Mutagenetix > Incidental Mutation

Incidental Mutation 'R8244:Ankar'

640849

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

067672-MU

Accession Numbers

Essential gene?

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

Stock #

R8244 (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 72651024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1216 (I1216T)

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: I1216T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: I1216T

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: I1215T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: I998T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,571,579	I133T	probably damaging	Het
Ahnak	C	T	19: 9,015,673	P4774S	probably benign	Het
Alg5	A	G	3: 54,738,800	I29V	probably benign	Het
Ap5z1	A	T	5: 142,473,980	T462S	possibly damaging	Het
Apc2	A	T	10: 80,315,332	R2073S	probably damaging	Het
Apob	A	T	12: 8,010,548	E3010V	probably damaging	Het
Arid3c	T	G	4: 41,729,997	E66A	possibly damaging	Het
Atf7	A	G	15: 102,528,866	S54P	unknown	Het
Cbx3	C	T	6: 51,475,370	T55I	probably benign	Het
Clptm1	A	T	7: 19,638,991	F205I	possibly damaging	Het
Cramp1l	T	A	17: 24,971,410	I1117F	probably damaging	Het
Dgkq	A	G	5: 108,648,712	*935Q	probably null	Het
Dock2	A	T	11: 34,695,453	F511I	probably damaging	Het
Efr3a	G	A	15: 65,815,368	R15H	probably damaging	Het
Ehmt2	A	G	17: 34,905,262	D385G	probably damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Gfpt1	T	A	6: 87,063,631		probably benign	Het
Gm13103	T	C	4: 143,853,284	Y480H	probably damaging	Het
Gm21680	T	C	5: 25,968,985	E207G	probably damaging	Het
Igsf23	A	T	7: 19,941,873	C141S	possibly damaging	Het
Ktn1	A	T	14: 47,674,823	E349V	probably null	Het
Lrp1b	T	C	2: 41,506,782	D424G		Het
Lrrc9	A	G	12: 72,499,610	I1190V	probably benign	Het
Lztfl1	T	A	9: 123,712,449	I102F	probably damaging	Het
Mapk11	G	T	15: 89,145,804	T203K	possibly damaging	Het
Mgam	T	A	6: 40,750,586	I1315N	probably damaging	Het
Nf1	T	C	11: 79,440,924	M695T	probably benign	Het
Pdcd4	A	G	19: 53,907,534	T8A	probably benign	Het
Ptx4	A	G	17: 25,122,865	K105E	possibly damaging	Het
Pxn	C	T	5: 115,552,243	P381L	probably damaging	Het
Rtn4rl1	T	C	11: 75,265,450	L236P	probably damaging	Het
Sall3	G	A	18: 80,973,754	P320S	probably benign	Het
Sh2b2	G	T	5: 136,227,437	S247*	probably null	Het
Sim2	T	A	16: 94,109,363	V208E	probably damaging	Het
Slc44a4	T	C	17: 34,921,572	L247P	probably damaging	Het
Sox1	GGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGG	8: 12,396,468		probably benign	Het
Tacc2	A	G	7: 130,728,676	D1937G	probably damaging	Het
Tmem131	T	C	1: 36,808,893	N1158S	probably benign	Het
Tns1	G	T	1: 73,937,251	A1146E	probably damaging	Het
Tom1l1	T	C	11: 90,657,821	E308G	probably benign	Het
Ttn	T	A	2: 76,828,707	K12262*	probably null	Het
Vps13b	G	T	15: 35,917,203	G3731V	probably damaging	Het
Wdr20	G	A	12: 110,793,642	E321K	probably benign	Het
Zfp516	G	T	18: 82,956,333	G219C	probably damaging	Het
Zfp979	A	T	4: 147,613,476	C259S	possibly damaging	Het
Zscan20	T	C	4: 128,585,966	T911A	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
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'- AGTCTTGGACACAAAGCTTGTTC -3'
(R):5'- GCCTGTCATAGTCACTGTTGTG -3'

Sequencing Primer
(F):5'- AAGCTTGTTCCTTTGTATAGATGTC -3'
(R):5'- AGGGGAGTAATGTAACCTGTGCTC -3'

Posted On

2020-07-28