Mutagenetix > Incidental Mutation

Incidental Mutation 'R7194:Ankar'

559758

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

045335-MU

Accession Numbers

Essential gene?

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

Stock #

R7194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72659033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 954 (I954N)

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: I954N

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: I954N

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: I953N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: I736N

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,164,775	E429D	probably benign	Het
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Aadat	A	G	8: 60,526,622	I173V	probably benign	Het
Abi3bp	C	T	16: 56,562,371	R115C	probably damaging	Het
Adam18	A	G	8: 24,651,852	S234P	possibly damaging	Het
Adam20	A	G	8: 40,796,412	R520G	probably benign	Het
Angel2	C	G	1: 190,944,997	T514R	probably damaging	Het
Ankrd7	A	T	6: 18,879,343	Y262F	probably benign	Het
Ano8	C	A	8: 71,482,363	L398F	possibly damaging	Het
App	C	T	16: 85,025,431	V356I	probably benign	Het
Atp1a2	C	A	1: 172,280,627	E636*	probably null	Het
Cckbr	G	A	7: 105,435,345	E429K	possibly damaging	Het
Cfi	T	G	3: 129,855,059	S197R	probably damaging	Het
Chn2	A	G	6: 54,286,177		probably null	Het
Col3a1	C	A	1: 45,331,700	A405D	unknown	Het
Colec12	A	T	18: 9,848,248	N142I	probably benign	Het
Copa	T	C	1: 172,119,944	L1109P	probably damaging	Het
Cpeb3	T	A	19: 37,174,752	M75L	probably benign	Het
Cyp2d11	T	C	15: 82,391,768	Y204C	probably benign	Het
Defa17	A	G	8: 21,656,597	T80A	probably benign	Het
Dppa5a	C	T	9: 78,367,720		probably null	Het
Fat4	G	T	3: 38,888,884	S642I	probably damaging	Het
Fat4	T	A	3: 38,983,895	C3899S	probably damaging	Het
Fn1	A	G	1: 71,602,323	V1869A	probably damaging	Het
Gm10308	A	T	17: 91,088,961	I104L	unknown	Het
Gm15448	A	G	7: 3,824,793	W122R		Het
Gpr139	C	T	7: 119,144,673	A230T	possibly damaging	Het
Grm8	T	C	6: 27,618,487	N452S	probably benign	Het
Hmox1	T	C	8: 75,096,923	V73A	probably benign	Het
Hspa4	A	G	11: 53,265,938	F641L	probably damaging	Het
Ifi207	T	G	1: 173,729,924	H416P	possibly damaging	Het
Igkv10-96	G	T	6: 68,632,044	T89K	possibly damaging	Het
Kmt2d	A	C	15: 98,843,833	V4482G	unknown	Het
Krt28	T	A	11: 99,374,404	K146*	probably null	Het
Krt82	T	C	15: 101,542,756	N406S	probably damaging	Het
Marveld3	A	T	8: 109,959,845		probably null	Het
Mllt6	C	T	11: 97,673,568	S370L	probably benign	Het
Muc16	A	G	9: 18,674,454	L26S	unknown	Het
Mup12	T	A	4: 60,740,735	E48V	probably benign	Het
Myh1	G	A	11: 67,211,357	V825I	probably benign	Het
Nipal3	G	A	4: 135,474,421	T152I	probably benign	Het
Nrg3	A	T	14: 39,472,478	M108K	probably benign	Het
Olfr961	G	A	9: 39,647,091	V122I	probably benign	Het
Oog3	A	T	4: 144,162,599	I3N	probably damaging	Het
Pkhd1l1	T	C	15: 44,529,116	C1616R	probably damaging	Het
Ppa2	T	A	3: 133,348,192		probably null	Het
Ppfibp2	T	A	7: 107,722,980		probably null	Het
Ppp4c	T	C	7: 126,786,481	N229D	probably damaging	Het
Ptpn9	T	C	9: 57,022,286	F96L	probably damaging	Het
Pygl	A	G	12: 70,194,320	V742A	probably benign	Het
Ranbp2	A	G	10: 58,476,769	T1104A	probably benign	Het
Rasal1	G	A	5: 120,675,492	A644T	probably benign	Het
Rcor3	T	A	1: 192,125,961	T139S	possibly damaging	Het
Rfx5	T	A	3: 94,955,143	I37N	probably damaging	Het
Rnf112	C	T	11: 61,450,857	G374R	probably damaging	Het
Rrp12	T	C	19: 41,871,540	I1034V	probably benign	Het
Sacs	T	A	14: 61,210,089	Y3195N	possibly damaging	Het
Scn4a	A	G	11: 106,324,236	I1243T	probably benign	Het
Sirt7	A	T	11: 120,618,973	C362S	probably benign	Het
Slc17a6	T	A	7: 51,626,892	S130T	probably damaging	Het
Snrnp48	A	C	13: 38,209,899	Y60S	probably damaging	Het
Syne1	T	C	10: 5,110,859	E7260G	probably damaging	Het
Trbv15	C	T	6: 41,141,595	T95I	probably benign	Het
Trip12	A	T	1: 84,794,222	N68K	probably benign	Het
Ugcg	A	G	4: 59,213,210	Y132C	probably damaging	Het
Usp9y	A	T	Y: 1,304,672	C2391S	probably damaging	Het
Vmn1r103	C	A	7: 20,510,513	V8L	probably benign	Het
Vmn2r15	T	A	5: 109,292,783	N403I	probably damaging	Het
Zbtb11	T	C	16: 56,007,188	S1006P	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
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
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'- CACTCAGTGCATGTGTACTAGAC -3'
(R):5'- CACTCTTTTGAAGATGTGCTGAAG -3'

Sequencing Primer
(F):5'- GTGTACTAGACACATTACAGAT -3'
(R):5'- AGGCACTGTCCTCAGCTACAATTG -3'

Posted On

2019-06-26