Mutagenetix > Incidental Mutations

Incidental Mutation 'R8008:Ankar'

616719

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: 0.062) question?

Stock #

R8008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72666484 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 789 (V789A)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053499
AA Change: V789A

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: V789A

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: V788A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212573
AA Change: V571A

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	T	A	17: 47,436,736	E28V	probably damaging	Het
2210408I21Rik	A	T	13: 77,281,115	I774F	probably benign	Het
Alpi	A	G	1: 87,098,662	S536P	unknown	Het
Atp5b	C	A	10: 128,083,408	Q28K	unknown	Het
Brpf1	T	C	6: 113,319,089	V781A	probably benign	Het
Cd177	G	A	7: 24,752,349	S414L	not run	Het
Clca3b	T	A	3: 144,844,609	T192S	probably benign	Het
Coro2a	A	T	4: 46,551,349	S119T	probably damaging	Het
Cpped1	T	C	16: 11,828,396	N164S	probably damaging	Het
Crybg2	T	A	4: 134,091,104	N1390K	probably damaging	Het
Epn2	C	T	11: 61,546,666	A27T	probably damaging	Het
Esp34	T	C	17: 38,559,599	F128S	possibly damaging	Het
Evpl	T	A	11: 116,230,472	N410Y	probably null	Het
Fam71d	T	A	12: 78,715,043	D160E	probably benign	Het
Flnb	A	G	14: 7,892,155	Y608C	probably damaging	Het
Fpr3	T	C	17: 17,971,453	S329P	probably benign	Het
Frem2	T	A	3: 53,652,910	N1392I	probably damaging	Het
Gm35339	G	A	15: 76,360,632	E1125K		Het
Gpi1	G	T	7: 34,218,301	N249K	probably damaging	Het
Gpr87	T	C	3: 59,180,045	N13S	probably benign	Het
Gys2	T	C	6: 142,454,517	T323A	probably damaging	Het
Iqgap3	T	C	3: 88,109,463	I1084T	probably damaging	Het
Lrfn4	C	G	19: 4,613,537	G323A	probably benign	Het
Lrrc4c	A	T	2: 97,630,249	S407C	possibly damaging	Het
Map3k20	A	T	2: 72,438,269	Q540L	probably benign	Het
Myom1	T	C	17: 71,100,062	V1158A	probably benign	Het
Ncor2	T	C	5: 125,067,919	D378G	unknown	Het
Nhsl1	T	A	10: 18,408,438	D42E	probably damaging	Het
Nr0b2	C	A	4: 133,556,028	A192E	probably benign	Het
Nt5c1b	A	G	12: 10,375,000	D182G	possibly damaging	Het
Olfr104-ps	T	C	17: 37,362,374	S86P	probably damaging	Het
Olfr1220	A	T	2: 89,097,715	C71S	probably benign	Het
Olfr1475	T	C	19: 13,479,806	T131A	probably benign	Het
Olfr178	T	C	16: 58,889,888	T111A	probably benign	Het
Olfr874	A	T	9: 37,746,793	I220F	probably damaging	Het
Pepd	A	G	7: 35,021,701	N250S	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Pmp22	C	T	11: 63,158,407	R159C	probably damaging	Het
Pou3f1	C	T	4: 124,658,971	A422V	unknown	Het
Rab11fip3	A	G	17: 26,067,982	L399P	probably damaging	Het
Rragc	A	G	4: 123,935,547	D352G	probably damaging	Het
Ryr2	A	G	13: 11,657,094	V3420A	probably benign	Het
Sez6	T	A	11: 77,973,256	Y521*	probably null	Het
Smc4	T	C	3: 69,007,312	V86A	probably damaging	Het
Stap2	T	A	17: 55,997,790	M331L	probably benign	Het
Syt8	G	A	7: 142,438,522	R89H	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Trim21	G	T	7: 102,559,976	T280K	probably benign	Het
Trim36	C	A	18: 46,172,489	V476F	probably benign	Het
Troap	G	T	15: 99,075,630	R56L	probably benign	Het
Ttn	A	T	2: 76,836,786	I11492K	unknown	Het
Tuft1	T	C	3: 94,614,133	T390A	probably damaging	Het
Ucp1	T	C	8: 83,294,011	I150T	probably benign	Het
Usp17lb	A	T	7: 104,841,274	C149S	possibly damaging	Het
Vmn1r159	A	T	7: 22,843,240	N122K	possibly damaging	Het
Vmn1r237	T	C	17: 21,314,194	C60R	probably damaging	Het
Wdr12	A	T	1: 60,089,335	Y85*	probably null	Het
Wdr3	T	C	3: 100,154,936	D221G	probably benign	Het
Zan	T	C	5: 137,405,362	E3974G	unknown	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
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
Z1176:Ankar	UTSW	1	72689961	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCTGGCTGAAATGCTTTCTC -3'
(R):5'- TTGCCATACCATGAATGCTACTTC -3'

Sequencing Primer
(F):5'- AGTTTCTGTCAGTGGAAAAATGG -3'
(R):5'- CCATACCATGAATGCTACTTCAATAC -3'

Posted On

2020-01-23