Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01519:Akap17b'

89391

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akap17b

Ensembl Gene

ENSMUSG00000059708

Gene Name

A kinase anchor protein 17B

Synonyms

Srsf17b, C230056F04Rik, Sfrs17b, Talia, B230333C21Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01519

Quality Score

Status

Chromosome

Chromosomal Location

35871967-35909048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35875503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 668 (D668G)

Ref Sequence

ENSEMBL: ENSMUSP00000052042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051906] [ENSMUST00000133980]

AlphaFold

A2A3V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000051906
AA Change: D668G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052042
Gene: ENSMUSG00000059708
AA Change: D668G

Domain	Start	End	E-Value	Type
SCOP:d1u2fa_	169	258	7e-6	SMART
coiled coil region	261	334	N/A	INTRINSIC
low complexity region	353	369	N/A	INTRINSIC
low complexity region	462	484	N/A	INTRINSIC
low complexity region	845	854	N/A	INTRINSIC
low complexity region	942	955	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133980

SMART Domains

Protein: ENSMUSP00000123406
Gene: ENSMUSG00000059708

Domain	Start	End	E-Value	Type
coiled coil region	9	82	N/A	INTRINSIC
low complexity region	101	117	N/A	INTRINSIC
low complexity region	210	232	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male chimeras hemizygous for a gene trapped allele are developmentally delayed and display failure of chorioallantoic fusion, a posterior truncation, neural tube defects, and impaired somite development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btbd3	A	G	2: 138,121,697 (GRCm39)	M127V	probably benign	Het
Btbd9	T	C	17: 30,518,575 (GRCm39)	T462A	possibly damaging	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Chd1	G	A	17: 17,598,831 (GRCm39)	G98R	probably damaging	Het
Ckap2	G	A	8: 22,658,914 (GRCm39)	R610C	probably benign	Het
Col18a1	C	T	10: 76,895,157 (GRCm39)	R1168H	probably damaging	Het
Csmd3	G	A	15: 47,460,246 (GRCm39)	T3515I	probably benign	Het
Dcn	A	G	10: 97,319,385 (GRCm39)	Q54R	probably damaging	Het
Dock11	A	G	X: 35,227,006 (GRCm39)	I86V	probably benign	Het
Dram2	T	A	3: 106,478,945 (GRCm39)	I179N	possibly damaging	Het
Fbn1	C	T	2: 125,158,939 (GRCm39)	M2275I	probably benign	Het
Gga2	A	G	7: 121,601,411 (GRCm39)	S231P	probably damaging	Het
Gk2	T	A	5: 97,603,646 (GRCm39)	L397F	probably damaging	Het
Gm8122	T	A	14: 43,092,696 (GRCm39)	I22L	unknown	Het
Golga4	A	G	9: 118,356,160 (GRCm39)	E104G	probably damaging	Het
Herc2	G	A	7: 55,753,698 (GRCm39)	R699H	probably damaging	Het
Hrh1	A	C	6: 114,457,262 (GRCm39)	E181A	probably damaging	Het
Lsm8	T	C	6: 18,851,699 (GRCm39)	F50S	probably damaging	Het
Or1f19	T	A	16: 3,410,398 (GRCm39)	I46N	probably damaging	Het
Pard6g	A	G	18: 80,123,071 (GRCm39)	D35G	probably benign	Het
Plod2	G	A	9: 92,477,348 (GRCm39)	V347I	probably benign	Het
Pramel51	T	C	12: 88,144,331 (GRCm39)	R161G	probably benign	Het
Snx13	T	C	12: 35,188,471 (GRCm39)		probably benign	Het
Taf1	T	A	X: 100,606,412 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,313,634 (GRCm39)	Y351C	probably damaging	Het
Tenm4	C	A	7: 96,544,384 (GRCm39)	D2133E	probably damaging	Het
Thap7	A	C	16: 17,346,609 (GRCm39)		probably benign	Het
Tpr	T	A	1: 150,306,919 (GRCm39)	S1505T	probably benign	Het
Trav9-2	C	T	14: 53,828,809 (GRCm39)	R60W	probably damaging	Het
Ttn	A	G	2: 76,708,692 (GRCm39)		probably benign	Het

Other mutations in Akap17b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Akap17b	APN	X	35,875,963 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-03