Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02562:Akap14'

298683

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akap14

Ensembl Gene

ENSMUSG00000036551

Gene Name

A kinase anchor protein 14

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL02562

Quality Score

Status

Chromosome

Chromosomal Location

36414351-36432495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36427441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 98 (T98M)

Ref Sequence

ENSEMBL: ENSMUSP00000048773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046557]

AlphaFold

Q3V0I7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046557
AA Change: T98M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048773
Gene: ENSMUSG00000036551
AA Change: T98M

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
low complexity region	64	79	N/A	INTRINSIC
low complexity region	125	138	N/A	INTRINSIC
low complexity region	160	300	N/A	INTRINSIC
low complexity region	351	375	N/A	INTRINSIC
low complexity region	388	399	N/A	INTRINSIC
Pfam:AKAP28	408	528	9.3e-50	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The human ortholog of this gene has been characterized. It is reported to be enriched in airway cilia and to regulate ciliary beat frequency by anchoring the protein kinase A holoenzyme near substrates in the axoneme. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,144,949 (GRCm39)	C33R	probably damaging	Het
Aifm3	A	G	16: 17,324,126 (GRCm39)	N562S	probably benign	Het
Atp7b	T	G	8: 22,518,101 (GRCm39)	T234P	probably benign	Het
Atp8b1	T	A	18: 64,715,057 (GRCm39)	Q65L	probably benign	Het
Bclaf3	T	C	X: 158,349,434 (GRCm39)	S600P	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col4a5	A	G	X: 140,439,671 (GRCm39)		probably benign	Het
Gigyf2	A	G	1: 87,335,097 (GRCm39)	D120G	probably benign	Het
Gm4953	A	T	1: 158,996,077 (GRCm39)		noncoding transcript	Het
Hip1r	G	T	5: 124,129,586 (GRCm39)		probably benign	Het
Itga2	A	G	13: 114,973,106 (GRCm39)		probably benign	Het
Itga3	T	C	11: 94,959,619 (GRCm39)	T85A	probably benign	Het
Loxl1	A	G	9: 58,196,199 (GRCm39)	S607P	probably damaging	Het
Marchf2	G	A	17: 33,915,048 (GRCm39)	T182I	probably damaging	Het
Mbd1	T	C	18: 74,409,993 (GRCm39)	S386P	probably benign	Het
Meis2	C	A	2: 115,879,627 (GRCm39)	G231V	probably damaging	Het
Myo1h	A	G	5: 114,496,053 (GRCm39)	K774E	probably benign	Het
Or10a2	C	A	7: 106,673,769 (GRCm39)	H245N	probably benign	Het
Or1e26	T	C	11: 73,480,237 (GRCm39)	N109S	probably benign	Het
Or2l5	A	T	16: 19,333,714 (GRCm39)	I224N	possibly damaging	Het
Or51ag1	G	T	7: 103,155,423 (GRCm39)	C243*	probably null	Het
Or8u9	T	G	2: 86,001,384 (GRCm39)	Y259S	probably damaging	Het
Pcm1	T	A	8: 41,778,405 (GRCm39)	D1813E	probably damaging	Het
Pdcl2	A	G	5: 76,467,038 (GRCm39)	Y52H	probably damaging	Het
Piezo1	T	C	8: 123,223,502 (GRCm39)	T816A	probably benign	Het
Ptpn13	T	G	5: 103,710,157 (GRCm39)	L1564R	probably damaging	Het
Pwwp3a	A	G	10: 80,074,729 (GRCm39)	D438G	probably damaging	Het
S2bpcox16	T	C	12: 81,557,616 (GRCm39)	D63G	probably damaging	Het
Slc7a2	T	A	8: 41,368,057 (GRCm39)	M607K	probably damaging	Het
Snrpa	T	A	7: 26,891,123 (GRCm39)	K116M	probably damaging	Het
Spon1	A	G	7: 113,635,996 (GRCm39)	S737G	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Sspo	A	G	6: 48,467,056 (GRCm39)		probably null	Het
Tubb4a	C	A	17: 57,388,163 (GRCm39)	E288*	probably null	Het
Vmn2r87	A	T	10: 130,314,513 (GRCm39)	C358S	probably damaging	Het

Other mutations in Akap14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Akap14	APN	X	36,414,484 (GRCm39)	missense	possibly damaging	0.92
R1495:Akap14	UTSW	X	36,427,618 (GRCm39)	missense	possibly damaging	0.85
R1857:Akap14	UTSW	X	36,420,779 (GRCm39)	missense	probably damaging	0.99
R1858:Akap14	UTSW	X	36,420,779 (GRCm39)	missense	probably damaging	0.99
Z1176:Akap14	UTSW	X	36,426,898 (GRCm39)	missense	unknown

Posted On

2015-04-16