Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Akap8l'

253783

Institutional Source

Beutler Lab

Gene Symbol

Akap8l

Ensembl Gene

ENSMUSG00000002625

Gene Name

A kinase (PRKA) anchor protein 8-like

Synonyms

Nakap95

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32321425-32350581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32338442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 65 (T65I)

Ref Sequence

ENSEMBL: ENSMUSP00000051389 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050214
AA Change: T65I

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
AA Change: T65I

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

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	Het

Other mutations in Akap8l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Akap8l	APN	17	32333097	missense	possibly damaging	0.82
IGL01603:Akap8l	APN	17	32345353	missense	probably damaging	1.00
IGL02028:Akap8l	APN	17	32338521	splice site	probably null
IGL02033:Akap8l	APN	17	32338272	missense	probably damaging	1.00
IGL02301:Akap8l	APN	17	32332926	splice site	probably benign
R1136:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1137:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1192:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1277:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1279:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1703:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1705:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1706:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1727:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1763:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1774:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1796:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R1954:Akap8l	UTSW	17	32336736	missense	possibly damaging	0.74
R2072:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R2073:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R2074:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R2107:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R2108:Akap8l	UTSW	17	32332483	missense	probably damaging	1.00
R2214:Akap8l	UTSW	17	32338825	critical splice acceptor site	probably null
R2215:Akap8l	UTSW	17	32321595	missense	possibly damaging	0.72
R2219:Akap8l	UTSW	17	32334631	missense	probably benign	0.23
R2234:Akap8l	UTSW	17	32338803	missense	probably damaging	1.00
R2871:Akap8l	UTSW	17	32338442	missense	possibly damaging	0.84
R4273:Akap8l	UTSW	17	32321931	nonsense	probably null
R4379:Akap8l	UTSW	17	32321514	unclassified	probably benign
R5061:Akap8l	UTSW	17	32332894	missense	probably damaging	1.00
R5337:Akap8l	UTSW	17	32336394	missense	possibly damaging	0.71
R5377:Akap8l	UTSW	17	32321511	unclassified	probably benign
R5579:Akap8l	UTSW	17	32321942	missense	probably damaging	1.00
R5609:Akap8l	UTSW	17	32338400	missense	probably damaging	1.00
R5667:Akap8l	UTSW	17	32338292	missense	probably damaging	1.00
R5671:Akap8l	UTSW	17	32338292	missense	probably damaging	1.00
R5747:Akap8l	UTSW	17	32345378	missense	probably damaging	0.97
R6186:Akap8l	UTSW	17	32333044	missense	probably benign	0.02
R6400:Akap8l	UTSW	17	32336320	missense	probably damaging	0.99
R6482:Akap8l	UTSW	17	32345396	missense	possibly damaging	0.94
R6712:Akap8l	UTSW	17	32332888	missense	probably damaging	1.00
R7165:Akap8l	UTSW	17	32338412	missense	probably damaging	0.99
R7485:Akap8l	UTSW	17	32335571	missense	probably benign	0.03
R7729:Akap8l	UTSW	17	32333094	missense	probably damaging	1.00
R9437:Akap8l	UTSW	17	32334634	missense	probably benign	0.24
R9651:Akap8l	UTSW	17	32338809	missense	probably damaging	1.00
R9652:Akap8l	UTSW	17	32338809	missense	probably damaging	1.00
V5088:Akap8l	UTSW	17	32336739	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGAAAGAGTCTGGCACAC -3'
(R):5'- CTTAGAGTGAGAAGGGCCTACC -3'

Sequencing Primer
(F):5'- TGGCACACAGGACCCTAAGG -3'
(R):5'- AGGCTACGAGAACTATGG -3'

Posted On

2014-12-04