Mutagenetix > Incidental Mutation

Incidental Mutation 'R5012:Anks1b'

390580

Institutional Source

Beutler Lab

Gene Symbol

Anks1b

Ensembl Gene

ENSMUSG00000058589

Gene Name

ankyrin repeat and sterile alpha motif domain containing 1B

Synonyms

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

MMRRC Submission

042603-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89709371-90809162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90194999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 560 (T560A)

Ref Sequence

ENSEMBL: ENSMUSP00000096968 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099368
AA Change: T560A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: T560A

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 benign
Transcript: ENSMUST00000182936
AA Change: T526A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589
AA Change: T526A

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 benign
Transcript: ENSMUST00000183156
AA Change: T560A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: T560A

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

Meta Mutation Damage Score

0.0747

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 90.9%

Validation Efficiency

98% (45/46)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,767,217 (GRCm39)	T268K	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Acsl1	A	G	8: 46,974,468 (GRCm39)	S314G	probably benign	Het
Aftph	G	A	11: 20,648,264 (GRCm39)		probably benign	Het
Ankrd34c	T	G	9: 89,611,709 (GRCm39)	I211L	probably benign	Het
Carmil1	G	T	13: 24,208,403 (GRCm39)	S1247R	possibly damaging	Het
Elf1	T	A	14: 79,808,174 (GRCm39)	Y172N	probably damaging	Het
Emx1	C	T	6: 85,180,955 (GRCm39)	P224L	probably benign	Het
Fastkd2	A	T	1: 63,789,055 (GRCm39)		probably benign	Het
Fbxw27	C	A	9: 109,602,271 (GRCm39)	C234F	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Igkv6-23	C	A	6: 70,237,529 (GRCm39)	A71S	probably damaging	Het
Igsf10	A	G	3: 59,226,143 (GRCm39)	L2510P	probably damaging	Het
Itgal	T	C	7: 126,898,802 (GRCm39)		probably null	Het
Kmt2c	C	A	5: 25,504,710 (GRCm39)	G122*	probably null	Het
Lamtor2	C	T	3: 88,460,163 (GRCm39)	R3H	possibly damaging	Het
Magi2	A	T	5: 20,670,618 (GRCm39)	T321S	probably damaging	Het
Mau2	A	G	8: 70,484,107 (GRCm39)		probably null	Het
Mcm7	A	T	5: 138,167,609 (GRCm39)		probably null	Het
Mitd1	A	T	1: 37,924,374 (GRCm39)	C59S	probably benign	Het
Muc6	A	G	7: 141,216,570 (GRCm39)	L2636P	possibly damaging	Het
Paip1	A	G	13: 119,584,338 (GRCm39)	M233V	probably benign	Het
Pcdhb11	C	A	18: 37,556,029 (GRCm39)	T453N	possibly damaging	Het
Plcb1	A	G	2: 135,175,320 (GRCm39)	N545S	probably null	Het
Prl8a9	A	T	13: 27,746,594 (GRCm39)		probably null	Het
Psmc2	A	G	5: 22,007,563 (GRCm39)	T308A	probably benign	Het
Rassf2	C	A	2: 131,851,610 (GRCm39)	R44L	probably damaging	Het
Scn11a	A	T	9: 119,609,944 (GRCm39)	M968K	probably benign	Het
Septin4	T	A	11: 87,475,230 (GRCm39)	S146T	possibly damaging	Het
Slc41a2	A	G	10: 83,137,127 (GRCm39)	I260T	probably benign	Het
Steap2	G	C	5: 5,727,784 (GRCm39)	L184V	possibly damaging	Het
Ttll5	G	A	12: 85,973,618 (GRCm39)	E776K	possibly damaging	Het
Vipr1	A	T	9: 121,487,111 (GRCm39)		probably null	Het
Yars2	T	C	16: 16,121,448 (GRCm39)	S201P	probably damaging	Het
Zfp386	T	A	12: 116,022,864 (GRCm39)	I194K	probably benign	Het
Zfp988	A	G	4: 147,416,060 (GRCm39)	I165V	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATCAACTGATTGGTTAGTGTCTC -3'
(R):5'- TCTGAGTACCCTAAACTACTGCTC -3'

Sequencing Primer
(F):5'- AATCACGCCCATTGTAGGTG -3'
(R):5'- CTACTGCTCATATAATGTGAACCAG -3'

Posted On

2016-06-06