Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02301:Akap8l'

290308

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akap8l

Ensembl Gene

ENSMUSG00000002625

Gene Name

A kinase (PRKA) anchor protein 8-like

Synonyms

Nakap95

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.694) question?

Stock #

IGL02301

Quality Score

Status

Chromosome

Chromosomal Location

32321425-32350581 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 32332926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000051389 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050214

SMART Domains

Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	T	C	17: 71,874,176 (GRCm38)	Q1373R	probably damaging	Het
Atf7ip2	T	G	16: 10,211,047 (GRCm38)	S148A	probably benign	Het
Bpi	C	T	2: 158,274,814 (GRCm38)	S377F	probably damaging	Het
Ccni	A	T	5: 93,188,175 (GRCm38)	C122S	possibly damaging	Het
Cd5l	A	G	3: 87,365,993 (GRCm38)	R90G	probably benign	Het
Ceacam3	C	T	7: 17,163,101 (GRCm38)	S664F	probably damaging	Het
Clca3a2	A	T	3: 144,806,372 (GRCm38)	D534E	probably damaging	Het
Ep400	A	T	5: 110,674,960 (GRCm38)	S2524R	probably damaging	Het
Fhdc1	G	A	3: 84,444,735 (GRCm38)	A1061V	possibly damaging	Het
Gart	A	G	16: 91,621,837 (GRCm38)		probably benign	Het
Gsdmc4	A	G	15: 63,895,264 (GRCm38)	V219A	probably benign	Het
Hus1	T	C	11: 8,996,915 (GRCm38)	T261A	probably benign	Het
Lman2l	A	G	1: 36,443,543 (GRCm38)	I84T	probably damaging	Het
Megf8	G	A	7: 25,337,900 (GRCm38)	V742M	probably damaging	Het
Myo1d	A	G	11: 80,676,853 (GRCm38)	V267A	probably benign	Het
Notch2	A	G	3: 98,141,554 (GRCm38)	T1803A	probably benign	Het
Or1e17	T	A	11: 73,941,068 (GRCm38)	M274K	possibly damaging	Het
Or4f54	T	A	2: 111,292,697 (GRCm38)	M143K	probably benign	Het
Or6c70	A	G	10: 129,874,079 (GRCm38)	F226S	probably damaging	Het
Pate11	T	C	9: 36,477,187 (GRCm38)		probably benign	Het
Pde5a	G	A	3: 122,760,885 (GRCm38)	R208Q	probably damaging	Het
Pla2r1	T	C	2: 60,452,436 (GRCm38)	N745S	probably benign	Het
Ptgdr2	T	A	19: 10,940,209 (GRCm38)	I30N	possibly damaging	Het
Rap1gap2	G	A	11: 74,407,369 (GRCm38)	T415I	probably damaging	Het
Slc6a6	T	C	6: 91,726,056 (GRCm38)	Y137H	probably benign	Het
Sptbn1	A	T	11: 30,142,129 (GRCm38)	D532E	probably damaging	Het
Stk39	T	C	2: 68,211,962 (GRCm38)	D543G	probably damaging	Het
Trpc4	G	A	3: 54,291,232 (GRCm38)	V526M	probably damaging	Het
Trrap	A	G	5: 144,777,917 (GRCm38)	I100V	probably benign	Het
Vmn1r-ps123	A	C	13: 22,996,357 (GRCm38)		noncoding transcript	Het
Vwa5b2	G	A	16: 20,604,790 (GRCm38)	G1151D	probably damaging	Het
Zfp358	T	A	8: 3,496,858 (GRCm38)	I480N	probably benign	Het
Zfp423	T	C	8: 87,781,574 (GRCm38)	D714G	probably damaging	Het

Other mutations in Akap8l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Akap8l	APN	17	32,333,097 (GRCm38)	missense	possibly damaging	0.82
IGL01603:Akap8l	APN	17	32,345,353 (GRCm38)	missense	probably damaging	1.00
IGL02028:Akap8l	APN	17	32,338,521 (GRCm38)	splice site	probably null
IGL02033:Akap8l	APN	17	32,338,272 (GRCm38)	missense	probably damaging	1.00
R1136:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1137:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1192:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1277:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1279:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1703:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1705:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1706:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1727:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1763:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1774:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1796:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R1954:Akap8l	UTSW	17	32,336,736 (GRCm38)	missense	possibly damaging	0.74
R2072:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R2073:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R2074:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R2107:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R2108:Akap8l	UTSW	17	32,332,483 (GRCm38)	missense	probably damaging	1.00
R2214:Akap8l	UTSW	17	32,338,825 (GRCm38)	critical splice acceptor site	probably null
R2215:Akap8l	UTSW	17	32,321,595 (GRCm38)	missense	possibly damaging	0.72
R2219:Akap8l	UTSW	17	32,334,631 (GRCm38)	missense	probably benign	0.23
R2234:Akap8l	UTSW	17	32,338,803 (GRCm38)	missense	probably damaging	1.00
R2871:Akap8l	UTSW	17	32,338,442 (GRCm38)	missense	possibly damaging	0.84
R2871:Akap8l	UTSW	17	32,338,442 (GRCm38)	missense	possibly damaging	0.84
R4273:Akap8l	UTSW	17	32,321,931 (GRCm38)	nonsense	probably null
R4379:Akap8l	UTSW	17	32,321,514 (GRCm38)	unclassified	probably benign
R5061:Akap8l	UTSW	17	32,332,894 (GRCm38)	missense	probably damaging	1.00
R5337:Akap8l	UTSW	17	32,336,394 (GRCm38)	missense	possibly damaging	0.71
R5377:Akap8l	UTSW	17	32,321,511 (GRCm38)	unclassified	probably benign
R5579:Akap8l	UTSW	17	32,321,942 (GRCm38)	missense	probably damaging	1.00
R5609:Akap8l	UTSW	17	32,338,400 (GRCm38)	missense	probably damaging	1.00
R5667:Akap8l	UTSW	17	32,338,292 (GRCm38)	missense	probably damaging	1.00
R5671:Akap8l	UTSW	17	32,338,292 (GRCm38)	missense	probably damaging	1.00
R5747:Akap8l	UTSW	17	32,345,378 (GRCm38)	missense	probably damaging	0.97
R6186:Akap8l	UTSW	17	32,333,044 (GRCm38)	missense	probably benign	0.02
R6400:Akap8l	UTSW	17	32,336,320 (GRCm38)	missense	probably damaging	0.99
R6482:Akap8l	UTSW	17	32,345,396 (GRCm38)	missense	possibly damaging	0.94
R6712:Akap8l	UTSW	17	32,332,888 (GRCm38)	missense	probably damaging	1.00
R7165:Akap8l	UTSW	17	32,338,412 (GRCm38)	missense	probably damaging	0.99
R7485:Akap8l	UTSW	17	32,335,571 (GRCm38)	missense	probably benign	0.03
R7729:Akap8l	UTSW	17	32,333,094 (GRCm38)	missense	probably damaging	1.00
R9437:Akap8l	UTSW	17	32,334,634 (GRCm38)	missense	probably benign	0.24
R9651:Akap8l	UTSW	17	32,338,809 (GRCm38)	missense	probably damaging	1.00
R9652:Akap8l	UTSW	17	32,338,809 (GRCm38)	missense	probably damaging	1.00
V5088:Akap8l	UTSW	17	32,336,739 (GRCm38)	critical splice acceptor site	probably null

Posted On

2015-04-16