdlbp	T	C	1: 93,428,224	D337G	probably damaging	Het
Hnf1a	T	C	5: 114,955,961	T190A	probably benign	Het
Iqgap1	G	C	7: 80,730,326	T1129R	probably benign	Het
Kcnc3	T	C	7: 44,595,182	F299L	possibly damaging	Het
Kif1bp	C	A	10: 62,559,658		probably null	Het
Kif26b	T	C	1: 178,529,573	V4A	unknown	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Krtap4-1	G	T	11: 99,628,077	R36S	unknown	Het
Lman1l	A	G	9: 57,620,643	S10P	possibly damaging	Het
Lrpprc	T	C	17: 84,751,353	N693S	probably damaging	Het
Lrrc49	A	T	9: 60,602,633	F157L	probably damaging	Het
Mettl22	T	C	16: 8,487,361	F293L	probably damaging	Het
Mga	T	A	2: 119,960,907	N2424K	probably damaging	Het
Mpdz	G	T	4: 81,287,733	A1784E	probably benign	Het
Mpv17l	G	A	16: 13,946,588		probably null	Het
Mtus1	G	A	8: 41,041,508	S29L	possibly damaging	Het
Myo15	A	T	11: 60,478,487	H691L	possibly damaging	Het
Nbea	T	C	3: 55,717,843	T2276A	probably damaging	Het
Npas4	A	G	19: 4,985,983	S718P	probably damaging	Het
Ntrk2	T	A	13: 58,861,356	N320K	possibly damaging	Het
Nup214	T	A	2: 31,991,372	I414N	possibly damaging	Het
Oas2	A	G	5: 120,738,363	F15S	probably damaging	Het
Olfr1474	T	C	19: 13,471,617	Y216H	probably damaging	Het
Olfr625-ps1	T	C	7: 103,683,078	I110T	probably damaging	Het
Pabpc6	A	G	17: 9,669,599	Y8H	probably damaging	Het
Pbx1	T	A	1: 168,191,395	N294Y	probably damaging	Het
Pcyt1a	T	C	16: 32,467,081	M190T	probably damaging	Het
Pogk	T	C	1: 166,399,422	I387V	possibly damaging	Het
Ppp6r2	T	C	15: 89,268,538	L294P	probably benign	Het
Ptprn2	T	A	12: 116,872,038	I331K	probably benign	Het
Ptpro	T	G	6: 137,393,675	Y591*	probably null	Het
Ptprz1	T	A	6: 23,001,517	L1202*	probably null	Het
Rab37	A	G	11: 115,157,963	T73A	probably benign	Het
Rad51ap2	T	G	12: 11,458,160	S694R	possibly damaging	Het
Rb1cc1	T	A	1: 6,270,727	D148E	probably damaging	Het
Rraga	G	A	4: 86,576,328	R137H	probably damaging	Het
Serpinf2	A	G	11: 75,437,503	V73A	probably benign	Het
Siglec1	T	C	2: 131,081,307	N506S	probably damaging	Het
Slc35e4	T	C	11: 3,912,602	T196A	possibly damaging	Het
St6galnac3	C	T	3: 153,411,757	A110T	probably damaging	Het
Thsd1	T	C	8: 22,243,717	V260A	probably benign	Het
Tpbg	T	A	9: 85,844,485	V169D	possibly damaging	Het
Trav16n	A	G	14: 53,351,585	E106G	probably benign	Het
Vmn1r219	T	C	13: 23,162,965	I108T	probably benign	Het
Vmn2r50	T	C	7: 10,037,717	I686V	probably damaging	Het
Zdhhc20	C	T	14: 57,840,832	R329K	probably benign	Het
Zfp64	A	G	2: 168,935,209		probably null	Het
Zfp941	C	T	7: 140,812,750	R232H	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
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'- TATCTGGTGCTAGGGCCTGAAC -3'
(R):5'- GCTACTATGTGATCCATTTTGAGCTTG -3'

Sequencing Primer
(F):5'- TAGGGCCTGAACTCTCTGAG -3'
(R):5'- GAGCTTGAAATTTTCTACCAGCAAC -3'

Posted On

2018-06-06