Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02176:Anks1b'

283105

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 #

IGL02176

Quality Score

Status

Chromosome

Chromosomal Location

89709371-90809162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89878530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 113 (H113L)

Ref Sequence

ENSEMBL: ENSMUSP00000138209 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099368
AA Change: H113L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: H113L

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 damaging
Transcript: ENSMUST00000182936
AA Change: H113L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589
AA Change: H113L

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

noncoding transcript
Transcript: ENSMUST00000183012

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183156
AA Change: H113L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: H113L

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	T	10: 20,846,815 (GRCm39)	R415L	probably benign	Het
Ankle1	C	A	8: 71,858,903 (GRCm39)	H45Q	probably damaging	Het
Arhgap33	T	A	7: 30,223,476 (GRCm39)	H851L	possibly damaging	Het
Atp12a	C	T	14: 56,624,636 (GRCm39)	S972L	probably damaging	Het
Atrip	T	C	9: 108,896,114 (GRCm39)	D301G	probably benign	Het
Bckdk	A	G	7: 127,505,545 (GRCm39)	T223A	probably benign	Het
C3	C	A	17: 57,533,337 (GRCm39)		probably benign	Het
C8g	A	G	2: 25,389,122 (GRCm39)	S154P	probably damaging	Het
Casz1	A	G	4: 149,019,076 (GRCm39)	D459G	probably damaging	Het
Cdca7	A	G	2: 72,314,988 (GRCm39)	T293A	probably damaging	Het
Cmya5	T	A	13: 93,226,658 (GRCm39)	D2810V	probably damaging	Het
CN725425	G	A	15: 91,130,024 (GRCm39)	V296I	probably benign	Het
Col17a1	A	G	19: 47,639,658 (GRCm39)	M1077T	probably benign	Het
Ddhd1	A	T	14: 45,854,057 (GRCm39)	H426Q	probably damaging	Het
Dpp6	C	T	5: 27,928,575 (GRCm39)	T799M	probably damaging	Het
Efs	C	T	14: 55,158,499 (GRCm39)	G53D	probably damaging	Het
Fer1l4	A	G	2: 155,890,371 (GRCm39)	V221A	probably benign	Het
Gabre	G	A	X: 71,318,259 (GRCm39)	Q17*	probably null	Het
Gpld1	T	C	13: 25,168,192 (GRCm39)		probably null	Het
Gpr107	T	A	2: 31,058,858 (GRCm39)	V116D	probably benign	Het
Huwe1	T	C	X: 150,686,964 (GRCm39)	S2283P	possibly damaging	Het
Ksr1	A	G	11: 78,911,617 (GRCm39)	S722P	probably benign	Het
Lmbrd2	A	G	15: 9,182,661 (GRCm39)	E532G	probably damaging	Het
Lrfn1	T	C	7: 28,158,111 (GRCm39)		probably benign	Het
Lrrc4c	A	G	2: 97,460,598 (GRCm39)	D408G	probably damaging	Het
Mbp	A	G	18: 82,572,670 (GRCm39)	E122G	probably damaging	Het
Myo9a	T	A	9: 59,777,836 (GRCm39)	D1197E	probably benign	Het
Ncor1	A	T	11: 62,220,485 (GRCm39)		probably benign	Het
Or2y17	A	G	11: 49,232,133 (GRCm39)	Y258C	probably benign	Het
Pdcd1lg2	A	G	19: 29,414,732 (GRCm39)	E53G	probably benign	Het
Phex	G	T	X: 156,051,489 (GRCm39)	A469E	probably damaging	Het
Pigo	A	G	4: 43,019,352 (GRCm39)	S957P	probably benign	Het
Ppargc1b	T	A	18: 61,443,946 (GRCm39)	R406*	probably null	Het
Ppargc1b	C	A	18: 61,443,945 (GRCm39)	R422I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Thnsl1	G	T	2: 21,216,665 (GRCm39)	A140S	possibly damaging	Het
Tm9sf3	A	G	19: 41,235,076 (GRCm39)		probably benign	Het
Tma7	T	A	9: 108,911,153 (GRCm39)		probably benign	Het
Tmtc2	T	G	10: 105,184,354 (GRCm39)	S514R	probably benign	Het
Unc79	G	A	12: 102,965,006 (GRCm39)		probably null	Het
Wdr89	A	T	12: 75,679,897 (GRCm39)	I119N	probably damaging	Het
Wiz	C	A	17: 32,575,876 (GRCm39)	R843S	probably damaging	Het
Zfp275	T	A	X: 72,396,889 (GRCm39)	S12T	probably damaging	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
IGL02205:Anks1b	APN	10	89,906,956 (GRCm39)	missense	probably benign	0.00
IGL02465:Anks1b	APN	10	89,999,127 (GRCm39)	nonsense	probably null
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