Mutagenetix > Incidental Mutation

Incidental Mutation 'R8146:Anks1b'

632817

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

067574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89709371-90809162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90143560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 523 (R523Q)

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 damaging
Transcript: ENSMUST00000099368
AA Change: R523Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: R523Q

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: R489Q

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

SMART Domains

Protein: ENSMUSP00000138209
Gene: ENSMUSG00000058589
AA Change: R489Q

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 damaging
Transcript: ENSMUST00000183156
AA Change: R523Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: R523Q

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

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 95.2%

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
4921504E06Rik	T	G	2: 19,498,814 (GRCm39)	E393A	possibly damaging	Het
4930550C14Rik	A	G	9: 53,334,270 (GRCm39)	D171G	probably damaging	Het
Abca13	T	C	11: 9,347,829 (GRCm39)	Y3561H	probably damaging	Het
Adgra2	T	A	8: 27,604,202 (GRCm39)	V464D	probably damaging	Het
Adgrl1	C	A	8: 84,657,618 (GRCm39)	T408N	possibly damaging	Het
Anks6	C	A	4: 47,043,605 (GRCm39)	A375S	unknown	Het
Bbs10	T	A	10: 111,136,396 (GRCm39)	I503K	probably benign	Het
Birc2	A	G	9: 7,818,797 (GRCm39)	I598T	probably damaging	Het
Cbl	A	T	9: 44,076,171 (GRCm39)	D339E	probably damaging	Het
Cdh4	C	A	2: 179,515,871 (GRCm39)	Q350K	possibly damaging	Het
Cep78	A	G	19: 15,933,727 (GRCm39)	L617P	probably damaging	Het
Cnbd2	T	G	2: 156,170,281 (GRCm39)	V122G	probably damaging	Het
Crem	A	T	18: 3,288,007 (GRCm39)	N158K	possibly damaging	Het
Cul1	T	C	6: 47,472,027 (GRCm39)	V56A	possibly damaging	Het
Dop1b	T	A	16: 93,546,827 (GRCm39)	I277N	possibly damaging	Het
Exoc3	T	C	13: 74,340,784 (GRCm39)	D340G	probably benign	Het
Exoc6b	A	C	6: 84,885,176 (GRCm39)	D254E	probably benign	Het
Fyttd1	A	G	16: 32,722,862 (GRCm39)	K268E	probably damaging	Het
Gbp8	T	A	5: 105,178,844 (GRCm39)	N157I	probably benign	Het
Hacd1	T	A	2: 14,049,605 (GRCm39)	S118C	probably damaging	Het
Hcn4	A	C	9: 58,731,027 (GRCm39)	E78A	unknown	Het
Inpp5e	T	A	2: 26,289,274 (GRCm39)	T549S	probably benign	Het
Kcnh4	T	C	11: 100,646,105 (GRCm39)	N281S	probably damaging	Het
Kdm5b	A	G	1: 134,552,864 (GRCm39)	D1280G	probably benign	Het
Lrfn3	A	G	7: 30,059,304 (GRCm39)	V307A	probably benign	Het
Mafb	A	G	2: 160,208,298 (GRCm39)	L100P	probably damaging	Het
Med24	C	T	11: 98,608,940 (GRCm39)	G119R	probably benign	Het
Mvp	G	T	7: 126,586,171 (GRCm39)	P866Q	probably benign	Het
Or51l4	A	G	7: 103,404,510 (GRCm39)	I94T	probably damaging	Het
Phykpl	T	C	11: 51,476,408 (GRCm39)	Y43H	probably damaging	Het
Prag1	T	G	8: 36,571,364 (GRCm39)	L649R	probably damaging	Het
Ptgdr2	T	C	19: 10,918,361 (GRCm39)	F293L	probably damaging	Het
Rasip1	T	G	7: 45,279,704 (GRCm39)	S316A	possibly damaging	Het
Rlf	G	A	4: 121,004,429 (GRCm39)	S1627L	probably benign	Het
Rtl1	T	C	12: 109,557,145 (GRCm39)	R1565G	probably benign	Het
Sart3	G	A	5: 113,886,018 (GRCm39)	T572M	probably damaging	Het
Sec24b	G	T	3: 129,789,573 (GRCm39)	S816*	probably null	Het
Slamf1	C	T	1: 171,619,887 (GRCm39)	P279L	probably benign	Het
Slc18a1	C	A	8: 69,495,401 (GRCm39)	V368F	possibly damaging	Het
Tap1	A	T	17: 34,408,206 (GRCm39)	D194V	probably damaging	Het
Tuba1c	A	G	15: 98,935,496 (GRCm39)	Y319C	probably damaging	Het
Unc79	T	A	12: 103,036,416 (GRCm39)	I579N	probably damaging	Het
Zbtb22	G	T	17: 34,135,956 (GRCm39)	V34L	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
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
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
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'- AGTCTTGAGGGGTAAACTGACTG -3'
(R):5'- TCCAAGAGCTAATAGAGAGTGC -3'

Sequencing Primer
(F):5'- CTGACTGATTAAGTTCATGGCAG -3'
(R):5'- GAGAGTGCAGTGTCTATTATGAAC -3'

Posted On

2020-06-30