Mutagenetix > Incidental Mutation

Incidental Mutation 'R0488:Ankar'

42388

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

038687-MU

Accession Numbers

Essential gene?

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

Stock #

R0488 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72658732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 996 (Q996H)

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: Q996H

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

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: Q996H

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: Q995H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212573
AA Change: Q778H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.2744

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	G	11: 46,138,930	L734R	probably damaging	Het
Adgrf1	T	C	17: 43,310,411	I513T	probably damaging	Het
Adgrl2	A	G	3: 148,846,905	V654A	probably damaging	Het
Agl	A	T	3: 116,754,962	Y1249*	probably null	Het
Aqp12	T	C	1: 93,008,656	Y235H	probably damaging	Het
Arsb	T	C	13: 93,940,505	V460A	probably benign	Het
Baiap3	A	G	17: 25,248,470		probably null	Het
Cd44	T	C	2: 102,834,219		probably benign	Het
Clec4b1	T	A	6: 123,071,482	I192N	probably damaging	Het
Cps1	A	C	1: 67,148,808		probably benign	Het
Dab2	T	C	15: 6,424,654	L215S	probably damaging	Het
E2f4	G	A	8: 105,298,539	V84I	probably damaging	Het
Edem2	T	C	2: 155,716,123	T197A	probably damaging	Het
Eno2	T	A	6: 124,763,874	M121L	probably benign	Het
Ephb1	A	G	9: 101,964,008	V757A	probably damaging	Het
Etv5	T	A	16: 22,412,945	I106F	probably damaging	Het
Foxj3	T	A	4: 119,619,990	Y298*	probably null	Het
Gm12185	A	G	11: 48,907,839	L609S	probably damaging	Het
Gm5884	T	C	6: 128,646,068		noncoding transcript	Het
Havcr1	A	G	11: 46,752,571	Y106C	probably damaging	Het
Jmjd1c	A	G	10: 67,240,727	N2110S	probably damaging	Het
Kif2b	T	C	11: 91,576,972	K162E	probably benign	Het
Micu2	T	C	14: 57,932,242	Y217C	probably benign	Het
Mink1	G	T	11: 70,597,204	G32C	probably damaging	Het
Mnat1	T	A	12: 73,170,639	N96K	probably damaging	Het
Mpp2	G	T	11: 102,061,601	R349S	possibly damaging	Het
Mrpl13	T	A	15: 55,539,148	I59F	probably benign	Het
Mybl2	T	C	2: 163,072,614		probably benign	Het
Otogl	T	C	10: 107,803,605	E1382G	probably benign	Het
Pclo	A	G	5: 14,669,299	E1150G	unknown	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Pla2g4a	G	A	1: 149,871,445	T322M	probably damaging	Het
Pramef6	A	T	4: 143,895,403	Y461N	probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Ptprg	A	T	14: 12,220,653	D455V	probably damaging	Het
Ptprt	T	C	2: 161,553,825	T1162A	probably damaging	Het
Rad51ap1	T	C	6: 126,934,760	N55D	possibly damaging	Het
Rc3h2	T	C	2: 37,389,588	E543G	probably damaging	Het
Rimklb	G	A	6: 122,460,975	T103I	probably benign	Het
Rsg1	A	G	4: 141,214,401	D14G	probably benign	Het
Samd4b	T	C	7: 28,414,237	Y101C	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tubgcp5	T	A	7: 55,829,338	S979T	probably damaging	Het
Vmn2r93	G	A	17: 18,326,049	E728K	probably damaging	Het
Wdr17	T	C	8: 54,693,052		probably benign	Het
Wdr90	T	C	17: 25,848,617	Y1457C	probably damaging	Het
Wsb1	T	C	11: 79,244,500	D225G	probably damaging	Het
Xirp2	T	C	2: 67,514,821	S2469P	possibly damaging	Het
Zeb1	T	A	18: 5,772,455	C915S	probably damaging	Het
Znfx1	C	A	2: 167,042,563	R923L	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCAGAGCTATGACTGCTTCACCTCC -3'
(R):5'- CTGGCAAACTGCAACCCTTTAATCC -3'

Sequencing Primer
(F):5'- TTCACCTCCTGGTAACAAACAGTAAG -3'
(R):5'- GGACCTCCTAAAACTTCTACAGG -3'

Posted On

2013-05-23