Mutagenetix > Incidental Mutation

Incidental Mutation 'R8389:Akap11'

647295

Institutional Source

Beutler Lab

Gene Symbol

Akap11

Ensembl Gene

ENSMUSG00000022016

Gene Name

A kinase anchor protein 11

Synonyms

6330501D17Rik

MMRRC Submission

067754-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8389 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78729686-78774248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78756322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 25 (D25E)

Ref Sequence

ENSEMBL: ENSMUSP00000022593 (fasta)

Gene Model

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

AlphaFold

E9Q777

Predicted Effect

SMART Domains

Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: D25E

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

SMART Domains

Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: D25E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	C	T	1: 66,893,906 (GRCm39)	G83E	probably damaging	Het
Adamtsl2	A	G	2: 26,993,136 (GRCm39)	D722G	possibly damaging	Het
Akr1c21	C	T	13: 4,626,278 (GRCm39)	R101W	probably damaging	Het
Ano2	T	C	6: 125,957,132 (GRCm39)	Y634H	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cfap221	T	C	1: 119,851,301 (GRCm39)	E820G	probably damaging	Het
Chad	A	G	11: 94,458,718 (GRCm39)	D289G	probably benign	Het
Col4a2	C	A	8: 11,498,132 (GRCm39)	A1647E	probably damaging	Het
Dhx32	G	T	7: 133,326,935 (GRCm39)	T522K	possibly damaging	Het
Eloa	A	G	4: 135,733,622 (GRCm39)	V707A	probably benign	Het
Fam219a	A	G	4: 41,520,935 (GRCm39)	S109P	probably damaging	Het
Ftl1	A	T	7: 45,108,651 (GRCm39)	F36I	probably benign	Het
Furin	C	T	7: 80,040,627 (GRCm39)	R737Q	probably benign	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gpt	C	T	15: 76,583,242 (GRCm39)	T393M	probably damaging	Het
Greb1l	A	T	18: 10,529,613 (GRCm39)	D865V	probably benign	Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Klk1b11	G	A	7: 43,649,120 (GRCm39)	C219Y	probably damaging	Het
Lcn11	A	T	2: 25,669,043 (GRCm39)	D117V	probably damaging	Het
Lrpprc	A	T	17: 85,080,742 (GRCm39)	V161D	possibly damaging	Het
Lrrk2	T	C	15: 91,584,194 (GRCm39)	L318S	probably damaging	Het
Muc5b	A	G	7: 141,415,516 (GRCm39)	T2821A	possibly damaging	Het
Mysm1	A	G	4: 94,853,849 (GRCm39)	M250T	probably benign	Het
Nol12	A	G	15: 78,819,268 (GRCm39)	K27E	probably damaging	Het
Omg	T	A	11: 79,393,001 (GRCm39)	M286L	probably benign	Het
Or4c100	G	A	2: 88,355,931 (GRCm39)	M1I	probably null	Het
Or8g32	A	G	9: 39,305,912 (GRCm39)	K272R	probably damaging	Het
Pdyn	A	G	2: 129,530,357 (GRCm39)	L104P	probably benign	Het
Pira2	A	C	7: 3,846,888 (GRCm39)	L218R	probably damaging	Het
Pnpt1	A	T	11: 29,080,758 (GRCm39)	M1L	unknown	Het
Pofut2	C	T	10: 77,101,785 (GRCm39)	T274M	probably benign	Het
Pramel34	A	T	5: 93,785,587 (GRCm39)	F231Y	probably benign	Het
Rbm12b1	C	A	4: 12,146,363 (GRCm39)	D778E	probably damaging	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
Tbc1d14	G	A	5: 36,687,792 (GRCm39)		probably benign	Het
Tcf23	A	G	5: 31,127,464 (GRCm39)	K89E	probably benign	Het
Tmem74	C	T	15: 43,730,315 (GRCm39)	G243R	probably damaging	Het
Ufd1	T	C	16: 18,639,853 (GRCm39)	V119A	possibly damaging	Het
Vmn2r72	A	T	7: 85,401,168 (GRCm39)	Y84N	probably damaging	Het
Zfp120	A	T	2: 149,959,327 (GRCm39)	C354S	probably damaging	Het
Zfp69	G	A	4: 120,806,549 (GRCm39)	T28I	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp959	T	C	17: 56,204,299 (GRCm39)	V112A	probably benign	Het
Zfr2	T	A	10: 81,081,323 (GRCm39)	W458R	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAATCACTAGTATTATGTACAGC -3'
(R):5'- AAGTGAATCTGGAGTATAGGTCTG -3'

Sequencing Primer
(F):5'- GTACAGCTTTTAAAAACAGAGCCTG -3'
(R):5'- ATAGGTCTGTATTGTTTTCCAGGAAC -3'

Posted On

2020-09-02