Mutagenetix > Incidental Mutation

Incidental Mutation 'R1796:Akap8l'

202320

Institutional Source

Beutler Lab

Gene Symbol

Akap8l

Ensembl Gene

ENSMUSG00000002625

Gene Name

A kinase anchor protein 8-like

Synonyms

Nakap95

MMRRC Submission

039826-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

R1796 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

32540398-32569581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32551457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 511 (R511H)

Ref Sequence

ENSEMBL: ENSMUSP00000051389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050214]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050214
AA Change: R511H

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

SMART Domains

Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
AA Change: R511H

Domain	Start	End	E-Value	Type
low complexity region	37	62	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
low complexity region	112	120	N/A	INTRINSIC
low complexity region	236	257	N/A	INTRINSIC
low complexity region	296	306	N/A	INTRINSIC
low complexity region	307	324	N/A	INTRINSIC
low complexity region	330	350	N/A	INTRINSIC
coiled coil region	356	383	N/A	INTRINSIC
ZnF_C2H2	389	413	1.05e1	SMART
SCOP:d1jvr__	538	613	7e-5	SMART
low complexity region	628	640	N/A	INTRINSIC

Meta Mutation Damage Score

0.5342

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,662,156 (GRCm39)	S30F	probably benign	Het
Abtb1	T	C	6: 88,813,601 (GRCm39)	D379G	possibly damaging	Het
Adgre1	A	G	17: 57,748,350 (GRCm39)	I517V	probably benign	Het
Ajm1	C	T	2: 25,468,000 (GRCm39)	G637D	probably damaging	Het
Angpt4	G	A	2: 151,780,909 (GRCm39)	V386M	probably damaging	Het
Asic1	A	G	15: 99,594,535 (GRCm39)	H360R	probably null	Het
Asxl1	G	A	2: 153,243,526 (GRCm39)	A1359T	probably benign	Het
Atp8a2	C	T	14: 60,258,207 (GRCm39)		probably null	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
C1qtnf2	T	A	11: 43,382,114 (GRCm39)	F279I	probably damaging	Het
Car8	A	T	4: 8,221,671 (GRCm39)	L100*	probably null	Het
Cd52	T	C	4: 133,822,295 (GRCm39)	M1V	probably null	Het
Celf5	T	C	10: 81,303,053 (GRCm39)	I163V	possibly damaging	Het
Cep250	A	T	2: 155,834,107 (GRCm39)	T2010S	possibly damaging	Het
Cfap65	C	T	1: 74,958,107 (GRCm39)	V934M	probably damaging	Het
Colec11	A	T	12: 28,644,858 (GRCm39)	I212N	probably damaging	Het
Cpa3	C	T	3: 20,277,391 (GRCm39)		probably null	Het
Ctnnd1	G	T	2: 84,445,553 (GRCm39)	H495N	probably damaging	Het
Cyb5a	T	C	18: 84,869,686 (GRCm39)	V28A	probably benign	Het
Ddo	A	T	10: 40,523,625 (GRCm39)	Q205L	probably benign	Het
Dnah1	T	A	14: 30,983,050 (GRCm39)	N4195I	probably benign	Het
E2f1	A	T	2: 154,402,849 (GRCm39)	V306E	probably benign	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Eef1d	A	C	15: 75,773,024 (GRCm39)	F25C	probably damaging	Het
Ehd3	A	T	17: 74,137,354 (GRCm39)	I508F	probably damaging	Het
Eml6	T	A	11: 29,831,975 (GRCm39)	I232F	probably benign	Het
Enc1	T	A	13: 97,382,991 (GRCm39)	D500E	probably benign	Het
Enc1	C	A	13: 97,382,993 (GRCm39)	T501K	possibly damaging	Het
Fam83f	C	T	15: 80,574,283 (GRCm39)	R213W	possibly damaging	Het
Fbxo31	A	T	8: 122,287,177 (GRCm39)	L158*	probably null	Het
Fcgbpl1	C	T	7: 27,854,797 (GRCm39)	P1808S	probably damaging	Het
Foxi3	C	A	6: 70,937,794 (GRCm39)	T342N	possibly damaging	Het
Gpr179	T	A	11: 97,227,382 (GRCm39)	D1591V	possibly damaging	Het
Gpsm2	A	G	3: 108,609,166 (GRCm39)	V151A	probably damaging	Het
Grk2	T	G	19: 4,337,968 (GRCm39)	I513L	probably benign	Het
H2-Ab1	A	G	17: 34,486,346 (GRCm39)	E135G	probably damaging	Het
Herc1	A	T	9: 66,296,138 (GRCm39)	K578*	probably null	Het
Hycc1	T	G	5: 24,191,149 (GRCm39)	T173P	probably damaging	Het
Itpr2	T	C	6: 146,198,171 (GRCm39)	N1533S	probably benign	Het
Kif3c	A	G	12: 3,417,299 (GRCm39)	N440S	probably benign	Het
Klhdc2	T	C	12: 69,347,071 (GRCm39)		probably null	Het
Kmo	G	T	1: 175,465,461 (GRCm39)	V72L	probably benign	Het
Krt71	A	G	15: 101,651,315 (GRCm39)	I56T	possibly damaging	Het
Krt72	T	C	15: 101,689,987 (GRCm39)		probably null	Het
Krt78	T	A	15: 101,859,300 (GRCm39)	Q299L	probably damaging	Het
Loxhd1	C	T	18: 77,493,603 (GRCm39)	R1521C	probably damaging	Het
Loxhd1	G	A	18: 77,513,335 (GRCm39)	E1774K	possibly damaging	Het
Ly6g6f	T	C	17: 35,302,478 (GRCm39)	S20G	probably benign	Het
Mecr	T	A	4: 131,592,382 (GRCm39)	M282K	probably damaging	Het
Mfsd14a	G	T	3: 116,428,596 (GRCm39)	A353D	probably damaging	Het
Mroh9	A	T	1: 162,873,279 (GRCm39)	N564K	probably damaging	Het
Mrs2	T	A	13: 25,181,111 (GRCm39)	T237S	possibly damaging	Het
Mycbpap	A	G	11: 94,398,377 (GRCm39)	L534S	probably damaging	Het
Myh1	T	C	11: 67,115,183 (GRCm39)	I1906T	probably benign	Het
Myh4	T	A	11: 67,151,150 (GRCm39)	V1935D	probably benign	Het
Myo18a	T	C	11: 77,720,170 (GRCm39)	I684T	possibly damaging	Het
Myo7b	C	T	18: 32,119,728 (GRCm39)	R788H	possibly damaging	Het
Nbea	A	T	3: 55,551,129 (GRCm39)	D2678E	possibly damaging	Het
Ndufs3	A	C	2: 90,729,050 (GRCm39)	Y145*	probably null	Het
Nrros	A	G	16: 31,962,329 (GRCm39)	F563L	probably damaging	Het
Ntn4	T	C	10: 93,581,633 (GRCm39)	V602A	probably damaging	Het
Obscn	C	A	11: 58,920,163 (GRCm39)	R6736L	possibly damaging	Het
Odr4	T	C	1: 150,251,305 (GRCm39)	N283S	probably benign	Het
Or13c7d	T	A	4: 43,770,495 (GRCm39)	D172V	possibly damaging	Het
Or2ag16	T	C	7: 106,351,756 (GRCm39)	I280V	probably benign	Het
Or7g22	C	A	9: 19,049,213 (GRCm39)	T308K	probably benign	Het
Or8d1	T	A	9: 38,766,820 (GRCm39)	V154D	probably benign	Het
Or8g54	C	T	9: 39,707,301 (GRCm39)	P210L	possibly damaging	Het
Or8g55	A	G	9: 39,785,267 (GRCm39)	E232G	probably benign	Het
Pik3cd	A	G	4: 149,738,576 (GRCm39)	F751L	possibly damaging	Het
Plekhh2	A	G	17: 84,906,561 (GRCm39)		probably null	Het
Postn	A	G	3: 54,281,177 (GRCm39)	H434R	probably damaging	Het
Prss39	A	G	1: 34,539,114 (GRCm39)	D118G	possibly damaging	Het
Ralyl	G	T	3: 14,208,493 (GRCm39)	G211V	possibly damaging	Het
Rbak	T	A	5: 143,159,202 (GRCm39)	E617V	probably damaging	Het
Rbms3	A	T	9: 116,548,401 (GRCm39)	W80R	probably damaging	Het
Retnlg	A	T	16: 48,694,610 (GRCm39)	Y86F	probably benign	Het
Rtel1	T	A	2: 180,993,896 (GRCm39)	S643T	probably benign	Het
Semp2l2a	A	T	8: 13,886,816 (GRCm39)	L425*	probably null	Het
Serpina11	A	T	12: 103,950,954 (GRCm39)	F256I	probably damaging	Het
Setd2	A	T	9: 110,446,884 (GRCm39)		probably null	Het
Setd2	A	T	9: 110,379,413 (GRCm39)	Y1076F	probably benign	Het
Sgsm1	T	C	5: 113,421,483 (GRCm39)	T248A	possibly damaging	Het
Slc6a21	T	C	7: 44,930,179 (GRCm39)	Y193H	probably damaging	Het
Slfn9	T	C	11: 82,872,781 (GRCm39)	K652E	probably benign	Het
Stt3b	A	T	9: 115,077,675 (GRCm39)	Y692*	probably null	Het
Sval3	A	G	6: 41,945,096 (GRCm39)	Q8R	probably benign	Het
Synm	T	A	7: 67,383,748 (GRCm39)	I1305F	possibly damaging	Het
Tdrd1	T	C	19: 56,826,215 (GRCm39)	F169L	probably damaging	Het
Tecta	T	A	9: 42,295,493 (GRCm39)	D334V	probably damaging	Het
Tle2	G	A	10: 81,425,331 (GRCm39)		probably null	Het
Tmem243	A	G	5: 9,166,489 (GRCm39)	I30V	probably benign	Het
Treml2	T	C	17: 48,616,530 (GRCm39)	*330R	probably null	Het
Trpm6	A	G	19: 18,804,931 (GRCm39)	D961G	possibly damaging	Het
Ubr4	T	C	4: 139,155,907 (GRCm39)	V2244A	probably benign	Het
Unc79	G	T	12: 103,109,005 (GRCm39)	V2148F	probably damaging	Het
Ush2a	A	C	1: 188,643,024 (GRCm39)	T4129P	probably benign	Het
Vgll2	G	A	10: 51,901,324 (GRCm39)	V85I	probably damaging	Het
Vmn1r16	T	C	6: 57,300,256 (GRCm39)	Y122C	probably benign	Het
Vmn1r22	A	T	6: 57,877,134 (GRCm39)	I91N	probably damaging	Het
Vmn2r70	A	T	7: 85,213,011 (GRCm39)	Y465*	probably null	Het
Wdr64	A	T	1: 175,544,897 (GRCm39)	E110V	probably damaging	Het
Wfdc6a	A	T	2: 164,422,231 (GRCm39)	C123S	probably damaging	Het
Xrcc1	A	G	7: 24,247,252 (GRCm39)	Y30C	probably damaging	Het
Zdhhc7	T	C	8: 120,812,157 (GRCm39)	K155R	probably benign	Het
Zfp560	A	G	9: 20,263,226 (GRCm39)	F50S	possibly damaging	Het
Zfp616	C	T	11: 73,976,671 (GRCm39)	T980I	probably damaging	Het
Zfp808	C	T	13: 62,319,670 (GRCm39)	P300S	probably damaging	Het
Zfp979	G	A	4: 147,697,740 (GRCm39)	T323I	probably damaging	Het

Other mutations in Akap8l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Akap8l	APN	17	32,552,071 (GRCm39)	missense	possibly damaging	0.82
IGL01603:Akap8l	APN	17	32,564,327 (GRCm39)	missense	probably damaging	1.00
IGL02028:Akap8l	APN	17	32,557,495 (GRCm39)	splice site	probably null
IGL02033:Akap8l	APN	17	32,557,246 (GRCm39)	missense	probably damaging	1.00
IGL02301:Akap8l	APN	17	32,551,900 (GRCm39)	splice site	probably benign
R1136:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1137:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1192:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1277:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1279:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1703:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1705:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1706:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1727:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1763:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1774:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R1954:Akap8l	UTSW	17	32,555,710 (GRCm39)	missense	possibly damaging	0.74
R2072:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R2073:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R2074:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R2107:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R2108:Akap8l	UTSW	17	32,551,457 (GRCm39)	missense	probably damaging	1.00
R2214:Akap8l	UTSW	17	32,557,799 (GRCm39)	critical splice acceptor site	probably null
R2215:Akap8l	UTSW	17	32,540,569 (GRCm39)	missense	possibly damaging	0.72
R2219:Akap8l	UTSW	17	32,553,605 (GRCm39)	missense	probably benign	0.23
R2234:Akap8l	UTSW	17	32,557,777 (GRCm39)	missense	probably damaging	1.00
R2871:Akap8l	UTSW	17	32,557,416 (GRCm39)	missense	possibly damaging	0.84
R2871:Akap8l	UTSW	17	32,557,416 (GRCm39)	missense	possibly damaging	0.84
R4273:Akap8l	UTSW	17	32,540,905 (GRCm39)	nonsense	probably null
R4379:Akap8l	UTSW	17	32,540,488 (GRCm39)	unclassified	probably benign
R5061:Akap8l	UTSW	17	32,551,868 (GRCm39)	missense	probably damaging	1.00
R5337:Akap8l	UTSW	17	32,555,368 (GRCm39)	missense	possibly damaging	0.71
R5377:Akap8l	UTSW	17	32,540,485 (GRCm39)	unclassified	probably benign
R5579:Akap8l	UTSW	17	32,540,916 (GRCm39)	missense	probably damaging	1.00
R5609:Akap8l	UTSW	17	32,557,374 (GRCm39)	missense	probably damaging	1.00
R5667:Akap8l	UTSW	17	32,557,266 (GRCm39)	missense	probably damaging	1.00
R5671:Akap8l	UTSW	17	32,557,266 (GRCm39)	missense	probably damaging	1.00
R5747:Akap8l	UTSW	17	32,564,352 (GRCm39)	missense	probably damaging	0.97
R6186:Akap8l	UTSW	17	32,552,018 (GRCm39)	missense	probably benign	0.02
R6400:Akap8l	UTSW	17	32,555,294 (GRCm39)	missense	probably damaging	0.99
R6482:Akap8l	UTSW	17	32,564,370 (GRCm39)	missense	possibly damaging	0.94
R6712:Akap8l	UTSW	17	32,551,862 (GRCm39)	missense	probably damaging	1.00
R7165:Akap8l	UTSW	17	32,557,386 (GRCm39)	missense	probably damaging	0.99
R7485:Akap8l	UTSW	17	32,554,545 (GRCm39)	missense	probably benign	0.03
R7729:Akap8l	UTSW	17	32,552,068 (GRCm39)	missense	probably damaging	1.00
R9437:Akap8l	UTSW	17	32,553,608 (GRCm39)	missense	probably benign	0.24
R9651:Akap8l	UTSW	17	32,557,783 (GRCm39)	missense	probably damaging	1.00
R9652:Akap8l	UTSW	17	32,557,783 (GRCm39)	missense	probably damaging	1.00
V5088:Akap8l	UTSW	17	32,555,713 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCAGGTCTGTTTGTTGGCC -3'
(R):5'- CTCAGGCTCGTGTAGAAGTG -3'

Sequencing Primer
(F):5'- GTTGGCCTCTGATTTCTGAAAC -3'
(R):5'- CAGGCTCGTGTAGAAGTGTCAGG -3'

Posted On

2014-06-23