Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.062) 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
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'- GGTAGCAATGAGAACATACATTCTGC -3'
(R):5'- TATGAGCCCAATAGCCCTGAAG -3'

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

Posted On

2019-11-12