Mutagenetix > Incidental Mutations

Incidental Mutation 'R8851:Ankar'

674980

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: 0.057) question?

Stock #

R8851 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72652376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1142 (Y1142C)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably damaging
Transcript: ENSMUST00000053499
AA Change: Y1142C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: Y1142C

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 damaging
Transcript: ENSMUST00000211837
AA Change: Y1141C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,332,116	I279F	probably benign	Het
Adamts7	A	G	9: 90,193,110	N965S	probably benign	Het
Adgrl3	A	G	5: 81,465,272	Y184C	probably damaging	Het
Apoa4	A	G	9: 46,242,608	K169R	probably benign	Het
AY761184	T	A	8: 21,703,539	I22F	possibly damaging	Het
Cd22	T	A	7: 30,877,659	K74N	probably benign	Het
Dgcr2	G	A	16: 17,872,643	T41I	possibly damaging	Het
Dicer1	A	G	12: 104,724,041	V245A	possibly damaging	Het
Dopey2	T	A	16: 93,762,510	S715T	probably benign	Het
Epb41l1	A	T	2: 156,522,511	H980L	probably benign	Het
Erc2	A	T	14: 28,317,259	E973V	probably null	Het
Fam124b	T	A	1: 80,213,165	Q167L	probably damaging	Het
Frmpd2	A	G	14: 33,495,686	E46G	probably damaging	Het
Gabrb2	G	A	11: 42,421,359	V4I	probably benign	Het
Gbf1	T	A	19: 46,268,483	N841K	probably damaging	Het
Gnpat	A	G	8: 124,874,265	H161R	probably damaging	Het
Gpd2	A	T	2: 57,307,050	M206L	possibly damaging	Het
Grid2ip	T	C	5: 143,362,597	F148L	possibly damaging	Het
Hemk1	A	G	9: 107,336,213	V128A	probably benign	Het
Ism1	G	T	2: 139,749,545	S273I	probably damaging	Het
Kcnab3	G	T	11: 69,328,164		probably null	Het
Kdm6b	A	G	11: 69,401,167	Y1430H	unknown	Het
Lama2	A	G	10: 27,366,123	V279A	possibly damaging	Het
Lmf1	G	A	17: 25,585,706	W119*	probably null	Het
Lrrc42	A	G	4: 107,239,178	V276A	probably benign	Het
Magi2	T	C	5: 20,065,620	F163L	probably damaging	Het
Map2k2	A	G	10: 81,119,263	K196R	probably damaging	Het
Mfsd11	C	A	11: 116,861,653	D209E	probably benign	Het
Muc1	C	A	3: 89,231,118	F422L	probably benign	Het
Muc13	A	G	16: 33,810,903	H391R	probably benign	Het
Mxi1	G	A	19: 53,371,695	G283S	probably damaging	Het
Nfatc2ip	T	C	7: 126,387,445	Q346R	probably damaging	Het
Olfr971	A	G	9: 39,840,304	Y290C	probably damaging	Het
Otol1	T	A	3: 70,027,966	D430E	probably damaging	Het
Pcdh1	T	C	18: 38,192,102	E929G	probably damaging	Het
Plekhf1	C	T	7: 38,222,042	R34H	probably damaging	Het
Plekhm2	A	T	4: 141,631,328	V622E	probably benign	Het
Pomt2	G	A	12: 87,138,064	T196I	probably damaging	Het
Ppp1r12c	C	T	7: 4,484,704	G436D	probably damaging	Het
Prss50	A	G	9: 110,858,013		probably benign	Het
Slc29a1	A	G	17: 45,589,476	I176T	probably damaging	Het
Slc5a9	A	T	4: 111,898,593	V36E	probably damaging	Het
Slc7a1	A	C	5: 148,348,283	S133R	probably damaging	Het
Sox17	A	G	1: 4,491,850	Y376H	probably benign	Het
Spata4	T	C	8: 54,609,900	I280T	probably benign	Het
Svop	T	A	5: 114,054,496	I187F	probably damaging	Het
Tas2r103	T	A	6: 133,036,933	I57F		Het
Tead3	A	G	17: 28,332,730	V463A	probably damaging	Het
Tenm4	G	C	7: 96,852,503	G1305R	probably damaging	Het
Tmem55a	T	C	4: 14,912,491	M200T	possibly damaging	Het
Top2a	A	T	11: 99,009,851	F594L	probably damaging	Het
Trim23	A	G	13: 104,198,065	T419A	possibly damaging	Het
Ttn	T	C	2: 76,798,893	E12621G	probably damaging	Het
Ttyh2	A	G	11: 114,702,264	I254V	probably benign	Het
Vmn2r58	T	C	7: 41,837,795	M559V	probably benign	Het
Wwp1	A	T	4: 19,643,437	H358Q	probably null	Het
Zcwpw1	A	C	5: 137,822,364	D597A	probably damaging	Het
Zfp318	A	T	17: 46,399,835	Y828F	probably damaging	Het
Zfp608	T	A	18: 54,899,122	N582I	possibly 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
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'- TGCCTGTCTTCCTTGGAAAATTTG -3'
(R):5'- CCTGCAGAAGCTGTGTTAGTC -3'

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

Posted On

2021-07-15