Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Akap8l'

266617

Institutional Source

Beutler Lab

Gene Symbol

Akap8l

Ensembl Gene

ENSMUSG00000002625

Gene Name

A kinase anchor protein 8-like

Synonyms

Nakap95

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32540398-32569581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32557416 bp (GRCm39)

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Amdhd2	A	G	17: 24,376,829 (GRCm39)		probably benign	Het
Arid4a	T	A	12: 71,069,034 (GRCm39)		probably null	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Ccnb1-ps	C	A	7: 41,755,499 (GRCm39)		noncoding transcript	Het
Cfap54	A	T	10: 92,757,281 (GRCm39)	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eml5	C	T	12: 98,831,660 (GRCm39)	D433N	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Ftdc1	A	T	16: 58,434,342 (GRCm39)	I125K	probably benign	Het
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm5454	C	A	13: 103,494,031 (GRCm39)		noncoding transcript	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,343,684 (GRCm39)	Q127K	probably benign	Het
Habp2	T	A	19: 56,276,423 (GRCm39)		probably benign	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,552,118 (GRCm39)	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,401,072 (GRCm39)	R520S	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Kpna7	T	C	5: 144,930,745 (GRCm39)	T367A	probably benign	Het
Lpo	A	G	11: 87,707,350 (GRCm39)	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,502,722 (GRCm39)	I532V	probably benign	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Msh2	C	A	17: 87,993,012 (GRCm39)	Q314K	possibly damaging	Het
Mtm1	T	C	X: 70,339,968 (GRCm39)		probably benign	Homo
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nlrp4b	C	T	7: 10,444,170 (GRCm39)	Q40*	probably null	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Npas3	C	T	12: 54,114,796 (GRCm39)	R542*	probably null	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or13a17	A	G	7: 140,271,198 (GRCm39)	I127V	possibly damaging	Het
Or13j1	C	A	4: 43,706,458 (GRCm39)	V37L	probably benign	Het
Or5t16	A	T	2: 86,819,192 (GRCm39)	C109*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pcnx3	A	T	19: 5,733,774 (GRCm39)		probably benign	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Pkp4	C	A	2: 59,138,500 (GRCm39)	T250K	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,147,215 (GRCm39)	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,631,766 (GRCm39)	I48M	probably damaging	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,208,227 (GRCm39)	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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
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'- TTCAGGAAAGAGTCTGGCACAC -3'
(R):5'- TTAGAGTGAGAAGGGCCTACC -3'

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

Posted On

2015-02-18