Mutagenetix > Incidental Mutation

Incidental Mutation 'R6319:Akap11'

509352

Institutional Source

Beutler Lab

Gene Symbol

Akap11

Ensembl Gene

ENSMUSG00000022016

Gene Name

A kinase anchor protein 11

Synonyms

6330501D17Rik

MMRRC Submission

044474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78729686-78774248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78750978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 470 (T470A)

Ref Sequence

ENSEMBL: ENSMUSP00000116015 (fasta)

Gene Model

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

AlphaFold

E9Q777

Predicted Effect

probably benign
Transcript: ENSMUST00000022593
AA Change: T470A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: T470A

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: T470A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: T470A

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

Meta Mutation Damage Score

0.0863

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,651,723 (GRCm39)	S372P	probably benign	Het
Adam34	A	G	8: 44,104,952 (GRCm39)	I231T	probably benign	Het
Adgrg6	T	A	10: 14,307,366 (GRCm39)	H840L	probably damaging	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
B430306N03Rik	A	T	17: 48,623,771 (GRCm39)	Q24L	probably damaging	Het
Bmp6	A	T	13: 38,530,390 (GRCm39)	H161L	probably benign	Het
Cdca8	C	A	4: 124,815,087 (GRCm39)	D177Y	possibly damaging	Het
Col14a1	A	G	15: 55,379,565 (GRCm39)	T1693A	probably damaging	Het
Cpsf1	A	G	15: 76,481,167 (GRCm39)	S1230P	probably damaging	Het
Dcaf13	A	G	15: 39,007,067 (GRCm39)	T334A	probably benign	Het
Dhx32	A	C	7: 133,338,955 (GRCm39)	V360G	probably damaging	Het
Dmxl1	A	G	18: 49,985,367 (GRCm39)	T205A	probably benign	Het
Dxo	A	G	17: 35,057,367 (GRCm39)	E253G	probably damaging	Het
Enpp1	T	C	10: 24,523,929 (GRCm39)	Y747C	probably damaging	Het
Gga2	T	C	7: 121,601,389 (GRCm39)	E238G	possibly damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Grik4	A	T	9: 42,477,632 (GRCm39)	M518K	probably damaging	Het
Igf2r	T	A	17: 12,933,000 (GRCm39)	S841C	probably damaging	Het
Itfg1	G	T	8: 86,567,258 (GRCm39)	T37K	probably damaging	Het
Kcnn4	T	A	7: 24,081,165 (GRCm39)	M301K	possibly damaging	Het
Kel	C	A	6: 41,679,381 (GRCm39)	E127D	probably benign	Het
Lrp4	A	G	2: 91,310,666 (GRCm39)	Y569C	probably damaging	Het
Lrp6	A	T	6: 134,518,798 (GRCm39)	V89D	possibly damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Mnd1	A	G	3: 84,049,071 (GRCm39)	S2P	possibly damaging	Het
Neb	T	A	2: 52,053,023 (GRCm39)		probably null	Het
Or51af1	T	C	7: 103,141,932 (GRCm39)	E51G	possibly damaging	Het
Or5h23	A	G	16: 58,906,384 (GRCm39)	I154T	probably benign	Het
Or8g17	A	G	9: 38,930,810 (GRCm39)	V9A	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Plekhm3	A	T	1: 64,961,093 (GRCm39)	Y388N	probably benign	Het
Prr18	G	T	17: 8,560,143 (GRCm39)	V100F	probably damaging	Het
Rnf25	T	C	1: 74,634,890 (GRCm39)	Y44C	probably damaging	Het
Smg6	T	C	11: 75,047,048 (GRCm39)	L1247P	probably damaging	Het
Spata31e2	G	A	1: 26,724,482 (GRCm39)	R233C	probably benign	Het
Tdh	T	C	14: 63,733,186 (GRCm39)	T137A	probably benign	Het
Tmem200a	A	G	10: 25,869,393 (GRCm39)	V292A	probably damaging	Het
Ubr3	T	C	2: 69,803,758 (GRCm39)	V1116A	probably benign	Het
Ubr4	G	A	4: 139,136,200 (GRCm39)	E942K	possibly damaging	Het
Unc5b	G	A	10: 60,614,580 (GRCm39)	A239V	probably damaging	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Vmn2r115	A	G	17: 23,566,877 (GRCm39)	E463G	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
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
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'- CTGAACGCTACCTGTAATCACTG -3'
(R):5'- GTTAGAAAGCCAACTCCTCGC -3'

Sequencing Primer
(F):5'- GTTGAGTATGAAGAACTGAGC -3'
(R):5'- GCAAACCTGAGTCTCCGTATG -3'

Posted On

2018-04-02