Mutagenetix > Incidental Mutations

Incidental Mutation 'R7659:Ankar'

591408

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7659 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72690135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 284 (T284A)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573] [ENSMUST00000212710]

AlphaFold

A2RT91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053499
AA Change: T284A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: T284A

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: T284A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212573
AA Change: T66A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212710
AA Change: T132A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

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

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh2	T	C	5: 121,568,960	E498G	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atp6v0a4	A	G	6: 38,071,972	I452T	probably damaging	Het
Azgp1	G	T	5: 137,987,513	A133S	probably damaging	Het
Bmp2k	T	C	5: 97,074,719	S667P	unknown	Het
C1qtnf9	T	A	14: 60,772,304	I3N	possibly damaging	Het
C530025M09Rik	T	G	2: 149,830,619	T199P	unknown	Het
Casc3	C	G	11: 98,809,873	R4G	unknown	Het
Cass4	A	G	2: 172,427,027	D343G	probably damaging	Het
Ccdc84	T	C	9: 44,413,493	E164G	probably damaging	Het
Col6a3	T	A	1: 90,781,745	T2517S	unknown	Het
Dbr1	A	G	9: 99,576,610	T78A	probably damaging	Het
Dnah9	A	G	11: 65,989,780	F2664L	probably damaging	Het
Eif2ak1	T	C	5: 143,889,462	I431T	probably damaging	Het
Got1	A	G	19: 43,504,639	V281A	probably benign	Het
Gpld1	A	C	13: 24,979,981	R555S	probably benign	Het
Gpr149	T	C	3: 62,603,835	R248G	probably benign	Het
Hps3	G	A	3: 20,022,814	R395*	probably null	Het
Inpp5b	T	C	4: 124,795,426	L833P	probably damaging	Het
Itgb4	A	T	11: 115,979,731	S129C	probably damaging	Het
Kif1a	T	A	1: 93,046,820		probably benign	Het
Lgr4	T	A	2: 109,996,766	V205E	probably damaging	Het
Mbd3	T	C	10: 80,395,185	N96S	probably damaging	Het
Mcam	T	A	9: 44,136,770	C136S	unknown	Het
Mki67	A	G	7: 135,697,426	S1960P	probably damaging	Het
Mogs	G	A	6: 83,116,825		probably null	Het
Muc6	T	C	7: 141,637,060	T2567A	possibly damaging	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Nae1	A	G	8: 104,516,164	V432A	probably benign	Het
Nav3	T	G	10: 109,766,990	T1233P	probably benign	Het
Nme9	G	A	9: 99,470,857	A287T	possibly damaging	Het
Nmrk1	A	G	19: 18,636,135	I8V	probably benign	Het
Noa1	T	C	5: 77,309,390	N223D	not run	Het
Nr4a3	T	C	4: 48,051,269	Y8H	probably damaging	Het
Olfr1112	T	A	2: 87,192,365	V226E	possibly damaging	Het
Olfr1181	T	C	2: 88,423,926	Y33C	probably damaging	Het
Olfr124	A	T	17: 37,805,163	Q6L	probably benign	Het
Olfr25	T	C	9: 38,329,716	V40A	possibly damaging	Het
Olfr344	T	A	2: 36,568,625	V9E	possibly damaging	Het
Olfr649	T	C	7: 104,190,187	S7G	probably benign	Het
Olfr733	T	C	14: 50,299,241	I23V	probably benign	Het
Olfr847	C	T	9: 19,375,558	A108T	probably benign	Het
Otoa	T	A	7: 121,134,044	H711Q	probably benign	Het
Otogl	T	A	10: 107,777,120	E2048D	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pcdha3	A	G	18: 36,948,166	T654A	probably benign	Het
Pigg	G	A	5: 108,338,619	V713I	probably benign	Het
Ppt1	T	A	4: 122,836,333	H26Q	probably benign	Het
Prim1	T	C	10: 128,026,589		probably null	Het
Prmt7	G	T	8: 106,237,286	A271S	probably benign	Het
Ptprd	T	C	4: 76,128,916	D124G	probably benign	Het
Rad54l2	T	C	9: 106,713,578	K450E	probably benign	Het
Rasgrp2	G	T	19: 6,401,827	V13L	probably damaging	Het
Sapcd2	A	G	2: 25,375,966		probably null	Het
Siglecf	A	G	7: 43,351,770	Y54C	probably damaging	Het
Stk31	T	A	6: 49,423,406	N388K	probably benign	Het
Timm23	A	C	14: 32,198,978	Y52*	probably null	Het
Tm9sf1	A	T	14: 55,636,335	F569I	probably damaging	Het
Tmprss9	C	A	10: 80,893,009	A592E	probably damaging	Het
Trim30d	A	T	7: 104,472,347	V397E	probably benign	Het
Tshz1	A	T	18: 84,016,075	N69K	probably damaging	Het
Upk2	A	C	9: 44,453,511	S130R	probably damaging	Het
Vmn1r80	A	G	7: 12,193,050	Y29C	probably damaging	Het
Vmn2r96	T	C	17: 18,573,487	I31T	probably benign	Het
Zfp975	T	C	7: 42,662,424	Q255R	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
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
Z1176:Ankar	UTSW	1	72689961	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGTAGCAATGAGAACATACATTCTGC -3'
(R):5'- TATGAGCCCAATAGCCCTGAAG -3'

Sequencing Primer
(F):5'- TTGCTTATCCTCTTACCTGAAAAAG -3'
(R):5'- CCCTGAAGAAAAGGCTGTGTTTATG -3'

Posted On

2019-11-12