Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02606:Ankar'

300292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02606

Quality Score

Status

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72690285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 82 (A82T)

Ref Sequence

ENSEMBL: ENSMUSP00000148555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573] [ENSMUST00000212710]

AlphaFold

A2RT91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053499
AA Change: A234T

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: A234T

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: A234T

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211962

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: A16T

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212710
AA Change: A82T

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,242,781	N74I	probably benign	Het
Abr	T	C	11: 76,479,164	K75R	probably damaging	Het
Adcy10	A	C	1: 165,519,518	D368A	possibly damaging	Het
Alas1	A	G	9: 106,241,110		probably benign	Het
Alms1	T	A	6: 85,599,967	D168E	probably benign	Het
Atp2c2	C	T	8: 119,730,274	T205I	probably benign	Het
Atp9a	A	T	2: 168,652,668	L639Q	probably damaging	Het
Btf3l4	T	C	4: 108,818,214	D134G	probably benign	Het
Cacna1s	T	C	1: 136,079,519	C425R	probably damaging	Het
Ccdc105	A	G	10: 78,748,466	Y372H	probably benign	Het
Cct6b	G	T	11: 82,736,445	T322N	probably damaging	Het
Col19a1	G	A	1: 24,534,116	R192*	probably null	Het
Cyp8b1	A	T	9: 121,915,735	F177Y	probably damaging	Het
Dnajc11	T	A	4: 151,979,484	N474K	probably benign	Het
Dusp16	T	C	6: 134,761,036	E13G	probably damaging	Het
Ephx2	T	C	14: 66,086,292	N397S	probably damaging	Het
Fancm	T	C	12: 65,076,139	V145A	possibly damaging	Het
Fiz1	A	G	7: 5,009,159	L120P	possibly damaging	Het
Galnt6	C	T	15: 100,714,219	V181M	probably damaging	Het
Ginm1	A	G	10: 7,770,399	V279A	probably damaging	Het
Gja10	T	G	4: 32,601,509	I292L	probably benign	Het
Gnb3	T	C	6: 124,837,415	S136G	probably benign	Het
Gramd1a	A	T	7: 31,134,515	V495E	probably damaging	Het
Il1rn	G	T	2: 24,345,450		probably benign	Het
Itpr3	A	G	17: 27,114,512		probably benign	Het
Kctd1	A	G	18: 15,062,880	S229P	possibly damaging	Het
Kdm4a	T	C	4: 118,160,289	T527A	probably benign	Het
Kif14	C	T	1: 136,496,593	A982V	probably damaging	Het
Klf6	A	G	13: 5,866,735	K293R	probably damaging	Het
Letmd1	A	G	15: 100,475,091	D92G	probably damaging	Het
Lmod1	G	A	1: 135,364,480	V358M	probably benign	Het
Ndufs1	A	T	1: 63,159,852	D295E	probably damaging	Het
Nek4	A	G	14: 30,963,959	N283S	probably benign	Het
Nhsl1	A	G	10: 18,511,637	T220A	probably damaging	Het
Nucks1	T	A	1: 131,924,625	D71E	probably damaging	Het
Olfr1537	C	A	9: 39,238,194	V77F	probably damaging	Het
Olfr732	T	C	14: 50,282,073	Y60C	probably damaging	Het
Pkhd1l1	A	G	15: 44,589,456	T3926A	probably benign	Het
Pptc7	T	A	5: 122,313,588		probably benign	Het
Prdm11	A	G	2: 92,975,603	V334A	probably benign	Het
Ptdss2	C	A	7: 141,152,998	C231*	probably null	Het
R3hdm1	C	T	1: 128,190,719	P570S	probably benign	Het
Rlbp1	T	C	7: 79,377,289	T208A	possibly damaging	Het
Rnaseh2a	T	G	8: 84,960,094	D142A	probably damaging	Het
Rufy4	C	T	1: 74,133,350		probably benign	Het
Tmem56	G	T	3: 121,228,364	D128E	possibly damaging	Het
Ttn	A	G	2: 76,816,221	I11081T	possibly damaging	Het
Ubap2l	A	T	3: 90,038,428	S173R	probably damaging	Het
Vmn1r80	A	G	7: 12,193,032	N23S	probably damaging	Het
Vwce	C	A	19: 10,655,348		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
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
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

Posted On

2015-04-16