Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01890:Anks1b'

179223

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 #

IGL01890

Quality Score

Status

Chromosome

Chromosomal Location

89709371-90809162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90480389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 865 (I865V)

Ref Sequence

ENSEMBL: ENSMUSP00000096968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099364] [ENSMUST00000099368] [ENSMUST00000182053] [ENSMUST00000182113] [ENSMUST00000182284] [ENSMUST00000182356] [ENSMUST00000182427] [ENSMUST00000182786] [ENSMUST00000182960] [ENSMUST00000183156] [ENSMUST00000182550] [ENSMUST00000182595] [ENSMUST00000182430] [ENSMUST00000183136] [ENSMUST00000182600] [ENSMUST00000182907]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099364
AA Change: I92V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000096965
Gene: ENSMUSG00000058589
AA Change: I92V

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
PTB	131	269	1.5e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099368
AA Change: I865V

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096968
Gene: ENSMUSG00000058589
AA Change: I865V

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: ENSMUST00000182053
AA Change: I61V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000138644
Gene: ENSMUSG00000058589
AA Change: I61V

Domain	Start	End	E-Value	Type
SAM	2	71	1.19e-19	SMART
SAM	76	144	5.66e-17	SMART
PTB	192	330	2.94e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182113
AA Change: I92V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138655
Gene: ENSMUSG00000058589
AA Change: I92V

Domain	Start	End	E-Value	Type
SAM	33	102	1.19e-19	SMART
SAM	107	175	5.66e-17	SMART
low complexity region	195	210	N/A	INTRINSIC
PTB	307	445	2.94e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182284
AA Change: I92V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138794
Gene: ENSMUSG00000058589
AA Change: I92V

Domain	Start	End	E-Value	Type
SAM	33	102	1.19e-19	SMART
SAM	107	175	5.66e-17	SMART
PTB	248	386	2.94e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182356
AA Change: I35V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000138234
Gene: ENSMUSG00000058589
AA Change: I35V

Domain	Start	End	E-Value	Type
SAM	1	45	4.05e1	SMART
SAM	50	118	5.66e-17	SMART
low complexity region	138	153	N/A	INTRINSIC
PTB	226	364	2.94e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182427
AA Change: I61V

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138480
Gene: ENSMUSG00000058589
AA Change: I61V

Domain	Start	End	E-Value	Type
SAM	2	71	1.19e-19	SMART
SAM	76	144	5.66e-17	SMART
low complexity region	164	179	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182786
AA Change: I35V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138720
Gene: ENSMUSG00000058589
AA Change: I35V

Domain	Start	End	E-Value	Type
Pfam:SAM_2	1	42	8.4e-8	PFAM
Pfam:SAM_1	2	43	5.4e-7	PFAM
Pfam:SAM_1	51	97	4.4e-10	PFAM
Pfam:SAM_2	52	95	6.1e-7	PFAM
PTB	155	293	2.94e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182960
AA Change: I92V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138222
Gene: ENSMUSG00000058589
AA Change: I92V

Domain	Start	End	E-Value	Type
SAM	33	102	1.19e-19	SMART
SAM	107	175	5.66e-17	SMART
PTB	247	385	2.94e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183156
AA Change: I865V

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
AA Change: I865V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182550
AA Change: I92V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138643
Gene: ENSMUSG00000058589
AA Change: I92V

Domain	Start	End	E-Value	Type
SAM	33	102	1.19e-19	SMART
SAM	107	175	5.66e-17	SMART
low complexity region	195	210	N/A	INTRINSIC
PTB	308	446	2.94e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182595
AA Change: I92V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138314
Gene: ENSMUSG00000058589
AA Change: I92V

Domain	Start	End	E-Value	Type
SAM	33	102	1.19e-19	SMART
SAM	107	175	5.66e-17	SMART
low complexity region	195	210	N/A	INTRINSIC
PTB	283	421	2.94e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182430
AA Change: I92V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000138660
Gene: ENSMUSG00000058589
AA Change: I92V

Domain	Start	End	E-Value	Type
SAM	33	102	1.19e-19	SMART
SAM	107	175	5.66e-17	SMART
PTB	223	361	2.94e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183136
AA Change: I92V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138738
Gene: ENSMUSG00000058589
AA Change: I92V

Domain	Start	End	E-Value	Type
SAM	33	102	1.19e-19	SMART
SAM	107	175	5.66e-17	SMART
low complexity region	195	210	N/A	INTRINSIC
PTB	307	445	2.94e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182600
AA Change: I35V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138650
Gene: ENSMUSG00000058589
AA Change: I35V

Domain	Start	End	E-Value	Type
SAM	1	45	4.05e1	SMART
SAM	50	118	5.66e-17	SMART
PTB	216	354	2.94e-38	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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	T	12: 80,231,642 (GRCm39)	V265E	probably damaging	Het
Car5a	G	A	8: 122,650,349 (GRCm39)	A182V	probably benign	Het
Ccdc47	A	G	11: 106,096,277 (GRCm39)	V249A	probably damaging	Het
Cyb561d2	A	G	9: 107,418,722 (GRCm39)	V34A	probably damaging	Het
Dmbt1	A	G	7: 130,676,149 (GRCm39)		probably benign	Het
Entpd6	G	A	2: 150,612,612 (GRCm39)	D445N	possibly damaging	Het
Fastkd2	A	G	1: 63,771,320 (GRCm39)	I225M	probably benign	Het
Flcn	A	G	11: 59,685,996 (GRCm39)	V424A	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gpn3	A	G	5: 122,519,328 (GRCm39)	M176V	probably benign	Het
Igkv12-38	C	T	6: 69,920,389 (GRCm39)	C43Y	probably damaging	Het
Oas1h	A	G	5: 121,000,852 (GRCm39)		probably null	Het
Rexo1	A	T	10: 80,378,845 (GRCm39)	Y1064N	possibly damaging	Het
Skint1	G	A	4: 111,867,878 (GRCm39)	G2R	probably damaging	Het
Slc4a9	G	A	18: 36,662,760 (GRCm39)	A172T	possibly damaging	Het
Synpo2	A	G	3: 122,906,146 (GRCm39)	S727P	probably damaging	Het
Tmem131	A	T	1: 36,862,237 (GRCm39)		probably benign	Het
Trpm3	G	T	19: 22,689,083 (GRCm39)	R4L	probably damaging	Het
Upf1	A	T	8: 70,786,880 (GRCm39)	V879E	possibly damaging	Het
Vmn1r194	A	T	13: 22,428,776 (GRCm39)	Y131F	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r95	T	A	17: 18,671,737 (GRCm39)	N491K	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
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
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

2014-05-07