Mutagenetix > Incidental Mutation

Incidental Mutation 'R1816:Anks1'

204454

Institutional Source

Beutler Lab

Gene Symbol

Anks1

Ensembl Gene

ENSMUSG00000024219

Gene Name

ankyrin repeat and SAM domain containing 1

Synonyms

Odin

MMRRC Submission

039844-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28128280-28281749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28205547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 294 (D294E)

Ref Sequence

ENSEMBL: ENSMUSP00000025058 (fasta)

Gene Model

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

AlphaFold

P59672

Predicted Effect

probably damaging
Transcript: ENSMUST00000025058
AA Change: D294E

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

SMART Domains

Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
AA Change: D294E

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: D273E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
AA Change: D273E

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 damaging
Transcript: ENSMUST00000114842
AA Change: D294E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
AA Change: D294E

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

Meta Mutation Damage Score

0.2175

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.9%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,644,222 (GRCm39)	Y721*	probably null	Het
4933405L10Rik	T	A	8: 106,436,491 (GRCm39)	V220E	possibly damaging	Het
4933434E20Rik	T	C	3: 89,960,398 (GRCm39)	V13A	possibly damaging	Het
Adam1b	T	G	5: 121,639,788 (GRCm39)	Q419P	probably damaging	Het
Ankib1	A	G	5: 3,784,028 (GRCm39)	V316A	probably benign	Het
Atr	T	C	9: 95,748,747 (GRCm39)	S431P	probably benign	Het
Bfsp1	C	T	2: 143,683,599 (GRCm39)	A242T	probably benign	Het
Bptf	A	T	11: 106,951,405 (GRCm39)	V279E	probably damaging	Het
Camkk2	A	G	5: 122,872,243 (GRCm39)	L540P	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam12	T	A	7: 17,805,690 (GRCm39)		probably null	Het
Cntnap5a	G	T	1: 116,356,618 (GRCm39)	A823S	probably benign	Het
Cp	T	C	3: 20,022,384 (GRCm39)		probably benign	Het
Dhx58	A	G	11: 100,593,978 (GRCm39)	V163A	probably damaging	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Disp1	T	A	1: 182,880,139 (GRCm39)	D288V	probably damaging	Het
Dnah7a	A	G	1: 53,670,901 (GRCm39)		probably benign	Het
Eaf2	T	G	16: 36,628,371 (GRCm39)		probably benign	Het
Efna1	T	C	3: 89,183,694 (GRCm39)	N44S	possibly damaging	Het
Etnppl	T	C	3: 130,428,211 (GRCm39)	I462T	probably benign	Het
Fam83d	G	T	2: 158,610,070 (GRCm39)	A13S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Fstl1	A	G	16: 37,647,086 (GRCm39)		probably null	Het
Gm14226	A	T	2: 154,867,549 (GRCm39)	D502V	probably damaging	Het
Gm5117	T	A	8: 32,228,986 (GRCm39)		noncoding transcript	Het
Gm973	A	G	1: 59,621,558 (GRCm39)	N566S	probably damaging	Het
Grm7	A	T	6: 111,472,752 (GRCm39)	K16*	probably null	Het
Hbb-bh2	G	A	7: 103,489,585 (GRCm39)	T17I	possibly damaging	Het
Htt	C	T	5: 34,961,084 (GRCm39)	A237V	probably benign	Het
Itga6	T	C	2: 71,671,153 (GRCm39)	V665A	probably benign	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Mki67	T	C	7: 135,309,116 (GRCm39)	D445G	possibly damaging	Het
Myo10	T	C	15: 25,800,286 (GRCm39)	V1454A	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Odam	A	G	5: 88,037,329 (GRCm39)		probably null	Het
Or1e33	T	C	11: 73,738,025 (GRCm39)	K309E	probably benign	Het
Or2ag13	A	T	7: 106,472,695 (GRCm39)	Y252*	probably null	Het
Or4p18	T	G	2: 88,232,943 (GRCm39)	I112L	possibly damaging	Het
Or5g29	G	T	2: 85,421,269 (GRCm39)	K128N	probably benign	Het
Or5p80	T	C	7: 108,229,364 (GRCm39)	L55P	probably damaging	Het
Or8k33	A	T	2: 86,384,011 (GRCm39)	C152*	probably null	Het
Pcm1	T	A	8: 41,762,574 (GRCm39)	S1412T	probably damaging	Het
Pgap1	A	G	1: 54,531,216 (GRCm39)	L753P	probably damaging	Het
Pi4k2b	T	C	5: 52,908,088 (GRCm39)	S153P	probably damaging	Het
Pik3c2b	C	T	1: 133,029,108 (GRCm39)	A1398V	probably benign	Het
Pkhd1l1	T	C	15: 44,391,635 (GRCm39)	I1567T	possibly damaging	Het
Rapgef6	G	A	11: 54,585,314 (GRCm39)	V1571I	probably benign	Het
Rfx2	C	A	17: 57,115,305 (GRCm39)	E5*	probably null	Het
Sh3tc1	C	A	5: 35,857,928 (GRCm39)		probably null	Het
Slc22a12	G	A	19: 6,592,683 (GRCm39)	Q20*	probably null	Het
Slc4a1	A	G	11: 102,242,056 (GRCm39)	C861R	probably damaging	Het
Snrnp25	G	A	11: 32,157,565 (GRCm39)	V48I	probably damaging	Het
Spata1	G	T	3: 146,186,962 (GRCm39)	P211Q	probably damaging	Het
Srgap1	G	A	10: 121,761,876 (GRCm39)	Q91*	probably null	Het
Stab1	T	C	14: 30,879,422 (GRCm39)	D686G	probably benign	Het
Stx8	T	A	11: 67,902,152 (GRCm39)	M112K	possibly damaging	Het
Tfap2b	A	T	1: 19,279,436 (GRCm39)	K15N	probably damaging	Het
Thbs2	C	A	17: 14,890,975 (GRCm39)	D1052Y	probably benign	Het
Thbs2	T	A	17: 14,890,976 (GRCm39)	E1051D	probably benign	Het
Thoc2l	A	G	5: 104,665,700 (GRCm39)	D74G	probably benign	Het
Tlr2	T	C	3: 83,745,516 (GRCm39)	Y189C	probably damaging	Het
Tmem268	C	A	4: 63,483,947 (GRCm39)	P55T	possibly damaging	Het
Tnpo3	T	C	6: 29,557,016 (GRCm39)	H745R	probably benign	Het
Trappc14	A	G	5: 138,258,603 (GRCm39)	V548A	possibly damaging	Het
Ube2s	T	C	7: 4,814,554 (GRCm39)	N2S	probably damaging	Het
Ulk1	A	G	5: 110,935,697 (GRCm39)	Y39H	probably damaging	Het
Vmn1r49	G	T	6: 90,049,785 (GRCm39)	D72E	possibly damaging	Het
Vmn2r27	C	A	6: 124,207,330 (GRCm39)	G104*	probably null	Het
Vmn2r92	A	G	17: 18,386,939 (GRCm39)	I93V	probably damaging	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zfp958	A	T	8: 4,679,147 (GRCm39)	I391F	possibly damaging	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
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'- TGTGCGACTCAGTCCTAGAG -3'
(R):5'- GACATTGGTGCTATGGCGTC -3'

Sequencing Primer
(F):5'- CCTAGAGCGCGGGACTATTGATG -3'
(R):5'- TGGAGGTCCTGTCCACTTC -3'

Posted On

2014-06-23