Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00902:Akap11'

28926

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 #

IGL00902

Quality Score

Status

Chromosome

Chromosomal Location

78729686-78774248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78733278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1876 (S1876P)

Ref Sequence

ENSEMBL: ENSMUSP00000022593 (fasta)

Gene Model

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

AlphaFold

E9Q777

Predicted Effect

probably benign
Transcript: ENSMUST00000022593
AA Change: S1876P

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: S1876P

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 benign
Transcript: ENSMUST00000123853
AA Change: S1875P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: S1875P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227808

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	G	9: 90,070,847 (GRCm39)		probably null	Het
Bltp1	G	A	3: 37,095,494 (GRCm39)	G1001D	probably damaging	Het
Capn10	A	G	1: 92,870,281 (GRCm39)	I256V	probably benign	Het
Catsperg2	T	A	7: 29,400,568 (GRCm39)	H262L	possibly damaging	Het
Col22a1	C	A	15: 71,836,508 (GRCm39)	G509V	probably damaging	Het
Dab2ip	T	C	2: 35,607,124 (GRCm39)	F523S	probably damaging	Het
Dbnl	G	T	11: 5,748,105 (GRCm39)	A313S	probably benign	Het
Ddo	T	C	10: 40,523,550 (GRCm39)	V180A	probably damaging	Het
Enox1	A	G	14: 77,819,844 (GRCm39)	M200V	possibly damaging	Het
Fabp6	G	A	11: 43,489,543 (GRCm39)	R33C	probably damaging	Het
Gm9104	T	C	17: 45,776,940 (GRCm39)		probably benign	Het
Gspt1	C	T	16: 11,050,443 (GRCm39)	V303I	probably damaging	Het
Igf2r	C	T	17: 12,919,245 (GRCm39)	C1469Y	probably damaging	Het
Igflr1	T	C	7: 30,266,700 (GRCm39)	S183P	possibly damaging	Het
Itga6	T	C	2: 71,679,738 (GRCm39)	V1001A	probably benign	Het
Itih1	G	A	14: 30,654,439 (GRCm39)		probably benign	Het
Itprid2	G	A	2: 79,490,822 (GRCm39)	R980Q	probably damaging	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Lrp5	T	C	19: 3,650,774 (GRCm39)	N1220S	probably damaging	Het
Marchf6	A	G	15: 31,485,124 (GRCm39)	Y434H	probably damaging	Het
Mbd1	A	G	18: 74,408,310 (GRCm39)	Y211C	possibly damaging	Het
Mpeg1	C	A	19: 12,439,133 (GRCm39)	A197D	probably damaging	Het
Mroh2b	T	A	15: 4,944,704 (GRCm39)	L435Q	probably damaging	Het
Mss51	A	C	14: 20,536,235 (GRCm39)	M160R	probably damaging	Het
Ndufs7	T	G	10: 80,091,839 (GRCm39)	Y190*	probably null	Het
Or6c38	T	A	10: 128,929,265 (GRCm39)	I193L	probably benign	Het
Or9g4b	T	C	2: 85,616,461 (GRCm39)	M202T	probably benign	Het
Pcdh17	A	G	14: 84,684,289 (GRCm39)	E252G	probably damaging	Het
Ric1	T	C	19: 29,544,631 (GRCm39)	V151A	probably benign	Het
Sgo2a	A	G	1: 58,055,258 (GRCm39)	T481A	probably benign	Het
Slc5a8	A	G	10: 88,755,323 (GRCm39)	T477A	probably benign	Het
Smg5	G	A	3: 88,260,392 (GRCm39)	V661I	probably benign	Het
Snx19	A	T	9: 30,340,028 (GRCm39)	I389F	possibly damaging	Het
Spem1	A	T	11: 69,712,643 (GRCm39)	I64N	probably damaging	Het
Thada	A	T	17: 84,755,404 (GRCm39)	M262K	probably damaging	Het
Uox	A	G	3: 146,316,161 (GRCm39)	D32G	possibly damaging	Het
Usp42	A	T	5: 143,705,629 (GRCm39)		probably benign	Het
Usp43	G	A	11: 67,782,245 (GRCm39)	P391L	probably benign	Het
Vmn2r56	T	C	7: 12,449,426 (GRCm39)	S271G	probably benign	Het
Wdr64	T	A	1: 175,556,391 (GRCm39)	C213S	probably damaging	Het
Zfp26	A	T	9: 20,350,844 (GRCm39)	S194T	possibly damaging	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
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
IGL02239:Akap11	APN	14	78,751,289 (GRCm39)	missense	probably damaging	1.00
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

2013-04-17