Mutagenetix > Incidental Mutation

Incidental Mutation 'R9577:Ankar'

722331

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R9577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72681908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 464 (V464L)

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: V464L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V464L

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: V464L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: V246L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	G	T	18: 24,475,606	A128S	probably benign	Het
4930539E08Rik	A	T	17: 28,909,408	I177K	probably benign	Het
AA792892	A	T	5: 94,383,946	R230*	probably null	Het
Abca14	T	C	7: 120,211,545	Y116H	probably benign	Het
Aipl1	C	T	11: 72,037,427	G11D	probably damaging	Het
Arap2	A	T	5: 62,611,717	I1526N	probably damaging	Het
Atad5	T	A	11: 80,114,170	N1144K	probably damaging	Het
B3gntl1	T	C	11: 121,624,214	T243A	probably benign	Het
Baz2b	T	C	2: 59,978,687	T73A	probably benign	Het
Brms1l	A	G	12: 55,860,091	S148G	probably damaging	Het
Btnl1	A	G	17: 34,384,361	D332G	probably benign	Het
Card9	T	A	2: 26,352,332	T531S	probably damaging	Het
Ccdc71	C	T	9: 108,463,273	A95V	possibly damaging	Het
Cdh23	A	G	10: 60,311,116	V2787A	probably damaging	Het
Chd7	A	G	4: 8,752,964	E487G	unknown	Het
Col22a1	T	C	15: 71,965,746	K505R	probably damaging	Het
Dennd1b	T	C	1: 139,090,458	V180A		Het
Dmxl2	A	G	9: 54,416,380	V1066A	unknown	Het
Dnah9	C	T	11: 65,976,521	V2744M	probably benign	Het
Fam83e	G	T	7: 45,727,015	R384L	possibly damaging	Het
Fbxo42	T	A	4: 141,180,432	Y134*	probably null	Het
Fmn1	C	T	2: 113,364,125	P57S	unknown	Het
Gm6309	T	C	5: 146,168,890	R155G	possibly damaging	Het
Gnpda1	T	C	18: 38,330,552	T235A	probably benign	Het
Gsdmc2	T	A	15: 63,825,057	I422F	probably damaging	Het
Itfg1	A	G	8: 85,776,169	V256A	probably benign	Het
Kcnk2	CAAA	CAA	1: 189,256,694		probably null	Het
Kif14	T	C	1: 136,471,400	V433A	probably benign	Het
Kif3a	T	C	11: 53,584,404	F363S	probably damaging	Het
Lman2l	T	C	1: 36,428,409	D186G	probably damaging	Het
Lmntd2	T	C	7: 141,211,077	T448A	probably benign	Het
Magi2	C	T	5: 20,609,284	A898V	probably damaging	Het
Mri1	A	G	8: 84,256,300	V164A	probably damaging	Het
Myb	C	T	10: 21,154,713	D62N	probably benign	Het
Nxpe2	G	A	9: 48,326,332	R208*	probably null	Het
Olfr3	C	A	2: 36,812,555	C179F	probably damaging	Het
Olfr945	A	G	9: 39,258,441	V77A	possibly damaging	Het
Pcdha12	C	T	18: 37,022,073	A615V	probably benign	Het
Pou4f3	C	G	18: 42,395,498	P169A	probably benign	Het
Prss36	T	C	7: 127,934,501	I556V	probably benign	Het
Psg23	A	T	7: 18,612,142	D209E	probably benign	Het
Ptpn13	C	A	5: 103,528,809	D679E	probably damaging	Het
Ptprz1	G	T	6: 23,002,203	D1431Y	probably damaging	Het
Sdccag8	T	A	1: 176,831,063	L143M	probably damaging	Het
Shroom1	A	G	11: 53,466,785	Q721R	probably benign	Het
Spdye4b	A	G	5: 143,196,300	M118V	probably damaging	Het
Tbc1d1	T	A	5: 64,316,356	S741T	possibly damaging	Het
Tbx18	A	G	9: 87,729,459		probably null	Het
Tm9sf4	T	C	2: 153,195,374	F385S	probably benign	Het
Trpm4	A	T	7: 45,305,008	L1133*	probably null	Het
Trpm5	A	G	7: 143,079,394		probably null	Het
Ube4b	A	G	4: 149,383,774	S182P	possibly damaging	Het
Ugt2b36	T	C	5: 87,080,925	T420A	probably benign	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Zc3h6	T	A	2: 129,016,182	I711K		Het
Zer1	T	C	2: 30,101,038	Y726C	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
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
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'- CACCAATGACCAATGACTCTTCTAG -3'
(R):5'- TTATGGAATAAGCAGGGTTTGACAG -3'

Sequencing Primer
(F):5'- GACCAATGACTCTTCTAGTAAACTCC -3'
(R):5'- GCTACTATGTGATCCATTTTG -3'

Posted On

2022-08-09