Mutagenetix > Incidental Mutation

Incidental Mutation 'R6003:Ankar'

478446

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

043252-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6003 (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 A at 72698887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 45 (E45D)

Ref Sequence

ENSEMBL: ENSMUSP00000148801 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably damaging
Transcript: ENSMUST00000053499
AA Change: E45D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: E45D

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: E45D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212573

Predicted Effect

probably benign
Transcript: ENSMUST00000212710

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,228,111	E157G	probably benign	Het
Abcb11	T	C	2: 69,243,467	K1238R	probably benign	Het
Antxrl	G	T	14: 34,075,635	K522N	possibly damaging	Het
Ap1m1	A	G	8: 72,249,167	Y93C	probably damaging	Het
As3mt	C	T	19: 46,708,128	T35M	possibly damaging	Het
Aspg	T	C	12: 112,113,042	S85P	probably damaging	Het
BC030499	T	G	11: 78,293,020		probably null	Het
Cachd1	T	C	4: 100,952,019	S234P	possibly damaging	Het
Ccdc3	T	C	2: 5,141,407		probably null	Het
Cnpy1	T	C	5: 28,245,761	T16A	probably benign	Het
Cope	T	C	8: 70,304,635	L43P	probably benign	Het
E2f8	T	C	7: 48,870,777	M599V	probably benign	Het
Eif3a	A	T	19: 60,766,881	D954E	unknown	Het
Gfpt1	T	A	6: 87,088,248		probably null	Het
Ggps1	T	G	13: 14,054,002	S145R	probably benign	Het
Gon4l	A	G	3: 88,896,093	D1337G	probably damaging	Het
Gtf2a1l	G	T	17: 88,694,103	G82V	probably damaging	Het
Gucy1b1	C	A	3: 82,058,277	L87F	probably damaging	Het
Hoxc9	T	C	15: 102,981,879	V76A	probably benign	Het
Ints2	T	C	11: 86,238,468	E460G	probably damaging	Het
Kdm4b	C	T	17: 56,396,916	R756W	probably damaging	Het
Lax1	T	A	1: 133,684,096	I34F	probably benign	Het
Marveld3	A	T	8: 109,954,328	C312S	probably damaging	Het
Ncoa2	T	C	1: 13,167,030	D824G	possibly damaging	Het
Nrxn2	C	A	19: 6,498,328	A17D	possibly damaging	Het
Nup133	A	T	8: 123,938,292	I220N	probably damaging	Het
Nup205	T	C	6: 35,212,816	V984A	probably benign	Het
Nup54	A	T	5: 92,422,994	D318E	probably damaging	Het
Obp2a	A	T	2: 25,701,139	K94N	probably damaging	Het
Olfr1469	T	C	19: 13,411,039	S157P	probably benign	Het
Olfr318	A	T	11: 58,720,370	I226N	probably benign	Het
Pappa2	T	C	1: 158,936,250	I564V	probably benign	Het
Parpbp	A	G	10: 88,133,158	V142A	possibly damaging	Het
Rdh16f2	A	T	10: 127,876,332	R219S	probably benign	Het
Rfx6	C	T	10: 51,708,587	R228C	probably damaging	Het
Rpap2	A	G	5: 107,601,901		probably null	Het
Slc15a2	T	C	16: 36,754,548	I531V	probably benign	Het
Srebf1	T	C	11: 60,207,104	E58G	possibly damaging	Het
Tmem214	C	A	5: 30,870,724	T96K	possibly damaging	Het
Usp19	T	C	9: 108,496,380	Y691H	probably damaging	Het
Vmn1r86	C	T	7: 13,102,198	W200*	probably null	Het
Vmn2r8	A	T	5: 108,797,382	S786R	probably damaging	Het
Vps52	T	A	17: 33,956,094	M1K	probably null	Het
Zzef1	T	A	11: 72,824,065		probably null	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
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
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'- CTTAAGATCTGATGGACTTCCCTGTAG -3'
(R):5'- AAGCCAACTTCCTTGCCATG -3'

Sequencing Primer
(F):5'- ACTTCCCTGTAGTCTAAGAGGGC -3'
(R):5'- CCTTGCCATGACAAATATTACTGC -3'

Posted On

2017-06-26