Mutagenetix > Incidental Mutation

Incidental Mutation 'R4632:Ankar'

349241

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

041897-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72647184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1286 (T1286S)

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: T1286S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: T1286S

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: T1285S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212057

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: T1068S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
Abcg1	T	C	17: 31,064,473	V44A	probably benign	Het
Abr	C	T	11: 76,509,019	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,265,382		probably null	Het
Agbl1	A	G	7: 76,413,685	T47A	probably benign	Het
Akap13	G	T	7: 75,666,553	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd13c	A	G	3: 157,962,302	H166R	probably damaging	Het
Arl16	A	G	11: 120,465,784	S130P	probably damaging	Het
Atp10a	A	T	7: 58,807,438	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,348,719	R138W	probably damaging	Het
Auts2	G	A	5: 131,472,275	T309M	probably damaging	Het
C6	A	T	15: 4,759,868	K265I	probably benign	Het
Casz1	A	G	4: 148,951,855	T1525A	possibly damaging	Het
Chpf2	A	G	5: 24,591,831	T592A	probably benign	Het
Cilp	A	T	9: 65,279,880	T1086S	probably benign	Het
Cmip	A	G	8: 117,447,411	Y410C	possibly damaging	Het
Csmd3	A	G	15: 48,011,209	C560R	probably damaging	Het
Dchs1	T	A	7: 105,754,355	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,427,951	F3585L	probably damaging	Het
Dspp	A	G	5: 104,177,406	D545G	unknown	Het
Dusp7	T	A	9: 106,370,766	S198T	possibly damaging	Het
Ell2	A	T	13: 75,769,574	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,755,865	Y572*	probably null	Het
Galntl6	T	A	8: 58,427,823	I99F	probably damaging	Het
Gm609	T	G	16: 45,417,908	H181P	probably benign	Het
Gnat3	G	A	5: 18,015,366		probably null	Het
Hykk	T	C	9: 54,946,516	I374T	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,523,148	I722V	possibly damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Krt13	A	G	11: 100,121,224	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,809,528	S102A	unknown	Het
Lrp2	A	G	2: 69,489,129		probably null	Het
Lrriq1	C	T	10: 103,221,427	V171I	probably damaging	Het
Map3k4	C	G	17: 12,232,504	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,146,376	V105M	probably damaging	Het
Mlph	G	A	1: 90,939,386	A377T	probably damaging	Het
Myo9a	G	A	9: 59,869,664	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,474,602	Y78*	probably null	Het
Nos2	T	C	11: 78,957,591	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,733,481	K699R	probably benign	Het
Olfm5	T	C	7: 104,160,893	D87G	probably benign	Het
Olfr15	C	T	16: 3,839,087	T38M	probably damaging	Het
Oog3	A	G	4: 144,158,128	F413L	probably benign	Het
Pik3r4	A	G	9: 105,654,899	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,484,400	T224A	probably benign	Het
Pknox2	A	G	9: 36,894,413	S367P	probably benign	Het
Ppfia2	A	G	10: 106,836,044		probably null	Het
Ppm1e	G	A	11: 87,231,530	P534S	probably damaging	Het
Prepl	T	C	17: 85,083,231	T100A	probably benign	Het
Ptpn13	A	G	5: 103,569,860	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Samd12	T	A	15: 53,719,671	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,896,760	V211E	probably benign	Het
Setx	C	T	2: 29,148,615	T1704I	probably benign	Het
Sltm	T	C	9: 70,579,369	S439P	possibly damaging	Het
Sort1	G	T	3: 108,346,678	Q553H	probably damaging	Het
Svs2	G	T	2: 164,237,747	T80N	probably benign	Het
Tanc1	C	A	2: 59,795,835	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,141,498	V188E	probably damaging	Het
Tesk2	C	T	4: 116,741,712	R6W	probably benign	Het
Tex101	G	T	7: 24,668,368	C186*	probably null	Het
Timp2	C	T	11: 118,303,772	S197N	probably benign	Het
Tmem37	A	T	1: 120,068,249	C33S	probably damaging	Het
Tmem69	T	C	4: 116,553,038	D245G	probably benign	Het
Trak1	G	A	9: 121,454,425	R419Q	probably benign	Het
Ube2j2	T	A	4: 155,955,258	I14N	probably damaging	Het
Ush2a	T	A	1: 188,395,874	N694K	possibly damaging	Het
Utp20	A	G	10: 88,778,261	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,531,954	S753F	probably damaging	Het
Vmn2r103	T	C	17: 19,793,696	I250T	probably benign	Het
Zap70	G	T	1: 36,778,458	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,314,309	W87R	probably damaging	Het
Zfp410	A	T	12: 84,325,736	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981	F501S	probably 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
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
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'- CCTTTGCTGCAGTTGAAACTC -3'
(R):5'- TATGCTACATATGACACCCTCAATC -3'

Sequencing Primer
(F):5'- GCTGCAGTTGAAACTCCTTTAG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2015-10-08