Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02239:Akap11'

286001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akap11

Ensembl Gene

ENSMUSG00000022016

Gene Name

A kinase anchor protein 11

Synonyms

6330501D17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02239

Quality Score

Status

Chromosome

Chromosomal Location

78729686-78774248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78751289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 366 (L366P)

Ref Sequence

ENSEMBL: ENSMUSP00000116015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022593] [ENSMUST00000123853]

AlphaFold

E9Q777

Predicted Effect

probably damaging
Transcript: ENSMUST00000022593
AA Change: L366P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: L366P

Domain	Start	End	E-Value	Type
low complexity region	108	121	N/A	INTRINSIC
low complexity region	170	179	N/A	INTRINSIC
low complexity region	265	275	N/A	INTRINSIC
low complexity region	302	318	N/A	INTRINSIC
low complexity region	344	365	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	609	623	N/A	INTRINSIC
low complexity region	727	741	N/A	INTRINSIC
low complexity region	1161	1173	N/A	INTRINSIC
low complexity region	1597	1614	N/A	INTRINSIC
low complexity region	1631	1648	N/A	INTRINSIC
low complexity region	1738	1755	N/A	INTRINSIC
low complexity region	1767	1788	N/A	INTRINSIC
Blast:AKAP_110	1790	1883	2e-8	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000123853
AA Change: L366P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: L366P

Domain	Start	End	E-Value	Type
low complexity region	108	121	N/A	INTRINSIC
low complexity region	170	179	N/A	INTRINSIC
low complexity region	265	275	N/A	INTRINSIC
low complexity region	302	318	N/A	INTRINSIC
low complexity region	344	365	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	609	623	N/A	INTRINSIC
low complexity region	727	741	N/A	INTRINSIC
low complexity region	1161	1173	N/A	INTRINSIC
low complexity region	1597	1614	N/A	INTRINSIC
low complexity region	1631	1648	N/A	INTRINSIC
low complexity region	1731	1756	N/A	INTRINSIC
low complexity region	1768	1789	N/A	INTRINSIC
Blast:AKAP_110	1791	1884	2e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227722

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show a reduction in body size, body length and tibia length, hypoactivity, slow movement and increased anxiety-related responses, and exhibit actin barrier defects in kidney collecting duct cells and increased urine osmolality in response to overhydration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,369,386 (GRCm39)	E262G	possibly damaging	Het
Adgra3	T	A	5: 50,118,054 (GRCm39)	S1165C	probably damaging	Het
Astn1	T	C	1: 158,491,700 (GRCm39)		probably null	Het
Bhmt2	C	T	13: 93,799,687 (GRCm39)	G250R	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntnap2	A	G	6: 46,998,588 (GRCm39)	D880G	probably damaging	Het
Erc1	A	G	6: 119,750,852 (GRCm39)	V443A	probably damaging	Het
Fbxw15	A	G	9: 109,388,905 (GRCm39)	I168T	probably benign	Het
Fgfr2	C	T	7: 129,779,416 (GRCm39)	A504T	probably damaging	Het
Galm	A	G	17: 80,452,467 (GRCm39)	D135G	probably damaging	Het
Gstp3	C	T	19: 4,107,899 (GRCm39)	V145I	possibly damaging	Het
Hspa5	T	C	2: 34,662,788 (GRCm39)	F115L	probably benign	Het
Lig4	A	C	8: 10,022,473 (GRCm39)	S436A	probably damaging	Het
Ncam1	A	G	9: 49,478,702 (GRCm39)	V99A	probably damaging	Het
Nell1	T	A	7: 49,899,398 (GRCm39)	I336N	probably benign	Het
Or52ad1	T	C	7: 102,995,805 (GRCm39)	Y110C	probably damaging	Het
Or5p55	T	C	7: 107,567,254 (GRCm39)	S217P	probably damaging	Het
Or8g20	T	A	9: 39,395,857 (GRCm39)	I231F	probably damaging	Het
Patl1	A	T	19: 11,914,723 (GRCm39)	K625*	probably null	Het
Qrsl1	G	A	10: 43,770,596 (GRCm39)	P99S	possibly damaging	Het
Rfx8	T	C	1: 39,720,046 (GRCm39)	D343G	probably benign	Het
Scart2	T	C	7: 139,875,756 (GRCm39)	F340S	probably damaging	Het
Serpinb3a	T	A	1: 106,979,418 (GRCm39)	Y28F	probably benign	Het
Slc6a4	A	T	11: 76,917,982 (GRCm39)	I575F	probably benign	Het
Tbx5	T	A	5: 120,009,345 (GRCm39)	S285T	possibly damaging	Het
Tmem229a	A	T	6: 24,955,539 (GRCm39)	S72T	probably damaging	Het
Ttn	T	C	2: 76,576,748 (GRCm39)	D24715G	probably damaging	Het
Zfp784	T	C	7: 5,038,670 (GRCm39)		probably benign	Het
Zswim2	T	A	2: 83,769,107 (GRCm39)	K85*	probably null	Het

Other mutations in Akap11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Akap11	APN	14	78,748,781 (GRCm39)	missense	probably damaging	1.00
IGL00902:Akap11	APN	14	78,733,278 (GRCm39)	missense	probably benign	0.11
IGL01752:Akap11	APN	14	78,747,318 (GRCm39)	critical splice donor site	probably null
IGL01972:Akap11	APN	14	78,745,297 (GRCm39)	missense	probably damaging	0.99
IGL02031:Akap11	APN	14	78,751,253 (GRCm39)	missense	possibly damaging	0.50
IGL02528:Akap11	APN	14	78,748,307 (GRCm39)	missense	probably damaging	1.00
IGL02884:Akap11	APN	14	78,736,402 (GRCm39)	missense	probably benign	0.02
IGL03130:Akap11	APN	14	78,747,808 (GRCm39)	nonsense	probably null
IGL03179:Akap11	APN	14	78,745,180 (GRCm39)	missense	probably benign	0.00
IGL03240:Akap11	APN	14	78,733,345 (GRCm39)	missense	probably damaging	0.99
IGL03331:Akap11	APN	14	78,751,305 (GRCm39)	missense	probably damaging	1.00
bonham	UTSW	14	78,736,304 (GRCm39)	nonsense	probably null
R0004:Akap11	UTSW	14	78,752,380 (GRCm39)	missense	possibly damaging	0.65
R0020:Akap11	UTSW	14	78,755,617 (GRCm39)	missense	probably benign	0.37
R0200:Akap11	UTSW	14	78,748,193 (GRCm39)	missense	probably benign	0.00
R0281:Akap11	UTSW	14	78,747,529 (GRCm39)	missense	possibly damaging	0.84
R0320:Akap11	UTSW	14	78,750,819 (GRCm39)	missense	probably benign
R0381:Akap11	UTSW	14	78,750,990 (GRCm39)	missense	probably benign	0.01
R0536:Akap11	UTSW	14	78,751,464 (GRCm39)	missense	probably damaging	1.00
R0608:Akap11	UTSW	14	78,748,193 (GRCm39)	missense	probably benign	0.00
R0735:Akap11	UTSW	14	78,747,518 (GRCm39)	missense	probably damaging	1.00
R1189:Akap11	UTSW	14	78,750,787 (GRCm39)	missense	probably benign	0.11
R1400:Akap11	UTSW	14	78,751,402 (GRCm39)	missense	probably damaging	1.00
R1406:Akap11	UTSW	14	78,750,189 (GRCm39)	missense	probably benign
R1406:Akap11	UTSW	14	78,750,189 (GRCm39)	missense	probably benign
R1501:Akap11	UTSW	14	78,750,787 (GRCm39)	missense	probably benign	0.11
R1588:Akap11	UTSW	14	78,747,685 (GRCm39)	missense	possibly damaging	0.50
R1717:Akap11	UTSW	14	78,750,788 (GRCm39)	missense	probably benign	0.02
R1823:Akap11	UTSW	14	78,748,928 (GRCm39)	missense	probably damaging	1.00
R1847:Akap11	UTSW	14	78,751,101 (GRCm39)	missense	probably benign	0.00
R1874:Akap11	UTSW	14	78,749,306 (GRCm39)	missense	probably benign	0.14
R2031:Akap11	UTSW	14	78,747,477 (GRCm39)	missense	possibly damaging	0.86
R2032:Akap11	UTSW	14	78,747,477 (GRCm39)	missense	possibly damaging	0.86
R2276:Akap11	UTSW	14	78,747,477 (GRCm39)	missense	possibly damaging	0.86
R2763:Akap11	UTSW	14	78,756,332 (GRCm39)	missense	probably damaging	0.98
R4483:Akap11	UTSW	14	78,747,699 (GRCm39)	missense	probably damaging	1.00
R4582:Akap11	UTSW	14	78,749,369 (GRCm39)	missense	possibly damaging	0.81
R4857:Akap11	UTSW	14	78,736,300 (GRCm39)	missense
R4922:Akap11	UTSW	14	78,750,220 (GRCm39)	nonsense	probably null
R4993:Akap11	UTSW	14	78,750,408 (GRCm39)	missense	probably damaging	1.00
R5426:Akap11	UTSW	14	78,736,304 (GRCm39)	nonsense	probably null
R5472:Akap11	UTSW	14	78,750,869 (GRCm39)	missense	probably benign	0.03
R5683:Akap11	UTSW	14	78,750,018 (GRCm39)	missense	probably damaging	0.98
R5774:Akap11	UTSW	14	78,748,407 (GRCm39)	missense	probably damaging	1.00
R6014:Akap11	UTSW	14	78,749,939 (GRCm39)	missense	probably benign	0.00
R6264:Akap11	UTSW	14	78,749,861 (GRCm39)	missense	possibly damaging	0.68
R6270:Akap11	UTSW	14	78,756,239 (GRCm39)	missense	probably damaging	1.00
R6319:Akap11	UTSW	14	78,750,978 (GRCm39)	missense	probably benign	0.06
R6376:Akap11	UTSW	14	78,752,336 (GRCm39)	missense	probably damaging	1.00
R6394:Akap11	UTSW	14	78,760,029 (GRCm39)	critical splice donor site	probably null
R6536:Akap11	UTSW	14	78,748,754 (GRCm39)	missense	possibly damaging	0.81
R7048:Akap11	UTSW	14	78,749,954 (GRCm39)	missense
R7147:Akap11	UTSW	14	78,748,905 (GRCm39)	missense
R7473:Akap11	UTSW	14	78,751,328 (GRCm39)	missense
R7503:Akap11	UTSW	14	78,749,441 (GRCm39)	missense
R7542:Akap11	UTSW	14	78,747,732 (GRCm39)	missense
R7618:Akap11	UTSW	14	78,736,300 (GRCm39)	missense
R7679:Akap11	UTSW	14	78,752,256 (GRCm39)	missense
R7973:Akap11	UTSW	14	78,752,506 (GRCm39)	missense
R8094:Akap11	UTSW	14	78,750,413 (GRCm39)	missense
R8098:Akap11	UTSW	14	78,750,362 (GRCm39)	missense
R8226:Akap11	UTSW	14	78,748,649 (GRCm39)	missense
R8269:Akap11	UTSW	14	78,750,818 (GRCm39)	missense
R8304:Akap11	UTSW	14	78,750,672 (GRCm39)	missense
R8343:Akap11	UTSW	14	78,749,929 (GRCm39)	missense
R8389:Akap11	UTSW	14	78,756,322 (GRCm39)	missense
R8824:Akap11	UTSW	14	78,753,787 (GRCm39)	missense
R9034:Akap11	UTSW	14	78,748,299 (GRCm39)	missense
R9189:Akap11	UTSW	14	78,750,938 (GRCm39)	missense
R9259:Akap11	UTSW	14	78,749,949 (GRCm39)	missense
R9275:Akap11	UTSW	14	78,751,149 (GRCm39)	missense
R9434:Akap11	UTSW	14	78,747,829 (GRCm39)	missense
R9500:Akap11	UTSW	14	78,748,543 (GRCm39)	missense

Posted On

2015-04-16