Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02465:Anks1b'

294551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Anks1b

Ensembl Gene

ENSMUSG00000058589

Gene Name

ankyrin repeat and sterile alpha motif domain containing 1B

Synonyms

C030032C09Rik, Gm10937, AIDA-1b, LOC380650, E530015N03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02465

Quality Score

Status

Chromosome

Chromosomal Location

89709371-90809162 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 89999127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 411 (C411*)

Ref Sequence

ENSEMBL: ENSMUSP00000138539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099368] [ENSMUST00000182907] [ENSMUST00000182936] [ENSMUST00000183156]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000099368
AA Change: C411*

SMART Domains

Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: C411*

Domain	Start	End	E-Value	Type
low complexity region	21	46	N/A	INTRINSIC
ANK	58	87	1.88e-5	SMART
ANK	91	123	3.13e-2	SMART
ANK	127	156	6.92e-4	SMART
ANK	160	189	3.08e-1	SMART
ANK	193	222	1.43e-5	SMART
ANK	225	254	4.75e-2	SMART
low complexity region	498	513	N/A	INTRINSIC
low complexity region	551	577	N/A	INTRINSIC
low complexity region	659	670	N/A	INTRINSIC
SAM	806	875	2.06e-19	SMART
SAM	880	931	4.44e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182907

SMART Domains

Protein: ENSMUSP00000138614
Gene: ENSMUSG00000058589

Domain	Start	End	E-Value	Type
low complexity region	21	45	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000182936
AA Change: C377*

SMART Domains

Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589
AA Change: C377*

Domain	Start	End	E-Value	Type
low complexity region	21	46	N/A	INTRINSIC
ANK	58	87	1.88e-5	SMART
ANK	91	123	3.13e-2	SMART
ANK	127	156	6.92e-4	SMART
ANK	160	189	3.08e-1	SMART
ANK	193	222	1.43e-5	SMART
ANK	225	254	5.03e2	SMART
low complexity region	464	479	N/A	INTRINSIC
low complexity region	517	543	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000183156
AA Change: C411*

SMART Domains

Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: C411*

Domain	Start	End	E-Value	Type
low complexity region	21	46	N/A	INTRINSIC
ANK	58	87	1.88e-5	SMART
ANK	91	123	3.13e-2	SMART
ANK	127	156	6.92e-4	SMART
ANK	160	189	3.08e-1	SMART
ANK	193	222	1.43e-5	SMART
ANK	225	254	4.75e-2	SMART
low complexity region	498	513	N/A	INTRINSIC
low complexity region	551	577	N/A	INTRINSIC
low complexity region	659	670	N/A	INTRINSIC
SAM	806	875	2.06e-19	SMART
SAM	880	948	5.66e-17	SMART
low complexity region	968	983	N/A	INTRINSIC
PTB	1056	1194	2.94e-38	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons alters hippocampal synaptic transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	A	G	12: 4,250,906 (GRCm39)	D555G	probably benign	Het
Atp5pf	A	T	16: 84,625,358 (GRCm39)	Y82N	probably damaging	Het
Cd19	A	T	7: 126,012,730 (GRCm39)	V221D	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cyp4f13	A	T	17: 33,148,110 (GRCm39)		probably null	Het
Ddrgk1	T	C	2: 130,496,629 (GRCm39)	D245G	probably damaging	Het
Eya2	A	G	2: 165,557,872 (GRCm39)	D156G	possibly damaging	Het
Gm42763	T	C	9: 110,374,365 (GRCm39)		probably benign	Het
Gtdc1	T	C	2: 44,460,435 (GRCm39)	Y417C	probably damaging	Het
Map1b	T	C	13: 99,569,914 (GRCm39)	T936A	unknown	Het
Med23	G	A	10: 24,779,641 (GRCm39)	R906K	probably damaging	Het
Mill2	G	A	7: 18,592,168 (GRCm39)	W263*	probably null	Het
Mup20	T	C	4: 61,970,237 (GRCm39)	N107D	possibly damaging	Het
Neb	A	G	2: 52,083,177 (GRCm39)		probably benign	Het
Ntrk2	A	G	13: 59,208,194 (GRCm39)	N680S	probably damaging	Het
Or12d2	A	C	17: 37,624,802 (GRCm39)	S158A	probably damaging	Het
Or9a2	C	T	6: 41,748,490 (GRCm39)	V248I	probably damaging	Het
Pde3a	A	G	6: 141,195,401 (GRCm39)	H29R	possibly damaging	Het
Pik3c3	T	C	18: 30,477,113 (GRCm39)	I878T	probably damaging	Het
Plxnd1	A	G	6: 115,932,703 (GRCm39)	*1926R	probably null	Het
Prl8a9	T	A	13: 27,743,432 (GRCm39)	L124F	probably damaging	Het
Proser3	A	T	7: 30,242,958 (GRCm39)	N206K	possibly damaging	Het
Rasef	G	T	4: 73,652,725 (GRCm39)	T439N	probably damaging	Het
Slc6a18	T	C	13: 73,825,904 (GRCm39)	T49A	probably benign	Het
Spag17	A	C	3: 99,983,187 (GRCm39)	T1496P	probably damaging	Het
Vmn1r63	A	C	7: 5,806,038 (GRCm39)	V198G	probably damaging	Het
Vmn2r112	T	C	17: 22,833,975 (GRCm39)	S548P	probably damaging	Het
Vps13a	T	C	19: 16,688,305 (GRCm39)	D834G	probably benign	Het
Vps8	A	T	16: 21,340,653 (GRCm39)	N799I	probably damaging	Het
Zfhx4	A	G	3: 5,464,663 (GRCm39)	H1632R	possibly damaging	Het
Zp1	T	A	19: 10,897,851 (GRCm39)	E30V	probably benign	Het

Other mutations in Anks1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01669:Anks1b	APN	10	90,733,100 (GRCm39)	splice site	probably benign
IGL01890:Anks1b	APN	10	90,480,389 (GRCm39)	missense	probably benign	0.15
IGL01966:Anks1b	APN	10	90,730,994 (GRCm39)	missense	probably damaging	1.00
IGL02176:Anks1b	APN	10	89,878,530 (GRCm39)	missense	probably damaging	0.99
IGL02205:Anks1b	APN	10	89,906,956 (GRCm39)	missense	probably benign	0.00
IGL02534:Anks1b	APN	10	90,730,979 (GRCm39)	missense	probably benign	0.45
IGL02554:Anks1b	APN	10	90,757,240 (GRCm39)	missense	probably damaging	1.00
IGL02820:Anks1b	APN	10	89,912,921 (GRCm39)	missense	possibly damaging	0.93
IGL03164:Anks1b	APN	10	89,878,554 (GRCm39)	missense	probably damaging	1.00
R0096:Anks1b	UTSW	10	89,909,924 (GRCm39)	missense	possibly damaging	0.90
R0096:Anks1b	UTSW	10	89,909,924 (GRCm39)	missense	possibly damaging	0.90
R0482:Anks1b	UTSW	10	90,195,057 (GRCm39)	missense	probably benign	0.00
R0542:Anks1b	UTSW	10	89,909,829 (GRCm39)	splice site	probably benign
R0848:Anks1b	UTSW	10	89,906,987 (GRCm39)	missense	probably damaging	0.99
R1056:Anks1b	UTSW	10	90,757,291 (GRCm39)	splice site	probably null
R1398:Anks1b	UTSW	10	89,885,891 (GRCm39)	missense	probably damaging	1.00
R1446:Anks1b	UTSW	10	90,346,935 (GRCm39)	missense	probably benign	0.00
R1548:Anks1b	UTSW	10	89,885,847 (GRCm39)	missense	possibly damaging	0.79
R1551:Anks1b	UTSW	10	89,912,843 (GRCm39)	missense	probably benign	0.00
R1607:Anks1b	UTSW	10	89,878,410 (GRCm39)	missense	probably damaging	1.00
R1667:Anks1b	UTSW	10	90,347,046 (GRCm39)	critical splice donor site	probably null
R1701:Anks1b	UTSW	10	89,885,816 (GRCm39)	missense	probably damaging	1.00
R1843:Anks1b	UTSW	10	90,348,751 (GRCm39)	critical splice donor site	probably null
R1899:Anks1b	UTSW	10	90,096,618 (GRCm39)	missense	probably damaging	1.00
R1957:Anks1b	UTSW	10	89,885,792 (GRCm39)	missense	probably damaging	1.00
R2036:Anks1b	UTSW	10	90,805,715 (GRCm39)	missense	probably damaging	0.99
R2279:Anks1b	UTSW	10	89,885,958 (GRCm39)	missense	probably damaging	1.00
R2280:Anks1b	UTSW	10	90,802,164 (GRCm39)	missense	probably damaging	1.00
R2937:Anks1b	UTSW	10	89,912,928 (GRCm39)	missense	probably damaging	1.00
R3739:Anks1b	UTSW	10	89,869,078 (GRCm39)	missense	probably damaging	1.00
R4061:Anks1b	UTSW	10	90,143,484 (GRCm39)	missense	probably damaging	0.98
R4459:Anks1b	UTSW	10	90,346,706 (GRCm39)	missense	probably damaging	1.00
R4479:Anks1b	UTSW	10	89,885,754 (GRCm39)	missense	probably damaging	1.00
R4510:Anks1b	UTSW	10	90,346,652 (GRCm39)	missense	probably benign	0.01
R4511:Anks1b	UTSW	10	90,346,652 (GRCm39)	missense	probably benign	0.01
R4780:Anks1b	UTSW	10	89,709,594 (GRCm39)	missense	probably damaging	1.00
R4785:Anks1b	UTSW	10	90,750,612 (GRCm39)	missense	probably null	0.88
R4790:Anks1b	UTSW	10	89,999,137 (GRCm39)	missense	probably damaging	0.99
R5012:Anks1b	UTSW	10	90,194,999 (GRCm39)	missense	probably benign	0.06
R5400:Anks1b	UTSW	10	90,348,686 (GRCm39)	missense	probably damaging	1.00
R5586:Anks1b	UTSW	10	89,912,926 (GRCm39)	missense	probably damaging	0.98
R5687:Anks1b	UTSW	10	90,750,573 (GRCm39)	missense	probably benign	0.03
R5899:Anks1b	UTSW	10	90,759,379 (GRCm39)	splice site	probably null
R5917:Anks1b	UTSW	10	90,412,803 (GRCm39)	intron	probably benign
R5999:Anks1b	UTSW	10	90,194,910 (GRCm39)	missense	probably damaging	1.00
R6080:Anks1b	UTSW	10	90,802,211 (GRCm39)	nonsense	probably null
R6216:Anks1b	UTSW	10	90,096,618 (GRCm39)	missense	probably damaging	1.00
R6265:Anks1b	UTSW	10	90,777,362 (GRCm39)	missense	probably damaging	1.00
R6298:Anks1b	UTSW	10	90,516,699 (GRCm39)	missense	probably damaging	1.00
R6337:Anks1b	UTSW	10	90,757,158 (GRCm39)	missense	probably benign	0.27
R6522:Anks1b	UTSW	10	90,733,189 (GRCm39)	intron	probably benign
R6843:Anks1b	UTSW	10	90,784,460 (GRCm39)	missense	probably damaging	1.00
R6852:Anks1b	UTSW	10	90,096,516 (GRCm39)	missense	probably damaging	1.00
R6933:Anks1b	UTSW	10	89,905,352 (GRCm39)	missense	probably damaging	1.00
R7114:Anks1b	UTSW	10	90,143,560 (GRCm39)	missense	probably damaging	1.00
R7211:Anks1b	UTSW	10	90,346,932 (GRCm39)	missense	possibly damaging	0.94
R7241:Anks1b	UTSW	10	90,348,699 (GRCm39)	missense	probably damaging	1.00
R7264:Anks1b	UTSW	10	90,348,732 (GRCm39)	missense	probably benign	0.08
R7325:Anks1b	UTSW	10	90,777,294 (GRCm39)	missense	probably damaging	1.00
R7392:Anks1b	UTSW	10	90,516,648 (GRCm39)	missense	possibly damaging	0.47
R7578:Anks1b	UTSW	10	89,885,789 (GRCm39)	missense	probably damaging	1.00
R7604:Anks1b	UTSW	10	90,096,708 (GRCm39)	splice site	probably null
R7633:Anks1b	UTSW	10	90,784,446 (GRCm39)	missense	probably damaging	1.00
R7881:Anks1b	UTSW	10	90,802,880 (GRCm39)	missense	probably benign	0.07
R7910:Anks1b	UTSW	10	90,516,654 (GRCm39)	missense	probably damaging	1.00
R7941:Anks1b	UTSW	10	90,413,017 (GRCm39)	missense	probably damaging	0.98
R8045:Anks1b	UTSW	10	90,516,722 (GRCm39)	missense	probably benign
R8146:Anks1b	UTSW	10	90,143,560 (GRCm39)	missense	probably damaging	1.00
R8176:Anks1b	UTSW	10	89,905,353 (GRCm39)	missense	probably damaging	1.00
R8535:Anks1b	UTSW	10	90,784,493 (GRCm39)	missense	probably benign	0.00
R8681:Anks1b	UTSW	10	89,885,868 (GRCm39)	missense	probably damaging	0.99
R9300:Anks1b	UTSW	10	90,412,966 (GRCm39)	missense	possibly damaging	0.93
R9469:Anks1b	UTSW	10	90,733,205 (GRCm39)	missense	possibly damaging	0.58
R9541:Anks1b	UTSW	10	90,412,947 (GRCm39)	missense	probably benign	0.02
R9550:Anks1b	UTSW	10	90,412,360 (GRCm39)	start codon destroyed	probably null
R9653:Anks1b	UTSW	10	90,346,524 (GRCm39)	missense	probably damaging	1.00
RF004:Anks1b	UTSW	10	89,869,087 (GRCm39)	missense	probably damaging	1.00
RF008:Anks1b	UTSW	10	89,869,087 (GRCm39)	missense	probably damaging	1.00
RF017:Anks1b	UTSW	10	89,869,087 (GRCm39)	missense	probably damaging	1.00
RF018:Anks1b	UTSW	10	89,869,087 (GRCm39)	missense	probably damaging	1.00
RF023:Anks1b	UTSW	10	89,869,087 (GRCm39)	missense	probably damaging	1.00
X0064:Anks1b	UTSW	10	90,348,707 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16