Mutagenetix > Incidental Mutation

Incidental Mutation 'R0389:Anks1'

31537

Institutional Source

Beutler Lab

Gene Symbol

Anks1

Ensembl Gene

ENSMUSG00000024219

Gene Name

ankyrin repeat and SAM domain containing 1

Synonyms

Odin

MMRRC Submission

038595-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0389 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

28128280-28281749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28214926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 458 (R458G)

Ref Sequence

ENSEMBL: ENSMUSP00000110491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025058] [ENSMUST00000088027] [ENSMUST00000114842]

AlphaFold

P59672

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025058
AA Change: R458G

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
AA Change: R458G

Domain	Start	End	E-Value	Type
low complexity region	22	62	N/A	INTRINSIC
ANK	75	104	1.08e-5	SMART
ANK	108	137	7.42e-4	SMART
ANK	165	194	1.88e-5	SMART
ANK	198	227	1.93e-2	SMART
ANK	231	260	1.64e-5	SMART
ANK	263	292	7.71e-2	SMART
low complexity region	419	439	N/A	INTRINSIC
low complexity region	633	647	N/A	INTRINSIC
SAM	709	778	3.2e-16	SMART
SAM	783	851	4.33e-13	SMART
Blast:PTB	861	919	2e-22	BLAST
PTB	953	1087	3.17e-43	SMART
low complexity region	1126	1135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088027
AA Change: R437G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
AA Change: R437G

Domain	Start	End	E-Value	Type
low complexity region	22	62	N/A	INTRINSIC
ANK	75	104	1.08e-5	SMART
ANK	108	137	7.42e-4	SMART
ANK	144	173	1.88e-5	SMART
ANK	177	206	1.93e-2	SMART
ANK	210	239	1.64e-5	SMART
ANK	242	271	7.71e-2	SMART
low complexity region	398	418	N/A	INTRINSIC
low complexity region	612	626	N/A	INTRINSIC
SAM	688	757	3.2e-16	SMART
SAM	762	830	4.33e-13	SMART
Blast:PTB	840	898	2e-22	BLAST
PTB	932	1066	3.17e-43	SMART
low complexity region	1105	1114	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114842
AA Change: R458G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
AA Change: R458G

Domain	Start	End	E-Value	Type
low complexity region	22	62	N/A	INTRINSIC
ANK	75	104	1.08e-5	SMART
ANK	108	137	7.42e-4	SMART
ANK	165	194	1.88e-5	SMART
ANK	198	227	1.93e-2	SMART
ANK	231	260	1.64e-5	SMART
ANK	263	292	7.71e-2	SMART
low complexity region	419	439	N/A	INTRINSIC
low complexity region	633	647	N/A	INTRINSIC
SAM	709	778	3.2e-16	SMART
SAM	783	851	4.33e-13	SMART
Blast:PTB	861	919	2e-22	BLAST
PTB	953	1087	3.17e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156965

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	G	A	3: 121,465,053 (GRCm39)	E30K	unknown	Het
Abi3bp	A	T	16: 56,491,670 (GRCm39)	T1319S	possibly damaging	Het
Adam18	T	C	8: 25,119,653 (GRCm39)		probably null	Het
Adgre1	G	A	17: 57,713,839 (GRCm39)	D175N	possibly damaging	Het
Adgrf1	T	C	17: 43,614,679 (GRCm39)		probably null	Het
Ankhd1	A	G	18: 36,777,652 (GRCm39)	S1612G	possibly damaging	Het
Cacna1g	C	T	11: 94,350,523 (GRCm39)	V441M	probably damaging	Het
Cadps2	A	T	6: 23,321,781 (GRCm39)	V1037E	possibly damaging	Het
Casz1	T	C	4: 149,033,368 (GRCm39)	V1380A	possibly damaging	Het
Cenpq	T	C	17: 41,244,085 (GRCm39)		probably benign	Het
Chrac1	T	C	15: 72,965,376 (GRCm39)	I93T	possibly damaging	Het
Cntnap2	T	A	6: 45,986,571 (GRCm39)	S359T	probably benign	Het
Col6a6	C	A	9: 105,661,403 (GRCm39)	M235I	probably benign	Het
Crat	T	C	2: 30,293,640 (GRCm39)		probably benign	Het
Cyp1a2	T	C	9: 57,589,308 (GRCm39)	N169D	probably benign	Het
Dennd1c	T	A	17: 57,374,649 (GRCm39)	T499S	probably benign	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Dync2h1	G	T	9: 7,167,244 (GRCm39)		probably null	Het
Eif3h	C	A	15: 51,662,660 (GRCm39)	V129F	probably damaging	Het
Eno2	A	G	6: 124,739,654 (GRCm39)	F380L	probably damaging	Het
Ergic2	T	A	6: 148,084,700 (GRCm39)	I34F	probably benign	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fam185a	C	T	5: 21,664,283 (GRCm39)	T339M	probably damaging	Het
Fam20b	A	T	1: 156,509,023 (GRCm39)	D396E	probably benign	Het
Fasn	G	T	11: 120,707,008 (GRCm39)	D881E	probably damaging	Het
Fat1	C	A	8: 45,403,385 (GRCm39)	H45Q	probably benign	Het
Fbxw16	A	T	9: 109,261,550 (GRCm39)	C439S	probably benign	Het
Garin1a	T	A	6: 29,281,391 (GRCm39)	V43E	possibly damaging	Het
Gba2	A	T	4: 43,570,832 (GRCm39)	F280Y	probably damaging	Het
Gfm1	A	G	3: 67,365,251 (GRCm39)	I517V	probably benign	Het
Gng13	C	T	17: 25,937,696 (GRCm39)	Q8*	probably null	Het
Golga1	A	T	2: 38,908,453 (GRCm39)	S749T	probably damaging	Het
Gphn	A	T	12: 78,637,433 (GRCm39)	I381F	probably damaging	Het
Grm3	T	C	5: 9,554,794 (GRCm39)	N833D	probably damaging	Het
Gstt2	G	T	10: 75,668,266 (GRCm39)	T163K	probably damaging	Het
Gusb	A	T	5: 130,026,927 (GRCm39)	V388E	probably damaging	Het
Hcrtr2	A	T	9: 76,153,662 (GRCm39)	Y243*	probably null	Het
Hspg2	A	G	4: 137,242,734 (GRCm39)	T650A	possibly damaging	Het
Ints2	C	T	11: 86,139,677 (GRCm39)	V306I	probably damaging	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Itgam	C	T	7: 127,680,806 (GRCm39)	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,700,243 (GRCm39)	T161A	probably benign	Het
Klhl18	A	T	9: 110,257,749 (GRCm39)	C564S	probably benign	Het
Krt40	T	A	11: 99,432,540 (GRCm39)	R159*	probably null	Het
L3mbtl4	G	A	17: 68,762,775 (GRCm39)	V103M	probably damaging	Het
Lnx2	C	A	5: 146,955,850 (GRCm39)	V649L	possibly damaging	Het
Lpp	A	T	16: 24,426,991 (GRCm39)	Q39H	probably damaging	Het
Lrpprc	A	T	17: 85,060,540 (GRCm39)		probably null	Het
Map3k19	A	T	1: 127,750,152 (GRCm39)	N1066K	probably benign	Het
Mbtps2	G	T	X: 156,351,364 (GRCm39)	T134K	probably benign	Het
Mfng	C	T	15: 78,648,637 (GRCm39)	V147M	possibly damaging	Het
Mks1	T	C	11: 87,748,754 (GRCm39)	S273P	probably benign	Het
Myh2	T	C	11: 67,071,647 (GRCm39)	L488P	probably damaging	Het
Myo15a	A	G	11: 60,369,364 (GRCm39)	N708S	probably benign	Het
Myo6	A	T	9: 80,199,748 (GRCm39)	N1019I	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Ncoa1	T	G	12: 4,345,976 (GRCm39)	N457T	probably benign	Het
Neb	T	C	2: 52,051,489 (GRCm39)		probably null	Het
Nlrp4e	C	A	7: 23,054,628 (GRCm39)	N927K	probably damaging	Het
Npffr2	T	C	5: 89,730,613 (GRCm39)	M181T	probably benign	Het
Nxf7	A	T	X: 134,485,132 (GRCm39)	C495S	possibly damaging	Het
Oas1g	T	C	5: 121,025,592 (GRCm39)	T12A	probably benign	Het
Or11g2	T	A	14: 50,856,036 (GRCm39)	L119Q	probably damaging	Het
Or1e17	T	A	11: 73,831,879 (GRCm39)	V269E	probably benign	Het
Or2g7	C	G	17: 38,378,562 (GRCm39)	R167G	possibly damaging	Het
Or52s1b	A	T	7: 102,822,490 (GRCm39)	V118E	possibly damaging	Het
Or5p60	A	G	7: 107,724,023 (GRCm39)	V149A	probably benign	Het
Papln	C	T	12: 83,830,153 (GRCm39)	Q1008*	probably null	Het
Pcdhb10	A	C	18: 37,545,485 (GRCm39)	D187A	probably damaging	Het
Phf2	T	A	13: 48,957,965 (GRCm39)	E1016D	unknown	Het
Phf8	T	A	X: 150,335,618 (GRCm39)	D197E	probably benign	Het
Pikfyve	A	G	1: 65,235,865 (GRCm39)	H179R	probably damaging	Het
Prkcz	T	A	4: 155,353,597 (GRCm39)	D250V	probably damaging	Het
Prpf4	A	G	4: 62,340,842 (GRCm39)	Y419C	probably damaging	Het
Prr15l	C	A	11: 96,825,440 (GRCm39)	Y23*	probably null	Het
Prr5	T	A	15: 84,587,152 (GRCm39)	S301T	probably benign	Het
Psg16	T	A	7: 16,829,088 (GRCm39)	I224N	probably benign	Het
Radil	A	G	5: 142,529,226 (GRCm39)	F186L	probably damaging	Het
Reg3g	A	T	6: 78,445,544 (GRCm39)	M1K	probably null	Het
Rps6ka3	A	G	X: 158,100,963 (GRCm39)	Y76C	probably damaging	Het
Rtl1	C	T	12: 109,556,797 (GRCm39)	V1681I	possibly damaging	Het
Sfmbt1	C	T	14: 30,533,464 (GRCm39)	R614C	probably damaging	Het
Slc12a4	A	G	8: 106,678,599 (GRCm39)	S244P	probably benign	Het
Sp140l2	T	A	1: 85,247,773 (GRCm39)	N5Y	probably benign	Het
Sptbn1	T	C	11: 30,089,250 (GRCm39)	T671A	possibly damaging	Het
Supt16	A	T	14: 52,411,570 (GRCm39)	N604K	probably damaging	Het
Synj2	G	A	17: 6,080,058 (GRCm39)	V1096I	probably benign	Het
Tas2r129	G	T	6: 132,928,159 (GRCm39)	C32F	probably benign	Het
Tbc1d25	T	C	X: 8,039,108 (GRCm39)	Y140C	probably damaging	Het
Tdrd7	A	G	4: 46,016,987 (GRCm39)	D709G	probably benign	Het
Tfap2d	C	T	1: 19,174,591 (GRCm39)	R15C	possibly damaging	Het
Tgfbi	C	A	13: 56,777,515 (GRCm39)	T333N	probably benign	Het
Tnk1	T	C	11: 69,746,508 (GRCm39)	Y235C	probably damaging	Het
Ttc17	A	G	2: 94,208,439 (GRCm39)	F144S	probably benign	Het
Twnk	G	T	19: 44,996,578 (GRCm39)	G337V	possibly damaging	Het
Unc13a	A	G	8: 72,110,676 (GRCm39)	F464L	probably benign	Het
Usp17le	C	A	7: 104,417,667 (GRCm39)	A492S	probably damaging	Het
Vmn1r213	A	T	13: 23,195,932 (GRCm39)	M172L	probably benign	Het
Vmn1r71	G	A	7: 10,482,238 (GRCm39)	T84I	probably benign	Het
Vmn2r109	C	T	17: 20,761,336 (GRCm39)	V674M	probably damaging	Het
Vmn2r19	A	T	6: 123,312,945 (GRCm39)	I672F	possibly damaging	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Xdh	T	A	17: 74,205,357 (GRCm39)	H1036L	probably damaging	Het
Zfp930	T	A	8: 69,680,948 (GRCm39)	Y214*	probably null	Het

Other mutations in Anks1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Anks1	APN	17	28,277,390 (GRCm39)	missense	possibly damaging	0.94
IGL00816:Anks1	APN	17	28,278,367 (GRCm39)	critical splice donor site	probably null
IGL00940:Anks1	APN	17	28,276,328 (GRCm39)	missense	probably damaging	1.00
IGL01306:Anks1	APN	17	28,205,227 (GRCm39)	missense	probably damaging	1.00
IGL01485:Anks1	APN	17	28,270,558 (GRCm39)	missense	probably damaging	1.00
IGL02059:Anks1	APN	17	28,227,020 (GRCm39)	missense	possibly damaging	0.64
IGL02220:Anks1	APN	17	28,273,681 (GRCm39)	missense	probably damaging	0.98
IGL02955:Anks1	APN	17	28,273,291 (GRCm39)	missense	probably damaging	1.00
IGL03071:Anks1	APN	17	28,227,173 (GRCm39)	missense	probably benign	0.37
ANU23:Anks1	UTSW	17	28,205,227 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Anks1	UTSW	17	28,278,554 (GRCm39)	intron	probably benign
R1221:Anks1	UTSW	17	28,269,616 (GRCm39)	missense	possibly damaging	0.62
R1523:Anks1	UTSW	17	28,270,629 (GRCm39)	splice site	probably null
R1639:Anks1	UTSW	17	28,277,280 (GRCm39)	missense	probably damaging	1.00
R1816:Anks1	UTSW	17	28,205,547 (GRCm39)	missense	probably damaging	1.00
R1981:Anks1	UTSW	17	28,204,095 (GRCm39)	missense	probably damaging	1.00
R1982:Anks1	UTSW	17	28,204,095 (GRCm39)	missense	probably damaging	1.00
R2041:Anks1	UTSW	17	28,227,388 (GRCm39)	missense	probably damaging	1.00
R2099:Anks1	UTSW	17	28,197,465 (GRCm39)	critical splice donor site	probably null
R2897:Anks1	UTSW	17	28,204,337 (GRCm39)	critical splice donor site	probably null
R2965:Anks1	UTSW	17	28,272,879 (GRCm39)	missense	probably benign
R3624:Anks1	UTSW	17	28,205,262 (GRCm39)	missense	probably damaging	0.99
R4671:Anks1	UTSW	17	28,270,552 (GRCm39)	missense	probably benign	0.45
R4786:Anks1	UTSW	17	28,271,704 (GRCm39)	missense	possibly damaging	0.93
R4871:Anks1	UTSW	17	28,210,351 (GRCm39)	missense	probably benign	0.00
R4936:Anks1	UTSW	17	28,207,779 (GRCm39)	missense	probably damaging	1.00
R5175:Anks1	UTSW	17	28,261,562 (GRCm39)	missense	probably damaging	1.00
R5908:Anks1	UTSW	17	28,214,993 (GRCm39)	missense	probably damaging	1.00
R5975:Anks1	UTSW	17	28,210,421 (GRCm39)	splice site	probably null
R6226:Anks1	UTSW	17	28,276,304 (GRCm39)	missense	probably benign	0.01
R6306:Anks1	UTSW	17	28,269,613 (GRCm39)	missense	probably damaging	1.00
R6332:Anks1	UTSW	17	28,271,709 (GRCm39)	missense	probably benign
R6891:Anks1	UTSW	17	28,276,398 (GRCm39)	missense	probably damaging	1.00
R6995:Anks1	UTSW	17	28,273,273 (GRCm39)	missense	probably damaging	1.00
R7465:Anks1	UTSW	17	28,273,297 (GRCm39)	missense	possibly damaging	0.48
R7502:Anks1	UTSW	17	28,227,114 (GRCm39)	missense	possibly damaging	0.48
R7749:Anks1	UTSW	17	28,257,115 (GRCm39)	missense	probably damaging	0.96
R7943:Anks1	UTSW	17	28,204,178 (GRCm39)	missense	probably damaging	1.00
R8005:Anks1	UTSW	17	28,278,341 (GRCm39)	missense	probably damaging	1.00
R8190:Anks1	UTSW	17	28,205,778 (GRCm39)	missense	probably benign	0.01
R8301:Anks1	UTSW	17	28,278,554 (GRCm39)	intron	probably benign
R8476:Anks1	UTSW	17	28,273,292 (GRCm39)	missense	probably damaging	1.00
R8754:Anks1	UTSW	17	28,214,984 (GRCm39)	missense	possibly damaging	0.65
R9258:Anks1	UTSW	17	28,277,400 (GRCm39)	missense	probably damaging	1.00
R9381:Anks1	UTSW	17	28,272,979 (GRCm39)	missense	probably damaging	1.00
R9386:Anks1	UTSW	17	28,272,880 (GRCm39)	missense	probably benign	0.03
R9547:Anks1	UTSW	17	28,270,748 (GRCm39)	missense	probably damaging	1.00
R9710:Anks1	UTSW	17	28,128,571 (GRCm39)	missense	possibly damaging	0.82
R9801:Anks1	UTSW	17	28,227,033 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGAGAAGGCTCCTAAGGACCACAC -3'
(R):5'- AGGGCTGCATCTTCATCCATTCAAG -3'

Sequencing Primer
(F):5'- GGACCACACACCCACCAG -3'
(R):5'- TTCATCCATTCAAGGGCATGGAG -3'

Posted On

2013-04-24