Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02033:Akap8l'

184414

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akap8l

Ensembl Gene

ENSMUSG00000002625

Gene Name

A kinase anchor protein 8-like

Synonyms

Nakap95

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

IGL02033

Quality Score

Status

Chromosome

Chromosomal Location

32540398-32569581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32557246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 122 (R122G)

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: R122G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
AA Change: R122G

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,407,995 (GRCm39)	F107L	possibly damaging	Het
Adam30	G	T	3: 98,068,787 (GRCm39)	V79F	probably benign	Het
Apc	T	A	18: 34,443,772 (GRCm39)	S570R	probably damaging	Het
Btnl10	A	G	11: 58,810,141 (GRCm39)	E94G	probably damaging	Het
Col25a1	A	T	3: 130,182,597 (GRCm39)		probably benign	Het
Cubn	A	C	2: 13,344,657 (GRCm39)	I2208S	probably damaging	Het
Cyp17a1	A	T	19: 46,661,046 (GRCm39)	Y79*	probably null	Het
Dach1	T	A	14: 98,138,865 (GRCm39)	H474L	possibly damaging	Het
Dnai4	G	T	4: 102,923,490 (GRCm39)	N123K	possibly damaging	Het
Dscaml1	A	T	9: 45,595,080 (GRCm39)	I728F	probably damaging	Het
Erp29	G	T	5: 121,590,305 (GRCm39)	S33R	probably benign	Het
Fat3	A	C	9: 15,826,648 (GRCm39)	S4435A	possibly damaging	Het
Fbxw13	T	C	9: 109,010,484 (GRCm39)	I385V	probably damaging	Het
Hspg2	T	C	4: 137,279,565 (GRCm39)	M3160T	probably benign	Het
Lrrc28	C	T	7: 67,209,605 (GRCm39)		probably null	Het
Myh15	T	C	16: 48,965,707 (GRCm39)	V1204A	probably benign	Het
Or5b104	T	C	19: 13,072,221 (GRCm39)	S91G	possibly damaging	Het
Pcare	T	A	17: 72,058,076 (GRCm39)	I534F	probably damaging	Het
Pde5a	G	A	3: 122,596,710 (GRCm39)	E434K	possibly damaging	Het
Pgr	T	A	9: 8,965,111 (GRCm39)	V753E	probably damaging	Het
Pik3c3	T	A	18: 30,445,703 (GRCm39)	S563R	possibly damaging	Het
Ppt2	A	G	17: 34,844,728 (GRCm39)		probably benign	Het
Prg4	T	A	1: 150,331,619 (GRCm39)		probably benign	Het
Pygo1	G	T	9: 72,852,683 (GRCm39)	S290I	possibly damaging	Het
Ralgapa1	G	T	12: 55,689,262 (GRCm39)	H1946N	possibly damaging	Het
Rap1gds1	A	G	3: 138,661,232 (GRCm39)		probably benign	Het
Sema4g	G	A	19: 44,985,854 (GRCm39)	R256H	probably damaging	Het
Slc22a12	T	G	19: 6,587,844 (GRCm39)	D370A	probably benign	Het
Spata16	G	A	3: 26,967,483 (GRCm39)		probably null	Het
Trim44	A	G	2: 102,230,521 (GRCm39)	M170T	possibly damaging	Het
Trpv6	A	T	6: 41,604,551 (GRCm39)		probably benign	Het
Vwa8	T	G	14: 79,221,649 (GRCm39)	L535R	possibly 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
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
R1796: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

Posted On

2014-05-07