Mutagenetix > Incidental Mutation

Incidental Mutation 'R8970:Ankar'

682982

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

068804-MU

Accession Numbers

Essential gene?

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

Stock #

R8970 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 72652337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably null
Transcript: ENSMUST00000053499

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212573

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,178,420	E198G	probably benign	Het
2310007B03Rik	G	C	1: 93,159,811	P107A	probably benign	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abca2	T	C	2: 25,445,716	V2113A	probably benign	Het
Adam10	A	G	9: 70,748,176	N309D	probably benign	Het
Adcy1	T	A	11: 7,149,983	W698R	probably benign	Het
Adnp	T	C	2: 168,189,370	N7S	possibly damaging	Het
Ankrd34b	T	A	13: 92,439,082	I274K	probably benign	Het
Apela	A	T	8: 65,036,949	L6H	unknown	Het
Ash1l	T	C	3: 89,069,000	I2629T	probably benign	Het
Auts2	C	T	5: 132,258,952	R64K	possibly damaging	Het
Bms1	A	G	6: 118,392,331	V1003A	possibly damaging	Het
C2cd3	T	C	7: 100,419,764	V555A		Het
C2cd6	T	A	1: 59,069,736	H252L	possibly damaging	Het
Capn3	G	T	2: 120,464,085	K71N	possibly damaging	Het
Clec2l	C	A	6: 38,680,187	T195K	possibly damaging	Het
Col27a1	T	C	4: 63,215,868	S15P	unknown	Het
Coro2b	T	C	9: 62,426,527		probably benign	Het
Crocc2	A	T	1: 93,188,965	T233S	probably benign	Het
Ddb1	A	G	19: 10,608,444	Q174R	probably benign	Het
Denr	C	T	5: 123,917,216	P48L	probably damaging	Het
Dusp26	A	G	8: 31,094,204	Y113C	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Evi5l	A	G	8: 4,186,154		probably benign	Het
Fam60a	A	T	6: 148,933,126	F2I	probably damaging	Het
Fgf2	G	T	3: 37,404,618	V96F	probably benign	Het
Gm3139	T	C	5: 94,537,786	V435A	probably benign	Het
Gpr139	A	G	7: 119,144,811	Y184H	probably damaging	Het
Gtf3c1	A	C	7: 125,673,055		probably benign	Het
Gucy1b2	A	G	14: 62,419,215	V231A	possibly damaging	Het
Gucy2g	T	C	19: 55,203,046	E991G	possibly damaging	Het
Gvin1	A	T	7: 106,163,440	H607Q	probably damaging	Het
Hal	T	C	10: 93,489,174	V15A	probably damaging	Het
Hes3	A	G	4: 152,291,579		probably null	Het
Il11	A	G	7: 4,776,182	L72P	probably damaging	Het
Iqsec3	T	A	6: 121,389,569	I785F	probably damaging	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Lrpprc	T	A	17: 84,767,055	T475S	probably damaging	Het
Lrrc63	T	A	14: 75,125,191	T300S	unknown	Het
Lsamp	A	T	16: 42,174,165	I331F	possibly damaging	Het
Ltn1	A	T	16: 87,416,038	I545K	probably benign	Het
Med13l	G	A	5: 118,745,099	R1341H	probably damaging	Het
Msh4	T	A	3: 153,869,732	K669*	probably null	Het
Myo10	T	A	15: 25,803,381	L1558H	possibly damaging	Het
Ncbp1	G	A	4: 46,170,023	V699M	probably damaging	Het
Olfr1451	T	A	19: 12,998,989	M1K	probably null	Het
Olfr1468-ps1	T	G	19: 13,375,753	S264A	unknown	Het
Olfr361	T	A	2: 37,085,466	Y94F	probably benign	Het
Olfr504	A	G	7: 108,565,790	S2P	probably benign	Het
Parpbp	G	A	10: 88,126,324	R165W	probably damaging	Het
Pcdhgb7	T	A	18: 37,752,578	M267K	probably benign	Het
Pitx3	T	A	19: 46,137,101	H68L	possibly damaging	Het
Ppfia4	A	G	1: 134,324,551	L395P	probably damaging	Het
Ptprh	T	C	7: 4,580,945	D216G	possibly damaging	Het
Ptprs	A	G	17: 56,423,353	S1174P	possibly damaging	Het
Shf	A	G	2: 122,357,173	S51P	probably benign	Het
Slc19a3	A	T	1: 83,023,101	L65Q	probably damaging	Het
Srgap2	G	A	1: 131,298,366	L390F		Het
Srpk1	T	C	17: 28,599,519	T448A	probably benign	Het
Stat5a	A	G	11: 100,880,527	D612G	probably benign	Het
Supt4a	A	T	11: 87,742,819	E67V	probably benign	Het
Tango6	T	A	8: 106,689,239	C231S	probably damaging	Het
Th	A	G	7: 142,893,059	L490P	probably damaging	Het
Tpcn1	C	T	5: 120,544,453	G497S	probably damaging	Het
Trim10	A	T	17: 36,873,276	I254F	probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r124	G	T	17: 18,074,177	R842L	probably benign	Het
Vmn2r56	T	C	7: 12,694,705	R545G	probably damaging	Het
Vmn2r84	T	C	10: 130,386,375	T659A	probably damaging	Het
Vps13c	T	C	9: 67,945,521	M2361T	probably benign	Het
Zfp217	T	C	2: 170,115,077	D667G	possibly damaging	Het
Zfp952	T	G	17: 33,002,836	C96W	probably benign	Het
Zfp959	A	G	17: 55,897,836	Q291R	possibly damaging	Het
Zscan4-ps3	T	C	7: 11,610,487	V124A	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
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
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'- GCCTGTCTTCCTTGGAAAATTTG -3'
(R):5'- CAGTCCTGCAGAAGCTGTGTTAG -3'

Sequencing Primer
(F):5'- GCCATGGAGAGCATTTAG -3'
(R):5'- ACCATGCTTTAAAACCCTTTATAACC -3'

Posted On

2021-10-11