Mutagenetix > Incidental Mutation

Incidental Mutation 'R4671:Anks1'

348468

Institutional Source

Beutler Lab

Gene Symbol

Anks1

Ensembl Gene

ENSMUSG00000024219

Gene Name

ankyrin repeat and SAM domain containing 1

Synonyms

Odin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4671 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28128280-28281749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28270552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 805 (H805N)

Ref Sequence

ENSEMBL: ENSMUSP00000110491 (fasta)

Gene Model

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

AlphaFold

P59672

Predicted Effect

probably benign
Transcript: ENSMUST00000025058
AA Change: H805N

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
AA Change: H805N

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: H784N

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
AA Change: H784N

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

probably benign
Transcript: ENSMUST00000114842
AA Change: H805N

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
AA Change: H805N

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: ENSMUST00000139173

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,789,157 (GRCm39)	S271P	probably benign	Het
Acod1	T	G	14: 103,284,508 (GRCm39)	M2R	probably benign	Het
Adamts20	T	C	15: 94,301,206 (GRCm39)	E106G	possibly damaging	Het
Adgra3	G	A	5: 50,136,710 (GRCm39)	T661M	probably damaging	Het
Akap13	T	A	7: 75,229,312 (GRCm39)	C161*	probably null	Het
Akr1c12	A	C	13: 4,323,816 (GRCm39)	S162A	possibly damaging	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Banf1	T	C	19: 5,415,872 (GRCm39)	R33G	probably benign	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cacna1c	G	T	6: 118,629,019 (GRCm39)	H1240N	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Ccdc127	T	A	13: 74,505,164 (GRCm39)	Y237*	probably null	Het
Ccnb1ip1	A	T	14: 51,029,734 (GRCm39)	Y109*	probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Cps1	A	G	1: 67,235,719 (GRCm39)	Y951C	probably damaging	Het
Dcakd	T	C	11: 102,890,634 (GRCm39)	E51G	possibly damaging	Het
Dennd4a	A	T	9: 64,801,689 (GRCm39)	N944I	probably benign	Het
Dus3l	C	T	17: 57,075,566 (GRCm39)	R430C	probably benign	Het
Dync2h1	A	G	9: 7,169,640 (GRCm39)	L279P	possibly damaging	Het
Dzip3	G	A	16: 48,799,953 (GRCm39)	Q112*	probably null	Het
Eif1ad	T	A	19: 5,418,219 (GRCm39)	M1K	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fancg	T	C	4: 43,005,272 (GRCm39)	E366G	probably benign	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm11938	A	T	11: 99,493,832 (GRCm39)	C88S	possibly damaging	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Gucy2g	T	A	19: 55,226,500 (GRCm39)	I139F	probably damaging	Het
Iqub	A	T	6: 24,479,183 (GRCm39)	M453K	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kif23	A	T	9: 61,852,641 (GRCm39)	D24E	probably benign	Het
Kmt2c	T	C	5: 25,571,175 (GRCm39)	N845S	probably damaging	Het
Lhx5	G	A	5: 120,578,032 (GRCm39)	S284N	probably benign	Het
Lipf	T	G	19: 33,954,076 (GRCm39)	V389G	possibly damaging	Het
Lrrc7	C	T	3: 157,908,132 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,657,768 (GRCm39)		probably null	Het
Mast2	A	G	4: 116,165,847 (GRCm39)	S1287P	probably damaging	Het
Mepce	C	T	5: 137,784,905 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,382,691 (GRCm39)	V173A	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or1n2	G	A	2: 36,797,405 (GRCm39)	C149Y	probably benign	Het
Or2j6	T	G	7: 139,980,218 (GRCm39)	Y247S	probably damaging	Het
Or4k44	A	T	2: 111,368,280 (GRCm39)	M118K	probably damaging	Het
Or51e2	A	G	7: 102,391,808 (GRCm39)	V134A	probably damaging	Het
Or56a3b	T	C	7: 104,771,513 (GRCm39)	L283P	probably damaging	Het
Parp14	A	G	16: 35,678,691 (GRCm39)	F426L	probably benign	Het
Pcf11	A	T	7: 92,306,737 (GRCm39)	S1144T	possibly damaging	Het
Prpf3	T	A	3: 95,758,976 (GRCm39)	T59S	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptk7	A	G	17: 46,885,392 (GRCm39)	V678A	probably benign	Het
Rb1	A	G	14: 73,511,116 (GRCm39)	L331S	probably damaging	Het
Relch	A	G	1: 105,646,584 (GRCm39)	I637V	probably benign	Het
Sell	A	G	1: 163,893,042 (GRCm39)	Y86C	probably damaging	Het
Serpina1e	G	A	12: 103,914,341 (GRCm39)	R328W	probably damaging	Het
Sertad3	T	G	7: 27,176,091 (GRCm39)	L175R	possibly damaging	Het
Stard9	G	T	2: 120,529,121 (GRCm39)	G1793W	probably damaging	Het
Stra6	T	C	9: 58,056,517 (GRCm39)	I383T	probably benign	Het
Tcf7l1	A	G	6: 72,626,161 (GRCm39)	L154P	probably damaging	Het
Tent5c	C	A	3: 100,380,515 (GRCm39)	L80F	probably benign	Het
Tonsl	A	T	15: 76,507,610 (GRCm39)	D55E	probably benign	Het
Ttc21b	A	G	2: 66,057,257 (GRCm39)	S572P	possibly damaging	Het
Ttc7	T	A	17: 87,654,048 (GRCm39)	L575Q	probably damaging	Het
Ubl4b	C	T	3: 107,462,194 (GRCm39)	S22N	probably damaging	Het
Ubr4	T	C	4: 139,163,502 (GRCm39)	V2634A	possibly damaging	Het
Zbed6	A	G	1: 133,584,778 (GRCm39)	V853A	probably benign	Het
Zfp46	A	C	4: 136,017,484 (GRCm39)	D106A	probably damaging	Het
Zfp951	A	C	5: 104,962,567 (GRCm39)	I333S	probably benign	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
R0389:Anks1	UTSW	17	28,214,926 (GRCm39)	missense	possibly damaging	0.68
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
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'- AGCTCAAGGAGAAGCATCCTC -3'
(R):5'- AGCAGGTGAACTTTCAGGAC -3'

Sequencing Primer
(F):5'- GGAGAAGCATCCTCACCCCTC -3'
(R):5'- CAGGTGAACTTTCAGGACCTACAG -3'

Posted On

2015-10-08