Mutagenetix > Incidental Mutation

Incidental Mutation 'R4993:Akap11'

385048

Institutional Source

Beutler Lab

Gene Symbol

Akap11

Ensembl Gene

ENSMUSG00000022016

Gene Name

A kinase anchor protein 11

Synonyms

6330501D17Rik

MMRRC Submission

042587-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78729686-78774248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78750408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 660 (F660L)

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: F660L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: F660L

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: F660L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: F660L

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

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 41,191,052 (GRCm39)	Q126K	probably benign	Het
Abca15	C	A	7: 120,000,941 (GRCm39)	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,906,472 (GRCm39)	D402N	probably damaging	Het
Bcl3	T	C	7: 19,554,102 (GRCm39)	T89A	probably benign	Het
Bub1b	T	C	2: 118,467,251 (GRCm39)	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,352,214 (GRCm39)	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,502,530 (GRCm39)	D202V	probably damaging	Het
Dip2c	T	G	13: 9,625,259 (GRCm39)	Y584*	probably null	Het
Dpf3	A	T	12: 83,378,635 (GRCm39)		probably null	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Emid1	G	T	11: 5,081,512 (GRCm39)	Q212K	probably benign	Het
Esm1	C	T	13: 113,349,933 (GRCm39)	Q118*	probably null	Het
Fahd2a	T	G	2: 127,278,284 (GRCm39)	I308L	probably benign	Het
Fanci	T	C	7: 79,085,126 (GRCm39)	*851Q	probably null	Het
Fastkd1	C	A	2: 69,533,084 (GRCm39)	V428F	probably damaging	Het
Fat2	A	T	11: 55,173,918 (GRCm39)	I2265N	probably damaging	Het
Gale	C	A	4: 135,694,171 (GRCm39)	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,426,403 (GRCm39)	V153E	possibly damaging	Het
Gpc6	A	G	14: 117,861,951 (GRCm39)	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,191,537 (GRCm39)	Y153F	probably damaging	Het
Ints3	T	C	3: 90,322,814 (GRCm39)	T139A	probably benign	Het
Irf2bp2	A	G	8: 127,319,410 (GRCm39)	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640 (GRCm39)	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,219,820 (GRCm39)	H117P	probably damaging	Het
Lpl	A	G	8: 69,348,445 (GRCm39)	K225E	probably benign	Het
Lrba	T	A	3: 86,267,344 (GRCm39)	V1678D	probably damaging	Het
Med1	A	T	11: 98,054,730 (GRCm39)	F398Y	probably damaging	Het
Mfap2	T	C	4: 140,742,889 (GRCm39)	*186Q	probably null	Het
Mfsd3	T	C	15: 76,586,182 (GRCm39)	L105P	probably damaging	Het
Mlxip	T	G	5: 123,533,357 (GRCm39)	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,118,355 (GRCm39)	Y107F	probably damaging	Het
Mtg1	G	T	7: 139,720,196 (GRCm39)	D88Y	probably null	Het
Mutyh	T	A	4: 116,675,132 (GRCm39)	S426R	probably benign	Het
Myo16	C	T	8: 10,526,094 (GRCm39)	T878I	probably damaging	Het
Myo9a	T	A	9: 59,768,755 (GRCm39)	Y912*	probably null	Het
Ncor1	A	C	11: 62,234,167 (GRCm39)	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,202,935 (GRCm39)	I210V	probably benign	Het
Nek9	A	G	12: 85,357,194 (GRCm39)	C657R	probably damaging	Het
Noct	C	T	3: 51,157,442 (GRCm39)	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,334,042 (GRCm39)	M102K	probably benign	Het
Obscn	G	A	11: 59,015,587 (GRCm39)	R1054C	possibly damaging	Het
Or10ag58	T	A	2: 87,265,496 (GRCm39)	F222I	probably benign	Het
Or1j20	C	A	2: 36,760,000 (GRCm39)	Q141K	probably benign	Het
Or2a57	A	G	6: 43,213,390 (GRCm39)	M283V	possibly damaging	Het
Or51ah3	T	A	7: 103,210,524 (GRCm39)	I280N	possibly damaging	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or5p75-ps1	G	A	7: 108,107,450 (GRCm39)	M62I	probably damaging	Het
Otol1	C	A	3: 69,926,211 (GRCm39)	Q129K	probably benign	Het
Otx1	A	T	11: 21,948,532 (GRCm39)		probably null	Het
Pcdhac2	C	A	18: 37,279,304 (GRCm39)	N761K	probably damaging	Het
Pde1c	A	T	6: 56,127,609 (GRCm39)	M452K	probably damaging	Het
Phkg2	T	C	7: 127,173,113 (GRCm39)	Y24H	probably damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prg4	C	T	1: 150,336,432 (GRCm39)	C97Y	probably damaging	Het
Ptdss1	T	C	13: 67,093,352 (GRCm39)	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,289,231 (GRCm39)	K324E	probably damaging	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Riiad1	T	C	3: 94,380,170 (GRCm39)	T42A	probably benign	Het
Rims2	T	C	15: 39,317,841 (GRCm39)	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,190,770 (GRCm39)	S592Y	possibly damaging	Het
Scap	T	C	9: 110,207,458 (GRCm39)	L431P	probably damaging	Het
Siglec1	T	A	2: 130,915,281 (GRCm39)	I1437F	possibly damaging	Het
Skic3	T	A	13: 76,331,055 (GRCm39)	M1495K	probably damaging	Het
Skint1	T	C	4: 111,885,530 (GRCm39)		probably null	Het
Slc44a1	A	G	4: 53,543,644 (GRCm39)	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,639,867 (GRCm39)	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,004,129 (GRCm39)	S394R	probably damaging	Het
Socs1	A	G	16: 10,602,549 (GRCm39)	S63P	probably benign	Het
Spopfm2	C	T	3: 94,083,623 (GRCm39)	G63R	probably damaging	Het
Sun1	T	G	5: 139,211,088 (GRCm39)	S20A	possibly damaging	Het
Tac4	A	T	11: 95,156,068 (GRCm39)	K50*	probably null	Het
Tasor	T	A	14: 27,151,071 (GRCm39)	W16R	possibly damaging	Het
Tcaf2	A	G	6: 42,619,574 (GRCm39)	I151T	probably damaging	Het
Tcf4	T	C	18: 69,814,840 (GRCm39)	V587A	probably damaging	Het
Ttn	T	A	2: 76,571,253 (GRCm39)	K24801*	probably null	Het
Tuba3b	G	T	6: 145,566,999 (GRCm39)	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832 (GRCm39)	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,287,532 (GRCm39)	I212L	probably benign	Het
Umodl1	A	G	17: 31,205,459 (GRCm39)	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,773,878 (GRCm39)	V183D	probably damaging	Het
Ush2a	A	G	1: 188,642,917 (GRCm39)	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,204,653 (GRCm39)	S121N	probably damaging	Het
Vmn1r47	A	G	6: 89,999,740 (GRCm39)	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,701,449 (GRCm39)	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,487,176 (GRCm39)	H573L	probably benign	Het
Xirp1	C	T	9: 119,847,858 (GRCm39)	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204 (GRCm39)	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,415,963 (GRCm39)	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,464,465 (GRCm39)	K599N	probably damaging	Het
Zfp819	C	A	7: 43,266,720 (GRCm39)	T401K	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
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

Predicted Primers

PCR Primer
(F):5'- GCGTAGGTGATACACTTTCTGC -3'
(R):5'- GCATTTTCACTAAAAGAACGAGCC -3'

Sequencing Primer
(F):5'- GTAGGTGATACACTTTCTGCACTCAC -3'
(R):5'- AACGAGCCATTGGTAGCCTG -3'

Posted On

2016-05-10