Mutagenetix > Incidental Mutation

Incidental Mutation 'R5345:Ankar'

422537

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

042924-MU

Accession Numbers

Essential gene?

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

Stock #

R5345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72670151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 735 (M735T)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053499
AA Change: M735T

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: M735T

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

possibly damaging
Transcript: ENSMUST00000211837
AA Change: M734T

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212573
AA Change: M517T

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.0858

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	C	T	18: 12,179,177	T158M	probably benign	Het
Abl1	T	A	2: 31,797,047	S519T	probably damaging	Het
Acap2	A	G	16: 31,108,126	S524P	probably benign	Het
Acot1	T	A	12: 84,017,168	I350N	probably damaging	Het
Adam8	A	G	7: 139,987,639	V397A	probably benign	Het
B020031M17Rik	A	T	13: 119,949,848	V74E	probably damaging	Het
Cacna1c	A	G	6: 118,656,536		probably null	Het
Cdc25b	A	G	2: 131,192,596	S222G	probably benign	Het
Celsr3	T	C	9: 108,832,124	S1390P	probably damaging	Het
Clca4a	T	G	3: 144,970,461	D104A	probably damaging	Het
Clcn6	A	T	4: 148,038,749		probably benign	Het
Coq8b	A	G	7: 27,250,348	T320A	probably benign	Het
Cspg5	A	T	9: 110,246,630	M145L	probably benign	Het
Cyp2c67	T	A	19: 39,626,232	I284F	probably benign	Het
Eya4	T	C	10: 23,110,048	I565V	probably benign	Het
Fbxw11	A	G	11: 32,738,471	N410S	probably damaging	Het
Gabrb2	C	T	11: 42,626,809	A448V	possibly damaging	Het
Gm11487	A	T	4: 73,401,277	W77R	probably damaging	Het
Hectd4	A	G	5: 121,263,974	D375G	possibly damaging	Het
Itsn2	T	C	12: 4,672,783	V1073A	probably damaging	Het
Kif5c	A	G	2: 49,723,066	T139A	probably benign	Het
L1td1	G	A	4: 98,736,447	G293D	probably damaging	Het
Lama1	A	G	17: 67,817,563	M2873V	probably benign	Het
Myo15	A	G	11: 60,497,538	R1960G	probably damaging	Het
Nbeal1	T	C	1: 60,328,210		probably null	Het
Ndufb4	A	G	16: 37,654,178		probably null	Het
Nup153	A	T	13: 46,686,865	L1089*	probably null	Het
Olfr1107	A	G	2: 87,071,492	V214A	possibly damaging	Het
Olfr1512	G	A	14: 52,372,268	R262*	probably null	Het
Olfr168	T	A	16: 19,530,777	I48F	probably damaging	Het
P2rx1	A	G	11: 73,009,230	T158A	probably damaging	Het
Park7	A	G	4: 150,908,423		probably benign	Het
Parl	A	T	16: 20,298,142	F102I	probably damaging	Het
Plxnc1	T	A	10: 94,849,969	H720L	probably benign	Het
Ptpn4	A	G	1: 119,765,477	S140P	probably benign	Het
Rel	A	G	11: 23,742,462	S524P	probably benign	Het
Ripply2	A	G	9: 87,019,726		probably null	Het
Rps4l-ps	T	C	7: 114,927,198		noncoding transcript	Het
Rtn4ip1	T	C	10: 43,932,470	L81P	probably damaging	Het
Sap130	T	C	18: 31,648,198	L138P	probably benign	Het
Scp2	A	T	4: 108,055,579		probably null	Het
Sec24c	T	A	14: 20,693,220	M970K	probably benign	Het
Setd5	C	T	6: 113,116,007	P340L	probably damaging	Het
Sgcg	A	T	14: 61,245,769	M61K	probably damaging	Het
Slc22a27	C	G	19: 7,865,938	A359P	probably damaging	Het
Slc34a1	A	G	13: 55,400,518	R21G	probably benign	Het
Slc7a14	A	C	3: 31,223,857	L533W	probably damaging	Het
Srsf9	A	G	5: 115,330,536	D77G	probably benign	Het
Tab1	A	T	15: 80,149,813	E119V	possibly damaging	Het
Tnrc6c	C	T	11: 117,723,287	A757V	possibly damaging	Het
Tradd	A	T	8: 105,259,924	I72N	probably damaging	Het
Trbv12-1	C	T	6: 41,113,847	T51M	probably benign	Het
Tsga10	T	C	1: 37,763,311	K605E	probably damaging	Het
Vwc2l	A	G	1: 70,728,918	D47G	probably damaging	Het
Zfp647	T	A	15: 76,911,495	T322S	possibly damaging	Het
Zscan20	A	C	4: 128,588,121	S583A	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
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

Predicted Primers

PCR Primer
(F):5'- GTGCTTTACATCTGACCCCAG -3'
(R):5'- ATCCAGCATCTTCCAGAGGAC -3'

Sequencing Primer
(F):5'- CCCAGAACTAAATTTGTATGCCG -3'
(R):5'- CATGGAATGAGTGTAGCCTATGC -3'

Posted On

2016-08-04