Mutagenetix > Incidental Mutation

Incidental Mutation 'R5503:Dapk1'

430766

Institutional Source

Beutler Lab

Gene Symbol

Dapk1

Ensembl Gene

ENSMUSG00000021559

Gene Name

death associated protein kinase 1

Synonyms

DAP-Kinase, 2310039H24Rik, D13Ucla1, 2810425C21Rik

MMRRC Submission

043064-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60601947-60763191 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60725312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 343 (F343L)

Ref Sequence

ENSEMBL: ENSMUSP00000153607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044083] [ENSMUST00000077453] [ENSMUST00000226059]

AlphaFold

Q80YE7

Predicted Effect

probably benign
Transcript: ENSMUST00000044083
AA Change: F343L

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040825
Gene: ENSMUSG00000021559
AA Change: F343L

Domain	Start	End	E-Value	Type
S_TKc	13	275	6.35e-99	SMART
low complexity region	295	306	N/A	INTRINSIC
ANK	378	407	5.09e-2	SMART
ANK	411	440	6.61e-1	SMART
ANK	444	473	7.64e-6	SMART
ANK	477	506	2.13e-4	SMART
ANK	510	539	1.31e-4	SMART
ANK	543	572	7.83e-3	SMART
ANK	576	605	8.52e-4	SMART
ANK	609	638	1.85e-4	SMART
ANK	642	671	7.29e2	SMART
low complexity region	711	725	N/A	INTRINSIC
DEATH	1299	1396	2.65e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077453
AA Change: F343L

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076666
Gene: ENSMUSG00000021559
AA Change: F343L

Domain	Start	End	E-Value	Type
S_TKc	13	275	6.35e-99	SMART
low complexity region	295	306	N/A	INTRINSIC
ANK	378	407	5.09e-2	SMART
ANK	411	440	6.61e-1	SMART
ANK	444	473	7.64e-6	SMART
ANK	477	506	2.13e-4	SMART
ANK	510	539	1.31e-4	SMART
ANK	543	572	7.83e-3	SMART
ANK	576	605	8.52e-4	SMART
ANK	609	638	1.85e-4	SMART
ANK	642	671	7.29e2	SMART
low complexity region	711	725	N/A	INTRINSIC
Pfam:COR	984	1176	4.2e-10	PFAM
DEATH	1299	1396	2.65e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224340

Predicted Effect

probably benign
Transcript: ENSMUST00000224789

Predicted Effect

probably benign
Transcript: ENSMUST00000226059
AA Change: F343L

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.1126

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.4%
20x: 91.5%

Validation Efficiency

96% (103/107)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele show decreased sensitivity to ER stress-induced cell death and reduced tunicamycin-induced kidney damage. Mice homozygous for a gene trapped allele show decreased infarct size and neuronal death with improved neurological scores after ischemic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Abca6	A	G	11: 110,218,257	S696P	probably damaging	Het
Abca9	G	A	11: 110,141,610	T727M	probably damaging	Het
Alpk2	T	C	18: 65,306,241	R1161G	probably benign	Het
Amy1	T	C	3: 113,556,060	D487G	probably benign	Het
Arap2	G	A	5: 62,630,186	A1409V	probably damaging	Het
B020004J07Rik	A	T	4: 101,835,802	Y334N	probably benign	Het
B4galt6	C	A	18: 20,745,352		probably null	Het
Cacna1s	G	A	1: 136,086,742	G382D	probably damaging	Het
Camk2a	A	G	18: 60,978,000	D87G	probably damaging	Het
Cdh18	A	G	15: 23,436,534	Y492C	probably damaging	Het
Col18a1	C	T	10: 77,071,620	G861D	probably damaging	Het
Col4a3bp	C	T	13: 96,543,239	R26C	possibly damaging	Het
Crybg1	C	A	10: 43,998,766	S782I	probably benign	Het
Csgalnact1	G	A	8: 68,461,473	L27F	probably damaging	Het
Dab1	T	A	4: 104,512,264	C3S	probably benign	Het
Dgat1	A	T	15: 76,502,194		probably benign	Het
Dnah11	C	A	12: 117,880,451		probably null	Het
Dsg2	T	A	18: 20,580,651	Y226*	probably null	Het
Epg5	T	A	18: 77,951,207	M351K	possibly damaging	Het
F13b	A	G	1: 139,522,543	T648A	probably benign	Het
Fgf17	T	C	14: 70,636,968	Y127C	probably damaging	Het
Fkbp15	G	A	4: 62,327,887	P435S	probably benign	Het
Gfm1	G	A	3: 67,453,727		probably null	Het
Gigyf1	T	C	5: 137,523,467		probably benign	Het
Gm12830	A	T	4: 114,821,739	T6S	unknown	Het
Gm6465	A	T	5: 11,848,183	N88I	probably damaging	Het
Gpr18	C	T	14: 121,911,747	V289I	probably damaging	Het
Ipp	G	T	4: 116,537,938	E557*	probably null	Het
Klhl12	T	A	1: 134,485,915		probably null	Het
Klhl38	A	G	15: 58,322,349	V328A	possibly damaging	Het
Kndc1	A	G	7: 139,931,889	T1470A	probably damaging	Het
Kntc1	T	A	5: 123,819,876	D2173E	possibly damaging	Het
Lipi	T	C	16: 75,573,976	K118E	probably benign	Het
Marf1	A	C	16: 14,152,231	L208R	probably damaging	Het
Misp	G	A	10: 79,826,718	R323K	probably damaging	Het
Mlxip	T	A	5: 123,395,327	M133K	probably damaging	Het
Mon2	A	T	10: 123,032,645	M501K	possibly damaging	Het
Myh2	A	G	11: 67,173,449	I77V	probably benign	Het
Napa	C	A	7: 16,115,624	Q254K	probably benign	Het
Nckap5l	C	A	15: 99,425,622	G1000V	probably damaging	Het
Neo1	A	T	9: 58,985,650	S236R	possibly damaging	Het
Neurl4	T	A	11: 69,906,368	Y594N	probably damaging	Het
Nmral1	G	A	16: 4,715,629	P94L	probably benign	Het
Notch3	A	T	17: 32,147,055	I1024N	probably benign	Het
Nsd1	T	A	13: 55,245,939	I451K	probably damaging	Het
Nt5c3b	T	C	11: 100,433,057	D143G	probably benign	Het
Olfr1415	C	A	1: 92,491,196	K186N	probably benign	Het
Olfr27	A	G	9: 39,144,484	N128S	probably benign	Het
Olfr316	T	A	11: 58,758,328	V221E	probably damaging	Het
Olfr45	A	C	7: 140,691,396	M164L	probably benign	Het
Olfr77	A	G	9: 19,920,379	T57A	probably benign	Het
Olfr912	T	C	9: 38,582,072	V265A	probably benign	Het
Oplah	A	G	15: 76,305,446		probably null	Het
Phb2	T	A	6: 124,713,022		probably benign	Het
Plcl2	A	G	17: 50,509,929	I108V	probably benign	Het
Plpp6	T	A	19: 28,964,746	M249K	probably damaging	Het
Pnpt1	G	A	11: 29,138,156	G189E	probably damaging	Het
Ptprn	C	T	1: 75,251,875	V853M	probably damaging	Het
Ptprq	T	C	10: 107,688,328		probably null	Het
Rai1	G	A	11: 60,186,453	V448I	probably benign	Het
Rbm20	T	A	19: 53,851,354	C925S	possibly damaging	Het
Rin3	C	A	12: 102,313,055	P41Q	probably benign	Het
Rpl31-ps21	T	C	5: 21,119,507		noncoding transcript	Het
Rpl39-ps	A	T	15: 102,635,126		noncoding transcript	Het
Rtn4ip1	T	A	10: 43,907,883	D133E	probably benign	Het
Ryr1	T	C	7: 29,069,028	K2839E	possibly damaging	Het
Sept5	T	C	16: 18,623,368	K268R	probably benign	Het
Serpinb6b	T	A	13: 32,977,659	D238E	possibly damaging	Het
Slc15a2	C	T	16: 36,762,385	V214M	probably damaging	Het
Smarca2	T	C	19: 26,623,936	M18T	probably damaging	Het
Smarca2	C	A	19: 26,682,046	T912K	possibly damaging	Het
Smdt1	A	T	15: 82,347,900	R46S	possibly damaging	Het
Spa17	A	C	9: 37,611,977	F5V	probably damaging	Het
Spag17	A	G	3: 100,027,244	E614G	possibly damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,395,551		probably benign	Het
Tlr1	A	T	5: 64,926,292	V314D	probably damaging	Het
Trappc8	A	T	18: 20,836,900	L1011Q	probably benign	Het
Tsga10	A	G	1: 37,760,947	*691Q	probably null	Het
Vav1	A	T	17: 57,303,079	K420*	probably null	Het
Vmn1r174	C	G	7: 23,754,137	T76R	probably benign	Het
Vmn2r116	A	G	17: 23,386,804	E230G	probably benign	Het
Vps13b	A	G	15: 35,452,166	T637A	probably damaging	Het
Zbtb7a	A	G	10: 81,144,797	E275G	probably damaging	Het
Zfp280b	A	G	10: 76,039,462		probably null	Het
Zfp763	A	G	17: 33,019,533	Y213H	possibly damaging	Het
Zfp78	T	A	7: 6,378,529	W161R	probably benign	Het

Other mutations in Dapk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dapk1	APN	13	60761040	missense	probably benign	0.23
IGL00500:Dapk1	APN	13	60760804	missense	probably damaging	0.96
IGL00801:Dapk1	APN	13	60761248	missense	probably benign	0.00
IGL00903:Dapk1	APN	13	60761397	missense	probably damaging	0.99
IGL01468:Dapk1	APN	13	60760798	missense	probably benign
IGL01535:Dapk1	APN	13	60731031	splice site	probably benign
IGL01755:Dapk1	APN	13	60761175	missense	probably damaging	0.97
IGL01755:Dapk1	APN	13	60761176	missense	possibly damaging	0.63
IGL01862:Dapk1	APN	13	60726610	missense	probably benign	0.39
IGL01985:Dapk1	APN	13	60736260	missense	probably damaging	1.00
IGL02124:Dapk1	APN	13	60730882	missense	probably benign
IGL02376:Dapk1	APN	13	60696394	missense	probably benign	0.00
IGL02449:Dapk1	APN	13	60719770	splice site	probably benign
IGL02490:Dapk1	APN	13	60749334	missense	probably damaging	1.00
IGL02503:Dapk1	APN	13	60761807	nonsense	probably null
IGL02516:Dapk1	APN	13	60696347	missense	probably damaging	1.00
IGL02544:Dapk1	APN	13	60751217	missense	probably benign
IGL02604:Dapk1	APN	13	60748320	missense	probably benign
IGL03035:Dapk1	APN	13	60716773	missense	probably damaging	0.99
H8562:Dapk1	UTSW	13	60761312	missense	probably damaging	0.98
P0026:Dapk1	UTSW	13	60718149	splice site	probably benign
R0116:Dapk1	UTSW	13	60761100	missense	probably benign
R0165:Dapk1	UTSW	13	60761593	missense	probably benign	0.39
R0357:Dapk1	UTSW	13	60729558	nonsense	probably null
R0446:Dapk1	UTSW	13	60725287	splice site	probably null
R0502:Dapk1	UTSW	13	60730848	splice site	probably null
R0503:Dapk1	UTSW	13	60730848	splice site	probably null
R0597:Dapk1	UTSW	13	60761384	missense	probably benign	0.40
R0614:Dapk1	UTSW	13	60718132	missense	probably damaging	1.00
R0751:Dapk1	UTSW	13	60696298	missense	probably damaging	1.00
R0930:Dapk1	UTSW	13	60757448	missense	probably benign	0.14
R1023:Dapk1	UTSW	13	60730985	missense	probably damaging	1.00
R1033:Dapk1	UTSW	13	60721865	critical splice donor site	probably null
R1101:Dapk1	UTSW	13	60716785	missense	probably damaging	1.00
R1184:Dapk1	UTSW	13	60696298	missense	probably damaging	1.00
R1430:Dapk1	UTSW	13	60754143	missense	probably benign	0.28
R1630:Dapk1	UTSW	13	60729531	missense	probably damaging	0.99
R1681:Dapk1	UTSW	13	60718464	critical splice donor site	probably null
R1799:Dapk1	UTSW	13	60719654	missense	probably damaging	1.00
R2012:Dapk1	UTSW	13	60721857	missense	probably damaging	1.00
R2068:Dapk1	UTSW	13	60751208	missense	probably damaging	1.00
R2131:Dapk1	UTSW	13	60729531	missense	possibly damaging	0.91
R2131:Dapk1	UTSW	13	60761667	missense	possibly damaging	0.80
R2154:Dapk1	UTSW	13	60729503	missense	probably benign	0.36
R2288:Dapk1	UTSW	13	60761749	missense	probably damaging	1.00
R2312:Dapk1	UTSW	13	60757353	missense	probably damaging	0.99
R2362:Dapk1	UTSW	13	60730931	missense	probably damaging	0.98
R2400:Dapk1	UTSW	13	60752216	missense	probably benign	0.34
R2909:Dapk1	UTSW	13	60716817	critical splice donor site	probably null
R2926:Dapk1	UTSW	13	60719750	missense	possibly damaging	0.58
R3741:Dapk1	UTSW	13	60748200	missense	probably benign	0.09
R3810:Dapk1	UTSW	13	60760689	missense	probably damaging	0.98
R4374:Dapk1	UTSW	13	60719684	missense	probably benign	0.01
R4375:Dapk1	UTSW	13	60761589	missense	probably benign
R4377:Dapk1	UTSW	13	60719684	missense	probably benign	0.01
R4490:Dapk1	UTSW	13	60718128	missense	probably benign	0.26
R4576:Dapk1	UTSW	13	60721822	missense	probably benign	0.13
R4599:Dapk1	UTSW	13	60718047	missense	probably benign	0.22
R4682:Dapk1	UTSW	13	60751147	missense	probably benign	0.41
R4717:Dapk1	UTSW	13	60726662	critical splice donor site	probably null
R4775:Dapk1	UTSW	13	60749342	missense	probably benign	0.02
R4790:Dapk1	UTSW	13	60723105	frame shift	probably null
R4897:Dapk1	UTSW	13	60761786	missense	probably benign	0.01
R4931:Dapk1	UTSW	13	60760960	missense	probably benign	0.04
R5113:Dapk1	UTSW	13	60721778	missense	probably benign	0.01
R5948:Dapk1	UTSW	13	60729395	missense	probably damaging	0.97
R6012:Dapk1	UTSW	13	60761662	missense	probably benign	0.00
R6035:Dapk1	UTSW	13	60761199	missense	possibly damaging	0.46
R6035:Dapk1	UTSW	13	60761199	missense	possibly damaging	0.46
R6268:Dapk1	UTSW	13	60761766	missense	possibly damaging	0.91
R6330:Dapk1	UTSW	13	60761326	missense	probably benign	0.01
R6331:Dapk1	UTSW	13	60729442	nonsense	probably null
R6553:Dapk1	UTSW	13	60761161	missense	probably damaging	0.99
R6598:Dapk1	UTSW	13	60761347	missense	probably benign	0.03
R6602:Dapk1	UTSW	13	60749204	missense	probably benign	0.20
R6640:Dapk1	UTSW	13	60716814	missense	probably damaging	0.99
R6684:Dapk1	UTSW	13	60760894	missense	probably damaging	1.00
R6747:Dapk1	UTSW	13	60725340	missense	probably benign	0.22
R6799:Dapk1	UTSW	13	60752235	missense	probably benign
R6809:Dapk1	UTSW	13	60751289	missense	probably benign	0.00
R6915:Dapk1	UTSW	13	60696442	missense	probably damaging	1.00
R6949:Dapk1	UTSW	13	60736324	missense	probably benign	0.11
R6979:Dapk1	UTSW	13	60748281	missense	probably damaging	1.00
R7161:Dapk1	UTSW	13	60696395	missense	possibly damaging	0.89
R7171:Dapk1	UTSW	13	60761785	missense	probably damaging	0.97
R7199:Dapk1	UTSW	13	60754210	missense	probably benign	0.02
R7203:Dapk1	UTSW	13	60696335	missense	possibly damaging	0.90
R7404:Dapk1	UTSW	13	60719641	missense	probably benign	0.00
R7448:Dapk1	UTSW	13	60751176	missense	probably damaging	1.00
R7480:Dapk1	UTSW	13	60757497	missense	probably benign	0.18
R7532:Dapk1	UTSW	13	60730886	missense	probably damaging	1.00
R7574:Dapk1	UTSW	13	60761173	missense	probably damaging	1.00
R7711:Dapk1	UTSW	13	60761551	missense	probably damaging	1.00
R7753:Dapk1	UTSW	13	60751193	missense	possibly damaging	0.58
R7804:Dapk1	UTSW	13	60725339	missense	probably benign	0.41
R7822:Dapk1	UTSW	13	60725901	missense	probably benign	0.05
R7973:Dapk1	UTSW	13	60761563	missense	probably damaging	1.00
R8103:Dapk1	UTSW	13	60749195	missense	probably damaging	0.98
R8121:Dapk1	UTSW	13	60761398	missense	probably damaging	0.99
R8245:Dapk1	UTSW	13	60730896	missense	probably benign
R8401:Dapk1	UTSW	13	60723090	missense	probably benign	0.01
R8419:Dapk1	UTSW	13	60740097	missense	probably benign	0.00
R8926:Dapk1	UTSW	13	60760920	missense	probably damaging	0.98
R9063:Dapk1	UTSW	13	60718450	missense	probably benign	0.06
R9131:Dapk1	UTSW	13	60761394	missense	probably damaging	1.00
R9176:Dapk1	UTSW	13	60718448	missense	probably damaging	1.00
R9301:Dapk1	UTSW	13	60718311	missense	possibly damaging	0.92
R9407:Dapk1	UTSW	13	60751177	nonsense	probably null
R9491:Dapk1	UTSW	13	60729555	missense	probably benign	0.44
R9510:Dapk1	UTSW	13	60762389	missense	unknown
R9624:Dapk1	UTSW	13	60748123	missense	probably benign	0.31
R9726:Dapk1	UTSW	13	60751134	missense	probably benign	0.25
R9794:Dapk1	UTSW	13	60761268	missense	probably damaging	0.98
Z1176:Dapk1	UTSW	13	60760804	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTCAATGCGGATGACATCAGG -3'
(R):5'- CAAGGTATGGTTGGGGTCACAG -3'

Sequencing Primer
(F):5'- TGAAAGGGTACAGGTTCACCTCC -3'
(R):5'- TTGGGGTCACAGTCTATGAAAC -3'

Posted On

2016-10-05